format-version: 1.2
data-version: hp/releases/2025-05-06
subsetdef: hposlim_core "Core clinical terminology"
subsetdef: secondary_consequence "Consequence of a disorder in another organ system."
synonymtypedef: abbreviation "abbreviation"
synonymtypedef: HP:0034334 "allelic_requirement"
synonymtypedef: layperson "layperson term"
synonymtypedef: obsolete_synonym "discarded/obsoleted synonym"
synonymtypedef: plural_form "plural form"
synonymtypedef: uk_spelling "UK spelling"
default-namespace: human_phenotype
idspace: dc http://purl.org/dc/elements/1.1/ 
idspace: oboInOwl http://www.geneontology.org/formats/oboInOwl# 
idspace: terms http://purl.org/dc/terms/ 
remark: Please see license of HPO at http://www.human-phenotype-ontology.org
ontology: hp.obo
property_value: dc:creator "Human Phenotype Ontology Consortium" xsd:string
property_value: dc:creator "Monarch Initiative" xsd:string
property_value: dc:creator "Peter Robinson" xsd:string
property_value: dc:creator "Sebastian Köhler" xsd:string
property_value: dc:description "The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities and clinical features encountered in human disease." xsd:string
property_value: dc:rights "Peter Robinson, Sebastian Koehler, The Human Phenotype Ontology Consortium, and The Monarch Initiative" xsd:string
property_value: dc:subject "Phenotypic abnormalities encountered in human disease" xsd:string
property_value: dc:title "Human Phenotype Ontology" xsd:string
property_value: IAO:0000700 HP:0000001
property_value: owl:versionInfo "2025-05-06" xsd:string
property_value: terms:license https://hpo.jax.org/app/license
logical-definition-view-relation: has_part

[Term]
id: HP:0000001
name: All
comment: Root of all terms in the Human Phenotype Ontology.
xref: UMLS:C0444868

[Term]
id: HP:0000002
name: Abnormality of body height
def: "Deviation from the norm of height with respect to that which is expected according to age and gender norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of body height" EXACT layperson []
xref: UMLS:C4025901
is_a: HP:0001507 ! Growth abnormality
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-27T02:20:00Z

[Term]
id: HP:0000003
name: Multicystic kidney dysplasia
alt_id: HP:0004715
def: "Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional." [https://orcid.org/0000-0002-0736-9199]
comment: Multicystic kidney dysplasia is the result of abnormal fetal renal development in which the affected kidney is replaced by multiple cysts and has little or no residual function. The vast majority of multicystic kidneys are unilateral. Multicystic kidney can be diagnosed on prenatal ultrasound.
synonym: "Multicystic dysplastic kidney" EXACT []
synonym: "Multicystic kidneys" EXACT []
synonym: "Multicystic renal dysplasia" EXACT []
xref: SNOMEDCT_US:204962002
xref: SNOMEDCT_US:82525005
xref: UMLS:C3714581
is_a: HP:0000107 ! Renal cyst

[Term]
id: HP:0000005
name: Mode of inheritance
alt_id: HP:0001425
alt_id: HP:0001453
alt_id: HP:0001461
alt_id: HP:0010985
def: "The pattern in which a particular genetic trait or disorder is passed from one generation to the next." [https://orcid.org/0000-0002-0736-9199]
comment: While there is a close conceptual relationship between allelic requirement and inheritance, they serve different purposes; allelic requirement is necessary for variant annotation pipelines and to determine if a given variant in a specific context is relevant to the phenotype of the patient e.g. a heterozygous variant (in the absence of compound heterozygosity) is relevant for dominant but not for recessive disease; while inheritance is used for describing the mode of inheritance of a phenotype and is particularly applicable in the clinical setting for communicating recurrence risk, to guide family screening, and to guide reproductive advice.
synonym: "Inheritance" EXACT []
xref: UMLS:C1708511
is_a: HP:0000001 ! All

[Term]
id: HP:0000006
name: Autosomal dominant inheritance
alt_id: HP:0001415
alt_id: HP:0001447
alt_id: HP:0001448
alt_id: HP:0001451
alt_id: HP:0001452
alt_id: HP:0001455
alt_id: HP:0001456
alt_id: HP:0001463
def: "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [https://orcid.org/0000-0002-0736-9199]
synonym: "Autosomal dominant" EXACT []
synonym: "Autosomal dominant form" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Autosomal dominant type" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "monoallelic_autosomal" EXACT HP:0034334 []
xref: SNOMEDCT_US:263681008
xref: UMLS:C0443147
is_a: HP:0034345 ! Mendelian inheritance

[Term]
id: HP:0000007
name: Autosomal recessive inheritance
alt_id: HP:0001416
alt_id: HP:0001526
alt_id: HP:0031362
def: "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Autosomal recessive" EXACT []
synonym: "Autosomal recessive form" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Autosomal recessive predisposition" RELATED []
synonym: "biallelic_autosomal" EXACT HP:0034334 []
xref: SNOMEDCT_US:258211005
xref: UMLS:C0441748
xref: UMLS:C4020899
is_a: HP:0034345 ! Mendelian inheritance

[Term]
id: HP:0000008
name: Abnormal morphology of female internal genitalia
def: "An abnormality of the female internal genitalia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of female internal genitalia" EXACT []
xref: UMLS:C4025900
is_a: HP:0000812 ! Abnormal internal genitalia
is_a: HP:0010460 ! Abnormality of the female genitalia

[Term]
id: HP:0000009
name: Functional abnormality of the bladder
alt_id: HP:0004424
alt_id: HP:0008731
def: "Dysfunction of the urinary bladder." [https://orcid.org/0000-0002-0736-9199]
synonym: "Poor bladder function" EXACT []
xref: UMLS:C3806583
is_a: HP:0000014 ! Abnormality of the bladder

[Term]
id: HP:0000010
name: Recurrent urinary tract infections
alt_id: HP:0000094
def: "Repeated infections of the urinary tract." [https://orcid.org/0000-0002-0736-9199]
comment: The urinary tract comprises the kidneys, ureters, a bladder, and a urethra.
synonym: "Frequent urinary tract infections" EXACT layperson []
synonym: "Recurrent UTIs" EXACT abbreviation []
synonym: "Repeated bladder infections" EXACT layperson []
synonym: "Repeated urinary tract infections" EXACT layperson []
synonym: "Urinary tract infections" EXACT layperson []
synonym: "Urinary tract infections, recurrent" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:197927001
xref: UMLS:C0262655
is_a: HP:0002719 ! Recurrent infections
is_a: HP:0011277 ! Abnormality of the urinary system physiology

[Term]
id: HP:0000011
name: Neurogenic bladder
def: "A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention." [https://orcid.org/0000-0002-0736-9199, PMID:18095004, PMID:22400020]
comment: Neurogenic bladder sphincter dysfunction (NBSD) can develop as a result of a lesion at any level in the nervous system, including the cerebral cortex, spinal cord, or peripheral nervous system. Neurologic conditions in children leading to neurogenic bladder dysfunction are predominantly congenital neural tube defects (including myelomeningocele, lipomeningocele, sacral agenesis, and occult lesions causing tethered cord). Acquired causes such as spinal cord tumors or trauma or sequelae of transverse myelitis are less frequent. Whereas from an etiologic standpoint neurogenic bladder dysfunction is a heterogeneous group, medical management will be similar irrespective of the underlying cause.
synonym: "Lack of bladder control due to nervous system injury" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:397732007
xref: SNOMEDCT_US:398064005
xref: UMLS:C0005697
is_a: HP:0000009 ! Functional abnormality of the bladder

[Term]
id: HP:0000012
name: Urinary urgency
def: "Urge incontinence is the strong, sudden need to urinate." [https://orcid.org/0000-0002-0736-9199, PMID:12559262]
comment: Urinary urgency is the strong, sudden need to urinate and is usually due to bladder spasms or contractions. This symptom is suggestive of, but not necessarily conclusive for urodynamically demonstrable detrusor hyperactivity.
synonym: "Overactive bladder" EXACT layperson [https://orcid.org/0000-0002-0736-9199]
synonym: "Overactive bladder syndrome" RELATED []
synonym: "Urgency frequency syndrome" RELATED []
synonym: "Urgent micturition" EXACT []
synonym: "Urinary urgency" EXACT layperson []
xref: SNOMEDCT_US:75088002
xref: UMLS:C0085606
xref: UMLS:C3544092
xref: UMLS:C4020898
is_a: HP:0000009 ! Functional abnormality of the bladder

[Term]
id: HP:0000013
name: Hypoplasia of the uterus
alt_id: HP:0001154
alt_id: HP:0008637
def: "Underdevelopment of the uterus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic uterus" EXACT []
synonym: "Rudimentary uterus" EXACT []
synonym: "Small uterus" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Underdeveloped uterus" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:35850006
xref: UMLS:C0266399
is_a: HP:0008684 ! Aplasia/hypoplasia of the uterus

[Term]
id: HP:0000014
name: Abnormality of the bladder
def: "An abnormality of the urinary bladder." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C0149632
is_a: HP:0010936 ! Abnormality of the lower urinary tract

[Term]
id: HP:0000015
name: Bladder diverticulum
def: "Diverticulum (sac or pouch) in the wall of the urinary bladder." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bladder diverticula" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:197866008
xref: UMLS:C0156273
is_a: HP:0025487 ! Abnormal bladder morphology

[Term]
id: HP:0000016
name: Urinary retention
def: "Inability to completely empty the urinary bladder during the process of urination." [https://orcid.org/0000-0002-0736-9199]
comment: Urinary retention is the inability of the urinary bladder to empty. The cause may be neurologic or nonneurologic.
synonym: "Increased post-void residual urine volume" EXACT []
xref: SNOMEDCT_US:130951007
xref: SNOMEDCT_US:267064002
xref: SNOMEDCT_US:449491000124101
xref: UMLS:C0080274
is_a: HP:0000009 ! Functional abnormality of the bladder

[Term]
id: HP:0000017
name: Nocturia
def: "Abnormally increased production of urine during the night leading to an unusually frequent need to urinate." [https://orcid.org/0009-0006-4530-3154]
comment: Often occurring as a result of heart insufficiency.
synonym: "Nycturia" EXACT [https://orcid.org/0009-0006-4530-3154]
xref: SNOMEDCT_US:139394000
xref: UMLS:C0028734
is_a: HP:0000009 ! Functional abnormality of the bladder

[Term]
id: HP:0000019
name: Urinary hesitancy
def: "Difficulty in beginning the process of urination." [https://orcid.org/0000-0002-0736-9199]
synonym: "Difficulty with flow" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:5972002
xref: UMLS:C0152032
is_a: HP:0000009 ! Functional abnormality of the bladder

[Term]
id: HP:0000020
name: Urinary incontinence
alt_id: HP:0006942
alt_id: HP:0008681
def: "Loss of the ability to control the urinary bladder leading to involuntary urination." [https://orcid.org/0009-0006-4530-3154, PMID:12559262]
comment: Urinary incontinence can be defined as the complaint of any involuntary leakage of urine.
synonym: "Bladder incontinence" EXACT []
synonym: "Loss of bladder control" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:165232002
xref: UMLS:C0042024
is_a: HP:0000009 ! Functional abnormality of the bladder
is_a: HP:0031064 ! Impaired continence

[Term]
id: HP:0000021
name: Megacystis
alt_id: HP:0002838
def: "Dilatation of the bladder postnatally." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1855311
is_a: HP:0010955 ! Dilatation of the bladder

[Term]
id: HP:0000022
name: Abnormal male internal genitalia morphology
def: "An abnormality of the male internal genitalia." [https://orcid.org/0000-0002-0736-9199]
comment: The internal genital structures of the male including the testis, epididymis, vas deferens, seminal vesicle, ejaculatory duct, bulbourethral gland, and the prostate.
xref: UMLS:C4025899
is_a: HP:0000812 ! Abnormal internal genitalia
is_a: HP:0010461 ! Abnormality of the male genitalia

[Term]
id: HP:0000023
name: Inguinal hernia
def: "Protrusion of the contents of the abdominal cavity through the inguinal canal." [https://orcid.org/0000-0002-0736-9199]
comment: Inguinal hernia appears as a bulge in the groin.
subset: hposlim_core
xref: MEDDRA:10022016 "Inguinal hernia"
xref: SNOMEDCT_US:396232000
xref: UMLS:C0019294
is_a: HP:0004299 ! Hernia of the abdominal wall

[Term]
id: HP:0000024
name: Prostatitis
def: "The presence of inflammation of the prostate." [https://orcid.org/0000-0002-0736-9199]
synonym: "Inflammation of the prostate" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:9713002
xref: UMLS:C0033581
is_a: HP:0008775 ! Abnormal prostate morphology
is_a: HP:0012649 ! Increased inflammatory response

[Term]
id: HP:0000025
name: Functional abnormality of male internal genitalia
xref: UMLS:C4025898
is_a: HP:0012874 ! Abnormal male reproductive system physiology

[Term]
id: HP:0000026
name: Male hypogonadism
alt_id: HP:0008649
def: "Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased function of male gonad" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:48723006
xref: UMLS:C0151721
is_a: HP:0000025 ! Functional abnormality of male internal genitalia
is_a: HP:0000135 ! Hypogonadism

[Term]
id: HP:0000027
name: Azoospermia
def: "Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet." [https://orcid.org/0000-0002-0736-9199, PMID:20514278]
synonym: "Absent sperm in semen" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:425558002
xref: SNOMEDCT_US:48188009
xref: UMLS:C0004509
is_a: HP:0008669 ! Abnormal spermatogenesis

[Term]
id: HP:0000028
name: Cryptorchidism
alt_id: HP:0000797
def: "Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum." [https://orcid.org/0000-0002-0736-9199, PMID:23650202]
comment: The gonad is mobile and can be retracted superiorly by the cremaster muscle reflex stimulated, for instance, by cold or touch. A retracted testis is not cryptorchidism. An abdominal testis cannot be distinguished by physical examination from an (Apparently) absent testis and requires radiological (or, rarely, surgical) procedures for assessment.
synonym: "Cryptorchism" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Undescended testes" EXACT layperson []
synonym: "Undescended testis" EXACT layperson []
xref: Fyler:4493
xref: SNOMEDCT_US:204878001
xref: UMLS:C0010417
is_a: HP:0000035 ! Abnormal testis morphology

[Term]
id: HP:0000029
name: Testicular atrophy
def: "Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility." [https://orcid.org/0000-0002-0736-9199]
synonym: "Testicular degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:17585008
xref: UMLS:C0156312
is_a: HP:0000035 ! Abnormal testis morphology

[Term]
id: HP:0000030
name: Testicular gonadoblastoma
def: "The presence of a gonadoblastoma of the testis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Gonadoblastoma, male" RELATED []
xref: NCIT:C3754
xref: UMLS:C1515283
is_a: HP:0000150 ! Gonadoblastoma
is_a: HP:0010788 ! Testicular neoplasm

[Term]
id: HP:0000031
name: Epididymitis
def: "The presence of inflammation of the epididymis." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:31070006
xref: UMLS:C0014534
is_a: HP:0009714 ! Abnormal epididymis morphology
is_a: HP:0012649 ! Increased inflammatory response

[Term]
id: HP:0000032
name: Abnormal male external genitalia morphology
def: "Any structural abnormality of male external genitalia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of male external genitalia" EXACT []
xref: UMLS:C4025897
is_a: HP:0000811 ! Abnormal external genitalia morphology
is_a: HP:0010461 ! Abnormality of the male genitalia

[Term]
id: HP:0000033
name: Ambiguous genitalia, male
def: "Ambiguous genitalia in an individual with XY genetic gender." [https://orcid.org/0000-0002-0736-9199]
synonym: "Ambiguous genitalia in males" EXACT layperson []
xref: UMLS:C4021823
is_a: HP:0000032 ! Abnormal male external genitalia morphology
is_a: HP:0000062 ! Ambiguous genitalia

[Term]
id: HP:0000034
name: Hydrocele testis
def: "Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis." [PMID:32644551]
synonym: "Hydrocele" BROAD []
synonym: "Testicular hydrocele" EXACT []
xref: SNOMEDCT_US:26614003
xref: SNOMEDCT_US:386152007
xref: SNOMEDCT_US:55434001
xref: UMLS:C1720771
is_a: HP:0000035 ! Abnormal testis morphology

[Term]
id: HP:0000035
name: Abnormal testis morphology
def: "An anomaly of the testicle (the male gonad)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the testis" EXACT layperson []
synonym: "Anomaly of the testes" EXACT []
xref: SNOMEDCT_US:55631001
xref: UMLS:C0266423
is_a: HP:0000032 ! Abnormal male external genitalia morphology

[Term]
id: HP:0000036
name: Abnormal penis morphology
def: "Abnormality of the male external sex organ." []
synonym: "Abnormality of the penis" EXACT layperson []
xref: UMLS:C4025896
is_a: HP:0000032 ! Abnormal male external genitalia morphology

[Term]
id: HP:0000037
name: Male pseudohermaphroditism
def: "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:111332007
xref: UMLS:C0238395
is_a: HP:0000032 ! Abnormal male external genitalia morphology

[Term]
id: HP:0000039
name: Epispadias
def: "Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias." [https://orcid.org/0000-0002-0736-9199, PMID:23650202, PMID:33085327]
comment: Epispadias may be present in a phenotypic male, female, or an individual with ambiguous genitalia. A meatus in a phenotypic male may be positioned either on the glans (glandular or balanic epispadias), the shaft (penile epispadias) or at the attachment of the penis to the abdominal wall (penopubic epispadias). Alternatively, the urethra may be an open groove along the dorsal shaft of the penis, with no readily recognized meatus. Epispadias is a frequent component of Bladder exstrophy, but should be coded separately.
xref: SNOMEDCT_US:406477003
xref: UMLS:C0563449
is_a: HP:0100627 ! Displacement of the urethral meatus

[Term]
id: HP:0000040
name: Long penis
def: "Penile length more than 2 SD above the mean for age." []
comment: Penile length is the distance between the midline attachment of the gently stretched, flaccid penis above the pubic symphysis and tip of the glans.
synonym: "Enlarged penis" EXACT layperson []
synonym: "Long penis" EXACT layperson []
xref: SNOMEDCT_US:88673001
xref: UMLS:C0269011
is_a: HP:0000036 ! Abnormal penis morphology

[Term]
id: HP:0000041
name: Chordee
def: "Ventral (i.e., downward), lateral, or ventrolateral curvature of the shaft and glans penis of more than 30 degrees." [https://orcid.org/0000-0002-0736-9199, PMID:23650202, PMID:29570261]
comment: The degree of variation of penis curvature is a continuum, but traditionally 30 degrees is considered the threshold for surgical intervention on chordee. Bowing usually becomes more obvious in an erect penis, but is frequently also palpable when stretching a flaccid penis. Chordee can be congenital or acquired; if the former, it can be associated with Webbed Penis or Hypospadias, which should be coded separately.
xref: SNOMEDCT_US:4287008
xref: UMLS:C0221182
is_a: HP:0000036 ! Abnormal penis morphology

[Term]
id: HP:0000042
name: Absent external genitalia
def: "Lack of external genitalia in a male or female individual." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent external genitalia" EXACT layperson []
xref: UMLS:C1848869
is_a: HP:0000811 ! Abnormal external genitalia morphology

[Term]
id: HP:0000044
name: Hypogonadotropic hypogonadism
alt_id: HP:0003335
alt_id: HP:0008224
def: "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [https://orcid.org/0000-0002-0736-9199, PMID:23503957]
synonym: "Hypogonadotrophic hypogonadism" EXACT []
synonym: "Isolated hypogonadotropic hypogonadism" RELATED []
synonym: "Low gonadotropins (secondary hypogonadism)" EXACT []
xref: SNOMEDCT_US:33927004
xref: UMLS:C0271623
xref: UMLS:C3489396
is_a: HP:0000135 ! Hypogonadism

[Term]
id: HP:0000045
name: Abnormal scrotum morphology
def: "Any structural abnormality of the scrotum, i.e., the sac that contains the testes, epididymis, and the lower part of the spermatic cord." []
synonym: "Abnormality of the scrotum" EXACT []
xref: UMLS:C4025895
is_a: HP:0000032 ! Abnormal male external genitalia morphology

[Term]
id: HP:0000046
name: Small scrotum
alt_id: HP:0030276
def: "Apparently small scrotum for age." [PMID:23650202]
comment: A small scrotum is often accompanied by Cryptorchidism which should be coded separately. The size of the scrotum is dependent on the ambient temperature: a low temperature may cause the testes to retract, leading to the false impression of a small scrotum.
synonym: "Hypoplastic scrotum" EXACT []
synonym: "Scrotal hypoplasia" EXACT []
synonym: "Smaller than typical growth of scrotum" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Underdeveloped scrotum" EXACT layperson []
xref: SNOMEDCT_US:204912007
xref: UMLS:C0431659
is_a: HP:0000045 ! Abnormal scrotum morphology
is_a: HP:0000050 ! Hypoplastic male external genitalia

[Term]
id: HP:0000047
name: Hypospadias
def: "Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum." [https://orcid.org/0000-0002-0736-9199, PMID:21968448]
synonym: "Hypospadia" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: Fyler:4504
xref: SNOMEDCT_US:204888000
xref: UMLS:C1691215
is_a: HP:0100627 ! Displacement of the urethral meatus

[Term]
id: HP:0000048
name: Bifid scrotum
def: "Midline indentation or cleft of the scrotum." [https://orcid.org/0000-0002-0736-9199, PMID:23650202]
comment: A testis may or may not be present in each half of the scrotum.
synonym: "Cleft of scrotum" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Scrotal cleft" EXACT []
xref: SNOMEDCT_US:236780002
xref: UMLS:C0341787
is_a: HP:0000045 ! Abnormal scrotum morphology

[Term]
id: HP:0000049
name: Shawl scrotum
def: "Superior margin of the scrotum superior to the base of the penis." [https://orcid.org/0000-0002-0736-9199, PMID:23650202]
comment: A congenital overriding scrotum may disappear with growth and development, especially during puberty. If the entire scrotum is located superior to the penis, the term Penoscrotal transposition is used instead.
synonym: "Overriding scrotum" EXACT []
synonym: "Scrotum surrounds penis" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1858539
is_a: HP:0000045 ! Abnormal scrotum morphology

[Term]
id: HP:0000050
name: Hypoplastic male external genitalia
alt_id: HP:0008710
alt_id: HP:0008721
def: "Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic male genitalia" EXACT []
synonym: "Small male external genitalia" EXACT layperson []
synonym: "Underdeveloped male genitalia" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1852534
is_a: HP:0000032 ! Abnormal male external genitalia morphology
is_a: HP:0003241 ! External genital hypoplasia

[Term]
id: HP:0000051
name: Perineal hypospadias
def: "Hypospadias with location of the urethral meatus in the perineal region." [https://orcid.org/0000-0002-0736-9199, PMID:8097257]
xref: SNOMEDCT_US:204890004
xref: UMLS:C0452148
is_a: HP:0000047 ! Hypospadias

[Term]
id: HP:0000052
name: Urethral atresia, male
def: "Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025894
is_a: HP:0000068 ! Urethral atresia

[Term]
id: HP:0000053
name: Macroorchidism
def: "The presence of abnormally large testes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Large testicles" EXACT []
synonym: "Large testis" EXACT layperson []
xref: UMLS:C1263023
is_a: HP:0045058 ! Abnormality of the testis size

[Term]
id: HP:0000054
name: Micropenis
alt_id: HP:0000038
def: "Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm." [https://orcid.org/0000-0002-0736-9199, PMID:15102623]
synonym: "Short penis" EXACT layperson []
synonym: "Small penis" EXACT layperson []
xref: SNOMEDCT_US:34911001
xref: UMLS:C4551492
is_a: HP:0008736 ! Hypoplasia of penis

[Term]
id: HP:0000055
name: Abnormal female external genitalia morphology
def: "Any structural abnormality of the female external genitalia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal female external genitalia" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Abnormality of female external genitalia" EXACT []
xref: UMLS:C4021822
is_a: HP:0000811 ! Abnormal external genitalia morphology
is_a: HP:0010460 ! Abnormality of the female genitalia

[Term]
id: HP:0000056
name: Abnormal clitoris morphology
def: "Any structural abnormality of the clitoris." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the clit" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the clitoris" EXACT []
xref: UMLS:C4025893
is_a: HP:0000055 ! Abnormal female external genitalia morphology

[Term]
id: HP:0000057
name: obsolete Clitoromegaly
is_obsolete: true
replaced_by: HP:0008665

[Term]
id: HP:0000058
name: Abnormal labia morphology
def: "An anomaly of the labia, the externally visible portions of the vulva." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the labia" EXACT []
xref: UMLS:C4025892
is_a: HP:0000055 ! Abnormal female external genitalia morphology

[Term]
id: HP:0000059
name: Hypoplastic labia majora
def: "Undergrowth of the outer labia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplasia of labia majora" EXACT []
synonym: "Small labia majora" EXACT layperson []
synonym: "Underdeveloped vaginal lips" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:289469003
xref: UMLS:C0566899
is_a: HP:0000066 ! Labial hypoplasia
is_a: HP:0012881 ! Abnormal labia majora morphology

[Term]
id: HP:0000060
name: Clitoral hypoplasia
def: "Developmental hypoplasia of the clitoris." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic clitoris" EXACT []
synonym: "Small clitoris" EXACT layperson []
synonym: "Underdeveloped clit" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1844527
is_a: HP:0012815 ! Hypoplastic female external genitalia
is_a: HP:0040255 ! Aplasia/Hypoplasia of the clitoris

[Term]
id: HP:0000061
name: Ambiguous genitalia, female
alt_id: HP:0008690
def: "Ambiguous genitalia in an individual with XX genetic gender." [https://orcid.org/0000-0002-0736-9199]
synonym: "Ambiguous genitalia due to virilization" RELATED []
synonym: "Atypical appearance of female genitals" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1859980
xref: UMLS:C4025891
is_a: HP:0000055 ! Abnormal female external genitalia morphology
is_a: HP:0000062 ! Ambiguous genitalia

[Term]
id: HP:0000062
name: Ambiguous genitalia
alt_id: HP:0008685
alt_id: HP:0008693
def: "A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4." [https://orcid.org/0000-0002-0736-9199, PMID:15102623]
comment: Note that this term can include or combine variations in size and shape, with partial or complete absence of structures. It is preferable to describe the individual components, which are defined below. It is nonetheless a widely used bundled term and as such is retained here. The distinction of this finding from a marked degree of Hypospadias is an example of how this term can be problematic. Genetic gender is determined at fertilization, whereby the presence of a Y chromosome determines male gender. Normally, genetic gender determines gonadal gender which in turn determines phenotypic gender. Testicular development is an active process requiring expression of the primary testis determining gene SRY, which is located on the Y chromosome.
synonym: "Ambiguous external genitalia" EXACT layperson []
synonym: "Ambiguous external genitalia at birth" EXACT layperson []
synonym: "Intersex genitalia" EXACT layperson []
xref: SNOMEDCT_US:21321009
xref: UMLS:C0266362
is_a: HP:0000811 ! Abnormal external genitalia morphology

[Term]
id: HP:0000063
name: Fused labia minora
def: "Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fused inner lips" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1837532
is_a: HP:0012880 ! Abnormal labia minora morphology

[Term]
id: HP:0000064
name: Hypoplastic labia minora
synonym: "Underdeveloped inner lips" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1849295
is_a: HP:0000066 ! Labial hypoplasia
is_a: HP:0012880 ! Abnormal labia minora morphology

[Term]
id: HP:0000065
name: Labial hypertrophy
synonym: "Enlarged vaginal lips" EXACT []
synonym: "Enlargement of the labia" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Enlargement of the vaginal lips" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:16924008
xref: UMLS:C0404531
is_a: HP:0000058 ! Abnormal labia morphology

[Term]
id: HP:0000066
name: Labial hypoplasia
synonym: "Hypoplastic labia" EXACT []
synonym: "Underdeveloped labia" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1850325
is_a: HP:0000058 ! Abnormal labia morphology
is_a: HP:0012815 ! Hypoplastic female external genitalia

[Term]
id: HP:0000067
name: Urethral atresia, female
def: "Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025890
is_a: HP:0000055 ! Abnormal female external genitalia morphology
is_a: HP:0000068 ! Urethral atresia

[Term]
id: HP:0000068
name: Urethral atresia
def: "Congenital anomaly characterized by closure or failure to develop an opening in the urethra." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent urethral opening" EXACT []
synonym: "Urethral opening absent" EXACT []
xref: UMLS:C1610065
is_a: HP:0000795 ! Abnormality of the urethra

[Term]
id: HP:0000069
name: Abnormality of the ureter
alt_id: HP:0006001
def: "An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the ureters" EXACT []
synonym: "Ureter issue" EXACT []
synonym: "Ureteral anomalies" EXACT []
xref: UMLS:C1840382
is_a: HP:0010935 ! Abnormality of the upper urinary tract

[Term]
id: HP:0000070
name: Ureterocele
def: "A ureterocele is a congenital saccular dilatation of the distal segment of the ureter." [eMedicine:453993]
xref: SNOMEDCT_US:12818004
xref: UMLS:C0041960
is_a: HP:0025633 ! Abnormal ureter morphology

[Term]
id: HP:0000071
name: Ureteral stenosis
def: "The presence of a stenotic, i.e., constricted ureter." [https://orcid.org/0000-0002-0736-9199]
synonym: "Narrowing of the ureter" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Ureteric stenosis" EXACT []
xref: SNOMEDCT_US:95574003
xref: UMLS:C0521618
is_a: HP:0006000 ! Ureteral obstruction

[Term]
id: HP:0000072
name: Hydroureter
alt_id: HP:0006003
def: "The distention of the ureter with urine." [https://orcid.org/0000-0002-0736-9199, PMID:33085364]
synonym: "Dilated ureter" EXACT []
synonym: "Megaureter" EXACT []
synonym: "Swelling of ureter" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Ureteral dilatation" EXACT []
synonym: "Uroureter" RELATED []
synonym: "Wide ureter" EXACT []
xref: SNOMEDCT_US:69758005
xref: SNOMEDCT_US:95576001
xref: UMLS:C0521620
xref: UMLS:C4020897
is_a: HP:0025633 ! Abnormal ureter morphology

[Term]
id: HP:0000073
name: Ureteral duplication
def: "A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder." [https://orcid.org/0000-0002-0736-9199]
synonym: "Double ureter" EXACT layperson []
xref: SNOMEDCT_US:49496001
xref: UMLS:C0221365
is_a: HP:0025633 ! Abnormal ureter morphology

[Term]
id: HP:0000074
name: Ureteropelvic junction obstruction
def: "Blockage of urine flow from the renal pelvis to the proximal ureter." [HPO_CONTRIBUTOR:Eurenomics_ewuehl]
synonym: "Pelviureteric junction obstruction" EXACT []
synonym: "Ureteropelvic junction stenosis" EXACT []
xref: SNOMEDCT_US:95575002
xref: UMLS:C0521619
is_a: HP:0000071 ! Ureteral stenosis

[Term]
id: HP:0000075
name: Renal duplication
def: "A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters." [https://orcid.org/0000-0002-0736-9199]
synonym: "Extra kidney" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Supernumerary kidney" RELATED []
xref: SNOMEDCT_US:30275001
xref: UMLS:C0266298
is_a: HP:0005217 ! Abdominal organ duplication
is_a: HP:0012210 ! Abnormal renal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-25T12:45:00Z

[Term]
id: HP:0000076
name: Vesicoureteral reflux
alt_id: HP:0005998
alt_id: HP:0006002
alt_id: HP:0008667
def: "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Ureteral reflux" EXACT []
synonym: "Ureteric reflux" EXACT []
synonym: "Vesico-ureteral reflux" EXACT []
synonym: "Vesicoureteric reflux" EXACT []
synonym: "VUR" EXACT abbreviation []
xref: Fyler:4510
xref: SNOMEDCT_US:197811007
xref: UMLS:C0042580
is_a: HP:0000009 ! Functional abnormality of the bladder
is_a: HP:0025634 ! Abnormal ureter physiology

[Term]
id: HP:0000077
name: Abnormality of the kidney
def: "An abnormality of the kidney." [https://orcid.org/0000-0002-0736-9199]
comment: The kidney is a paired organ whose primary function is the production of urine.
synonym: "Abnormal kidney" EXACT layperson []
synonym: "Abnormality of the kidney" EXACT layperson []
synonym: "Renal anomalies" EXACT []
synonym: "Renal anomaly" EXACT []
xref: SNOMEDCT_US:44513007
xref: SNOMEDCT_US:90708001
xref: UMLS:C0022658
xref: UMLS:C0266292
is_a: HP:0010935 ! Abnormality of the upper urinary tract

[Term]
id: HP:0000078
name: Abnormality of the genital system
def: "An abnormality of the genital system." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the reproductive system" RELATED layperson []
synonym: "Genital abnormalities" EXACT layperson []
synonym: "Genital abnormality" EXACT layperson []
synonym: "Genital anomalies" EXACT layperson []
synonym: "Genital defects" EXACT layperson []
xref: UMLS:C0281966
xref: UMLS:C0744356
is_a: HP:0000119 ! Abnormality of the genitourinary system

[Term]
id: HP:0000079
name: Abnormality of the urinary system
def: "An abnormality of the urinary system." [https://orcid.org/0000-0002-0736-9199]
synonym: "Urinary tract abnormalities" EXACT layperson []
synonym: "Urinary tract abnormality" EXACT layperson []
synonym: "Urinary tract anomalies" EXACT layperson []
xref: UMLS:C4021821
is_a: HP:0000119 ! Abnormality of the genitourinary system

[Term]
id: HP:0000080
name: Abnormality of reproductive system physiology
def: "An abnormal functionality of the genital system." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of genital physiology" BROAD layperson []
synonym: "Abnormality of reproductive system physiology" EXACT layperson []
synonym: "Genital functional abnormality" EXACT layperson []
xref: UMLS:C4020896
xref: UMLS:C4021820
is_a: HP:0000078 ! Abnormality of the genital system

[Term]
id: HP:0000081
name: Duplicated collecting system
def: "A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice." [https://orcid.org/0000-0002-0736-9199]
synonym: "Double collecting system" EXACT []
synonym: "Double urinary collecting systems on intravenous pyelography" EXACT []
synonym: "Duplex collecting system" EXACT []
synonym: "Duplicated renal collecting system" EXACT []
xref: UMLS:C1858565
is_a: HP:0004742 ! Abnormal renal collecting system morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-25T12:45:00Z

[Term]
id: HP:0000083
name: Renal insufficiency
alt_id: HP:0000084
alt_id: HP:0004723
def: "A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism." [https://orcid.org/0000-0002-0736-9199]
synonym: "Renal failure" EXACT layperson []
synonym: "Renal failure in adulthood" EXACT layperson []
xref: SNOMEDCT_US:236423003
xref: SNOMEDCT_US:42399005
xref: UMLS:C0035078
xref: UMLS:C1565489
xref: UMLS:C1839604
is_a: HP:0012211 ! Abnormal renal physiology

[Term]
id: HP:0000085
name: Horseshoe kidney
def: "A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fused kidneys" BROAD []
synonym: "Horseshoe kidney" EXACT layperson []
synonym: "Horseshoe kidneys" EXACT layperson []
xref: Fyler:4507
xref: SNOMEDCT_US:41729002
xref: UMLS:C0221353
is_a: HP:0100542 ! Abnormal localization of kidney

[Term]
id: HP:0000086
name: Ectopic kidney
def: "A developmental defect in which a kidney is located in an abnormal anatomic position." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal kidney location" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Displaced kidney" EXACT layperson []
synonym: "Ectopic kidneys" EXACT []
synonym: "Renal ectopia" EXACT []
xref: SNOMEDCT_US:16507009
xref: UMLS:C0238207
is_a: HP:0100542 ! Abnormal localization of kidney

[Term]
id: HP:0000089
name: Renal hypoplasia
alt_id: HP:0001968
alt_id: HP:0004741
alt_id: HP:0008641
def: "Hypoplasia of the kidney." [https://orcid.org/0000-0002-0736-9199]
comment: Oligomeganephronic renal hypoplasia differs from simple hypoplasia, in which the renal mass is reduced but the number of nephrons is normal.
synonym: "Hypoplastic kidney" EXACT []
synonym: "Hypoplastic kidneys" EXACT []
synonym: "Small kidneys" EXACT layperson []
synonym: "Underdeveloped kidneys" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:32659003
xref: UMLS:C0266295
is_a: HP:0008678 ! Renal hypoplasia/aplasia

[Term]
id: HP:0000090
name: Nephronophthisis
alt_id: HP:0004748
def: "Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis." [HPO_CONTRIBUTOR:Eurenomics_fschaefer]
comment: Nephronophthisis is here regarded as a phenotypic feature. The disease of the same name results in progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli.
synonym: "juvenile nephronophthisis" EXACT []
xref: SNOMEDCT_US:204958008
xref: UMLS:C0687120
is_a: HP:0100957 ! Abnormal renal medulla morphology

[Term]
id: HP:0000091
name: Abnormal renal tubule morphology
def: "An abnormality of the renal tubules." [https://orcid.org/0000-0002-0736-9199]
comment: The renal tubules are reabsorptive canals that are involved in the secreting, collecting, and conducting of the urine.
synonym: "Abnormality of the renal tubule" EXACT []
synonym: "Morphologic abnormality of the renal tubules" EXACT []
xref: UMLS:C4021826
is_a: HP:0012575 ! Abnormal nephron morphology

[Term]
id: HP:0000092
name: Renal tubular atrophy
alt_id: HP:0005578
def: "The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules." [https://orcid.org/0000-0002-0736-9199, PMID:27211375]
comment: Atrophic tubules must be distinguished from acute tubular injury as both can show extensive tubular epithelial changes. In acute tubular injury, tubules are often dilated and tubular basement membranes are smooth and maintain normal thickness, in contrast to the contracted tubules with thickened and wrinkled tubular basement membranes of tubular atrophy. Further, in acute tubular injury, tubules are usually back-to-back or mildly separated by interstitial edema, while in tubular atrophy tubules can be separated by interstitial fibrosis. Uniform thickening of tubular basement membranes without shrinkage and otherwise healthy epithelial cells can be seen in diabetic nephropathy. Duplication, or lamellation, thickening, and disruption of tubular basement membranes with tubular dilatation can be seen in medullary cystic kidney disease/nephronophthisis.
synonym: "Renal tubular cell atrophy" EXACT []
synonym: "Tubular atrophy" EXACT []
xref: UMLS:C1858395
is_a: HP:0032599 ! Abnormal renal tubular epithelial morphology

[Term]
id: HP:0000093
name: Proteinuria
def: "Increased levels of protein in the urine." [https://orcid.org/0000-0002-0736-9199]
synonym: "High urine protein levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Protein in urine" EXACT layperson []
xref: SNOMEDCT_US:29738008
xref: UMLS:C0033687
is_a: HP:0020129 ! Abnormal urine protein level

[Term]
id: HP:0000095
name: Abnormal renal glomerulus morphology
def: "A structural anomaly of the glomerulus." [HPO_CONTRIBUTOR:Eurenomics_ewuehl, PMID:18184729]
comment: Each human kidney contains approximately one million nephrons. The glomerulus is the most proximal component of the nephron. The glomerulus of the mammalian kidney is a highly developed vascular bed that acts as a filter, allowing a filtrate of small molecules, such as water, sugars, electrolytes and small proteins, to pass through a barrier that retains high molecular weight proteins and cells in the circulation.
synonym: "Abnormality of renal glomerulus morphology" EXACT []
synonym: "Morphologic abnormality of the renal glomerulus" EXACT []
xref: UMLS:C4025889
is_a: HP:0031263 ! Abnormal renal corpuscle morphology

[Term]
id: HP:0000096
name: Glomerular sclerosis
alt_id: HP:0030761
def: "Accumulation of scar tissue within the glomerulus." [HPO_CONTRIBUTOR:Eurenomics_fschaefer]
synonym: "Glomerulosclerosis" EXACT []
synonym: "Renal glomerular fibrosis" BROAD []
xref: SNOMEDCT_US:197661001
xref: SNOMEDCT_US:82646005
xref: UMLS:C0178664
is_a: HP:0000095 ! Abnormal renal glomerulus morphology

[Term]
id: HP:0000097
name: Focal segmental glomerulosclerosis
alt_id: HP:0004747
def: "Segmental accumulation of scar tissue in individual (but not all) glomeruli." [HPO_CONTRIBUTOR:Eurenomics_fschaefer, PMID:16164633]
comment: Glomerular changes can be focal (only in some glomeruli) or diffuse (in all or almost all the glomeruli), and segmental (only a part of the glomerulus) or global (the entire glomerulus). FSGS is characterized by focal and segmental occurrence of lesions with mesangial sclerosis, obliteration of glomerular capillaries with hyalinosis and intracapillary foam cells, formation of adhesions between the glomerular tuft and Bowman's capsule, and podocyte hypertrophy. FSGS is not a disease entity, but rather a pattern of injury with quite diverse clinical behavior, morphology, and possibly also pathogenesis.
synonym: "Focal and segmental glomerular sclerosis" EXACT []
synonym: "Focal and segmental glomerulosclerosis" EXACT []
synonym: "focal glomerulosclerosis" EXACT []
xref: SNOMEDCT_US:236403004
xref: SNOMEDCT_US:25821008
xref: UMLS:C0017668
is_a: HP:0000096 ! Glomerular sclerosis

[Term]
id: HP:0000098
name: Tall stature
alt_id: HP:0001527
alt_id: HP:0003515
alt_id: HP:0003516
def: "A height above that which is expected according to age and gender norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Accelerated linear growth" EXACT []
synonym: "Increased body height" EXACT layperson []
synonym: "Increased linear growth" EXACT []
synonym: "Tall stature" EXACT layperson []
xref: SNOMEDCT_US:248328003
xref: UMLS:C0241240
is_a: HP:0000002 ! Abnormality of body height
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-27T02:21:00Z

[Term]
id: HP:0000099
name: Glomerulonephritis
def: "Inflammation of the renal glomeruli." [https://orcid.org/0000-0002-0736-9199]
synonym: "Glomerular nephritis" EXACT []
xref: SNOMEDCT_US:36171008
xref: UMLS:C0017658
is_a: HP:0000095 ! Abnormal renal glomerulus morphology
is_a: HP:0000123 ! Nephritis

[Term]
id: HP:0000100
name: Nephrotic syndrome
alt_id: HP:0000801
alt_id: HP:0004718
alt_id: HP:0008638
alt_id: HP:0008727
def: "Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia." [https://orcid.org/0000-0002-0736-9199]
comment: In adults, nephrotic syndrome is characterized by protein excretion of 3.5 g or more per day. In children, nephrotic syndrome is accompanied by protein excretion of more than 40 mg/m2/h and hypalbuminemia < 2.5 mg/dl.
synonym: "Nephrosis" EXACT []
xref: SNOMEDCT_US:52254009
xref: UMLS:C0027726
is_a: HP:0012211 ! Abnormal renal physiology

[Term]
id: HP:0000103
name: Polyuria
alt_id: HP:0200060
def: "An increased rate of urine production." [https://orcid.org/0000-0002-0736-9199]
comment: An excessive volume of urination for an adult is more than 2.5 liters of urine per day.
synonym: "Increased urine output" EXACT layperson []
xref: SNOMEDCT_US:28442001
xref: SNOMEDCT_US:56574000
xref: SNOMEDCT_US:718402002
xref: UMLS:C0032617
is_a: HP:0012590 ! Abnormal urine output

[Term]
id: HP:0000104
name: Renal agenesis
alt_id: HP:0000785
alt_id: HP:0004745
alt_id: HP:0008680
def: "Agenesis, that is, failure of the kidney to develop during embryogenesis and development." [https://orcid.org/0000-0002-0736-9199]
comment: Renal agenesis can occur as a unilateral or bilateral trait.
synonym: "Absent kidney" EXACT layperson []
synonym: "Missing kidney" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Renal aplasia" EXACT []
xref: Fyler:4503
xref: SNOMEDCT_US:204942005
xref: UMLS:C0542519
is_a: HP:0008678 ! Renal hypoplasia/aplasia

[Term]
id: HP:0000105
name: Enlarged kidney
def: "An abnormal increase in the size of the kidney." [https://orcid.org/0000-0002-0736-9199]
comment: The main causes of large kidney are hydronephrosis, polycystic disease, renal cell carcinoma, nephroblastoma/Wilms tumor (in children), and solitary cysts. If possible, a specific term should be used instead of this one. There are several ways of diagnosing enlarged kidney including intravenous urography.
synonym: "Enlarged kidney" EXACT layperson []
synonym: "Large kidney" RELATED []
synonym: "Large kidneys" EXACT layperson []
synonym: "Nephromegaly" EXACT []
synonym: "Renal enlargement" EXACT []
xref: SNOMEDCT_US:300444006
xref: UMLS:C0542518
is_a: HP:0012210 ! Abnormal renal morphology

[Term]
id: HP:0000107
name: Renal cyst
alt_id: HP:0000088
alt_id: HP:0000109
def: "A fluid filled sac in the kidney." [HPO_CONTRIBUTOR:Eurenomics_fschaefer]
synonym: "Cystic kidney disease" RELATED layperson []
synonym: "Cystic kidneys" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Kidney cyst" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Renal cysts" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C0022679
xref: UMLS:C3887499
is_a: HP:0012210 ! Abnormal renal morphology

[Term]
id: HP:0000108
name: Renal corticomedullary cysts
def: "The presence of multiple cysts at the border between the renal cortex and medulla." [https://orcid.org/0000-0002-0736-9199]
synonym: "Corticomedullary renal cysts" EXACT []
synonym: "Renal corticomedullary cystic disease" RELATED []
xref: UMLS:C1968619
is_a: HP:0000107 ! Renal cyst
is_a: HP:0011035 ! Abnormal renal cortex morphology
is_a: HP:0100957 ! Abnormal renal medulla morphology

[Term]
id: HP:0000110
name: Renal dysplasia
alt_id: HP:0000116
alt_id: HP:0004721
def: "The presence of developmental dysplasia of the kidney." [https://orcid.org/0000-0002-0736-9199]
synonym: "Dysplastic kidneys" EXACT []
synonym: "Renal adysplasia" EXACT []
xref: SNOMEDCT_US:204949001
xref: UMLS:C1619700
xref: UMLS:C3536714
is_a: HP:0012210 ! Abnormal renal morphology

[Term]
id: HP:0000111
name: Renal juxtaglomerular cell hypertrophy/hyperplasia
def: "Increased number and size of the juxtaglomerular cells." [HPO_CONTRIBUTOR:Eurenomics_ewuehl]
xref: UMLS:C1866496
is_a: HP:0000095 ! Abnormal renal glomerulus morphology

[Term]
id: HP:0000112
name: Nephropathy
def: "A nonspecific term referring to disease or damage of the kidneys." [https://orcid.org/0000-0002-0736-9199]
synonym: "Kidney damage" BROAD layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Kidney disease" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:90708001
xref: UMLS:C0022658
xref: UMLS:C1408258
is_a: HP:0012211 ! Abnormal renal physiology

[Term]
id: HP:0000113
name: Polycystic kidney dysplasia
alt_id: HP:0004716
alt_id: HP:0004739
alt_id: HP:0004740
alt_id: HP:0008645
alt_id: HP:0008673
alt_id: HP:0008699
def: "The presence of multiple cysts in both kidneys." [https://orcid.org/0000-0002-0736-9199]
comment: Polycystic kidney disease (PKD) is a leading cause of end-stage renal disease. Most commonly, PKD arises as an inherited trait. Tremendous enlargement of both kidneys is characteristic of the autosomal dominant form of PKD, with up to hundreds or thousands of renal cysts. This term does not refer to the disease entity but rather to the finding of numerous cysts in both kidneys.
synonym: "Polycystic kidney disease" RELATED []
synonym: "Polycystic kidneys" EXACT []
xref: Fyler:4508
xref: SNOMEDCT_US:82525005
xref: UMLS:C0022680
xref: UMLS:C1567435
is_a: HP:0000107 ! Renal cyst

[Term]
id: HP:0000114
name: Proximal tubulopathy
alt_id: HP:0000806
def: "Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Proximal renal tubule defect" EXACT []
synonym: "Proximal renal tubulopathy" EXACT []
synonym: "Proximal tubular defect" EXACT []
synonym: "Proximal tubule dysfunction" EXACT []
synonym: "Selective proximal tubular damage" EXACT []
xref: UMLS:C1839603
is_a: HP:0000124 ! Renal tubular dysfunction

[Term]
id: HP:0000117
name: Renal phosphate wasting
def: "High urine phosphate in the presence of hypophosphatemia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased renal tubular phosphate reabsorption" EXACT []
synonym: "Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate" EXACT []
synonym: "Tubular phosphate reabsorption low" EXACT []
xref: UMLS:C1845169
is_a: HP:0012599 ! Abnormal urine phosphate concentration

[Term]
id: HP:0000118
name: Phenotypic abnormality
def: "A phenotypic abnormality." [https://orcid.org/0000-0002-0736-9199]
comment: This is the root of the phenotypic abnormality subontology of the HPO.
synonym: "Organ abnormality" EXACT []
xref: UMLS:C4021819
is_a: HP:0000001 ! All

[Term]
id: HP:0000119
name: Abnormality of the genitourinary system
alt_id: HP:0008658
alt_id: HP:0008688
alt_id: HP:0008704
alt_id: HP:0008713
def: "The presence of any abnormality of the genitourinary system." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the GU system" EXACT abbreviation []
synonym: "Genitourinary abnormality" EXACT []
synonym: "Genitourinary disease" RELATED []
synonym: "Genitourinary dysplasia" RELATED []
synonym: "Genitourinary tract anomalies" EXACT []
synonym: "Genitourinary tract malformation" EXACT []
synonym: "Urogenital abnormalities" EXACT []
synonym: "Urogenital anomalies" EXACT []
xref: SNOMEDCT_US:287085006
xref: SNOMEDCT_US:42030000
xref: UMLS:C0042063
xref: UMLS:C0080276
xref: UMLS:C4020895
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0000121
name: Nephrocalcinosis
def: "Nephrocalcinosis is the deposition of calcium salts in renal parenchyma." [https://orcid.org/0000-0002-0736-9199]
comment: Nephrocalcinosis can be intratubular or interstitial, and can be diagnosed by means of a radiologic exam (plain radiographs, ultrasonograms, or computed tomography scans) or via microscopic examination of the renal tissues. The term nephrocalcinosis most often applies to a generalized increase in renal calcium content.
synonym: "Increased calcium level in kidney" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Too much calcium deposited in kidneys" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:48638002
xref: UMLS:C0027709
xref: UMLS:C4280679
is_a: HP:0012210 ! Abnormal renal morphology

[Term]
id: HP:0000122
name: Unilateral renal agenesis
def: "A unilateral form of agenesis of the kidney." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent kidney on one side" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Missing one kidney" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Single kidney" EXACT layperson []
synonym: "Unilateral kidney agenesis" EXACT []
xref: Fyler:4509
xref: SNOMEDCT_US:55726006
xref: UMLS:C0266294
is_a: HP:0000104 ! Renal agenesis

[Term]
id: HP:0000123
name: Nephritis
alt_id: HP:0008634
def: "The presence of inflammation affecting the kidney." [https://orcid.org/0000-0002-0736-9199]
synonym: "Kidney inflammation" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:52845002
xref: UMLS:C0027697
is_a: HP:0012211 ! Abnormal renal physiology
is_a: HP:0012649 ! Increased inflammatory response

[Term]
id: HP:0000124
name: Renal tubular dysfunction
def: "Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid." []
synonym: "Abnormal function of filtrating structures in kidney" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Renal tubular defect" EXACT []
synonym: "Renal tubular disease" RELATED []
xref: SNOMEDCT_US:95568003
xref: UMLS:C0151747
is_a: HP:0012211 ! Abnormal renal physiology

[Term]
id: HP:0000125
name: Pelvic kidney
def: "A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Sacral kidney" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:56108007
xref: UMLS:C0221209
is_a: HP:0000086 ! Ectopic kidney

[Term]
id: HP:0000126
name: Hydronephrosis
def: "Severe distention of the kidney with dilation of the renal pelvis and calices." [https://orcid.org/0000-0002-0736-9199]
comment: Hydronephrosis can be caused by reflux or by retrograde pressure on the kidney when the flow of urine is obstructed.
xref: Fyler:4502
xref: SNOMEDCT_US:43064006
xref: UMLS:C0020295
is_a: HP:0010946 ! Dilatation of the renal pelvis

[Term]
id: HP:0000127
name: Renal salt wasting
def: "A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s)." [HPO_CONTRIBUTOR:Eurenomics_fschaefer]
synonym: "Loss of salt in urine" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Renal salt-wasting" EXACT []
synonym: "Salt wasting" EXACT []
synonym: "Salt-wasting" EXACT []
xref: UMLS:C1846347
is_a: HP:0012591 ! Abnormal urinary electrolyte concentration

[Term]
id: HP:0000128
name: Renal potassium wasting
def: "High urine potassium in the presence of hypokalemia." [https://orcid.org/0000-0002-0736-9199]
comment: A urine potassium assay can be used to determine the cause of reduced serum potassium (hypokalemia). Normally, the kidney will reabsorb more potassium in the presence of hypokalemia. Therefore, a low urine potassium can suggest gastrointestinal potassium loss, poor dietary intake, or a shift of potassium from the extracellular to the intracellular space. On the other hand, a high urine potassium in the face of low serum potassium indicated renal loss, referred to as renal potassium wasting.
synonym: "Renal K wasting" EXACT abbreviation []
xref: UMLS:C1846348
is_a: HP:0012598 ! Abnormal urine potassium concentration

[Term]
id: HP:0000130
name: Abnormality of the uterus
alt_id: HP:0008630
alt_id: HP:0008692
def: "An abnormality of the uterus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the uterus" EXACT layperson []
synonym: "Uterine abnormalities" EXACT layperson []
synonym: "Uterine malformations" EXACT layperson []
xref: SNOMEDCT_US:37849005
xref: UMLS:C0266383
is_a: HP:0000008 ! Abnormal morphology of female internal genitalia

[Term]
id: HP:0000131
name: Uterine leiomyoma
alt_id: HP:0008642
def: "The presence of a leiomyoma of the uterus." [https://orcid.org/0000-0002-0736-9199]
comment: Leiomyoma is a benign neoplasm derived from smooth muscle cells.
synonym: "Benign uterine leiomyomas" EXACT []
synonym: "Uterine fibroid" EXACT []
xref: NCIT:C3157
xref: SNOMEDCT_US:146801000119103
xref: SNOMEDCT_US:44598004
xref: SNOMEDCT_US:95315005
xref: UMLS:C0042133
is_a: HP:0010784 ! Uterine neoplasm

[Term]
id: HP:0000132
name: Menorrhagia
alt_id: HP:0100609
def: "Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days." [https://orcid.org/0000-0002-0736-9199, PMID:22594864]
synonym: "Abnormally heavy bleeding during menstruation" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormally heavy periods" EXACT layperson []
synonym: "Hypermenorrhea" EXACT [PMID:22594864]
xref: SNOMEDCT_US:386692008
xref: UMLS:C0025323
is_a: HP:0000140 ! Abnormality of the menstrual cycle
is_a: HP:0001892 ! Abnormal bleeding

[Term]
id: HP:0000133
name: Gonadal dysgenesis
alt_id: HP:0003243
def: "Gonadal dysgenesis is the name given to any of a multitude of conditions that can cause impaired development of the gonads, i.e., the testes or ovaries, or to the related phenotypic features. The term is to be avoided if possible for new annotations, and more specific terms should be chosen." [PMID:30969708]
comment: Gonadal dysgenesis is a genetic condition due to errors in cell division and or alterations in genetic material, leading to complete or partial loss of gonadal development. The development of gonadal dysgenesis begins early either at fertilization or shortly after in the early stages of the embryo and fetus.
synonym: "Mixed gonadal dysgenesis" EXACT []
synonym: "Pure gonadal dysgenesis" EXACT []
xref: SNOMEDCT_US:205681004
xref: SNOMEDCT_US:38804009
xref: SNOMEDCT_US:83579008
xref: SNOMEDCT_US:95219002
xref: UMLS:C0018051
xref: UMLS:C0018055
xref: UMLS:C0687149
is_a: HP:0000812 ! Abnormal internal genitalia

[Term]
id: HP:0000134
name: Female hypogonadism
def: "Decreased functionality of the female gonads, i.e., of the ovary." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypogonadism, female" EXACT []
xref: SNOMEDCT_US:16041008
xref: UMLS:C0271578
is_a: HP:0000135 ! Hypogonadism
is_a: HP:0031066 ! Abnormal ovarian physiology

[Term]
id: HP:0000135
name: Hypogonadism
def: "A decreased functionality of the gonad." [https://orcid.org/0000-0002-0736-9199]
comment: Reduced functioning of the gonads (ovaries or testes) with reduced production of sex hormones.
synonym: "Decreased activity of gonads" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:48130008
xref: UMLS:C0020619
is_a: HP:0000080 ! Abnormality of reproductive system physiology
is_a: HP:0008373 ! Puberty and gonadal disorders

[Term]
id: HP:0000136
name: Bifid uterus
def: "The presence of a bifid uterus." [https://orcid.org/0000-0002-0736-9199]
comment: A uterus that is divided into two lateral horns as a result of imperfect fusion of the paramesonephric ducts.
xref: UMLS:C1850327
is_a: HP:0031105 ! Abnormal uterus morphology

[Term]
id: HP:0000137
name: Abnormality of the ovary
def: "An abnormality of the ovary." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the ovaries" EXACT layperson []
synonym: "Abnormality of the ovary" EXACT layperson []
synonym: "Ovarian disease" RELATED layperson []
xref: SNOMEDCT_US:5552004
xref: UMLS:C0029928
xref: UMLS:C4021818
is_a: HP:0000008 ! Abnormal morphology of female internal genitalia

[Term]
id: HP:0000138
name: Ovarian cyst
alt_id: HP:0000146
def: "The presence of one or more cysts of the ovary." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cystic abnormalities of the ovaries" EXACT []
synonym: "Cystic ovaries" EXACT []
synonym: "Ovarian cyst" EXACT layperson []
synonym: "Ovarian cystic abnormality" EXACT []
xref: SNOMEDCT_US:79883001
xref: UMLS:C0029927
is_a: HP:0031065 ! Abnormal ovarian morphology

[Term]
id: HP:0000139
name: Uterine prolapse
alt_id: HP:0100824
def: "The presence of prolapse of the uterus." [https://orcid.org/0000-0002-0736-9199]
comment: The uterus (womb) is normally held in place by a muscles, tissue and ligaments. If these tissues can no longer support the uterus it can slip down from its normal position.
synonym: "Sagging uterus" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:24976005
xref: UMLS:C0042140
is_a: HP:0031105 ! Abnormal uterus morphology
is_a: HP:0100823 ! Genital hernia

[Term]
id: HP:0000140
name: Abnormality of the menstrual cycle
def: "An abnormality of the ovulation cycle." [https://orcid.org/0000-0002-0736-9199, PMID:23281358]
synonym: "Abnormality of the menstrual cycle" EXACT layperson []
synonym: "Menstrual abnormalities" RELATED layperson []
xref: UMLS:C3549779
xref: UMLS:C4025888
is_a: HP:0030012 ! Abnormal female reproductive system physiology

[Term]
id: HP:0000141
name: Amenorrhea
def: "Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months." [PMID:22594864]
synonym: "Abnormal absence of menstruation" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C2219717
is_a: HP:0000140 ! Abnormality of the menstrual cycle

[Term]
id: HP:0000142
name: Abnormal vagina morphology
alt_id: HP:0008650
def: "Any structural abnormality of the vagina." [https://orcid.org/0000-0002-0736-9199]
synonym: "Vaginal malformation" EXACT []
xref: UMLS:C1856023
is_a: HP:0000008 ! Abnormal morphology of female internal genitalia

[Term]
id: HP:0000143
name: Rectovaginal fistula
def: "The presence of a fistula between the vagina and the rectum." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormal connection between rectum and vagina" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MEDDRA:10051097 "Rectovaginal fistula"
xref: SNOMEDCT_US:65619001
xref: UMLS:C0034895
is_a: HP:0004320 ! Vaginal fistula
is_a: HP:0100590 ! Rectal fistula

[Term]
id: HP:0000144
name: Decreased fertility
synonym: "Abnormal fertility" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Decreased fertility" EXACT layperson []
xref: SNOMEDCT_US:17276009
xref: UMLS:C0520927
is_a: HP:0000080 ! Abnormality of reproductive system physiology

[Term]
id: HP:0000145
name: Transverse vaginal septum
synonym: "Transverse vaginal membrane" EXACT []
xref: UMLS:C1856006
is_a: HP:0001153 ! Septate vagina

[Term]
id: HP:0000147
name: Polycystic ovaries
alt_id: HP:0008644
alt_id: HP:0008657
synonym: "Polycystic ovary" EXACT []
synonym: "Polycystic ovary disease" RELATED []
synonym: "Sclerocystic ovaries" EXACT []
xref: SNOMEDCT_US:69878008
xref: UMLS:C0032460
xref: UMLS:C1136382
is_a: HP:0000138 ! Ovarian cyst

[Term]
id: HP:0000148
name: Vaginal atresia
def: "Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormally closed or absent vagina" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:87380008
xref: UMLS:C1321884
is_a: HP:0000142 ! Abnormal vagina morphology
is_a: HP:0001827 ! Genital tract atresia

[Term]
id: HP:0000149
name: Ovarian gonadoblastoma
def: "The presence of a gonadoblastoma of the ovary." [eMedicine:986581, https://orcid.org/0000-0002-0736-9199]
comment: Gonadoblastoma is a rare benign tumor that has the potential for malignant transformation and affects a subset of patients with an intersex disorder or disorder of sex development.
synonym: "Gonadoblastoma, female" EXACT []
xref: NCIT:C3754
xref: SNOMEDCT_US:716594002
xref: UMLS:C1518716
is_a: HP:0000150 ! Gonadoblastoma
is_a: HP:0100615 ! Ovarian neoplasm

[Term]
id: HP:0000150
name: Gonadoblastoma
alt_id: HP:0006745
def: "The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements." [https://orcid.org/0000-0002-0736-9199]
xref: NCIT:C3754
xref: SNOMEDCT_US:74751003
xref: UMLS:C0206661
is_a: HP:0000812 ! Abnormal internal genitalia
is_a: HP:0100728 ! Germ cell neoplasia

[Term]
id: HP:0000151
name: Aplasia of the uterus
def: "A congenital defect characterized by absence of the uterus. Aplasia refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue." []
synonym: "Absent uterus" EXACT layperson []
synonym: "uterus absent" EXACT layperson []
xref: SNOMEDCT_US:248942000
xref: UMLS:C0425913
is_a: HP:0008684 ! Aplasia/hypoplasia of the uterus

[Term]
id: HP:0000152
name: Abnormality of head or neck
def: "An abnormality of head and neck." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of head or neck" EXACT layperson []
synonym: "Head and neck abnormality" EXACT layperson []
xref: UMLS:C4021817
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0000153
name: Abnormality of the mouth
def: "An abnormality of the mouth." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormal mouth" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Abnormality of the mouth" EXACT layperson []
xref: SNOMEDCT_US:128334002
xref: UMLS:C0026633
is_a: HP:0000271 ! Abnormality of the face

[Term]
id: HP:0000154
name: Wide mouth
alt_id: HP:0000181
alt_id: HP:0002052
def: "Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective)." [PMID:19125428]
comment: The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces macrostomia, large mouth, and large oral aperture because these terms imply a wide and open mouth. The term should not be used to describe a patient with a lateral oral cleft.
subset: hposlim_core
synonym: "Broad mouth" EXACT layperson []
synonym: "Large mouth" EXACT layperson []
synonym: "Large oral aperture" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Macrostomia" EXACT []
synonym: "Wide mouth" EXACT layperson []
xref: SNOMEDCT_US:40159009
xref: UMLS:C0024433
is_a: HP:0011337 ! Abnormality of mouth size

[Term]
id: HP:0000155
name: Oral ulcer
def: "Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Mouth sore" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Mouth ulcer" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Oral mucosal ulceration" EXACT []
xref: SNOMEDCT_US:26284000
xref: UMLS:C0149745
is_a: HP:0031446 ! Erosion of oral mucosa

[Term]
id: HP:0000157
name: Abnormality of the tongue
def: "Any abnormality of the tongue." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormal tongue" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Abnormality of the tongue" EXACT layperson []
synonym: "Glossal abnormality" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Lingual abnormality" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Tongue abnormality" EXACT layperson []
xref: UMLS:C0878638
is_a: HP:0000153 ! Abnormality of the mouth

[Term]
id: HP:0000158
name: Macroglossia
alt_id: HP:0000203
def: "Increased length and width of the tongue." [PMID:19125428]
comment: Normal standards do not exist. Large size usually leads to protrusion of the tongue. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained. Micrognathia may give the false appearance of a large tongue.
subset: hposlim_core
synonym: "Abnormally large tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Glossal hypertrophy" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Hyperplasia of the tongue" EXACT []
synonym: "Hypertrophy of the tongue" EXACT []
synonym: "Increased size of tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Large tongue" EXACT layperson []
synonym: "Lingual hyperplasia" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Lingual hypertrophy" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Tongue hypertrophy" EXACT []
xref: SNOMEDCT_US:25273001
xref: UMLS:C0024421
is_a: HP:0003712 ! Skeletal muscle hypertrophy
is_a: HP:0030809 ! Abnormal tongue morphology

[Term]
id: HP:0000159
name: Abnormal lip morphology
def: "An abnormality of the lip." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal lip" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Abnormality of the lip" EXACT layperson []
synonym: "Anomaly of lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Lip abnormality" EXACT layperson []
synonym: "Malformation of lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C2183966
is_a: HP:0000163 ! Abnormal oral cavity morphology

[Term]
id: HP:0000160
name: Narrow mouth
alt_id: HP:0002261
alt_id: HP:0009095
alt_id: HP:0009096
def: "Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective)." [PMID:19125428]
comment: The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces microstomia, small oral aperture, and small mouth because the reduced opening of the mouth is secondary to reduced width.
subset: hposlim_core
synonym: "Microstomia" EXACT []
synonym: "Narrow mouth" EXACT layperson []
synonym: "Small mouth" EXACT layperson []
synonym: "Small oral aperture" EXACT []
xref: SNOMEDCT_US:14582003
xref: UMLS:C0026034
is_a: HP:0011337 ! Abnormality of mouth size

[Term]
id: HP:0000161
name: Median cleft upper lip
def: "A type of cleft lip presenting as a midline (median) gap in the upper lip." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Central cleft upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Midline cleft lip" EXACT []
xref: UMLS:C1850256
is_a: HP:0000204 ! Cleft upper lip

[Term]
id: HP:0000162
name: Glossoptosis
def: "Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly." [https://orcid.org/0000-0002-0736-9199, PMID:19125428]
comment: Presumably, use of the suffix ptosis refers to the situation where the patient is supine, and the displacement is downward. Strictly speaking, the term glossoptosis indicates falling of the tongue and thus can also be forward displacement; however by convention it is only used for backward displacement. Glossoptosis may cause obstruction of the airway.
subset: hposlim_core
synonym: "Lingual retraction" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Posterior displacement of the tongue" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Retraction of the tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:3639002
xref: UMLS:C0267048
xref: UMLS:C4280678
is_a: HP:0030809 ! Abnormal tongue morphology

[Term]
id: HP:0000163
name: Abnormal oral cavity morphology
def: "Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the oral cavity" EXACT layperson []
xref: UMLS:C4025887
is_a: HP:0031816 ! Abnormal oral morphology

[Term]
id: HP:0000164
name: Abnormality of the dentition
alt_id: HP:0001567
alt_id: HP:0006296
alt_id: HP:0006348
def: "Any abnormality of the teeth." [https://orcid.org/0000-0002-9338-3017]
comment: Any abnormality of the primary (deciduous) or permanent teeth.
subset: hposlim_core
synonym: "Abnormal dentition" EXACT layperson []
synonym: "Abnormal teeth" EXACT layperson []
synonym: "Abnormality of the teeth" RELATED layperson []
synonym: "Dental abnormalities" EXACT plural_form []
synonym: "Dental abnormality" EXACT layperson []
synonym: "Dental anomalies" EXACT plural_form []
synonym: "Dental problem" RELATED layperson []
synonym: "Dental problems" RELATED plural_form []
synonym: "Tooth abnormalities" RELATED layperson []
xref: SNOMEDCT_US:422775003
xref: UMLS:C0040427
xref: UMLS:C0262444
is_a: HP:0000163 ! Abnormal oral cavity morphology

[Term]
id: HP:0000166
name: Severe periodontitis
def: "A severe form of periodontitis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Severe gum disease" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Severe periodontal disease" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Severe pyorrhea" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025886
is_a: HP:0000704 ! Periodontitis

[Term]
id: HP:0000168
name: Abnormality of the gingiva
def: "Any abnormality of the gingiva (also known as gums)." [https://orcid.org/0000-0002-0736-9199]
comment: The gingiva consists of the mucosal tissue that lies over the alveolar bone and around the base of the teeth.
subset: hposlim_core
synonym: "Abnormality of the gums" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Gingival abnormality" EXACT []
xref: UMLS:C4021816
is_a: HP:0011830 ! Abnormal oral mucosa morphology

[Term]
id: HP:0000169
name: Gingival fibromatosis
def: "The presence of fibrosis of the gingiva." [https://orcid.org/0000-0002-0736-9199]
comment: Gingival fibromatosis is characterized by a slowly progressive benign enlargement of the oral gingival tissues. Both genetic and pharmacologically induced forms of gingival fibromatosis are known. The most common genetic form, hereditary gingival fibromatosis (HGF), is usually transmitted as an autosomal dominant trait, although sporadic cases are common and autosomal recessive inheritance has been reported.
subset: hposlim_core
synonym: "Gingival fibroma" EXACT []
synonym: "Gingival fibrous nodules" EXACT [https://orcid.org/0000-0002-0736-9199]
synonym: "Hereditary gingival fibromatosis" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Idiopathic gingival hyperplasia" NARROW [https://orcid.org/0000-0001-5889-4463]
xref: NCIT:C3041
xref: SNOMEDCT_US:109620006
xref: SNOMEDCT_US:58569000
xref: UMLS:C0016049
xref: UMLS:C0399440
xref: UMLS:C4280677
is_a: HP:0000168 ! Abnormality of the gingiva
is_a: HP:0010614 ! Fibroma

[Term]
id: HP:0000171
name: Microglossia
alt_id: HP:0000226
alt_id: HP:0009079
def: "Decreased length and width of the tongue." [PMID:19125428]
comment: Normal standards do not exist. The term aglossia is often used for extremely small tongue, but a nubbin of tongue tissue is almost always present and aglossia in sensu strictu is extremely rare. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained.
subset: hposlim_core
synonym: "Abnormally small tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of tongue" EXACT []
synonym: "Hypoglossia" EXACT []
synonym: "Hypoplasia of the tongue" EXACT []
synonym: "Hypoplastic tongue" EXACT []
synonym: "Lingual hypoplasia" EXACT []
synonym: "Rudimentary tongue" EXACT []
synonym: "Small tongue" EXACT []
synonym: "Underdevelopment of the tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:249380003
xref: SNOMEDCT_US:32614006
xref: UMLS:C0025988
xref: UMLS:C0426492
is_a: HP:0010295 ! Aplasia/Hypoplasia of the tongue

[Term]
id: HP:0000172
name: Abnormal uvula morphology
def: "Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of palatine uvula" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the uvula" EXACT layperson []
xref: UMLS:C4025885
is_a: HP:0100736 ! Abnormal soft palate morphology

[Term]
id: HP:0000174
name: Abnormal palate morphology
def: "Any abnormality of the palate, i.e., of roof of the mouth." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the palate" EXACT layperson []
synonym: "Abnormality of the roof of the mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Palatal anomaly" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Palate abnormality" EXACT []
xref: UMLS:C4021815
is_a: HP:0000163 ! Abnormal oral cavity morphology

[Term]
id: HP:0000175
name: Cleft palate
alt_id: HP:0410004
def: "Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate)." [https://orcid.org/0000-0002-0736-9199]
comment: Cleft palate is a developmental defect that occurs between the 7th and 12th week of pregnancy. Normally, the palatine processes fuse during this time to form the soft and hard palate. A failure of fusion results in a cleft palate. The clinical spectrum ranges from bifid uvula, to (incomplete or complete) cleft of the soft palate, up to (complete or incomplete) cleft of both the soft and hard palate.
subset: hposlim_core
synonym: "Cleft hard and soft palate" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Cleft of hard and soft palate" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Cleft of palate" EXACT []
synonym: "Cleft palate" EXACT layperson []
synonym: "Cleft roof of mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Cleft secondary palate" BROAD []
synonym: "Palatoschisis" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Uranostaphyloschisis" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: Fyler:4876
xref: SNOMEDCT_US:63567004
xref: SNOMEDCT_US:87979003
xref: UMLS:C0008925
xref: UMLS:C2981150
is_a: HP:0000174 ! Abnormal palate morphology
is_a: HP:0000202 ! Orofacial cleft

[Term]
id: HP:0000176
name: Submucous cleft hard palate
alt_id: HP:0000208
alt_id: HP:0002746
alt_id: HP:0009091
def: "Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate." [https://orcid.org/0000-0002-0736-9199, PMID:19779505]
synonym: "Partial thickness cleft hard palate" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:43437003
xref: UMLS:C0432103
xref: UMLS:C4020894
is_a: HP:0410005 ! Cleft hard palate
is_a: HP:5201016 ! Submucous cleft palate

[Term]
id: HP:0000177
name: Abnormal upper lip morphology
def: "An abnormality of the upper lip." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of upper lip" EXACT layperson []
synonym: "Anomaly of the upper lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the upper lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the upper lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025884
is_a: HP:0000159 ! Abnormal lip morphology

[Term]
id: HP:0000178
name: Abnormal lower lip morphology
def: "An abnormality of the lower lip." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of lower lip" EXACT layperson []
synonym: "Anomaly of the lower lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the lower lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the lower lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025883
is_a: HP:0000159 ! Abnormal lip morphology

[Term]
id: HP:0000179
name: Thick lower lip vermilion
alt_id: HP:0000170
def: "Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective)." [https://orcid.org/0000-0002-0736-9199, PMID:19125428]
comment: Normal values for the height of the vermilion are available [Farkas, 1981] but measurements are not commonly used. Most clinicians determine this feature subjectively. The lower lip is typically thicker than the upper one. The height of the vermilion of the lower lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. When the vermilion is thick, it is more convex and more everted than usual on profile view, but that should be assessed separately.
synonym: "Full lower lip" RELATED layperson []
synonym: "Full lower lip vermilion" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased height of lower lip vermilion" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased volume of lower lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased volume of lower lip vermilion" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Plump lower lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Prominent lower lip" EXACT layperson []
synonym: "Prominent lower lip vermilion" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Thick lower lip" RELATED layperson []
synonym: "Thick red part of the lower lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thick vermilion border of lower lip" EXACT []
xref: UMLS:C1839739
xref: UMLS:C2053437
is_a: HP:0000178 ! Abnormal lower lip morphology
is_a: HP:0012471 ! Thick vermilion border

[Term]
id: HP:0000180
name: Lobulated tongue
def: "Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour." [PMID:19125428]
comment: Lobulated tongue can bilobed, trilobed, or show multiple lobes.
subset: hposlim_core
synonym: "Bumpy tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Lingual lobules" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Lobulate tongue" EXACT []
xref: SNOMEDCT_US:253752000
xref: UMLS:C0431564
is_a: HP:0030809 ! Abnormal tongue morphology

[Term]
id: HP:0000182
name: Movement abnormality of the tongue
synonym: "Abnormality of lingual movement" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Movement abnormality of the tongue" EXACT layperson []
xref: UMLS:C4025882
is_a: HP:0030810 ! Abnormal tongue physiology

[Term]
id: HP:0000183
name: Tongue muscle weakness
def: "Reduced strength of the tongue musculature, resulting in difficulties moving the tongue and possible accompanied by dysarthria or dysphagia." []
is_a: HP:0000182 ! Movement abnormality of the tongue

[Term]
id: HP:0000185
name: Cleft soft palate
def: "Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cleft muscular palate" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Cleft of soft palate" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Cleft velum" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:253997002
xref: UMLS:C0432098
is_a: HP:0000175 ! Cleft palate
is_a: HP:0100736 ! Abnormal soft palate morphology

[Term]
id: HP:0000187
name: Broad alveolar ridges
synonym: "Broad alveolar margins" EXACT []
synonym: "Broad alveolar processes of jaw" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Wide alveolar margins" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Wide alveolar processes of jaw" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Wide gum ridges" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Widened alveolar ridges" EXACT []
xref: UMLS:C1857500
xref: UMLS:C4280675
is_a: HP:0006477 ! Abnormal alveolar ridge morphology

[Term]
id: HP:0000188
name: Short upper lip
alt_id: HP:0200087
def: "Decreased width of the upper lip." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased height of upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased upper labial height" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased upper labial length" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased vertical length of upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Short upper lip" EXACT layperson []
synonym: "Shortening of upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Vertical deficiency of upper lip" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1848977
is_a: HP:0000177 ! Abnormal upper lip morphology

[Term]
id: HP:0000189
name: Narrow palate
def: "Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective)." [PMID:19125428]
comment: Palatal width is measured as the distance between the maxillary first permanent molar on the right and left sides, at the lingual cervical line, using a specific device. Palate width is typically assessed subjectively in routine clinical practice. Narrowing is often associated with a High palate, but this should be assessed and coded separately. Gingival overgrowth can give the impression of a narrow palate but should be distinguished and coded separately. The term gothic palate is used to indicate that the roof of the palate is not round but rather has an inverted V-shape, and therefore, only the upper part of the palate is narrow.
subset: hposlim_core
synonym: "Decreased palatal width" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased transverse dimension of palate" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Narrow palate" EXACT layperson []
synonym: "Narrow roof of mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1398312
is_a: HP:0000174 ! Abnormal palate morphology

[Term]
id: HP:0000190
name: Abnormal oral frenulum morphology
def: "An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity." [https://orcid.org/0000-0002-0736-9199, PMID:23633765]
comment: A frenulum is a small frenum. There are several frena that are usually present in a normal oral cavity, most notably the maxillary labial frenum, the mandibular labial frenum, and the lingual frenum.
synonym: "Abnormality of frenum of tongue" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of lingual frenum" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of oral frenula" EXACT []
synonym: "Abnormality of oral frenum" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025881
is_a: HP:0000163 ! Abnormal oral cavity morphology

[Term]
id: HP:0000191
name: Accessory oral frenulum
def: "Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip." [PMID:19125428]
comment: This finding is assessed by gently retracting the oral mucosa from the alveolar ridge. Typically there is a single maxillary and a single mandibular frenulum located in the midline between the two central incisors. Abnormalities of the alveolar ridges may accompany accessory frenula, but these should be assessed separately.
subset: hposlim_core
synonym: "Accessory oral frenum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Extra oral frenulum" EXACT []
synonym: "Extra oral frenum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Multiple oral frenula" EXACT []
synonym: "Supernumerary oral frenulum" EXACT []
synonym: "Supernumerary oral frenum" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4021814
is_a: HP:0000190 ! Abnormal oral frenulum morphology

[Term]
id: HP:0000193
name: Bifid uvula
alt_id: HP:0000173
alt_id: HP:0410032
def: "Uvula separated into two parts most easily seen at the tip." [PMID:19125428]
subset: hposlim_core
synonym: "Bifid palatine uvula" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Cleft of uvula" EXACT []
synonym: "Cleft uvula" EXACT []
synonym: "Forked uvula" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Split uvula" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Uvula bifida" EXACT []
xref: SNOMEDCT_US:18910001
xref: UMLS:C0266122
is_a: HP:0000172 ! Abnormal uvula morphology

[Term]
id: HP:0000194
name: Open mouth
def: "A facial appearance characterized by a permanently or nearly permanently opened mouth." [https://orcid.org/0000-0002-0736-9199]
synonym: "Gaped jawed appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Gaped mouthed appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Open mouth" EXACT layperson []
synonym: "Open mouth appearance" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Slack jawed appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:262016004
xref: UMLS:C0240379
is_a: HP:0011338 ! Abnormality of mouth shape

[Term]
id: HP:0000196
name: Lower lip pit
def: "Depression located on the vermilion of the lower lip, usually paramedian." [https://orcid.org/0009-0006-4530-3154, PMID:19125428]
comment: A lip pit may be connected by a fistula to mucous minor salivary glands in the lower lip. In addition, a lip pit may on occasion be seen with a surrounding tissue elevation (mound). Pits located at the labial commisure (cheilon) are distinct from lip pits (see Commissural pit).
xref: UMLS:C1861544
is_a: HP:0000178 ! Abnormal lower lip morphology
is_a: HP:0100269 ! Paramedian lip pit

[Term]
id: HP:0000197
name: Abnormal parotid gland morphology
def: "Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of parotid gland" EXACT []
synonym: "Anomaly of the parotid gland" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025880
is_a: HP:0010286 ! Abnormal salivary gland morphology

[Term]
id: HP:0000198
name: Absence of Stensen duct
synonym: "Absence of parotid duct" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Absent stensen duct" EXACT []
synonym: "Agenesis of parotid duct" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Agenesis of stensen duct" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of parotid duct" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of stensen duct" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing parotid duct" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing stensen duct" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1858569
xref: UMLS:C4280674
is_a: HP:0000197 ! Abnormal parotid gland morphology

[Term]
id: HP:0000199
name: Tongue nodules
synonym: "Lingual nodules" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C0241438
is_a: HP:0030809 ! Abnormal tongue morphology

[Term]
id: HP:0000200
name: Short lingual frenulum
def: "The presence of an abnormally short lingual frenulum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Deficiency of lingual frenulum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplasia of lingual frenulum" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplasia of lingual frenum" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplasia of tongue frenulum" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplasia of tongue frenum" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Short lingual frenum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Short tongue frenulum" EXACT []
synonym: "Short tongue frenum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Tight lingual frenulum" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:249388005
xref: UMLS:C0426501
xref: UMLS:C4280673
is_a: HP:0000190 ! Abnormal oral frenulum morphology

[Term]
id: HP:0000201
name: Pierre-Robin sequence
def: "Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate." [https://orcid.org/0000-0002-0736-9199]
synonym: "Pierre Robin sequence" EXACT []
synonym: "Pierre-robin anomaly" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Pierre-robin deformity" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Pierre-robin malformation" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Robin sequence" EXACT []
xref: SNOMEDCT_US:4602007
xref: UMLS:C0031900
is_a: HP:0031816 ! Abnormal oral morphology

[Term]
id: HP:0000202
name: Orofacial cleft
def: "The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://www.cdc.gov/ncbddd/birthdefects/surveillancemanual/chapters/chapter-4/chapter4-6.html, PMID:21331089]
synonym: "Cleft lip, cleft palate" NARROW []
synonym: "Cleft lip/palate" RELATED []
synonym: "Cleft of the mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Oral cleft" EXACT []
synonym: "Oral clefting" EXACT []
xref: SNOMEDCT_US:253983005
xref: SNOMEDCT_US:66948001
xref: UMLS:C0158646
xref: UMLS:C4021813
is_a: HP:0000163 ! Abnormal oral cavity morphology
is_a: HP:5201015 ! Craniofacial cleft

[Term]
id: HP:0000204
name: Cleft upper lip
def: "A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cheiloschisis of upper lip" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Cleft of upper lip" RELATED layperson []
synonym: "Cleft upper lip" EXACT layperson []
synonym: "Harelip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: Fyler:4875
xref: SNOMEDCT_US:80281008
xref: UMLS:C0008924
is_a: HP:0000177 ! Abnormal upper lip morphology
is_a: HP:0410030 ! Cleft lip

[Term]
id: HP:0000205
name: Pursed lips
def: "An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance." [https://orcid.org/0000-0002-0736-9199]
synonym: "Pursed lips" EXACT layperson []
synonym: "Tightly closed lips" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1832130
is_a: HP:0011338 ! Abnormality of mouth shape

[Term]
id: HP:0000206
name: Glossitis
def: "Inflammation of the tongue." [https://orcid.org/0009-0006-4530-3154]
subset: hposlim_core
synonym: "Inflammation of the tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Lingual inflammation" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Smooth swollen tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:45534005
xref: UMLS:C0017675
is_a: HP:0030809 ! Abnormal tongue morphology

[Term]
id: HP:0000207
name: Triangular mouth
def: "The presence of a triangular form of the mouth." [https://orcid.org/0000-0002-0736-9199]
synonym: "Triangular mouth" EXACT layperson []
synonym: "Triangular shaped mouth" EXACT layperson []
synonym: "Triangular shaped oral aperture" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1849341
is_a: HP:0011338 ! Abnormality of mouth shape

[Term]
id: HP:0000211
name: Trismus
def: "Limitation in the ability to open the mouth." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decrease in jaw mobility" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decrease in jaw movement" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decrease in jaw opening" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decrease in mandibular mobility" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Decrease in mandibular movement" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Decrease in mandibular opening" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Limited jaw mobility" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Limited jaw movement" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Limited jaw opening" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Limited mandibular mobility" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Limited mandibular opening" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Limited mouth opening" BROAD layperson []
synonym: "Lockjaw" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Pain of muscles of mastication" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:87866006
xref: UMLS:C0041105
xref: UMLS:C1848474
xref: UMLS:C4228933
xref: UMLS:C4280672
is_a: HP:0000277 ! Abnormal mandible morphology

[Term]
id: HP:0000212
name: Gingival overgrowth
alt_id: HP:0000195
def: "Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown." [PMID:19125428]
comment: This finding is to be distinguished from overgrowth of the alveolar ridge.
subset: hposlim_core
synonym: "Gingival enlargement" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Gingival hyperplasia" EXACT []
synonym: "Gum enlargement" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Gum hypertrophy" EXACT []
synonym: "Hypertrophic gingivitis" EXACT []
synonym: "Oral soft tissue hyperplasia" RELATED []
xref: SNOMEDCT_US:441787004
xref: SNOMEDCT_US:441798003
xref: SNOMEDCT_US:54711002
xref: UMLS:C0017566
xref: UMLS:C0017567
xref: UMLS:C0376480
is_a: HP:0000168 ! Abnormality of the gingiva

[Term]
id: HP:0000214
name: Lip telangiectasia
def: "Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips." [https://orcid.org/0000-0002-0736-9199]
synonym: "Angioectasias of the lip" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Labial angioectasias" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Labial telangiectasia" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Lip telangiectases" EXACT []
synonym: "Spider veins of the lip" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Telangiectasia of the lips" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1857697
xref: UMLS:C4280670
xref: UMLS:C4280671
is_a: HP:0000159 ! Abnormal lip morphology
is_a: HP:0000228 ! Oral cavity telangiectasia

[Term]
id: HP:0000215
name: Thick upper lip vermilion
alt_id: HP:0000231
def: "Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective)." [PMID:19125428]
comment: Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or utilize the Likert scale of Astley and Clarren [2000] (Fig. 17). The vermilion of the upper lip varies considerably among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thickness of the upper lip vermilion is sensitive to the facial expression. On profile view, a thick vermilion is more convex than usual.
subset: hposlim_core
synonym: "Full upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Full upper lip vermilion" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased height of upper lip vermilion" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased volume of upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased volume of upper lip vermilion" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Plump upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Prominent upper lip" EXACT layperson []
synonym: "Prominent upper lip vermilion" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Thick red part of the upper lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thick upper lip" EXACT layperson [https://orcid.org/0009-0006-4530-3154]
synonym: "Thick vermilion border of upper lip" EXACT []
xref: UMLS:C1846423
is_a: HP:0011339 ! Abnormality of upper lip vermillion
is_a: HP:0012471 ! Thick vermilion border

[Term]
id: HP:0000216
name: Broad secondary alveolar ridge
synonym: "Secondary alveolar ridges" EXACT []
xref: UMLS:C1839276
is_a: HP:0000187 ! Broad alveolar ridges

[Term]
id: HP:0000217
name: Xerostomia
alt_id: HP:0002709
alt_id: HP:0100756
def: "Dryness of the mouth due to salivary gland dysfunction." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Decreased salivary flow" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Dry mouth" EXACT layperson []
synonym: "Dry mouth syndrome" EXACT layperson []
synonym: "Reduced salivation" EXACT layperson []
xref: SNOMEDCT_US:300268000
xref: SNOMEDCT_US:56893005
xref: SNOMEDCT_US:87715008
xref: UMLS:C0043352
is_a: HP:0100755 ! Abnormality of salivation

[Term]
id: HP:0000218
name: High palate
alt_id: HP:0000156
alt_id: HP:0009080
alt_id: HP:0009082
alt_id: HP:0009097
def: "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [PMID:19125428]
comment: The measuring device for this assessment is described in (Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers). A high palate is often associated with a narrow palate. However, a narrow palate can easily give a false appearance of a high palate. Height and width of the palate should be assessed and coded separately. We do not recommend the subjective determination because this term can be overused and applied inaccurately.
synonym: "Elevated palate" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "High arched palate" EXACT []
synonym: "High palate" EXACT layperson []
synonym: "High, arched palate" EXACT []
synonym: "High-arched palate" EXACT []
synonym: "Increased palatal height" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Ogival palate" RELATED []
synonym: "Palate high-arched" EXACT []
synonym: "Palate, high-arched" EXACT []
xref: SNOMEDCT_US:27272007
xref: UMLS:C0240635
is_a: HP:0000174 ! Abnormal palate morphology

[Term]
id: HP:0000219
name: Thin upper lip vermilion
alt_id: HP:0200062
alt_id: HP:0200086
def: "Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective)." [PMID:19125428]
comment: Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or use the Likert scale for Caucasians and African Americans [Astley and Clarren, 2000]. The height of the vermilion of the upper lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thinness of the upper lip vermilion is sensitive to facial expression. On profile view, a thin vermilion is less convex than usual. A thin upper lip vermilion may be associated with a smooth philtrum and an absence of the Cupid's bow, but these should be assessed separately.
subset: hposlim_core
synonym: "Decreased height of upper lip vermilion" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased volume of upper lip" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased volume of upper lip vermilion" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Thin red part of the upper lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thin upper lip" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Thin upper lips" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Thin vermilion border of upper lip" EXACT []
xref: UMLS:C1865017
is_a: HP:0000233 ! Thin vermilion border
is_a: HP:0011339 ! Abnormality of upper lip vermillion

[Term]
id: HP:0000220
name: Velopharyngeal insufficiency
def: "Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech." [HPO_CONTRIBUTOR:DDD_jhurst]
synonym: "Velopharyngeal dysfunction" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Velopharyngeal incompetence" EXACT layperson []
xref: SNOMEDCT_US:229727006
xref: SNOMEDCT_US:232416001
xref: SNOMEDCT_US:278714002
xref: UMLS:C0042454
xref: UMLS:C4280669
is_a: HP:0100736 ! Abnormal soft palate morphology

[Term]
id: HP:0000221
name: Furrowed tongue
def: "Accentuation of the grooves on the dorsal surface of the tongue." [PMID:19125428]
comment: Usually there is a midline groove of the tongue with smaller radiating grooves. The deep furrows may extend to the lateral borders. They may follow a regular geometric pattern or be irregular. A furrowed tongue occurs in 10-25% of individuals but is rare in children.
subset: hposlim_core
synonym: "Fissured tongue" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Grooved tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Lingua plicata" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Lingual furrow" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Plicated tongue" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Prominent tongue grooves" EXACT []
synonym: "Scrotal tongue" EXACT []
xref: SNOMEDCT_US:52368004
xref: UMLS:C0040412
is_a: HP:0030809 ! Abnormal tongue morphology

[Term]
id: HP:0000222
name: Gingival hyperkeratosis
alt_id: HP:0007539
def: "Hyperkeratosis of the gingiva." [https://orcid.org/0000-0002-9338-3017]
comment: The condition results in the teeth being partially or totally engulfed by keratinized gingiva, causing esthetic and functional problems.
synonym: "Hyperkeratosis, gingival" EXACT []
xref: UMLS:C1857013
is_a: HP:0000168 ! Abnormality of the gingiva
is_a: HP:0000962 ! Hyperkeratosis

[Term]
id: HP:0000223
name: Abnormality of taste sensation
synonym: "Abnormality of taste sensation" EXACT layperson []
xref: UMLS:C4025879
is_a: HP:0012638 ! Abnormal nervous system physiology
is_a: HP:0030810 ! Abnormal tongue physiology

[Term]
id: HP:0000224
name: Hypogeusia
def: "A decreased ability to perceive flavor." []
synonym: "Decreased taste" EXACT layperson []
synonym: "Decreased taste sensation" EXACT layperson []
xref: SNOMEDCT_US:697990000
xref: UMLS:C0151934
is_a: HP:0000223 ! Abnormality of taste sensation

[Term]
id: HP:0000225
name: Gingival bleeding
alt_id: HP:0000167
def: "Hemorrhage affecting the gingiva." [https://orcid.org/0000-0002-9338-3017]
synonym: "Bleeding gums" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Gingival haemorrhage" EXACT uk_spelling []
synonym: "Gingival hemorrhage" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Gingivorrhagia" EXACT []
xref: SNOMEDCT_US:86276007
xref: UMLS:C0017565
is_a: HP:0000168 ! Abnormality of the gingiva
is_a: HP:0001892 ! Abnormal bleeding

[Term]
id: HP:0000227
name: Tongue telangiectasia
def: "Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue." [https://orcid.org/0000-0002-0736-9199]
synonym: "Angioectasias of the tongue" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Lingual angioectasias" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Lingual telangiectasia" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Spider veins of the tongue" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025878
xref: UMLS:C4280668
is_a: HP:0000228 ! Oral cavity telangiectasia
is_a: HP:0030809 ! Abnormal tongue morphology

[Term]
id: HP:0000228
name: Oral cavity telangiectasia
def: "Presence of telangiectases in the oral cavity." [https://orcid.org/0000-0002-0736-9199]
synonym: "Angioectasias of the mouth" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Angioectasias of the oral cavity" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Oral cavity teleangiectasia" EXACT []
synonym: "Spider veins of the mouth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Spider veins of the oral cavity" RELATED [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025877
xref: UMLS:C4280667
is_a: HP:0011830 ! Abnormal oral mucosa morphology
is_a: HP:0100579 ! Mucosal telangiectasiae

[Term]
id: HP:0000230
name: Gingivitis
def: "Inflammation of the gingiva." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Gingival inflammation" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Inflamed gums" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Red and swollen gums" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:66383009
xref: UMLS:C0017574
is_a: HP:0000168 ! Abnormality of the gingiva

[Term]
id: HP:0000232
name: Everted lower lip vermilion
alt_id: HP:0000184
alt_id: HP:0002264
alt_id: HP:0002712
alt_id: HP:0004665
alt_id: HP:0009086
alt_id: HP:0009093
def: "An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view." [PMID:19125428]
comment: In frontal view, with the face relaxed, the apparent height of the lower lip vermilion is excessive and the lower incisors may be visible. On profile view, the vermilion is more convex than usual. An everted lower lip may be viewed as pouting, but this designation is a functional term.
subset: hposlim_core
synonym: "Drooping lower lip" EXACT layperson []
synonym: "Eclabium of lower lip" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Everted lower lip" EXACT []
synonym: "Everted prominent lower lip" EXACT []
synonym: "Outward turned lower lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Protruding lower lip" RELATED layperson []
xref: UMLS:C1853246
xref: UMLS:C1866234
is_a: HP:0000178 ! Abnormal lower lip morphology
is_a: HP:0012472 ! Eclabion

[Term]
id: HP:0000233
name: Thin vermilion border
alt_id: HP:0000213
def: "Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips)." [https://orcid.org/0000-0002-0736-9199, PMID:19125428]
comment: The vermilion is the red part of the lips, and the vermilion border is the rim of paler skin that demarcates the vermilion from the rest of the skin of the face.
synonym: "Decreased volume of lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased volume of lip vermillion" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Thin lips" EXACT layperson []
synonym: "Thin vermilion borders" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Thin vermillion" EXACT []
xref: SNOMEDCT_US:301348000
xref: UMLS:C0578038
is_a: HP:0000159 ! Abnormal lip morphology

[Term]
id: HP:0000234
name: Abnormality of the head
def: "An abnormality of the head." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal head" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Abnormality of the head" EXACT layperson []
synonym: "Head abnormality" EXACT layperson []
xref: UMLS:C4021812
is_a: HP:0000152 ! Abnormality of head or neck

[Term]
id: HP:0000235
name: Abnormal cranial suture/fontanelle morphology
def: "Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments)." [https://orcid.org/0000-0002-0736-9199, PMID:12825844, PMID:31194354]
comment: Fontanels are the fibrous, membrane-covered gaps created when more than two cranial bones are juxtaposed, as opposed to sutures, which are narrow seams of fibrous connective tissue that separate the flat bones of the skull. At birth, an infant has six fontanels (the anterior and posterior, two mastoid, and two sphenoid). The anterior fontanel is the largest and most important for clinical evaluation. The average size of the anterior fontanel is 2.1 cm, and the median time of closure is 13.8 months.
synonym: "Abnormality of the fontanelles or cranial sutures" EXACT []
xref: UMLS:C4025876
is_a: HP:0000929 ! Abnormal skull morphology

[Term]
id: HP:0000236
name: Abnormal anterior fontanelle morphology
def: "An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the anterior fontanelle" EXACT []
synonym: "Abnormality of the forehead soft spot" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025875
is_a: HP:0011328 ! Abnormal fontanelle morphology

[Term]
id: HP:0000237
name: Small anterior fontanelle
def: "Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small anterior fontanel" EXACT []
synonym: "Small forehead fontanel" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1859455
is_a: HP:0000236 ! Abnormal anterior fontanelle morphology

[Term]
id: HP:0000238
name: Hydrocephalus
alt_id: HP:0007189
alt_id: HP:0008503
def: "Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation." [https://orcid.org/0000-0002-0736-9199, PMID:18211712, PMID:19410151]
comment: Hydrocephalus results from an imbalance between the rate of production of cerebrospinal fluid (CSF), mainly in the choroid plexus, and its reabsorption in the subarchnoid space over brain and spinal cord.
synonym: "Hydrocephaly" EXACT []
synonym: "Nonsyndromal hydrocephalus" EXACT []
synonym: "Too much cerebrospinal fluid in the brain" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:230745008
xref: UMLS:C0020255
is_a: HP:0002118 ! Abnormal cerebral ventricle morphology
is_a: HP:0002921 ! Abnormal cerebrospinal fluid morphology

[Term]
id: HP:0000239
name: Large fontanelles
alt_id: HP:0004473
def: "In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
comment: There are six membrane-covered openings between the cranial sutures in the incompletely ossified skull of the fetus or newborn infant that normally close sometime after birth (anterior fontanel, cranial fontanel, mastoid fontanel, posterior fontanel, sphenoidal fontanel).
synonym: "Enlarged fontanelles" EXACT []
synonym: "Large bregma sutures" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Large fontanel" EXACT []
synonym: "Large fontanelle" EXACT []
synonym: "Large fontanels" EXACT []
synonym: "Large, late-closing fontanelle" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Persistent wide fontanel" EXACT []
synonym: "Wide bregma sutures" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Wide fontanelles" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:276709006
xref: UMLS:C0456132
xref: UMLS:C4072820
xref: UMLS:C4072821
xref: UMLS:C4072822
is_a: HP:0011328 ! Abnormal fontanelle morphology

[Term]
id: HP:0000240
name: Abnormality of skull size
def: "Any abnormality of the size of the skull." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of cranium size" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of head size" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of skull size" EXACT layperson []
xref: UMLS:C4025874
is_a: HP:0000929 ! Abnormal skull morphology

[Term]
id: HP:0000242
name: Parietal bossing
alt_id: HP:0004641
def: "Parietal bossing is a marked prominence in the parietal region." [https://orcid.org/0000-0002-0736-9199]
synonym: "Biparietal bossing" EXACT []
synonym: "Bossing of parietal bone" EXACT []
xref: UMLS:C1857126
is_a: HP:0002696 ! Abnormal parietal bone morphology

[Term]
id: HP:0000243
name: Trigonocephaly
def: "Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput." [PMID:19125436]
comment: This shape should be assessed from above, with the examiner looking down on the head of the patient. Trigonocephaly can be caused by premature fusion of the metopic suture.
subset: hposlim_core
synonym: "Triangular cranium shape" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Triangular head shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Triangular skull shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Wedge shaped cranium" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Wedge shaped head" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Wedge shaped skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:28740008
xref: UMLS:C0265535
xref: UMLS:C4280665
xref: UMLS:C4280666
is_a: HP:0002683 ! Abnormal calvaria morphology

[Term]
id: HP:0000244
name: Brachyturricephaly
def: "Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region." [PMID:8460563]
synonym: "Brachy-turricephaly" EXACT [PMID:8460563]
synonym: "High, prominent forehead" EXACT layperson [https://orcid.org/0000-0002-9353-5498]
synonym: "Turribrachycephaly" EXACT []
xref: UMLS:C1857484
is_a: HP:0000248 ! Brachycephaly
is_a: HP:0000262 ! Turricephaly

[Term]
id: HP:0000245
name: Abnormal paranasal sinus morphology
def: "Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the paranasal sinuses" RELATED []
synonym: "Abnormality of the sinuses" BROAD layperson []
synonym: "Abnormality of the sinuses of the head" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025873
is_a: HP:0002087 ! Abnormality of the upper respiratory tract
is_a: HP:0011821 ! Abnormal facial skeleton morphology

[Term]
id: HP:0000246
name: Sinusitis
def: "Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Sinus disease" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Sinus infection" BROAD layperson []
synonym: "Sinus inflammation" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:36971009
xref: SNOMEDCT_US:7393007
xref: UMLS:C0030469
xref: UMLS:C0037199
is_a: HP:0000245 ! Abnormal paranasal sinus morphology
is_a: HP:0012649 ! Increased inflammatory response

[Term]
id: HP:0000248
name: Brachycephaly
alt_id: HP:0002258
alt_id: HP:0004479
alt_id: HP:0008512
def: "An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width." [https://orcid.org/0000-0002-0736-9199, PMID:19125436]
comment: Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms also have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Brachycephaly is distinct from Flat occiput, but both can be present in the same individual and should be coded separately.
subset: hposlim_core
synonym: "Broad cranium shape" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Broad head shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Broad skull shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Short and broad skull" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Wide cranium shape" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Wide head shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Wide skull shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:13649004
xref: UMLS:C0221356
xref: UMLS:C4072823
xref: UMLS:C4072824
is_a: HP:0002683 ! Abnormal calvaria morphology

[Term]
id: HP:0000250
name: Dense calvaria
def: "An abnormal increase of density of the bones making up the calvaria." [https://orcid.org/0000-0002-0736-9199]
synonym: "Dense skull cap" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1854834
is_a: HP:0002683 ! Abnormal calvaria morphology
is_a: HP:0004330 ! Increased skull ossification

[Term]
id: HP:0000252
name: Microcephaly
alt_id: HP:0001366
alt_id: HP:0005485
alt_id: HP:0005489
alt_id: HP:0005497
def: "Head circumference below 2 standard deviations below the mean for age and gender." [PMID:15806441, PMID:19125436, PMID:25465325, PMID:9683597]
comment: Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles, others by standard deviations. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex. On prenatal ultrasound, microcephaly is diagnosed if the head circumference or the biparietal diameter is more than three standard deviations below the mean. Microcephaly is divided into primary microcephaly, which is present at birth, and secondary microcephaly, which develops postnatally. The crucial difference between these groupings is that primary microcephaly is usually a static developmental anomaly, whereas secondary microcephaly indicates a progressive neurodegenerative condition
subset: hposlim_core
synonym: "Abnormally small cranium" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormally small head" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormally small skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased circumference of cranium" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of cranium" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of head" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Reduced head circumference" EXACT layperson []
synonym: "small calvarium" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "small cranium" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Small head" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Small head circumference" EXACT layperson []
synonym: "Small skull" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
xref: Fyler:4310
xref: SNOMEDCT_US:271611007
xref: UMLS:C4551563
is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum
is_a: HP:0040195 ! Decreased head circumference

[Term]
id: HP:0000253
name: Progressive microcephaly
def: "Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Microcephaly, postnatal, progressive" EXACT []
synonym: "Microcephaly, progressive" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Progressively abnormally small cranium" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Progressively abnormally small skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1850456
is_a: HP:0005484 ! Secondary microcephaly

[Term]
id: HP:0000255
name: Acute sinusitis
def: "An acute form of sinusitis." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:15805002
xref: UMLS:C0149512
is_a: HP:0000246 ! Sinusitis

[Term]
id: HP:0000256
name: Macrocephaly
alt_id: HP:0005491
alt_id: HP:0005496
alt_id: HP:0200135
def: "Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium." [PMID:19125436]
comment: Macrocephaly can be due to hydrocephalus (increased CFSF), megalencephaly (increased brain volume) or thickening of the skull. Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far above the normal standard the head circumference is if an accurate assessment of this can be made. Macrocephaly is an absolute term. The term relative macrocephaly can be used when the head size centile exceeds the centile for height, for example, head size at the 75th centile with height at the 5th centile for age and sex.
subset: hposlim_core
synonym: "Big calvaria" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Big cranium" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Big head" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Big skull" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased size of cranium" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased size of head" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased size of skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Large calvaria" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Large cranium" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Large head" EXACT layperson []
synonym: "Large head circumference" EXACT layperson []
synonym: "Large skull" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Macrocephalus" EXACT []
synonym: "Macrocrania" EXACT []
synonym: "Megacephaly" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: Fyler:4335
xref: UMLS:C4083076
xref: UMLS:C4255213
xref: UMLS:C4280663
xref: UMLS:C4280664
is_a: HP:0040194 ! Increased head circumference

[Term]
id: HP:0000260
name: Wide anterior fontanel
def: "Enlargement of the anterior fontanelle with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Large anterior fontanel" EXACT []
synonym: "Large anterior fontanelle" EXACT []
synonym: "Large anterior fontanels" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Large open anterior fontanel" EXACT []
synonym: "Large open anterior fontanelle" EXACT []
synonym: "Wide anterior fontanelle" EXACT []
synonym: "Wide open anterior fontanelle" EXACT []
synonym: "Wider-than-typical soft spot of skull" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1866134
is_a: HP:0000236 ! Abnormal anterior fontanelle morphology
is_a: HP:0000239 ! Large fontanelles

[Term]
id: HP:0000262
name: Turricephaly
alt_id: HP:0001356
def: "Tall head relative to width and length." [PMID:19125436]
comment: Turricephaly is derived from the Latin word turris, meaning tall, and refers to a round, tall (tower-like) skull. This feature may have previously been considered to overlap with or include a tall forehead. Turricephaly is present when the head appears tall (subjective) and head length and width are reduced compared to normal age-related standards (objective). Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. The term acrocephaly (or oxycephaly) is used when there is turricephaly and the top of the skull assumes a cone shape.
subset: hposlim_core
synonym: "Tall shaped cranium" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Tall shaped head" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Tall shaped skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Tower cranium shape" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Tower skull shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Turricephalus" EXACT []
xref: SNOMEDCT_US:48069004
xref: UMLS:C0030044
is_a: HP:0002683 ! Abnormal calvaria morphology

[Term]
id: HP:0000263
name: Oxycephaly
def: "Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull." [https://orcid.org/0000-0002-0736-9199]
synonym: "Acrocephaly" RELATED []
is_a: HP:0000262 ! Turricephaly

[Term]
id: HP:0000264
name: Abnormal mastoid morphology
def: "An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of mastoid process of temporal bone" EXACT []
synonym: "Abnormality of the mastoid" EXACT []
xref: UMLS:C4025872
is_a: HP:0000929 ! Abnormal skull morphology

[Term]
id: HP:0000265
name: Mastoiditis
xref: SNOMEDCT_US:52404001
xref: UMLS:C0024904
is_a: HP:0000264 ! Abnormal mastoid morphology

[Term]
id: HP:0000267
name: Cranial asymmetry
def: "Asymmetry of the bones of the skull." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of cranial vault shape" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of cranium shape" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of head shape" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Asymmetry of cranium" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Asymmetry of head" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Cranial vault asymmetry" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of cranial vault shape" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of cranium shape" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of head shape" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Uneven head shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1860245
xref: UMLS:C4280258
xref: UMLS:C4280657
xref: UMLS:C4280658
xref: UMLS:C4280659
xref: UMLS:C4280660
xref: UMLS:C4280661
xref: UMLS:C4280662
is_a: HP:0002683 ! Abnormal calvaria morphology

[Term]
id: HP:0000268
name: Dolichocephaly
alt_id: HP:0000258
alt_id: HP:0005440
def: "An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture." [https://orcid.org/0000-0002-0736-9199, PMID:19125436]
comment: Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Dolichocephaly is distinct from Prominent occiput, but both can be present in the same individual and should be coded separately. Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped).
subset: hposlim_core
synonym: "Large dolichocephalic skull" NARROW []
synonym: "Long, narrow head" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Narrow cranium shape" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Narrow head shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Narrow skull shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Tall and narrow skull" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Turridolichocephaly" BROAD []
xref: SNOMEDCT_US:72239002
xref: UMLS:C0221358
xref: UMLS:C4280653
xref: UMLS:C4280654
xref: UMLS:C4280655
xref: UMLS:C4280656
is_a: HP:0002683 ! Abnormal calvaria morphology

[Term]
id: HP:0000269
name: Prominent occiput
alt_id: HP:0004489
def: "Increased convexity of the occiput (posterior part of the skull)." [PMID:19125436]
comment: Increased convexity of the occiput gives an appearance of prominence. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Dolichocephaly, but this should be coded separately.
subset: hposlim_core
synonym: "Prominent back of the head" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Prominent back of the skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Prominent posterior cranium" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Prominent posterior head" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Prominent posterior skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Protruding back of the head" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Protruding occiput" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1853737
xref: UMLS:C4280652
is_a: HP:0011217 ! Abnormal shape of the occiput

[Term]
id: HP:0000270
name: Delayed cranial suture closure
alt_id: HP:0002704
alt_id: HP:0003794
def: "Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad late closing cranial sutures" EXACT []
synonym: "Delayed closure of fontanel" EXACT []
synonym: "Delayed closure of fontanelles" EXACT []
synonym: "Delayed closure of fontanels" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Delayed closure of the fontanelles" EXACT []
synonym: "Delayed cranial suture closure" EXACT layperson []
synonym: "Delayed fontanel closure" EXACT []
synonym: "Delayed fontanelle closure" EXACT []
synonym: "Late closing fontanelles" EXACT []
synonym: "Late closure of fontanelle" EXACT []
synonym: "Late-closing fontanelle" EXACT []
synonym: "Open sutures" EXACT []
xref: SNOMEDCT_US:82779003
xref: UMLS:C0277828
is_a: HP:0011329 ! Abnormality of cranial sutures

[Term]
id: HP:0000271
name: Abnormality of the face
def: "An abnormality of the face." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormal face" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Abnormality of the countenance" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the face" EXACT layperson []
synonym: "Abnormality of the physiognomy" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the visage" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Anomaly of face" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Anomaly of the face" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Disorder of face" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Disorder of the face" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Facial abnormality" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Facial anomaly" RELATED [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:118930001
xref: SNOMEDCT_US:32003007
xref: SNOMEDCT_US:398206004
xref: SNOMEDCT_US:398302004
xref: UMLS:C0266617
xref: UMLS:C1290857
xref: UMLS:C4025871
is_a: HP:0000234 ! Abnormality of the head

[Term]
id: HP:0000272
name: Malar flattening
alt_id: HP:0000312
alt_id: HP:0000332
alt_id: HP:0004642
alt_id: HP:0004658
alt_id: HP:0004671
alt_id: HP:0005319
alt_id: HP:0005443
alt_id: HP:0005455
alt_id: HP:0100846
def: "Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation." [https://orcid.org/0000-0001-5889-4463, https://orcid.org/0000-0002-0736-9199, PMID:19125436]
comment: The malar process is the most medial and superior portion of the bony midface, articulating with the maxilla and temporal and sphenoid bones, contiguous with the lateral boundary of the nasal bridge. The term malar hypoplasia is no longer preferred because surface examination cannot distinguish hypoplasia from hypotrophy. {xref="https://orcid.org/0000-0001-5889-4463"}
subset: hposlim_core
synonym: "Decreased size of malar bone" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Depressed malar region" EXACT []
synonym: "Flat cheekbone" EXACT [https://orcid.org/0000-0002-9353-5498]
synonym: "Hypotrophic malar bone" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Malar hypoplasia" EXACT []
synonym: "Underdevelopment of malar bone" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Zygomatic flattening" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1858085
xref: UMLS:C4280651
is_a: HP:0010668 ! Abnormal zygomatic bone morphology

[Term]
id: HP:0000273
name: Facial grimacing
synonym: "Facial grimacing" EXACT layperson []
xref: SNOMEDCT_US:37126005
xref: UMLS:C0234853
is_a: HP:0005324 ! Disturbance of facial expression

[Term]
id: HP:0000274
name: Small face
def: "A face that is short and narrow." [https://orcid.org/0000-0002-0736-9199]
comment: This term represents a combination of two terms, short face and narrow face.
synonym: "Facial hypoplasia" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplasia of face" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Microface" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Microfacies" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Short and narrow face" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Small face" EXACT layperson []
synonym: "Small facies" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1855538
is_a: HP:0001999 ! Abnormal facial shape

[Term]
id: HP:0000275
name: Narrow face
alt_id: HP:0000318
def: "Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective)." [PMID:19125436]
comment: Objective measurement of the upper facial width is made with spreading calipers. The tips of the calipers are passed over the zygomatic arches until the maximum width is determined. Objective measurement of the lower faces is made with spreading calipers, with the tips firmly pressed against the inferomedial surface of the angle of the mandible.
subset: hposlim_core
synonym: "Decreased breadth of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased horizontal dimension of face" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased transverse dimension of face" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased width of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Horizontal deficiency of face" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Horizontal hypoplasia of face" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Horizontal insufficiency of face" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Narrow face" EXACT layperson []
synonym: "Narrow facies" EXACT []
synonym: "Thin face" RELATED layperson []
synonym: "Thin facies" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Transverse deficiency of face" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Transverse hypoplasia of face" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Transverse insufficiency of face" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1837463
xref: UMLS:C1849121
is_a: HP:0000274 ! Small face

[Term]
id: HP:0000276
name: Long face
alt_id: HP:0000334
def: "Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective)." [PMID:19125436]
comment: Objective measurement of the face height is made with sliding calipers from the nasion, just above the depth of the nasal root, to the gnathion, the inferior border of the mandible, both in the midline. Note that long face is distinct from narrow face.
subset: hposlim_core
synonym: "Elongation of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased height of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased length of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased vertical dimension of face" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Long face" EXACT layperson []
synonym: "Long facies" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Vertical elongation of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Vertical enlargement of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Vertical excess of face" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Vertical Facial Excess" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Vertical hyperplasia of face" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Vertical overgrowth of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1836047
is_a: HP:0100729 ! Large face

[Term]
id: HP:0000277
name: Abnormal mandible morphology
alt_id: HP:0000209
def: "Any abnormality of the mandible, the bone of the lower jaw." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the lower jaw bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the mandible" EXACT layperson []
synonym: "Anomaly of the mandible" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the lower jaw bone" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the mandible" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the lower jaw bone" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the mandible" NARROW [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025870
is_a: HP:0030791 ! Abnormal jaw morphology

[Term]
id: HP:0000278
name: Retrognathia
alt_id: HP:0002053
alt_id: HP:0002954
def: "An abnormality in which the mandible is mislocalised posteriorly." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Lower jaw retrognathia" EXACT []
synonym: "Lower jaw retrusion" EXACT []
synonym: "Mandibular retrognathia" EXACT []
synonym: "Mandibular retrusion" EXACT []
synonym: "Receding chin" EXACT layperson []
synonym: "Receding lower jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Receding mandible" EXACT []
synonym: "Retrogenia" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Retrognathia of lower jaw" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Retrusion of lower jaw" EXACT []
synonym: "Weak chin" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Weak jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C3494422
is_a: HP:0000277 ! Abnormal mandible morphology

[Term]
id: HP:0000280
name: Coarse facial features
alt_id: HP:0000281
alt_id: HP:0004640
def: "Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues." [PMID:19125436]
subset: hposlim_core
synonym: "Coarse face" EXACT []
synonym: "Coarse facial appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Coarse facial features" EXACT layperson []
synonym: "Coarse facies" EXACT []
synonym: "Rounded and heavy facial features" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thickened facial skin with coarse facial features" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1845847
xref: UMLS:C4072825
is_a: HP:0001999 ! Abnormal facial shape

[Term]
id: HP:0000282
name: Facial edema
synonym: "Facial oedema" EXACT uk_spelling []
synonym: "Facial puffiness" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Facial swelling" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Swelling of the face" EXACT []
xref: SNOMEDCT_US:445088006
xref: UMLS:C0542571
is_a: HP:0000969 ! Edema
is_a: HP:0011799 ! Abnormality of facial soft tissue

[Term]
id: HP:0000283
name: Broad face
def: "Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective)." [PMID:19125436]
comment: Note that broad face is distinct from round face.
subset: hposlim_core
synonym: "Broad face" EXACT layperson []
synonym: "Broad facies" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Horizontal excess of face" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Horizontal hyperplasia of face" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased breadth of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased horizontal dimension of face" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased transverse dimension of face" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased width of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Transverse excess of face" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Transverse hyperplasia of face" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Wide face" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Wide facies" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1859680
is_a: HP:0100729 ! Large face

[Term]
id: HP:0000284
name: obsolete Abnormality of the ocular region
is_obsolete: true
replaced_by: HP:0000315

[Term]
id: HP:0000286
name: Epicanthus
alt_id: HP:0000624
alt_id: HP:0007930
def: "A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus." [https://orcid.org/0000-0002-0736-9199]
comment: In extreme cases, the skin fold can start as high as the eyebrow; this is called epicanthus superciliaris.
subset: hposlim_core
synonym: "Epicanthal fold" EXACT []
synonym: "Epicanthal folds" EXACT []
synonym: "Epicanthic folds" EXACT []
synonym: "Eye folds" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Palpebronasal fold" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Plica palpebronasalis" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Prominent eye folds" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C0678230
is_a: HP:0000492 ! Abnormal eyelid morphology

[Term]
id: HP:0000287
name: Increased facial adipose tissue
def: "An increased amount of subcutaneous fat tissue in the face." [https://orcid.org/0000-0002-0736-9199]
synonym: "Facial fat hyperplasia" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Facial fat hypertrophy" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Hyperplasia of facial adipose tissue" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypertrophy of facial adipose tissue" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased amount of facial adipose tissue" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased amount of facial fat" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased volume of facial adipose tissue" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025868
xref: UMLS:C4280649
xref: UMLS:C4280650
is_a: HP:0000291 ! Abnormality of facial adipose tissue

[Term]
id: HP:0000288
name: Abnormality of the philtrum
alt_id: HP:0011216
def: "An abnormality of the philtrum." [https://orcid.org/0000-0002-0736-9199]
comment: The paralabial region is the region surrounding the lips and includes the philtrum.
subset: hposlim_core
synonym: "Abnormal philtrum" EXACT []
synonym: "Abnormality of the infranasal depression" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the paralabial region" EXACT []
xref: UMLS:C1857045
is_a: HP:0000177 ! Abnormal upper lip morphology

[Term]
id: HP:0000289
name: Broad philtrum
def: "Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum." [PMID:19152422]
comment: The mean width of the philtrum was found to be 7 mm in infants by Franz and Sokol [1971] and 9.7 mm in adults by Ward and Jamison [1991]. Measuring width of the philtrum is even more inaccurate than measuring length (vide supra). A broad philtrum may be associated with reduced ridge prominence or a shallow groove, a Smooth philtrum, which should be assessed and coded separately. It may be found with a broad nasal septum.
subset: hposlim_core
synonym: "Increased breadth of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased horizontal dimension of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased transverse dimension of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased width of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Wide philtrum" EXACT []
xref: UMLS:C1854111
is_a: HP:0000288 ! Abnormality of the philtrum

[Term]
id: HP:0000290
name: Abnormal forehead morphology
def: "An anomaly of the forehead." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the forehead" EXACT layperson []
synonym: "Abnormality of the frontal region of the face" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Anomaly of the forehead" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the forehead" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the forehead" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025867
is_a: HP:0000271 ! Abnormality of the face

[Term]
id: HP:0000291
name: Abnormality of facial adipose tissue
synonym: "Abnormality of facial fat" EXACT layperson []
synonym: "Deformity of facial adipose tissue" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of facial adipose tissue" NARROW [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025866
is_a: HP:0009124 ! Abnormal adipose tissue morphology
is_a: HP:0011799 ! Abnormality of facial soft tissue

[Term]
id: HP:0000292
name: Loss of facial adipose tissue
def: "Loss of normal subcutaneous fat tissue in the face." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased amount of facial adipose tissue" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased amount of facial fat" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased volume of facial adipose tissue" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Loss of facial fat" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Loss of facial subcutaneous adipose tissue" EXACT []
synonym: "Loss of subcutaneous adipose tissue from face" EXACT []
xref: UMLS:C1837767
is_a: HP:0000291 ! Abnormality of facial adipose tissue
is_a: HP:0008887 ! Adipose tissue loss

[Term]
id: HP:0000293
name: Full cheeks
alt_id: HP:0002262
alt_id: HP:0004427
def: "Increased prominence or roundness of soft tissues between zygomata and mandible." [https://orcid.org/0000-0002-2972-5481]
subset: hposlim_core
synonym: "Apple cheeks" EXACT layperson []
synonym: "Big cheeks" EXACT layperson []
synonym: "Chubby cheeks" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Full cheeks" EXACT layperson []
synonym: "Hyperplasia of cheeks" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypertrophy of cheeks" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased size of cheeks" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Large cheeks" EXACT layperson []
synonym: "Puffy cheeks" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1866231
xref: UMLS:C2748653
xref: UMLS:C3806443
xref: UMLS:C4280647
xref: UMLS:C4280648
is_a: HP:0004426 ! Abnormal cheek morphology

[Term]
id: HP:0000294
name: Low anterior hairline
def: "Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella." [PMID:19125436]
comment: This feature gives the appearance of a short forehead. It is distinct from hirsutism of the forehead. In the latter, orientation of hair growth is lateral and texture and density of hair differs from scalp hair.
subset: hposlim_core
synonym: "Low frontal hairline" EXACT layperson []
synonym: "Low-set frontal hairline" EXACT layperson []
xref: UMLS:C1842366
is_a: HP:0000599 ! Abnormality of the frontal hairline

[Term]
id: HP:0000295
name: Doll-like facies
def: "A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin." [https://orcid.org/0000-0002-0736-9199]
comment: This term represents a bundle of phenotypic features and is kept for historical reasons. It is preferable to annotate the individual clinical findings precisely.
synonym: "Doll-like facial appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1856361
is_a: HP:0001999 ! Abnormal facial shape

[Term]
id: HP:0000297
name: Facial hypotonia
def: "Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Atony of facial musculature" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased facial muscle tone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypotonic facies" EXACT []
synonym: "Low facial muscle tone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Reduced facial muscle tone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1845251
xref: UMLS:C4280646
is_a: HP:0000301 ! Abnormality of facial musculature
is_a: HP:0001252 ! Hypotonia

[Term]
id: HP:0000298
name: Mask-like facies
def: "A lack of facial expression often with staring eyes and a slightly open mouth." [https://orcid.org/0000-0002-0736-9199]
comment: Mask-like facies can be seen in many neurological disorders such as Parkinsonism and myotonic dystrophy.
synonym: "Amimia" EXACT []
synonym: "Expressionless face" EXACT layperson []
synonym: "Lack of facial expression" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Mask-like facial appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Masklike facies" EXACT []
xref: SNOMEDCT_US:103606006
xref: UMLS:C0424448
is_a: HP:0004673 ! Decreased facial expression

[Term]
id: HP:0000300
name: Oval face
def: "A face with a rounded and slightly elongated outline." [https://orcid.org/0000-0002-0736-9199]
synonym: "Oval face" EXACT layperson []
synonym: "Oval facial shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Oval facies" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1849025
is_a: HP:0001999 ! Abnormal facial shape

[Term]
id: HP:0000301
name: Abnormality of facial musculature
def: "An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve)." [https://orcid.org/0000-0002-0736-9199]
comment: Facial muscles control facial expression and are innervated by the seventh cranial nerve. Facial muscles around the eye are responsible for eye blink and eyelid closure.
synonym: "Abnormality of facial muscles" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Facial muscle issue" EXACT layperson []
xref: UMLS:C4025865
is_a: HP:0011799 ! Abnormality of facial soft tissue
is_a: HP:0011805 ! Abnormal skeletal muscle morphology

[Term]
id: HP:0000303
name: Mandibular prognathia
alt_id: HP:0000251
alt_id: HP:0000279
alt_id: HP:0000328
alt_id: HP:0002051
alt_id: HP:0004648
alt_id: HP:0004656
alt_id: HP:0008514
def: "Abnormal prominence of the chin related to increased length of the mandible." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Big lower jaw" EXACT layperson []
synonym: "Big mandible" EXACT []
synonym: "Enlarged mandible" EXACT []
synonym: "Enlargement of mandible" EXACT []
synonym: "Hyperplasia of lower jaw" EXACT []
synonym: "Hypertrophy of lower jaw" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypertrophy of mandible" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased projection of lower jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased projection of mandible" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased size of lower jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased size of mandible" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Large lower jaw" EXACT layperson []
synonym: "Large mandible" EXACT []
synonym: "Lower jaw excess" EXACT []
synonym: "Lower jaw hyperplasia" EXACT []
synonym: "Macromandible" EXACT []
synonym: "Mandible prognathism" EXACT []
synonym: "Mandibular excess" EXACT []
synonym: "Mandibular hyperplasia" EXACT []
synonym: "Mandibular macrognathia" EXACT []
synonym: "Mandibular prognathism" EXACT []
synonym: "Prognathia" EXACT []
synonym: "Prognathism" EXACT []
synonym: "Prominent chin" EXACT layperson []
synonym: "Prominent jaw" EXACT []
synonym: "Prominent lower jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Prominent mandible" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Relative mandibular prognathism" EXACT []
xref: SNOMEDCT_US:109504005
xref: SNOMEDCT_US:22810007
xref: UMLS:C0302501
xref: UMLS:C0399526
xref: UMLS:C2227134
xref: UMLS:C4280644
xref: UMLS:C4280645
is_a: HP:0000277 ! Abnormal mandible morphology
is_a: HP:0000306 ! Abnormality of the chin

[Term]
id: HP:0000306
name: Abnormality of the chin
def: "An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw." [https://orcid.org/0000-0002-0736-9199, PMID:19125436]
subset: hposlim_core
synonym: "Abnormality of the chin" EXACT layperson []
synonym: "Abnormality of the menton" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Anomaly of the chin" NARROW layperson []
synonym: "Deformity of the chin" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the chin" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025864
is_a: HP:0000271 ! Abnormality of the face

[Term]
id: HP:0000307
name: Pointed chin
alt_id: HP:0005330
def: "A marked tapering of the lower face to the chin." [PMID:19125436]
comment: The two rami of the mandible meet at an acute angle.
subset: hposlim_core
synonym: "Pointed chin" EXACT layperson []
synonym: "Pointed mention region" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Pointy chin" EXACT layperson []
synonym: "Small pointed chin" EXACT layperson []
synonym: "Witch's chin" EXACT layperson []
xref: UMLS:C1844505
is_a: HP:0000306 ! Abnormality of the chin

[Term]
id: HP:0000308
name: Microretrognathia
def: "A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly." [https://orcid.org/0000-0002-0736-9199]
synonym: "Retromicrognathia" EXACT []
synonym: "Small retruded chin" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1839546
is_a: HP:0000278 ! Retrognathia
is_a: HP:0000347 ! Micrognathia

[Term]
id: HP:0000309
name: Abnormal midface morphology
alt_id: HP:0430026
def: "An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface." [https://orcid.org/0000-0002-0736-9199, PMID:19125436]
synonym: "Abnormal morphology of the midface" EXACT []
synonym: "Abnormality of the midface" EXACT layperson []
synonym: "Anomaly of the midface" EXACT []
synonym: "Deformity of the midface" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the midface" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4021811
is_a: HP:0000271 ! Abnormality of the face

[Term]
id: HP:0000311
name: Round face
alt_id: HP:0000304
alt_id: HP:0004653
def: "The facial appearance is more circular than usual as viewed from the front." [PMID:19125436]
subset: hposlim_core
synonym: "Circular face" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Round face" EXACT layperson []
synonym: "Round facial appearance" EXACT layperson []
synonym: "Round facial shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Round facies" EXACT []
synonym: "Round, full face" BROAD []
xref: UMLS:C0239479
xref: UMLS:C1856468
is_a: HP:0001999 ! Abnormal facial shape

[Term]
id: HP:0000315
name: Abnormality of the orbital region
alt_id: HP:0000284
synonym: "Abnormality of the eye region" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the region around the eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Anomaly of the orbital region of the face" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the orbital region of the face" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the orbital region of the face" NARROW [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025863
is_a: HP:0000271 ! Abnormality of the face

[Term]
id: HP:0000316
name: Hypertelorism
alt_id: HP:0000578
alt_id: HP:0002001
alt_id: HP:0004657
alt_id: HP:0007871
def: "Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes)." [PMID:19125427]
subset: hposlim_core
synonym: "Excessive orbital separation" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased distance between eye sockets" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased distance between eyes" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased interpupillary distance" EXACT []
synonym: "Ocular hypertelorism" EXACT []
synonym: "Wide-set eyes" EXACT layperson []
synonym: "Widely spaced eyes" EXACT layperson []
synonym: "Widened interpupillary distance" EXACT []
xref: SNOMEDCT_US:194021007
xref: SNOMEDCT_US:22006008
xref: UMLS:C0020534
is_a: HP:0100886 ! Abnormality of globe location

[Term]
id: HP:0000317
name: Facial myokymia
alt_id: HP:0004651
def: "Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve)." [https://orcid.org/0000-0002-0736-9199]
comment: Facial myokymia may be caused by a plaque of multiple sclerosis or have other causes.
synonym: "Involuntary facial contraction" EXACT []
synonym: "Involuntary facial quivering" EXACT layperson []
xref: SNOMEDCT_US:1070000
xref: UMLS:C0270871
is_a: HP:0000301 ! Abnormality of facial musculature
is_a: HP:0002411 ! Myokymia

[Term]
id: HP:0000319
name: Smooth philtrum
alt_id: HP:0000299
alt_id: HP:0000323
alt_id: HP:0004663
def: "Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border." [PMID:19152422]
comment: There is a spectrum of this finding from total absence of the philtral ridges to a some prominence of the ridges. The central groove varies from absent to shallow. Normal values for the frequency of smooth philtrum are available. Grading of the smoothness of the philtrum, used in the assessment of Fetal Alcohol Syndrome, has been developed. This finding is greatly influenced by the facial expression, and care should be taken to evaluate the philtrum when the face is in a neutral position. A smooth philtrum can be associated with a Long philtrum. However, the two findings should be coded separately.
synonym: "Decreased depth of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Flat philtrum" EXACT []
synonym: "Indistinct philtrum" EXACT []
synonym: "Philtrum, smooth" EXACT []
synonym: "Shallow philtrum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Simple philtrum" EXACT []
xref: UMLS:C1142533
is_a: HP:0000288 ! Abnormality of the philtrum

[Term]
id: HP:0000320
name: Bird-like facies
synonym: "Bird-like facial appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1837758
is_a: HP:0001999 ! Abnormal facial shape

[Term]
id: HP:0000321
name: Square face
def: "Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance." [PMID:19125436]
synonym: "Square face" EXACT layperson []
synonym: "Square facial shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Square facies" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1832127
is_a: HP:0001999 ! Abnormal facial shape

[Term]
id: HP:0000322
name: Short philtrum
alt_id: HP:0200090
def: "Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border." [PMID:19152422]
subset: hposlim_core
synonym: "Decreased height of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased length of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased vertical dimension of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Vertical hypoplasia of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1861324
is_a: HP:0000288 ! Abnormality of the philtrum

[Term]
id: HP:0000324
name: Facial asymmetry
alt_id: HP:0003775
def: "An abnormal difference between the left and right sides of the face." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Asymmetric facies" EXACT []
synonym: "Asymmetry of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Asymmetry of right and left side of face" EXACT []
synonym: "Crooked face" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Facial asymmetry" EXACT layperson []
synonym: "Unbalanced face" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Unequal sides of face" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Uneven face" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Uneven sides of face" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Unsymmetrical face" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:15253005
xref: UMLS:C1306710
is_a: HP:0001999 ! Abnormal facial shape

[Term]
id: HP:0000325
name: Triangular face
alt_id: HP:0004645
alt_id: HP:0004662
alt_id: HP:0004668
def: "Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin." [https://orcid.org/0000-0002-9602-2321, PMID:19125436, PMID:21166787, PMID:30515601]
comment: Several groups have used the term inverted triangular face to emphasize the fact that the point is facing downwards.
subset: hposlim_core
synonym: "Face with broad temples and narrow chin" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Inverted triangular face" EXACT []
synonym: "Triangular face" EXACT layperson []
synonym: "Triangular facial shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Triangular facies" EXACT []
xref: UMLS:C1835884
is_a: HP:0001999 ! Abnormal facial shape

[Term]
id: HP:0000326
name: Abnormal maxilla morphology
def: "An abnormality of the Maxilla (upper jaw bone)." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the maxilla" EXACT []
synonym: "Abnormality of the upper jaw bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the upper jaw bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Anomaly of the maxilla" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the maxilla" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the upper jaw bones" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the maxilla" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the upper jaw bones" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025862
is_a: HP:0030791 ! Abnormal jaw morphology

[Term]
id: HP:0000327
name: Hypoplasia of the maxilla
alt_id: HP:0004644
def: "Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Decreased projection of maxilla" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased projection of upper jaw" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of maxilla" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of upper jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deficiency of upper jaw bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplasia of upper jaw bones" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplastic maxillary bones" EXACT []
synonym: "Hypotrophic maxilla" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypotrophic upper jaw bones" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Maxillary deficiency" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Maxillary hypoplasia" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Maxillary micrognathia" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Maxillary retrognathia" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Maxillary retrusion" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Micromaxilla" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Retrognathia of upper jaw" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Retrusion of upper jaw bones" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Small maxilla" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Small upper jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Small upper jaw bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Upper jaw deficiency" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Upper jaw retrusion" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C0240310
xref: UMLS:C4082243
xref: UMLS:C4280640
xref: UMLS:C4280641
xref: UMLS:C4280642
xref: UMLS:C4280643
is_a: HP:0000326 ! Abnormal maxilla morphology

[Term]
id: HP:0000329
name: Facial hemangioma
def: "Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face." [https://orcid.org/0000-0002-0736-9199]
synonym: "Facial hemangiomata" EXACT []
xref: UMLS:C1861443
is_a: HP:0001028 ! Hemangioma
is_a: HP:0011799 ! Abnormality of facial soft tissue

[Term]
id: HP:0000331
name: Short chin
def: "Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin." [https://orcid.org/0000-0002-0736-9199, PMID:19125436]
comment: The term "micrognathia" should be used when the chin is both short (vertical dimension) and narrow (horizontal dimension).
synonym: "Decreased height of chin" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Short chin" EXACT layperson []
synonym: "Short lower third of face" EXACT layperson []
synonym: "Small chin" RELATED layperson []
synonym: "Vertical deficiency of chin" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Vertical hypoplasia of chin" EXACT []
xref: SNOMEDCT_US:699439001
xref: UMLS:C1839323
xref: UMLS:C3697248
is_a: HP:0000306 ! Abnormality of the chin

[Term]
id: HP:0000336
name: Prominent supraorbital ridges
def: "Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones." [PMID:19125436]
subset: hposlim_core
synonym: "Hyperplasia of supraorbital margins" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Hyperplasia of supraorbital ridge" NARROW []
synonym: "Hypertrophy of supraorbital margins" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypertrophy of supraorbital ridge" NARROW []
synonym: "Prominent brow" EXACT layperson []
synonym: "Prominent supraorbital margins" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Prominent supraorbital ridge" EXACT []
synonym: "Protruding supraorbital ridge" EXACT []
synonym: "Supraorbital hyperostosis" EXACT []
xref: UMLS:C1842060
xref: UMLS:C4280636
xref: UMLS:C4280637
xref: UMLS:C4280638
xref: UMLS:C4280639
is_a: HP:0100538 ! Abnormality of the supraorbital ridges

[Term]
id: HP:0000337
name: Broad forehead
alt_id: HP:0000352
alt_id: HP:0000354
def: "Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead." [PMID:19125436]
comment: Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. Note that this term should not be confused with prominent forehead.
subset: hposlim_core
synonym: "Bitemporal widening" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Broad forehead" EXACT layperson []
synonym: "Increased bitemporal dimension" EXACT []
synonym: "Increased bitemporal width" EXACT []
synonym: "Increased width of the forehead" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Intertemporal widening" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Wide forehead" EXACT layperson []
xref: UMLS:C1849089
is_a: HP:0000290 ! Abnormal forehead morphology

[Term]
id: HP:0000338
name: Hypomimic face
alt_id: HP:0008769
def: "A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation." [https://orcid.org/0000-0002-0736-9199]
comment: The movement and position of facial muscles are often interpreted as expressing emotions. Individuals with hypomimic face may be perceived as expressing less emotion than normal.
synonym: "Decreased facial expressions" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased facial muscle movement" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Dull facial expression" EXACT layperson []
synonym: "Hypomimia" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:248149005
xref: UMLS:C0813217
xref: UMLS:C1862474
xref: UMLS:C4280635
is_a: HP:0000301 ! Abnormality of facial musculature
is_a: HP:0004673 ! Decreased facial expression

[Term]
id: HP:0000339
name: Pugilistic facies
def: "Coarse facial features reminiscent of those of a boxer." [https://orcid.org/0000-0002-0736-9199]
synonym: "Boxer-like facial appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Pugilistic facial appearance" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1846011
is_a: HP:0000280 ! Coarse facial features

[Term]
id: HP:0000340
name: Sloping forehead
alt_id: HP:0000351
alt_id: HP:0004480
alt_id: HP:0008493
alt_id: HP:0008500
def: "Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view." [PMID:19125436]
comment: Measurement requires an angle meter, inclined on the anterior surface of the forehead, in the midline, along a line connecting the hairline to the glabella, compared to the vertical.
subset: hposlim_core
synonym: "Inclined forehead" EXACT layperson []
synonym: "Posteriorly sloping forehead" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Receding forehead" EXACT layperson []
synonym: "Sloping forehead" EXACT layperson []
xref: UMLS:C1857679
is_a: HP:0000290 ! Abnormal forehead morphology

[Term]
id: HP:0000341
name: Narrow forehead
alt_id: HP:0000314
alt_id: HP:0004674
alt_id: HP:0004677
def: "Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective)." [PMID:19125436]
comment: A reduced distance between the temporal regions (temples) on each side of the head to one another. Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow.
subset: hposlim_core
synonym: "Bitemporal narrowing" EXACT []
synonym: "Bitemporal narrowness" EXACT []
synonym: "Bitemporal skull narrowing" EXACT []
synonym: "Decreased width of the forehead" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Intertemporal narrowing" EXACT []
synonym: "Narrow bitemporal diameter" EXACT []
synonym: "Narrow bitemporal width" EXACT []
synonym: "Narrow forehead" EXACT layperson []
synonym: "Temporal narrowness" EXACT []
xref: UMLS:C1839758
is_a: HP:0000290 ! Abnormal forehead morphology

[Term]
id: HP:0000343
name: Long philtrum
def: "Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border." [PMID:19152422]
subset: hposlim_core
synonym: "Elongated philtrum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased height of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased length of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased vertical dimension of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Vertical hyperplasia of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1865014
is_a: HP:0000288 ! Abnormality of the philtrum

[Term]
id: HP:0000346
name: Whistling appearance
def: "An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling." [https://orcid.org/0000-0002-0736-9199, PMID:856233]
synonym: "Whistling appearance" EXACT layperson []
synonym: "Whistling facial appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1848473
is_a: HP:0000205 ! Pursed lips

[Term]
id: HP:0000347
name: Micrognathia
alt_id: HP:0000210
alt_id: HP:0000330
alt_id: HP:0000345
alt_id: HP:0002005
alt_id: HP:0002674
alt_id: HP:0004669
alt_id: HP:0005460
alt_id: HP:0005470
def: "Developmental hypoplasia of the mandible." [https://orcid.org/0000-0002-0736-9199]
comment: Mandibular hypoplasia, also known as micrognathia, is a term that describes an abnormally small lower jaw.
subset: hposlim_core
synonym: "Decreased projection of lower jaw" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased projection of mandible" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of lower jaw" EXACT []
synonym: "Decreased size of mandible" EXACT []
synonym: "Deficiency of lower jaw" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplasia of lower jaw" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplasia of mandible" EXACT []
synonym: "Hypoplastic mandible" EXACT []
synonym: "Hypoplastic mandible condyle" EXACT []
synonym: "Hypotrophic lower jaw" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypotrophic mandible" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Little lower jaw" EXACT layperson []
synonym: "Little mandible" EXACT []
synonym: "Lower jaw deficiency" EXACT []
synonym: "Lower jaw hypoplasia" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Mandibular deficiency" EXACT []
synonym: "Mandibular hypoplasia" EXACT []
synonym: "Mandibular micrognathia" EXACT []
synonym: "Micrognathia of lower jaw" EXACT []
synonym: "Micromandible" EXACT []
synonym: "Robin mandible" EXACT []
synonym: "Severe hypoplasia of mandible" EXACT []
synonym: "Small jaw" EXACT layperson []
synonym: "Small lower jaw" EXACT layperson []
synonym: "Small mandible" EXACT []
synonym: "Underdevelopment of lower jaw" EXACT []
synonym: "Underdevelopment of mandible" EXACT []
xref: Fyler:4163
xref: SNOMEDCT_US:32958008
xref: UMLS:C0025990
xref: UMLS:C0240295
xref: UMLS:C1857130
is_a: HP:0009118 ! Aplasia/Hypoplasia of the mandible

[Term]
id: HP:0000348
name: High forehead
alt_id: HP:0000342
def: "An abnormally increased height of the forehead." [https://orcid.org/0000-0002-0736-9199]
synonym: "High forehead" EXACT layperson []
synonym: "Tall forehead" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C0239676
xref: UMLS:C2677762
is_a: HP:0000290 ! Abnormal forehead morphology

[Term]
id: HP:0000349
name: Widow's peak
alt_id: HP:0004544
def: "Frontal hairline with bilateral arcs to a low point in the midline of the forehead." [PMID:19125436]
comment: The hair may need to be pulled back to recognize this feature. Historically, English widows in the 18th century wore a black hat, triangular in shape, with a point facing forward in the midline.
subset: hposlim_core
synonym: "Hairline peak" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Hairline point" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Pointed frontal hairline" EXACT []
synonym: "Pointed hairline at front of head" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "V-shaped frontal hairline" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Widow's peak" EXACT layperson []
xref: UMLS:C1853486
is_a: HP:0009890 ! High anterior hairline

[Term]
id: HP:0000350
name: Small forehead
def: "The presence of a forehead that is abnormally small." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased size of forehead" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of frontal region of face" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplasia of forehead" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypotrophic forehead" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Small forehead" EXACT layperson []
xref: UMLS:C1845250
xref: UMLS:C4280633
xref: UMLS:C4280634
is_a: HP:0000290 ! Abnormal forehead morphology

[Term]
id: HP:0000356
name: Abnormality of the outer ear
alt_id: HP:0001752
def: "An abnormality of the external ear." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal pinnae" EXACT []
synonym: "Abnormality of the auricle" EXACT []
synonym: "Abnormality of the external ear" EXACT layperson []
synonym: "Abnormality of the outer ear" EXACT layperson []
synonym: "Ear anomalies" EXACT layperson []
synonym: "External ear malformation" EXACT []
synonym: "External ear malformations" EXACT layperson []
synonym: "Malformed pinnae" EXACT []
synonym: "Outer ear abnormality" EXACT layperson []
xref: SNOMEDCT_US:275259005
xref: UMLS:C0266589
xref: UMLS:C1846460
is_a: HP:0031703 ! Abnormal ear morphology

[Term]
id: HP:0000357
name: Abnormal location of ears
def: "Abnormal location of the ear." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal location of ears" EXACT layperson []
synonym: "External ear position defect" EXACT []
xref: UMLS:C4021810
is_a: HP:0000377 ! Abnormal pinna morphology

[Term]
id: HP:0000358
name: Posteriorly rotated ears
alt_id: HP:0000368
alt_id: HP:0008535
def: "A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." [https://orcid.org/0000-0002-0736-9199, PMID:19152421]
comment: Angle formed by the line perpendicular to the Frankfurt plane and the medial longitudinal axis of the ear (the two most remote points of the ear) greater than two standard deviations above the mean for age.
subset: hposlim_core
synonym: "Ear, posterior angulation, increased" EXACT []
synonym: "Ears rotated toward back of head" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Posteriorly angulated ears" EXACT []
synonym: "Posteriorly rotated" EXACT []
synonym: "Posteriorly rotated auricles" EXACT []
synonym: "Posteriorly-angulated ears" EXACT []
synonym: "Posteriorly-rotated ears" EXACT []
xref: SNOMEDCT_US:253251006
xref: UMLS:C0431478
is_a: HP:0000357 ! Abnormal location of ears

[Term]
id: HP:0000359
name: Abnormality of the inner ear
def: "An abnormality of the inner ear." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the inner ear" EXACT layperson []
synonym: "Inner ear abnormality" EXACT layperson []
xref: UMLS:C4021809
is_a: HP:0031703 ! Abnormal ear morphology

[Term]
id: HP:0000360
name: Tinnitus
def: "Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation." []
subset: hposlim_core
synonym: "Ringing in ears" EXACT layperson []
synonym: "Ringing in the ears" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:162349004
xref: SNOMEDCT_US:162352007
xref: SNOMEDCT_US:60862001
xref: UMLS:C0040264
is_a: HP:0000364 ! Hearing abnormality

[Term]
id: HP:0000361
name: obsolete Pulsatile tinnitus (tympanic paraganglioma)
is_obsolete: true
replaced_by: HP:0008629

[Term]
id: HP:0000362
name: Otosclerosis
def: "In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss." [https://orcid.org/0000-0002-0736-9199, PMID:15931303]
comment: Otosclerosis cannot be seen on an office examination. The audiogram indicates a conductive type of hearing loss. Testing of the stapedial reflexes indicates limited or no movement of the bones of hearing.
subset: hposlim_core
xref: SNOMEDCT_US:11543004
xref: UMLS:C0029899
is_a: HP:0008628 ! Abnormal stapes morphology

[Term]
id: HP:0000363
name: Abnormal earlobe morphology
def: "An abnormality of the lobule of pinna." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormal earlobe" EXACT layperson []
synonym: "Abnormal lobe of ear" EXACT []
synonym: "Abnormality of auricular lobule" EXACT []
synonym: "Abnormality of ear lobe" EXACT layperson []
synonym: "Abnormality of earlobe" EXACT layperson []
synonym: "Abnormality of lobulus auriculae" EXACT []
xref: UMLS:C4021808
is_a: HP:0000377 ! Abnormal pinna morphology

[Term]
id: HP:0000364
name: Hearing abnormality
def: "An abnormality of the sensory perception of sound." [https://orcid.org/0000-0002-0736-9199]
comment: According to the World Health Organization, deafness refers to the complete loss of hearing ability in one or two ears. Hearing impairment refers to both complete and partial loss of the ability to hear.
synonym: "Abnormal hearing" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Hearing abnormality" EXACT layperson []
xref: UMLS:C4025860
is_a: HP:0031704 ! Abnormal ear physiology

[Term]
id: HP:0000365
name: Hearing impairment
alt_id: HP:0000404
alt_id: HP:0001728
alt_id: HP:0001729
alt_id: HP:0001754
alt_id: HP:0008560
alt_id: HP:0008563
def: "A decreased magnitude of the sensory perception of sound." [https://orcid.org/0000-0002-0736-9199]
comment: Hearing loss can be categorized by which part of the auditory system is damaged, as conductive hearing loss, sensorineural hearing loss, and mixed hearing loss. Another axis of classification uses the degree of hearing impairment. The degree of hearing loss is computed by using a three frequency average taken at 500 Hz, 1,000 Hz and 2,000 Hz. The average of these three frequencies is called the Pure Tone Average (PTA). 0-20 dB is considered normal, 21-40 dB mild loss, 41-60 dB moderate loss, 61-70 dB moderately severe loss,71-90 dB severe loss, and greater than 90 dB profound loss. Note that the word deafness is occasionally used to describe partial hearing loss. The World Health Organization uses the word deafness to refer to complete loss of the ability to hear, and hearing impairment to refer to any degree of reduced hearing.
synonym: "Deafness" EXACT layperson []
synonym: "Hearing defect" EXACT layperson []
synonym: "Hearing impairment" EXACT layperson []
synonym: "Hearing loss" RELATED layperson []
synonym: "Hypacusis" EXACT []
synonym: "Hypoacusis" RELATED []
xref: Fyler:4868
xref: SNOMEDCT_US:103276001
xref: SNOMEDCT_US:15188001
xref: SNOMEDCT_US:343087000
xref: SNOMEDCT_US:95828007
xref: UMLS:C0011053
xref: UMLS:C0018772
xref: UMLS:C0339789
xref: UMLS:C1384666
is_a: HP:0000364 ! Hearing abnormality

[Term]
id: HP:0000366
name: Abnormality of the nose
def: "An abnormality of the nose." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the nose" EXACT layperson []
synonym: "Anomaly of the nose" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Nasal abnormality" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Nasal anomaly" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Nasal deformity" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Nasal malformation" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:128274005
xref: SNOMEDCT_US:72089000
xref: UMLS:C0240547
xref: UMLS:C0265736
xref: UMLS:C2235909
is_a: HP:0000271 ! Abnormality of the face

[Term]
id: HP:0000368
name: obsolete Low-set, posteriorly rotated ears
comment: This bundled term has been retired. It is preferable to code each feature separately.
is_obsolete: true
replaced_by: HP:0000358

[Term]
id: HP:0000369
name: Low-set ears
def: "Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear." [https://orcid.org/0000-0002-0736-9199, PMID:19152421]
subset: hposlim_core
synonym: "Low set ears" EXACT layperson []
synonym: "Low-set ears" EXACT layperson []
synonym: "Low-set pinnae" EXACT []
synonym: "Lowset ears" EXACT layperson []
synonym: "Melotia" EXACT []
xref: SNOMEDCT_US:95515009
xref: UMLS:C0239234
is_a: HP:0000357 ! Abnormal location of ears

[Term]
id: HP:0000370
name: Abnormality of the middle ear
def: "An abnormality of the middle ear." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Middle ear abnormalities" EXACT []
synonym: "Middle ear abnormality" EXACT []
xref: UMLS:C1861141
is_a: HP:0031703 ! Abnormal ear morphology

[Term]
id: HP:0000371
name: Acute otitis media
def: "Acute otitis media is a short and generally painful infection of the middle ear." [https://orcid.org/0000-0002-0736-9199]
synonym: "Acute middle ear infection" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:3110003
xref: UMLS:C0271429
is_a: HP:0000388 ! Otitis media

[Term]
id: HP:0000372
name: Abnormal auditory canal morphology
def: "Any structural abnormality of the external acoustic tube (also known as the auditory canal)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the auditory canal" EXACT []
synonym: "Auditory canal abnormality" EXACT []
xref: UMLS:C4021807
is_a: HP:0000356 ! Abnormality of the outer ear

[Term]
id: HP:0000375
name: Abnormal cochlea morphology
def: "An abnormality of the cochlea." [https://orcid.org/0000-0002-0736-9199]
comment: The cochlea is an inner ear structure comprised of a snail-shell like structure divided into three fluid-filled parts. Two are canals for the transmission of pressure and in the third is the organ of Corti, which detects pressure impulses and responds with electrical impulses which travel along the auditory nerve to the brain.
synonym: "Abnormality of cochlea" EXACT []
xref: UMLS:C4025858
is_a: HP:0011390 ! Abnormal inner ear morphology

[Term]
id: HP:0000376
name: Incomplete partition of the cochlea type II
def: "With incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation." [https://orcid.org/0000-0002-0736-9199, PMID:21849370, PMID:34698066]
comment: The triad of incomplete partition of the cochlea type II, dilation of the vestibule, and an enlarged vestibular aqueduct was previously referred to as a Mondini malformation but this nomenclature is no longer recommended. It is important to note that while reading the related literature, it is often not easy to understand if the authors use the correct terminology, so even in recent studies, the term Mondini should be considered with caution.
synonym: "Cochlear malformation defect (Mondini dysplasia)" RELATED []
synonym: "Mondini defect" RELATED []
synonym: "Mondini dysplasia" RELATED []
synonym: "Mondini malformation" RELATED []
xref: UMLS:C1857078
xref: UMLS:C4025857
is_a: HP:0011373 ! Incomplete partition of the cochlea

[Term]
id: HP:0000377
name: Abnormal pinna morphology
alt_id: HP:0000390
alt_id: HP:0000398
alt_id: HP:0004465
alt_id: HP:0008562
alt_id: HP:0008566
alt_id: HP:0008567
alt_id: HP:0008572
alt_id: HP:0008580
alt_id: HP:0008582
alt_id: HP:0008594
alt_id: HP:0008602
alt_id: HP:0040111
def: "An abnormality of the pinna, which is also referred to as the auricle or external ear." [https://orcid.org/0000-0002-0736-9199]
comment: The term 'dysplastic' is no longer accepted as a descriptor for an ear with unusual morphology. Each specific anatomical component of the ear should be described when the ear is thought to be abnormal in appearance.
synonym: "Abnormal form of ears" EXACT []
synonym: "Abnormally shaped ears" EXACT layperson []
synonym: "Auricular malformation" EXACT layperson []
synonym: "Deformed auricles" EXACT []
synonym: "Deformed ears" EXACT layperson []
synonym: "Dysplastic ears" EXACT []
synonym: "Malformation of auricle" EXACT []
synonym: "Malformed auricles" EXACT []
synonym: "Malformed ears" EXACT layperson []
synonym: "Malformed external ears" EXACT []
synonym: "Minor malformation of the auricles" EXACT []
synonym: "Poorly defined conchae" EXACT []
xref: SNOMEDCT_US:253255002
xref: UMLS:C0431483
xref: UMLS:C0857379
is_a: HP:0000356 ! Abnormality of the outer ear

[Term]
id: HP:0000378
name: Cupped ear
alt_id: HP:0008531
alt_id: HP:0008600
def: "Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura)." [https://orcid.org/0000-0002-0736-9199, PMID:19162421, PMID:22073081]
subset: hposlim_core
synonym: "Capuchin ears" RELATED []
synonym: "Cup-shaped ears" EXACT layperson []
synonym: "Cupped ear" EXACT layperson []
synonym: "Cupped ears" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Simple, cup-shaped ears" EXACT layperson []
xref: UMLS:C1845447
xref: UMLS:C4020892
is_a: HP:0000377 ! Abnormal pinna morphology

[Term]
id: HP:0000381
name: Stapes ankylosis
def: "Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles)." [https://orcid.org/0000-0002-0736-9199, PMID:12089654]
comment: Stapes ankylosis may be congenital or acquired, in which case it is referred to as otosclerosis. Otosclerosis is the most common cause of progressive conductive hearing loss in adults, and is generally manifested as nonsyndromic, delayed-onset, conductive hearing loss, but it may also affect the inner ear to cause sensorineural loss. Congenital stapes ankylosis may be difficult to differentiate from otosclerosis when the diagnosis of conductive hearing loss is delayed.
subset: hposlim_core
synonym: "Stapes fixation" EXACT []
xref: UMLS:C1861326
is_a: HP:0008628 ! Abnormal stapes morphology

[Term]
id: HP:0000383
name: Abnormal periauricular region morphology
synonym: "Abnormality of periauricular region" EXACT []
synonym: "Abnormality of the region around the ear" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Anomaly of the periauricular region" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the periauricular region" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the periauricular region" NARROW [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025856
is_a: HP:0004426 ! Abnormal cheek morphology

[Term]
id: HP:0000384
name: Preauricular skin tag
alt_id: HP:0008575
alt_id: HP:0100278
def: "A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Ear tag" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Periauricular skin tag" EXACT []
synonym: "Preauricular acrochordon" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Preauricular fibroepithelial polyp" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Preauricular skin tags" EXACT []
synonym: "Preauricular tag" EXACT []
synonym: "Preauricular tags" EXACT []
synonym: "Skin tag in front of the ear" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Skin tag on the posterior cheek" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1860816
xref: UMLS:C4072826
is_a: HP:0000383 ! Abnormal periauricular region morphology
is_a: HP:0010609 ! Skin tags

[Term]
id: HP:0000385
name: Small earlobe
alt_id: HP:0008616
def: "Reduced volume of the earlobe." [https://orcid.org/0000-0002-0736-9199, PMID:19152421]
comment: All gradations in size of the earlobe may be seen from absent to clearly enlarged compared to average. This finding is highly variable.
subset: hposlim_core
synonym: "Hypoplastic earlobes" EXACT []
synonym: "Hypoplastic lobules" EXACT []
synonym: "Small earlobe" EXACT layperson []
synonym: "Small earlobes" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1842680
is_a: HP:0009906 ! Aplasia/Hypoplasia of the earlobes

[Term]
id: HP:0000387
name: Absent earlobe
def: "Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura." [https://orcid.org/0000-0002-0736-9199, PMID:19152421]
subset: hposlim_core
synonym: "Absent ear lobes" EXACT []
synonym: "Absent earlobe" EXACT layperson []
synonym: "Earlobe, absent" EXACT layperson []
synonym: "Lobeless ears" EXACT layperson []
synonym: "Lobule aplasia" EXACT []
xref: UMLS:C1849364
is_a: HP:0009906 ! Aplasia/Hypoplasia of the earlobes

[Term]
id: HP:0000388
name: Otitis media
def: "Inflammation or infection of the middle ear." [https://orcid.org/0000-0002-0736-9199]
synonym: "Middle ear infection" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:65363002
xref: UMLS:C0029882
is_a: HP:0008609 ! Abnormal middle ear morphology
is_a: HP:0012649 ! Increased inflammatory response

[Term]
id: HP:0000389
name: Chronic otitis media
alt_id: HP:0008524
def: "Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Chronic ear infection" RELATED []
synonym: "Chronic infections of the middle ear" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Chronic middle ear infection" RELATED layperson []
synonym: "Otitis media, chronic" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:21186006
xref: UMLS:C0271441
xref: UMLS:C0743359
is_a: HP:0000388 ! Otitis media

[Term]
id: HP:0000391
name: Thickened helices
def: "Increased thickness of the helix of the ear." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Thick helix" EXACT []
xref: UMLS:C1837732
is_a: HP:0011039 ! Abnormal helix morphology

[Term]
id: HP:0000394
name: Lop ear
def: "Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha." [https://orcid.org/0000-0002-0736-9199, PMID:19152421]
comment: The term 'lop ear' refers to excessive protrusion of the ear from the side of the head, that is, the external ear stands away from the head at a greater than normal angle (Normal angle of the auricle to the median plane averages 25 degrees in boys and 18 degrees in girls). Lop ears are usually larger than normal ears. Mild forms are limited to the superior ear, more severe forms affect the superior and posterior ear. The concha may be excessively concave. This should be distinguished from an Overfolded helix where the external contour of the ear is normal.
subset: hposlim_core
xref: SNOMEDCT_US:76223006
xref: UMLS:C0266614
is_a: HP:0000377 ! Abnormal pinna morphology

[Term]
id: HP:0000395
name: Prominent antihelix
def: "The presence of an abnormally prominent antihelix." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
xref: UMLS:C1845272
is_a: HP:0009738 ! Abnormal antihelix morphology

[Term]
id: HP:0000396
name: Overfolded helix
alt_id: HP:0001758
alt_id: HP:0008570
def: "A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear." [https://orcid.org/0000-0002-0736-9199, PMID:19152421]
comment: This is most often seen in the superior helix where it must be distinguished from a Lop ear (where the usual convexity of the posterior border of the ear is lost). Helix folding is highly variable.
subset: hposlim_core
synonym: "Over-folded helices" EXACT []
synonym: "Overfolded ears" EXACT layperson []
synonym: "Overfolded helices" EXACT []
xref: UMLS:C1837731
is_a: HP:0008544 ! Abnormally folded helix

[Term]
id: HP:0000399
name: Prelingual sensorineural hearing impairment
alt_id: HP:0001731
def: "A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech." [https://orcid.org/0000-0002-0736-9199]
synonym: "Deafness, sensorineural, prelingual" EXACT []
synonym: "Prelingual sensorineural deafness" EXACT []
xref: UMLS:C4021806
is_a: HP:0011474 ! Childhood onset sensorineural hearing impairment

[Term]
id: HP:0000400
name: Macrotia
alt_id: HP:0000382
alt_id: HP:0000386
alt_id: HP:0000401
alt_id: HP:0001755
def: "Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective)." [PMID:19152421]
comment: This is acknowledged to be a bundled term but retained here because of its usefulness in practice. Ear length is determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. If only length is increased the term Long ear should be used.
subset: hposlim_core
synonym: "Large ears" EXACT layperson []
synonym: "Large pinnae" EXACT []
xref: SNOMEDCT_US:275480001
xref: SNOMEDCT_US:69056000
xref: UMLS:C0152421
xref: UMLS:C0554972
xref: UMLS:C1835581
xref: UMLS:C1848570
xref: UMLS:C1850189
xref: UMLS:C1855062
xref: UMLS:C1860838
is_a: HP:0000377 ! Abnormal pinna morphology

[Term]
id: HP:0000402
name: Stenosis of the external auditory canal
alt_id: HP:0000373
def: "An abnormal narrowing of the external auditory canal." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "External auditory canal stenosis" EXACT []
synonym: "Narrow auditory canals" EXACT []
synonym: "Narrow ear canal" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Narrow external auditory canals" EXACT []
synonym: "Narrow external auditory meatus" EXACT []
synonym: "Narrowing of passageway from outer ear to middle ear" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Stenotic external auditory canal" EXACT []
xref: SNOMEDCT_US:300127002
xref: SNOMEDCT_US:301061006
xref: UMLS:C0395837
xref: UMLS:C0576860
is_a: HP:0000372 ! Abnormal auditory canal morphology

[Term]
id: HP:0000403
name: Recurrent otitis media
alt_id: HP:0008622
alt_id: HP:0008623
alt_id: HP:0008624
alt_id: HP:0040268
def: "Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media." [https://orcid.org/0000-0002-0736-9199]
synonym: "Frequent otitis media" EXACT []
synonym: "Multiple episodes of otitis media" EXACT []
synonym: "Otitis media, recurrent" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Recurrent episodes of otitis media" EXACT []
synonym: "Recurrent middle ear infection" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Susceptibility to otitis media" EXACT []
xref: UMLS:C0747085
is_a: HP:0000388 ! Otitis media
is_a: HP:0002719 ! Recurrent infections

[Term]
id: HP:0000405
name: Conductive hearing impairment
alt_id: HP:0000367
alt_id: HP:0008581
def: "An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound." [https://orcid.org/0000-0002-0736-9199]
comment: A conductive hearing impariment with greater than 90 dB loss.
subset: hposlim_core
synonym: "Conduction deafness" EXACT []
synonym: "Conductive deafness" EXACT layperson []
synonym: "Conductive hearing loss" EXACT layperson []
synonym: "Hearing loss, conductive" EXACT []
xref: SNOMEDCT_US:44057004
xref: UMLS:C0018777
is_a: HP:0000365 ! Hearing impairment
is_a: HP:0011452 ! Functional abnormality of the middle ear

[Term]
id: HP:0000407
name: Sensorineural hearing impairment
alt_id: HP:0000374
alt_id: HP:0001753
alt_id: HP:0001916
alt_id: HP:0008538
alt_id: HP:0008553
alt_id: HP:0008565
alt_id: HP:0008576
alt_id: HP:0008611
alt_id: HP:0008613
alt_id: HP:0008614
def: "A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve." [https://orcid.org/0000-0002-0736-9199]
comment: Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII, also known as the cochlear nerve).
subset: hposlim_core
synonym: "Hearing loss, sensorineural" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Sensorineural deafness" EXACT []
synonym: "Sensorineural hearing loss" EXACT []
xref: SNOMEDCT_US:60700002
xref: UMLS:C0018784
is_a: HP:0000365 ! Hearing impairment
is_a: HP:0011389 ! Functional abnormality of the inner ear

[Term]
id: HP:0000408
name: Progressive sensorineural hearing impairment
alt_id: HP:0000397
alt_id: HP:0000406
alt_id: HP:0008592
alt_id: HP:0008601
alt_id: HP:0008617
def: "A progressive form of sensorineural hearing impairment." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bilateral progressive sensorineural hearing loss" EXACT []
synonym: "Hearing loss, progressive sensorineural" EXACT []
synonym: "Hearing loss, sensorineural, bilateral, progressive" EXACT []
synonym: "Hearing loss, sensorineural, progressive" EXACT []
synonym: "Progressive bilateral sensorineural hearing loss" EXACT []
synonym: "Sensorineural hearing loss, progressive" EXACT []
xref: UMLS:C1843156
is_a: HP:0000407 ! Sensorineural hearing impairment
is_a: HP:0001730 ! Progressive hearing impairment

[Term]
id: HP:0000410
name: Mixed hearing impairment
def: "A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hearing loss, mixed" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Mixed hearing impairment" EXACT layperson []
synonym: "Mixed hearing loss" EXACT layperson []
xref: SNOMEDCT_US:77507001
xref: UMLS:C0155552
is_a: HP:0000405 ! Conductive hearing impairment
is_a: HP:0000407 ! Sensorineural hearing impairment

[Term]
id: HP:0000411
name: Protruding ear
alt_id: HP:0000412
def: "Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective)." [PMID:19152421]
synonym: "Prominent ear" EXACT layperson []
synonym: "Prominent ears" EXACT layperson []
synonym: "Protruding ears" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:275478007
xref: UMLS:C1305420
xref: UMLS:C1855285
is_a: HP:0000377 ! Abnormal pinna morphology

[Term]
id: HP:0000413
name: Atresia of the external auditory canal
alt_id: HP:0008547
alt_id: HP:0008564
alt_id: HP:0008626
def: "Absence or failure to form of the external auditory canal." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Absent auditory canals" EXACT []
synonym: "Absent ear canal" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent external auditory canals" EXACT []
synonym: "Atresia of the external auditory canals" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Atretic auditory canal" EXACT []
synonym: "Atretic auditory canals" EXACT []
synonym: "Atretic external auditory canal" EXACT []
synonym: "Atretic external auditory canals" EXACT []
synonym: "Auditory canal atresia" EXACT []
synonym: "External acoustic meatus atresia" EXACT []
synonym: "External auditory canal atresia" EXACT []
synonym: "External auditory meatal atresia" EXACT []
synonym: "External auditory meatus atresia" EXACT []
xref: UMLS:C1398325
xref: UMLS:C1840305
xref: UMLS:C1857079
xref: UMLS:C1866190
is_a: HP:0000372 ! Abnormal auditory canal morphology

[Term]
id: HP:0000414
name: Bulbous nose
alt_id: HP:0000443
def: "Increased volume and globular shape of the anteroinferior aspect of the nose." [PMID:19152422]
comment: This is a bundled term, but as it is useful in practice it is kept here. This alteration of size and shape may be limited to the tip, but may involve the lower third of the nose. If only the width of the nasal tip is increased this should be coded as Broad nasal tip.
synonym: "Bulbous nasal tip" RELATED []
synonym: "Bulbous nose" EXACT layperson []
synonym: "Potato nose" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C0240543
xref: UMLS:C1834118
xref: UMLS:C1855751
is_a: HP:0000436 ! Abnormal nasal tip morphology

[Term]
id: HP:0000415
name: Abnormal choanae morphology
def: "Abnormality of the choanae (the posterior nasal apertures)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the choanae" EXACT []
xref: UMLS:C4025855
is_a: HP:0005105 ! Abnormal nasal morphology

[Term]
id: HP:0000417
name: Slender nose
synonym: "Slender nose" EXACT layperson []
xref: UMLS:C1857645
is_a: HP:0005105 ! Abnormal nasal morphology

[Term]
id: HP:0000418
name: Narrow nasal ridge
def: "Decreased width of the nasal ridge." [PMID:19152422]
comment: This feature may be accompanied by narrow nasal bridge and narrow nasal base, which should be coded separately.
synonym: "Decreased width of dorsum of nose" EXACT []
synonym: "Decreased width of nasal dorsum" EXACT []
synonym: "Decreased width of nasal ridge" EXACT layperson []
synonym: "Narrow dorsum of nose" EXACT []
synonym: "Narrow nasal dorsum" EXACT []
synonym: "Narrow nasal ridge" EXACT layperson []
synonym: "Pinched nose" EXACT layperson []
synonym: "Thin dorsum of nose" EXACT []
synonym: "Thin nasal dorsum" EXACT []
synonym: "Thin nasal ridge" EXACT layperson []
xref: UMLS:C1837761
is_a: HP:0011119 ! Abnormal nasal dorsum morphology

[Term]
id: HP:0000419
name: Abnormal nasal septum morphology
def: "An abnormality of the nasal septum." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of septum of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the nasal septum" EXACT layperson []
synonym: "Anomaly of nasal septum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Anomaly of septum of nose" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:95433000
xref: UMLS:C0151790
is_a: HP:0005105 ! Abnormal nasal morphology

[Term]
id: HP:0000420
name: Short nasal septum
def: "Reduced superior to inferior length of the nasal septum." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Decreased length of nasal septum" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased length of septum of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Short nasal septum" EXACT layperson []
synonym: "Short septum of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1844857
is_a: HP:0000419 ! Abnormal nasal septum morphology

[Term]
id: HP:0000421
name: Epistaxis
def: "Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bloody nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Frequent nosebleeds" EXACT layperson []
synonym: "Nasal haemorrhage" EXACT uk_spelling []
synonym: "Nasal hemorrhage" EXACT [NCIT:C26766]
synonym: "Nose bleed" EXACT layperson [NCIT:C26766]
synonym: "Nose bleeding" EXACT layperson []
synonym: "Nosebleed" EXACT layperson [NCIT:C26766]
xref: COHD:318556
xref: EFO:0003895
xref: ICD10:R04.0
xref: ICD9:784.7
xref: NCIT:C26766
xref: SNOMEDCT_US:12441001
xref: SNOMEDCT_US:249366005
xref: UMLS:C0014591
is_a: HP:0000366 ! Abnormality of the nose
is_a: HP:0001892 ! Abnormal bleeding

[Term]
id: HP:0000422
name: Abnormal nasal bridge morphology
alt_id: HP:0000423
def: "Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi." [https://orcid.org/0000-0002-0736-9199, PMID:19152422]
comment: The nasal root is the most depressed, superior part of the nose along the nasal ridge.
subset: hposlim_core
synonym: "Abnormality of the bridge of the nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the nasal bridge" EXACT layperson []
synonym: "Abnormality of the nasal root" EXACT []
synonym: "Deformity of the bridge of the nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the nasal bridge" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the bridge of the nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the nasal bridge" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4021805
is_a: HP:0005105 ! Abnormal nasal morphology

[Term]
id: HP:0000426
name: Prominent nasal bridge
alt_id: HP:0000432
alt_id: HP:0000442
alt_id: HP:0004498
alt_id: HP:0005287
def: "Anterior positioning of the nasal root in comparison to the usual positioning for age." [PMID:19152422]
comment: A prominent nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed separately. The nasal bridge becomes more prominent with age. Although the nasal root may be anteriorly placed without increasing the space between the eyes, prominence of the nasal bridge may be accompanied by Telecanthus or ocular Hypertelorism. If such findings are present these should be coded separately. Deep-set eyes may lead to the impression of a prominent nasal bridge, but this finding should be coded separately.
synonym: "Convex bridge of nose" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Convex nasal bridge" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Elevated nasal bridge" EXACT layperson []
synonym: "High nasal bridge" EXACT layperson []
synonym: "Prominent bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Prominent nasal bridge" EXACT layperson []
synonym: "Prominent nasal root" EXACT layperson []
synonym: "Protruding bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Protruding nasal bridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1854113
xref: UMLS:C4230640
is_a: HP:0000422 ! Abnormal nasal bridge morphology

[Term]
id: HP:0000429
name: Abnormal morphology of the nasal alae
def: "An abnormality of the Ala of nose." [https://orcid.org/0000-0002-0736-9199, PMID:19152422]
comment: The nasal ala is the tissue comprising the lateral boundary of the nose, inferiorly, surrounding the naris.
subset: hposlim_core
synonym: "Abnormality of the nasal ala" EXACT []
synonym: "Abnormality of the nasal alae" EXACT []
synonym: "Abnormality of the nasal alar cartilage" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the nasal ala" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the nasal alar cartilage" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the nasal ala" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the nasal alar cartilage" NARROW [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C2227020
xref: UMLS:C4021804
xref: UMLS:C4280631
xref: UMLS:C4280632
is_a: HP:0010938 ! Abnormal external nose morphology

[Term]
id: HP:0000430
name: Underdeveloped nasal alae
alt_id: HP:0004497
alt_id: HP:0004507
alt_id: HP:0005276
alt_id: HP:0005277
alt_id: HP:0005286
def: "Thinned, deficient, or excessively arched ala nasi." [PMID:19152422]
comment: The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a Cleft ala nasi, but have a severely underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted. With severe hypoplasia of the nasal alae, the nasal tip may appear depressed.
subset: hposlim_core
synonym: "Ala nasi, underdeveloped" EXACT []
synonym: "Alar cartilage hypoplasia" EXACT []
synonym: "Decreased size of nasal alae" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplastic alae nasae" EXACT []
synonym: "Hypoplastic alae nasi" EXACT []
synonym: "Hypoplastic alar cartilage" EXACT []
synonym: "Hypoplastic alar nasae" EXACT []
synonym: "Hypoplastic nares" EXACT []
synonym: "Hypoplastic nasal alae" EXACT []
synonym: "Hypoplastic nasal wings" EXACT []
synonym: "Hypoplastic nostrils" EXACT []
synonym: "Nasal cartilage hypoplasia" EXACT []
synonym: "Small nasal alae" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Thin hypoplastic alae nasi" EXACT []
synonym: "Underdeveloped tissue around nostril" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1834055
is_a: HP:0000429 ! Abnormal morphology of the nasal alae
is_a: HP:0009924 ! Aplasia/Hypoplasia involving the nose

[Term]
id: HP:0000431
name: Wide nasal bridge
alt_id: HP:0000424
alt_id: HP:0004500
alt_id: HP:0004504
alt_id: HP:0004650
alt_id: HP:0200139
def: "Increased breadth of the nasal bridge (and with it, the nasal root)." [https://orcid.org/0000-0002-0736-9199, PMID:19152422]
comment: Care should be taken to distinguish between increased width of bone and Fullness of paranasal tissue. A wide nasal bridge should be distinguished from Telecanthus and Hypertelorism. A wide nasal bridge can be either prominent or depressed, which should be coded separately.
synonym: "Broad flat nasal bridge" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Broad nasal bridge" EXACT layperson []
synonym: "Broad nasal root" EXACT layperson []
synonym: "Broadened nasal bridge" EXACT layperson []
synonym: "Increased breadth of bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased breadth of nasal bridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased width of bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased width of nasal bridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Nasal bridge broad" EXACT layperson []
synonym: "Nasal bridge, wide" EXACT []
synonym: "Wide bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Wide nasal bridge" EXACT layperson []
synonym: "Widened nasal bridge" EXACT layperson []
xref: SNOMEDCT_US:249321001
xref: UMLS:C1839764
xref: UMLS:C1849367
is_a: HP:0000422 ! Abnormal nasal bridge morphology

[Term]
id: HP:0000433
name: Abnormal nasal mucosa morphology
synonym: "Abnormality of mucosa of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of mucous membrane of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of nasal mucous membrane" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the nasal mucosa" EXACT layperson []
xref: UMLS:C4025854
is_a: HP:0005105 ! Abnormal nasal morphology

[Term]
id: HP:0000434
name: Nasal mucosa telangiectasia
def: "Telangiectasia of the nasal mucosa." [https://orcid.org/0000-0002-0736-9199]
synonym: "Angioectasia of mucosa of nose" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Angioectasia of mucous membrane of nose" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Angioectasia of nasal mucous membrane" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Nasal mucous membrane telangiectasia" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Spider veins of mucosa of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Spider veins of mucous membrane of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Spider veins of nasal mucous membrane" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Telangiectasia of mucosa of nose" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Telangiectasia of mucous membrane of nose" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Telangiectasia of nasal mucous membrane" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025853
is_a: HP:0000433 ! Abnormal nasal mucosa morphology
is_a: HP:0100579 ! Mucosal telangiectasiae

[Term]
id: HP:0000436
name: Abnormal nasal tip morphology
def: "An abnormality of the nasal tip." [https://orcid.org/0000-0002-0736-9199, PMID:19152422]
comment: The nasal tip is located at the junction of the inferior margin of the nasal ridge and the columella. Commonly, it is the part of the nose furthest from the plane of the face. In rare circumstances, such as markedly prominent and convex nasal profiles, other parts of the ridge may be further removed from the facial plane.
subset: hposlim_core
synonym: "Abnormality of the nasal tip" EXACT layperson []
synonym: "Abnormality of tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the nasal tip" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of tip of nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the nasal tip" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of tip of nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025852
is_a: HP:0010938 ! Abnormal external nose morphology

[Term]
id: HP:0000437
name: Depressed nasal tip
alt_id: HP:0005279
def: "Decreased distance from the nasal tip to the nasal base." [PMID:19152422]
comment: This often accompanies a Short columella, Overhanging nasal tip, and Underdeveloped nasal tip, but these should be assessed and coded separately.
subset: hposlim_core
synonym: "Caved in nasal tip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Depressed nasal tip" EXACT layperson []
synonym: "Depressed tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Flat nasal tip" EXACT layperson []
synonym: "Flat tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Flattened nasal tip" EXACT layperson []
synonym: "Nasal tip, depressed" EXACT layperson []
synonym: "Nasal tip, recessed" EXACT []
synonym: "Nasal tip, retruded" EXACT []
synonym: "Retruded tip of nose" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1859717
is_a: HP:0000436 ! Abnormal nasal tip morphology

[Term]
id: HP:0000444
name: Convex nasal ridge
alt_id: HP:0003683
def: "Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low." [PMID:19152422]
subset: hposlim_core
synonym: "Beaked nose" EXACT layperson []
synonym: "Beaklike protrusion" EXACT layperson []
synonym: "Convex dorsum of nose" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Convex nasal dorsum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hooked nose" EXACT layperson []
synonym: "Polly beak nasal deformity" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C0240538
is_a: HP:0011119 ! Abnormal nasal dorsum morphology

[Term]
id: HP:0000445
name: Wide nose
alt_id: HP:0000438
def: "Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae." [PMID:19152422]
subset: hposlim_core
synonym: "Broad nose" EXACT layperson []
synonym: "Increased breadth of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased nasal breadth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased nasal width" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased width of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Wide nose" EXACT layperson []
xref: SNOMEDCT_US:249321001
xref: UMLS:C0426421
is_a: HP:0005105 ! Abnormal nasal morphology

[Term]
id: HP:0000446
name: Narrow nasal bridge
alt_id: HP:0100782
def: "Decreased width of the bony bridge of the nose." [PMID:19152422]
comment: The narrowness may be accompanied by a sharp, keel-shaped appearance. The nasal bridge may narrow with age.
subset: hposlim_core
synonym: "Narrow bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Narrow nasal bridge" EXACT layperson []
synonym: "Narrow nasal root" EXACT []
synonym: "Nasal Bridge, Narrow" EXACT layperson []
synonym: "Nasal bridge, thin" EXACT layperson []
synonym: "Pinched bridge of nose" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Pinched nasal bridge" RELATED layperson []
xref: UMLS:C4551564
is_a: HP:0000422 ! Abnormal nasal bridge morphology

[Term]
id: HP:0000447
name: Pear-shaped nose
synonym: "Pear-shaped nose" EXACT layperson []
xref: UMLS:C1853482
is_a: HP:0005105 ! Abnormal nasal morphology

[Term]
id: HP:0000448
name: Prominent nose
alt_id: HP:0000461
alt_id: HP:0005271
alt_id: HP:0200140
def: "Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip." [PMID:19152422]
subset: hposlim_core
synonym: "Big nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Disproportionately large nose" EXACT layperson []
synonym: "Hyperplasia of nose" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypertrophy of nose" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased nasal size" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased size of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Large nose" EXACT layperson []
synonym: "Nasal hyperplasia" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Nasal hypertrophy" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Prominent nose" EXACT layperson []
synonym: "Pronounced nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:249311009
xref: UMLS:C0426415
xref: UMLS:C1400105
xref: UMLS:C4280629
is_a: HP:0005105 ! Abnormal nasal morphology

[Term]
id: HP:0000451
name: Triangular nasal tip
synonym: "Triangular nasal tip" EXACT layperson []
synonym: "Triangular shaped tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1839765
is_a: HP:0000436 ! Abnormal nasal tip morphology

[Term]
id: HP:0000452
name: Choanal stenosis
def: "Abnormal narrowing of the choana (the posterior nasal aperture)." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Coanal stenosis" EXACT []
synonym: "Narrowing of the rear opening of the nasal cavity" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:306963008
xref: UMLS:C0584837
is_a: HP:0000415 ! Abnormal choanae morphology

[Term]
id: HP:0000453
name: Choanal atresia
alt_id: HP:0000416
alt_id: HP:0004496
alt_id: HP:0004503
def: "Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral." [https://orcid.org/0000-0001-5889-4463, PMID:4996574]
subset: hposlim_core
synonym: "Blockage of the rear opening of the nasal cavity" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: Fyler:4203
xref: SNOMEDCT_US:204508009
xref: UMLS:C0008297
is_a: HP:0000415 ! Abnormal choanae morphology

[Term]
id: HP:0000454
name: Flared nostrils
synonym: "Flared nasal alae" EXACT []
synonym: "Flared nostrils" EXACT layperson []
xref: SNOMEDCT_US:21558008
xref: SNOMEDCT_US:248568003
xref: UMLS:C0277873
is_a: HP:0000429 ! Abnormal morphology of the nasal alae

[Term]
id: HP:0000455
name: Broad nasal tip
alt_id: HP:0004501
alt_id: HP:0005269
def: "Increase in width of the nasal tip." [https://orcid.org/0000-0002-0736-9199, PMID:19152422]
comment: Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available. See Bulbous nose for a related term.
synonym: "Broad nasal tip" EXACT layperson []
synonym: "Broad tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Broad upturned nose" RELATED layperson []
synonym: "Broad, upturned nose" EXACT layperson []
synonym: "Increased breadth of nasal tip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased breadth of tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased width of nasal tip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased width of tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Nasal tip, broad" EXACT layperson []
synonym: "Nasal tip, wide" EXACT layperson []
synonym: "Wide tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:249327002
xref: UMLS:C0426429
is_a: HP:0000436 ! Abnormal nasal tip morphology

[Term]
id: HP:0000456
name: Bifid nasal tip
alt_id: HP:0005282
def: "A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip." [https://orcid.org/0009-0006-4530-3154, PMID:19152422]
comment: This is a rare congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation.
synonym: "Bifid tip of nose" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Cleft nasal tip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Cleft tip of nose" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Notched nasal tip" RELATED layperson []
synonym: "Notched tip of nose" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:249326006
xref: UMLS:C0426428
xref: UMLS:C4020890
is_a: HP:0000436 ! Abnormal nasal tip morphology

[Term]
id: HP:0000457
name: Depressed nasal ridge
def: "Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge." [https://orcid.org/0000-0002-0736-9199, PMID:19152422]
comment: The adjective 'depressed' here does not indicate an active process but a status. The feature should be assessed in a profile view. This finding is typically associated with a Short columella, but this should be assessed separately.
subset: hposlim_core
synonym: "Depressed dorsum of nose" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Depressed nasal dorsum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Flat dorsum of nose" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Flat nasal dorsum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Flat nose" EXACT layperson []
synonym: "Recessed dorsum of nose" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Recessed nasal dorsum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Recessed nasal ridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Retruded dorsum of nose" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Retruded nasal dorsum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Retruded nasal ridge" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1842876
is_a: HP:0011119 ! Abnormal nasal dorsum morphology

[Term]
id: HP:0000458
name: Anosmia
def: "An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Loss of smell" EXACT []
synonym: "Lost smell" EXACT layperson []
xref: SNOMEDCT_US:44169009
xref: UMLS:C0003126
is_a: HP:0004408 ! Abnormality of the sense of smell

[Term]
id: HP:0000460
name: Narrow nose
def: "Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae." [PMID:19152422]
comment: Note: a small nose has both decreased height and a decreased width. These should be coded separately.
synonym: "Decreased nasal breadth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased nasal width" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Narrow nose" EXACT layperson []
synonym: "Thin nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:249322008
xref: UMLS:C0426422
is_a: HP:0005105 ! Abnormal nasal morphology

[Term]
id: HP:0000463
name: Anteverted nares
alt_id: HP:0000427
alt_id: HP:0000435
alt_id: HP:0000441
alt_id: HP:0004495
def: "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip)." [PMID:19152422]
comment: The tip of the nose is upturned and is positioned superiorly to the nasal base, allowing the nares to be easily visualized from the front. With maturation and growth of the nasal ridge and tip, the nares usually become more downwardly directed.
synonym: "Anteverted nose" EXACT []
synonym: "Anteverted nostrils" EXACT []
synonym: "Nasal tip, upturned" EXACT layperson []
synonym: "Nostrils anteverted" EXACT []
synonym: "Upturned nares" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Upturned nasal tip" EXACT layperson []
synonym: "Upturned nasal tips" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Upturned nose" EXACT layperson []
synonym: "Upturned nostrils" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:708670007
xref: UMLS:C1840077
is_a: HP:0000429 ! Abnormal morphology of the nasal alae
is_a: HP:0005288 ! Abnormal nostril morphology

[Term]
id: HP:0000464
name: Abnormality of the neck
def: "An abnormality of the neck." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the neck" EXACT layperson []
synonym: "Anomaly of the neck" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the neck" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the neck" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:298390003
xref: SNOMEDCT_US:40052002
xref: UMLS:C0266623
xref: UMLS:C0575167
xref: UMLS:C4280628
is_a: HP:0000152 ! Abnormality of head or neck

[Term]
id: HP:0000465
name: Webbed neck
def: "Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline." [https://orcid.org/0000-0002-0736-9199, PMID:24523736]
subset: hposlim_core
synonym: "Neck webbing" EXACT layperson []
synonym: "Pterygium colli" EXACT []
synonym: "Webbed neck" EXACT layperson []
xref: SNOMEDCT_US:11731003
xref: UMLS:C0221217
is_a: HP:0025668 ! Abnormal neck morphology

[Term]
id: HP:0000466
name: Limited neck range of motion
synonym: "Limited cervical range of motion" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Limited neck range of motion" EXACT layperson []
xref: UMLS:C1859212
is_a: HP:0005986 ! Limitation of neck motion

[Term]
id: HP:0000467
name: Neck muscle weakness
def: "Decreased strength of the neck musculature." [https://orcid.org/0000-0002-0736-9199]
synonym: "Flaccid neck" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Floppy neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Neck muscle weakness" EXACT layperson []
xref: UMLS:C0240479
is_a: HP:0001324 ! Muscle weakness

[Term]
id: HP:0000468
name: Increased adipose tissue around the neck
def: "An increased amount of subcutaneous fat tissue around the neck." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased fat around the neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025850
is_a: HP:0009126 ! Increased adipose tissue
is_a: HP:0025668 ! Abnormal neck morphology

[Term]
id: HP:0000470
name: Short neck
alt_id: HP:0005992
alt_id: HP:0200137
def: "Diminished length of the neck." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Cervical shortening" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased cervical height" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased cervical length" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased length of neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Short neck" EXACT layperson []
xref: SNOMEDCT_US:95427009
xref: UMLS:C0521525
is_a: HP:0003319 ! Abnormality of the cervical spine
is_a: HP:0025668 ! Abnormal neck morphology

[Term]
id: HP:0000471
name: Gastrointestinal angiodysplasia
def: "Dysplasia affecting the vasculature of the gastrointestinal tract." [https://orcid.org/0000-0002-0736-9199]
synonym: "GI angiodysplasia" EXACT abbreviation []
xref: UMLS:C0854242
is_a: HP:0004296 ! Abnormal gastrointestinal vascular morphology

[Term]
id: HP:0000472
name: Long neck
def: "Increased inferior-superior length of the neck." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Cervical elongation" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Elongated neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased cervical length" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased length of neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Long neck" EXACT layperson []
xref: UMLS:C1839816
is_a: HP:0025668 ! Abnormal neck morphology

[Term]
id: HP:0000473
name: Torticollis
def: "Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head." [https://orcid.org/0000-0002-0736-9199]
comment: The word torticollis comes from Latin words meaning twisted neck. Spasmodic torticollis is a focal dystonia that affects the neck and sometimes the shoulders, leading to involuntary contractions of the neck muscles, abnormal movements and postures of the head and neck. The abnormal movements can have both tonic and clonic components and can results in pain and discomfort. Spasmodic torticollis is the most common focal dystonia.
synonym: "Cervical dystonia" EXACT []
synonym: "Loxia" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Spasmodic torticollis" EXACT []
synonym: "Wry neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:270476009
xref: SNOMEDCT_US:70070008
xref: SNOMEDCT_US:74333002
xref: UMLS:C0040485
xref: UMLS:C0152116
xref: UMLS:C0949445
is_a: HP:0011006 ! Abnormal morphology of the musculature of the neck
is_a: HP:0011442 ! Abnormal central motor function
is_a: HP:0012179 ! Craniofacial dystonia

[Term]
id: HP:0000474
name: Thickened nuchal skin fold
alt_id: HP:0000477
def: "A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome." [https://orcid.org/0000-0002-0736-9199, PMID:16100637, PMID:30431620]
comment: The measurement of nuchal fold (NF) thickness during the second trimester is considered to be one of the most sensitive and specific isolated ultrasound marker for the identification of suspected cases of trisomy 21. Thick NF may also be seen in other aneuploidies as well as Turner's syndrome, Noonan's syndrome, Roberts syndrome, Zellweger syndrome and with congenital heart disease and with pathogenic CNVs. A thickened nuchal fold should be distinguished from cystic hygroma, in which the skin in this area has fluid-filled loculations. A thickened nuchal fold should not be confused with nuchal translucency, which is a specific measurement of fluid in the posterior aspect of the neck at 11 to 14 weeks gestation (see practice guidelines at http://www.sogc.org).
subset: hposlim_core
synonym: "Excess nuchal skin" EXACT []
synonym: "Increased nuchal fold" EXACT []
synonym: "Increased nuchal fold thickness" EXACT []
synonym: "Thick nuchal fold" EXACT []
synonym: "Thickened nuchal skin" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Thickened skin folds of neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thickened skin over the neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1836940
is_a: HP:0011425 ! Fetal ultrasound soft marker
is_a: HP:0025667 ! Fetal neck anomaly

[Term]
id: HP:0000475
name: Broad neck
def: "Increased side-to-side width of the neck." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Broad neck" EXACT layperson []
synonym: "Increased width of neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thick neck" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Wide neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1853638
is_a: HP:0025668 ! Abnormal neck morphology

[Term]
id: HP:0000476
name: Cystic hygroma
def: "A cystic lymphatic lesion of the neck." [https://orcid.org/0000-0002-0736-9199]
comment: Cystic hygroma refers to a cystic lymphatic lesion, that can in principle occur anywhere in the body, but is most commonly seen in the head and neck region. The term 'Cystic hygroma' alone is generally used to refer to cystic hygroma of the neck.
synonym: "Cystic hygroma of the neck" EXACT []
xref: NCIT:C8965
xref: SNOMEDCT_US:399882002
xref: SNOMEDCT_US:40225001
xref: SNOMEDCT_US:423984004
xref: UMLS:C0206620
is_a: HP:0025668 ! Abnormal neck morphology

[Term]
id: HP:0000478
name: Abnormality of the eye
def: "Any abnormality of the eye, including location, spacing, and intraocular abnormalities." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormal eye" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Abnormality of the eye" EXACT layperson []
synonym: "Eye disease" RELATED layperson []
xref: SNOMEDCT_US:19416009
xref: SNOMEDCT_US:371405004
xref: SNOMEDCT_US:371409005
xref: UMLS:C0015393
xref: UMLS:C0015397
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0000479
name: Abnormal retinal morphology
alt_id: HP:0007938
def: "A structural abnormality of the retina." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormal retina" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Abnormality of the retina" EXACT []
synonym: "Anomaly of the retina" EXACT []
synonym: "Retina issue" EXACT layperson []
synonym: "Retinal disease" RELATED []
xref: SNOMEDCT_US:29555009
xref: UMLS:C0035300
xref: UMLS:C0035309
is_a: HP:0001098 ! Abnormal fundus morphology

[Term]
id: HP:0000480
name: Retinal coloboma
alt_id: HP:0007808
def: "A notch or cleft of the retina." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Hole in the back of the eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C3540764
is_a: HP:0000479 ! Abnormal retinal morphology
is_a: HP:0000589 ! Coloboma

[Term]
id: HP:0000481
name: Abnormal cornea morphology
alt_id: HP:0007771
alt_id: HP:0007972
def: "Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the cornea" EXACT []
synonym: "Corneal abnormalities" EXACT []
synonym: "Corneal abnormality" EXACT []
synonym: "Cornela disease" RELATED []
xref: UMLS:C1855670
xref: UMLS:C4020889
is_a: HP:0004328 ! Abnormal anterior eye segment morphology

[Term]
id: HP:0000482
name: Microcornea
alt_id: HP:0100688
def: "A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood." [https://orcid.org/0000-0002-0736-9199]
comment: Note that the cornea's diameter is normally about 9.5-10.0 mm at birth and reaches 10.0-12-5 mm in adulthood.
subset: hposlim_core
synonym: "Cornea of eye less than 10mm in diameter" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Decreased corneal diameter" EXACT []
xref: SNOMEDCT_US:26098002
xref: UMLS:C0266544
xref: UMLS:C1167713
is_a: HP:0001120 ! Abnormality of corneal size

[Term]
id: HP:0000483
name: Astigmatism
def: "A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea." [HPO_CONTRIBUTOR:DDD_ncarter, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123]
comment: The irregular curvature associated with astigmatism means that the optical system is not symmetric about the optical axis. Most commonly the cornea is affected such that the refractive power in one meridian is less than that of the perpendicular axis. Astigmatism of significant degree causes blurry vision.
subset: hposlim_core
synonym: "Abnormal curving of the cornea or lens of the eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Astigmatism" EXACT layperson []
xref: SNOMEDCT_US:82649003
xref: UMLS:C0004106
is_a: HP:0000539 ! Abnormality of refraction
is_a: HP:0100691 ! Abnormality of the curvature of the cornea

[Term]
id: HP:0000484
name: Hyperopic astigmatism
def: "A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:449734001
xref: UMLS:C1847524
is_a: HP:0000483 ! Astigmatism

[Term]
id: HP:0000485
name: Megalocornea
alt_id: HP:0007660
def: "An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Anterior megalophthalmos" EXACT []
synonym: "Enlarged cornea" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Increased corneal diameter" EXACT []
synonym: "Macrocornea" EXACT []
xref: SNOMEDCT_US:204118005
xref: SNOMEDCT_US:268158009
xref: UMLS:C0344530
xref: UMLS:C1167712
is_a: HP:0001120 ! Abnormality of corneal size

[Term]
id: HP:0000486
name: Strabismus
alt_id: HP:0000487
def: "A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123, PMID:26319345]
subset: hposlim_core
synonym: "Cross-eyed" EXACT layperson []
synonym: "Squint" EXACT layperson []
synonym: "Squint eyes" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:128602000
xref: SNOMEDCT_US:22066006
xref: UMLS:C0038379
is_a: HP:0000549 ! Abnormal conjugate eye movement

[Term]
id: HP:0000487
name: obsolete Congenital strabismus
is_obsolete: true
replaced_by: HP:0000486

[Term]
id: HP:0000488
name: Retinopathy
def: "Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Noninflammatory retina disease" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:29555009
xref: UMLS:C0035309
is_a: HP:0000479 ! Abnormal retinal morphology

[Term]
id: HP:0000489
name: obsolete Abnormality of globe location or size
is_obsolete: true
consider: HP:0100886
consider: HP:0100887

[Term]
id: HP:0000490
name: Deeply set eye
alt_id: HP:0000663
def: "An eye that is more deeply recessed into the plane of the face than is typical." [PMID:19125427]
comment: This finding should be distinguished from a prominent supraorbital ridge or inferior orbital margin. In Deeply set eyes, the globe is recessed in comparison to the overall prominence of the face. There is no known objective measurement, and diagnosing this feature depends heavily on the experience of the observer.
subset: hposlim_core
synonym: "Deep set eye" EXACT layperson []
synonym: "Deep-set eyes" EXACT layperson []
synonym: "Deeply set eye" EXACT layperson []
synonym: "Enophthalmos" EXACT []
synonym: "Ocular depression" EXACT []
synonym: "Sunken eye" EXACT layperson []
synonym: "Sunken eyes" EXACT []
xref: SNOMEDCT_US:246923005
xref: SNOMEDCT_US:80093006
xref: UMLS:C0014306
xref: UMLS:C0423224
is_a: HP:0100886 ! Abnormality of globe location

[Term]
id: HP:0000491
name: Keratitis
def: "Inflammation of the cornea." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Corneal inflammation" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:5888003
xref: UMLS:C0022568
is_a: HP:0011495 ! Abnormal corneal epithelium morphology
is_a: HP:0100533 ! Inflammatory abnormality of the eye

[Term]
id: HP:0000492
name: Abnormal eyelid morphology
alt_id: HP:0000285
def: "An abnormality of the eyelids." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the eyelid" EXACT layperson []
synonym: "Abnormality of the eyelids" EXACT layperson []
xref: UMLS:C4021803
is_a: HP:0030669 ! Abnormal ocular adnexa morphology

[Term]
id: HP:0000493
name: Abnormal foveal morphology
def: "An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the fovea" EXACT []
xref: UMLS:C4025849
is_a: HP:0001103 ! Abnormal macular morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-02T01:29:00Z

[Term]
id: HP:0000494
name: Downslanted palpebral fissures
alt_id: HP:0007714
alt_id: HP:0007908
def: "The palpebral fissure inclination is more than two standard deviations below the mean." [PMID:19125427]
subset: hposlim_core
synonym: "Antimongoloid eye slant" EXACT []
synonym: "Antimongoloid slant of palpebral fissures" EXACT []
synonym: "Antimongoloid slanted palpebral fissures" EXACT []
synonym: "Down slanting palpebral fissures" EXACT []
synonym: "Down-slanted palpebral fissures" EXACT []
synonym: "Down-slanting palpebral fissure" EXACT []
synonym: "Down-slanting palpebral fissures" EXACT []
synonym: "Downslanting palpebral fissure" EXACT []
synonym: "Downslanting palpebral fissures" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Downward slanted palpebral fissures" EXACT []
synonym: "Downward slanting of the opening between the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Downward slanting palpebral fissures" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Downward-slanting palpebral fissures" EXACT []
synonym: "Palpebral fissures down-slanted" EXACT []
xref: SNOMEDCT_US:246800008
xref: UMLS:C0423110
is_a: HP:0200006 ! Slanting of the palpebral fissure

[Term]
id: HP:0000495
name: Recurrent corneal erosions
alt_id: HP:0007674
alt_id: HP:0007749
def: "The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations." [https://orcid.org/0000-0002-0736-9199]
synonym: "Corneal erosions, recurrent" EXACT []
synonym: "Epithelial corneal erosions" RELATED []
synonym: "Recurrent breakdown of clear protective layer of eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Recurrent corneal ulceration" EXACT []
synonym: "Recurrent corneal ulcerations" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:2055003
xref: SNOMEDCT_US:91514001
xref: UMLS:C0010043
xref: UMLS:C0155119
xref: UMLS:C4020888
is_a: HP:0200020 ! Corneal erosion

[Term]
id: HP:0000496
name: Abnormality of eye movement
alt_id: HP:0006860
def: "An abnormality in voluntary or involuntary eye movements or their control." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormal extraocular movement" EXACT []
synonym: "Abnormal extraocular movements" EXACT []
synonym: "Abnormal eye motility" EXACT []
synonym: "Abnormal eye movement" EXACT layperson []
synonym: "Abnormal eye movements" EXACT layperson []
synonym: "Abnormal motility of the globe of the eye" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormal movement of the globe of the eye" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormal ocular movements" EXACT []
synonym: "Abnormality of eye movement" EXACT layperson []
synonym: "Eye movement abnormalities" EXACT layperson []
synonym: "Eye movement issue" EXACT layperson []
synonym: "Ocular movement abnormalities" EXACT []
synonym: "Oculomotor abnormalities" EXACT []
xref: SNOMEDCT_US:103252009
xref: UMLS:C0497202
is_a: HP:0012373 ! Abnormal eye physiology

[Term]
id: HP:0000497
name: Globe retraction and deviation on abduction
xref: UMLS:C4025848
is_a: HP:0011347 ! Abnormality of ocular abduction

[Term]
id: HP:0000498
name: Blepharitis
def: "Inflammation of the eyelids." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Cellulitis of eyelids" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Inflammation of eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:231796003
xref: SNOMEDCT_US:41446000
xref: UMLS:C0005741
xref: UMLS:C0339063
is_a: HP:0000492 ! Abnormal eyelid morphology
is_a: HP:0100533 ! Inflammatory abnormality of the eye

[Term]
id: HP:0000499
name: Abnormal eyelash morphology
alt_id: HP:0004530
def: "An abnormality of the eyelashes." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormal eyelashes" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Abnormality of the eyelashes" EXACT layperson []
synonym: "Eyelash abnormality" EXACT layperson []
xref: UMLS:C2675111
is_a: HP:0000492 ! Abnormal eyelid morphology
is_a: HP:0001595 ! Abnormal hair morphology

[Term]
id: HP:0000501
name: Glaucoma
def: "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [https://orcid.org/0000-0002-0736-9199, PMID:11815354]
comment: The feature that differentiates glaucoma from other causes of visual morbidity is a characteristic pattern of damage to the optic nerve head. This is most easily recognized at the superior and inferior poles of the optic disc. The vertical cup:disk ratio (VCDR) has proved to be a simple, relatively robust index of glaucomatous loss of the neuroretinal rim. As with intraocular pressure, VCDR is a continuous variable within the population.
subset: hposlim_core
xref: SNOMEDCT_US:23986001
xref: UMLS:C0017601
is_a: HP:0012373 ! Abnormal eye physiology

[Term]
id: HP:0000502
name: Abnormal conjunctiva morphology
def: "An abnormality of the conjunctiva." [https://orcid.org/0000-0002-0736-9199]
comment: The conjunctiva is a thin, sparsely vascularized transparent membrane that covers and protects the sclera (the bulbar conjunctiva), and forms the inner lining of the eyelids (the tarsal conjunctiva).
subset: hposlim_core
xref: UMLS:C4025847
is_a: HP:0030669 ! Abnormal ocular adnexa morphology

[Term]
id: HP:0000503
name: Tortuosity of conjunctival vessels
def: "The presence of an increased number of twists and turns of the conjunctival blood vessels." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1855391
is_a: HP:0008054 ! Abnormal morphology of the conjunctival vasculature

[Term]
id: HP:0000504
name: Abnormality of vision
def: "Abnormality of eyesight (visual perception)." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of sight" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of vision" EXACT layperson []
synonym: "Vision issue" EXACT layperson []
xref: UMLS:C4025846
is_a: HP:0012373 ! Abnormal eye physiology

[Term]
id: HP:0000505
name: Visual impairment
alt_id: HP:0000516
alt_id: HP:0000566
alt_id: HP:0007758
alt_id: HP:0007860
alt_id: HP:0007983
def: "Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery." [https://orcid.org/0000-0001-8727-6592]
subset: hposlim_core
synonym: "Impaired vision" EXACT layperson []
synonym: "Loss of eyesight" EXACT layperson []
synonym: "Poor vision" EXACT layperson []
synonym: "Visual impairment" EXACT layperson []
xref: SNOMEDCT_US:246635007
xref: SNOMEDCT_US:397540003
xref: SNOMEDCT_US:7973008
xref: UMLS:C0042798
xref: UMLS:C3665347
is_a: HP:0000504 ! Abnormality of vision

[Term]
id: HP:0000506
name: Telecanthus
def: "Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi." [https://orcid.org/0000-0002-0736-9199]
comment: Dystopia canthorum (also called telecanthus) describes a subtle but unusual facial feature in which the inner corners of the eyes (canthi) are spaced farther apart than normal, yet the eyes (pupils) themselves are not necessarily widely spaced.
subset: hposlim_core
synonym: "Corners of eye widely separated" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Dystopia canthorum" EXACT []
synonym: "Increased distance between medial canthi" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased intercanthal distance" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:246803005
xref: UMLS:C0423113
is_a: HP:0000492 ! Abnormal eyelid morphology

[Term]
id: HP:0000508
name: Ptosis
def: "The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective)." [PMID:19125427]
subset: hposlim_core
synonym: "Blepharoptosis" EXACT []
synonym: "Drooping upper eyelid" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Eye drop" RELATED layperson []
synonym: "Eyelid ptosis" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Palpebral ptosis" EXACT []
xref: SNOMEDCT_US:11934000
xref: UMLS:C0005745
is_a: HP:0012373 ! Abnormal eye physiology

[Term]
id: HP:0000509
name: Conjunctivitis
def: "Inflammation of the conjunctiva." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Conjunctivitis, recurrent" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Pink eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:9826008
xref: UMLS:C0009763
xref: UMLS:C1864156
is_a: HP:0000502 ! Abnormal conjunctiva morphology
is_a: HP:0025337 ! Red eye
is_a: HP:0100533 ! Inflammatory abnormality of the eye

[Term]
id: HP:0000510
name: Rod-cone dystrophy
alt_id: HP:0000547
alt_id: HP:0001127
alt_id: HP:0007635
alt_id: HP:0007645
alt_id: HP:0007742
alt_id: HP:0007816
alt_id: HP:0007826
alt_id: HP:0007927
alt_id: HP:0008036
def: "An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones." [https://orcid.org/0000-0002-0736-9199, PMID:20212494]
comment: Retinitis pigmentosa is a group of hereditary diseases of the eye. However, the term retinitis pigmentosa has also been used to describe the retinal findings characteristic of these diseases but also seen on other diseases such as Usher syndrome. It is preferable to describe the findings precisely if possible, but this term is kept for convenience.
subset: hposlim_core
synonym: "Retinitis pigmentosa" EXACT []
synonym: "Rod cone dystrophy" EXACT []
xref: SNOMEDCT_US:28835009
xref: UMLS:C0035334
is_a: HP:0000556 ! Retinal dystrophy

[Term]
id: HP:0000511
name: Vertical supranuclear gaze palsy
def: "A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal." [https://orcid.org/0000-0002-0736-9199, PMID:20671861]
comment: Vertical gaze palsies can manifest as selective limitation of upgaze or downgaze.
synonym: "Vertical gaze palsy" EXACT []
synonym: "VSGP" EXACT abbreviation []
xref: SNOMEDCT_US:246773002
xref: UMLS:C0339652
xref: UMLS:C1843369
is_a: HP:0000605 ! Supranuclear gaze palsy

[Term]
id: HP:0000512
name: Abnormal electroretinogram
alt_id: HP:0003285
def: "Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography." [https://orcid.org/0000-0002-0736-9199]
comment: The electrical responses of the photoreceptors (rods and cones), inner retinal cells (bipolar and amacrine cells), and the ganglion cells can be assessed by ERG.
subset: hposlim_core
synonym: "Abnormal electroretinography" EXACT []
synonym: "Abnormal ERG" EXACT []
synonym: "ERG abnormal" EXACT []
xref: SNOMEDCT_US:274524001
xref: UMLS:C0476397
is_a: HP:0030453 ! Abnormal visual electrophysiology

[Term]
id: HP:0000514
name: Slow saccadic eye movements
def: "An abnormally slow velocity of the saccadic eye movements." [https://orcid.org/0000-0002-0736-9199]
comment: Saccades are rapid eye movements that align the fovea with the target.
subset: hposlim_core
synonym: "Slow eye movements" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Slow saccades" EXACT []
synonym: "Slow visual tracking" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:404686001
xref: UMLS:C1321329
is_a: HP:0000570 ! Abnormal saccadic eye movements

[Term]
id: HP:0000517
name: Abnormal lens morphology
def: "An abnormality of the lens." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the lens" EXACT layperson []
synonym: "Lens disease" RELATED layperson []
synonym: "Lens issue" EXACT layperson []
xref: SNOMEDCT_US:10810001
xref: UMLS:C0023308
xref: UMLS:C0549651
is_a: HP:0004328 ! Abnormal anterior eye segment morphology

[Term]
id: HP:0000518
name: Cataract
alt_id: HP:0001113
alt_id: HP:0007825
alt_id: HP:0010700
def: "A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule." [https://orcid.org/0000-0002-0736-9199]
comment: Note that some ophthalmologists call any opacity in the lens a cataract, while others restrict the term to lens opacities that impair vision. We use the term to refer to the first meaning (any lens opacity).
subset: hposlim_core
synonym: "Cataracts" EXACT []
synonym: "Clouding of the lens of the eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Cloudy lens" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Lens opacities" EXACT []
synonym: "Lens opacity" EXACT []
xref: Fyler:4865
xref: SNOMEDCT_US:128306009
xref: SNOMEDCT_US:193570009
xref: SNOMEDCT_US:247053007
xref: UMLS:C0086543
xref: UMLS:C1510497
is_a: HP:0000517 ! Abnormal lens morphology

[Term]
id: HP:0000519
name: Developmental cataract
alt_id: HP:0001108
alt_id: HP:0007679
alt_id: HP:0007692
alt_id: HP:0007726
alt_id: HP:0007788
def: "A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens." [https://orcid.org/0000-0002-0736-9199]
comment: In general, congenital cataracts are bilateral and that is the assumption with the terms in this cataract subhierarchy.
subset: hposlim_core
synonym: "Bilateral congenital cataracts" EXACT []
synonym: "Cataract, congenital" EXACT []
synonym: "Clouding of the lens of the eye at birth" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Congenital cataract" EXACT []
synonym: "Congenital cataracts" EXACT []
synonym: "Congenital cataracts, bilateral" EXACT []
xref: SNOMEDCT_US:609587005
xref: SNOMEDCT_US:79410001
xref: UMLS:C0009691
xref: UMLS:C3277059
is_a: HP:0000518 ! Cataract
is_a: HP:0007700 ! Ocular anterior segment dysgenesis

[Term]
id: HP:0000520
name: Proptosis
alt_id: HP:0000536
alt_id: HP:0000644
alt_id: HP:0000645
alt_id: HP:0007711
alt_id: HP:0007870
def: "An eye that is protruding anterior to the plane of the face to a greater extent than is typical." [https://orcid.org/0009-0006-4530-3154, PMID:19125427]
comment: Some sources define "exophthalmos" as a protrusion of the globe greater than 18 mm and "proptosis" as a protusion equal to or less than 18 mm. Others define "exophthalmos" as protusion secondary to endocrine dysfunction and "proptosis" as any non-endocrine-mediated protusion (Source: Wikipedia). This finding should be distinguished frm underdevelopment of the supraorbital ridge or maxilla/zygoma. In proptosis, the globe is anteriorly protuberant to the overall plane of the face.
subset: hposlim_core
synonym: "Anterior bulging of the globe" EXACT []
synonym: "Anterior bulging of the globe of eye" EXACT []
synonym: "Bulging eye" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Exophthalmos" EXACT []
synonym: "Eyeballs bulging out" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Ocular proptosis" EXACT []
synonym: "Prominent eyes" EXACT layperson []
synonym: "Prominent globes" EXACT layperson []
synonym: "Protruding eyes" EXACT layperson []
synonym: "Protrusio bulbi" EXACT []
xref: SNOMEDCT_US:18265008
xref: UMLS:C0015300
xref: UMLS:C1837760
xref: UMLS:C1848490
xref: UMLS:C1862425
is_a: HP:0100886 ! Abnormality of globe location

[Term]
id: HP:0000522
name: Alacrima
def: "Absence of tear secretion." [https://orcid.org/0000-0002-0736-9199]
comment: Alacrima is generally a congenital deficiency.
subset: hposlim_core
synonym: "Absence of tears in the eyes" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Absent lacrimal fluids" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Absent tear secretion" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:253215004
xref: UMLS:C0344505
is_a: HP:0000633 ! Decreased lacrimation

[Term]
id: HP:0000523
name: Subcapsular cataract
alt_id: HP:0001490
alt_id: HP:0007978
def: "A cataract that affects the region of the lens directly beneath the capsule of the lens." [https://orcid.org/0000-0002-0736-9199]
synonym: "Subcapsular cataracts" EXACT []
synonym: "Subcapsular lenticular cataracts" EXACT []
synonym: "Subcapsular opacities" EXACT []
xref: SNOMEDCT_US:95723009
xref: UMLS:C0235259
is_a: HP:0000518 ! Cataract

[Term]
id: HP:0000524
name: Conjunctival telangiectasia
def: "The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Conjunctival telangiectases" EXACT []
synonym: "Small dilated blood vessels near membrane covering front of eye and eyelids" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Telangiectasia, conjunctival" EXACT []
xref: SNOMEDCT_US:231870008
xref: UMLS:C0239105
is_a: HP:0008054 ! Abnormal morphology of the conjunctival vasculature
is_a: HP:0100579 ! Mucosal telangiectasiae

[Term]
id: HP:0000525
name: Abnormality iris morphology
def: "An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the iris" EXACT layperson []
xref: UMLS:C4025845
is_a: HP:0000553 ! Abnormal uvea morphology
is_a: HP:0004328 ! Abnormal anterior eye segment morphology

[Term]
id: HP:0000526
name: Aniridia
alt_id: HP:0011498
def: "Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123, PMID:24138039, PMID:25313118, PMID:29850208]
subset: hposlim_core
synonym: "Absent iris" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:69278003
xref: UMLS:C0003076
is_a: HP:0008053 ! Aplasia/Hypoplasia of the iris

[Term]
id: HP:0000527
name: Long eyelashes
alt_id: HP:0000500
def: "Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective)." [PMID:19125427, PMID:26288407]
comment: Measurement should be done on the longest lashes, which are usually at the center of the lid. Normal values are 7.99 - 1.05 mm in boys and 7.76 - 1.03 mm in girls. Note that Eyelash trichomegaly is defined as increase in length (12 mm or more), curling, pigmentation or thickness of eyelashes.
subset: hposlim_core
synonym: "Ciliary trichomegaly" EXACT []
synonym: "Eyelash trichomegaly" EXACT []
synonym: "Increased length of eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Long eyelashes" EXACT layperson []
synonym: "Unusually long eyelashes" EXACT layperson []
xref: UMLS:C1853738
is_a: HP:0000499 ! Abnormal eyelash morphology

[Term]
id: HP:0000528
name: Anophthalmia
alt_id: HP:0001485
alt_id: HP:0007664
def: "Absence of the globe or eyeball." [HPO_CONTRIBUTOR:DDD_ncarter]
subset: hposlim_core
synonym: "Absence of eyeballs" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Absence of globes of eyes" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Anophthalmia, clinical" EXACT []
synonym: "Clinical anophthalmia, unilateral/bilateral" EXACT []
synonym: "Failure of development of eyeball" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing eyeball" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Missing globe of eye" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "No eyeball" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "No globe of eye" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Ocular absence" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
xref: Fyler:4864
xref: SNOMEDCT_US:204099004
xref: SNOMEDCT_US:7183006
xref: UMLS:C0003119
is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye
is_a: HP:0100887 ! Abnormality of globe size

[Term]
id: HP:0000529
name: Progressive visual loss
alt_id: HP:0000560
alt_id: HP:0007735
alt_id: HP:0007753
alt_id: HP:0007967
def: "A reduction of previously attained ability to see." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Decreased visual acuity, progressive" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Loss of visual acuity" EXACT []
synonym: "Progressive loss of vision" EXACT layperson []
synonym: "Progressive vision loss" EXACT layperson []
synonym: "Progressive visual acuity loss" EXACT []
synonym: "Progressive visual impairment" EXACT layperson []
synonym: "Slowly progressive visual loss" EXACT layperson []
synonym: "Vision loss, progressive" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Visual loss, progressive" EXACT layperson []
xref: UMLS:C1839364
xref: UMLS:C3277697
is_a: HP:0000572 ! Visual loss

[Term]
id: HP:0000531
name: Corneal crystals
synonym: "Corneal deposits" EXACT []
xref: UMLS:C1096610
is_a: HP:0007759 ! Opacification of the corneal stroma

[Term]
id: HP:0000532
name: Abnormal chorioretinal morphology
alt_id: HP:0001145
alt_id: HP:0007888
def: "An abnormality of the choroid and retina." [https://orcid.org/0000-0002-0736-9199]
comment: The choroid is the vascular layer of the eye, located between the retina and the sclera.
synonym: "Chorioretinal abnormality" EXACT []
xref: UMLS:C4025844
is_a: HP:0000479 ! Abnormal retinal morphology
is_a: HP:0000610 ! Abnormal choroid morphology

[Term]
id: HP:0000533
name: Chorioretinal atrophy
alt_id: HP:0001150
alt_id: HP:0007884
alt_id: HP:0007918
alt_id: HP:0007931
def: "Atrophy of the choroid and retinal layers of the fundus." [https://orcid.org/0000-0002-0736-9199, PMID:20224472]
comment: Choroidal sclerosis is a descriptive term applied to the ophthalmoscopic appearance of prominent white choroidal vessels in which the blood columns are not seen or are sheathed by white lines. Choroidal sclerosis is a term used to describe a group of genetically heterogeneous retinal dystrophies that share a common funduscopic phenotype of scalloped, well-circumscribed, and confluent chorioretinal atrophic lesions that extend beyond the macula. The term choroidal sclerosis was initially coined because of the sclerotic appearance of choroidal vessels which frequently appear white or light-yellow. However, histologic studies have demonstrated the term to be a misnomer as the principle abnormality is the loss of choriocapillaris, retinal pigment epithelium (RPE), and the outer retina in the absence of abnormal sclerotic changes in the choroidal vasculature. Therefore, we are making choroidal sclerosis a synonym of chorioretinal atrophy.
synonym: "Chorioretinal thinning" EXACT []
xref: SNOMEDCT_US:95686007
xref: UMLS:C4048273
is_a: HP:0200065 ! Chorioretinal degeneration

[Term]
id: HP:0000534
name: Abnormal eyebrow morphology
def: "An abnormality of the eyebrow." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the eyebrow" EXACT layperson []
xref: UMLS:C4011556
is_a: HP:0001595 ! Abnormal hair morphology
is_a: HP:0030669 ! Abnormal ocular adnexa morphology

[Term]
id: HP:0000535
name: obsolete Sparse and thin eyebrow
is_obsolete: true
replaced_by: HP:0045074
replaced_by: HP:0045075

[Term]
id: HP:0000537
name: Epicanthus inversus
def: "A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus." [PMID:19125427]
subset: hposlim_core
xref: SNOMEDCT_US:400956000
xref: UMLS:C1303003
is_a: HP:0000286 ! Epicanthus

[Term]
id: HP:0000538
name: Pseudopapilledema
def: "Apparent optic disc swelling in the absence of increased intracranial pressure." [https://orcid.org/0000-0002-0736-9199]
comment: Papilledema is disk edema secondary to increased intracranial pressure.
subset: hposlim_core
xref: SNOMEDCT_US:57138009
xref: UMLS:C0155300
is_a: HP:0012795 ! Abnormal optic disc morphology

[Term]
id: HP:0000539
name: Abnormality of refraction
def: "An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025843
is_a: HP:0012373 ! Abnormal eye physiology

[Term]
id: HP:0000540
name: Hypermetropia
def: "An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry." [https://orcid.org/0000-0002-0736-9199]
comment: The American Optometric Association subdivides hypermetropia into (i) low (up to +2D), moderate (2 to 5D), and high (over 5D).
subset: hposlim_core
synonym: "Farsightedness" EXACT layperson []
synonym: "Hyperopia" EXACT []
synonym: "Long-sightedness" EXACT layperson []
xref: SNOMEDCT_US:38101003
xref: UMLS:C0020490
is_a: HP:0000539 ! Abnormality of refraction

[Term]
id: HP:0000541
name: Retinal detachment
alt_id: HP:0007864
alt_id: HP:0008021
def: "Separation of the inner layers of the retina (neural retina) from the pigment epithelium." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Detached retina" EXACT layperson []
synonym: "Retinal detachment" EXACT layperson []
xref: SNOMEDCT_US:42059000
xref: UMLS:C0035305
is_a: HP:0000479 ! Abnormal retinal morphology

[Term]
id: HP:0000542
name: Impaired ocular adduction
def: "Reduced ability to move the eye in the direction of the nose." [https://orcid.org/0000-0002-0736-9199]
comment: Contraction of the medial rectus pulls the eye towards the nose (adduction or medial movement).
xref: UMLS:C1846463
is_a: HP:0000496 ! Abnormality of eye movement

[Term]
id: HP:0000543
name: Optic disc pallor
alt_id: HP:0001148
alt_id: HP:0001484
def: "A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression." [https://orcid.org/0000-0002-0736-9199]
comment: Optic disc pallor can be judged clinically with serial color photographs or by comparison to the other eye. The pallor reflects replacement of dead axons by glial tissue. The loss of the small capillaries within the nerve accounts for the shift from orange-pink to white.
subset: hposlim_core
synonym: "Disc pallor" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Pale optic disc" EXACT []
synonym: "Pale optic discs" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:302200001
xref: UMLS:C0554970
is_a: HP:0012795 ! Abnormal optic disc morphology

[Term]
id: HP:0000544
name: External ophthalmoplegia
alt_id: HP:0007762
def: "Paralysis of the external ocular muscles." [https://orcid.org/0000-0002-0736-9199]
synonym: "Chronic progressive external ophthalmoplegia" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "CPEO" EXACT abbreviation [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463, https://orcid.org/0000-0002-5316-1399]
synonym: "Ophthalmoplegia externa" EXACT []
synonym: "Paralysis or weakness of muscles within or surrounding outer part of eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Progressive paralysis or weakness of muscles of eye motility" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Progressive paralysis or weakness of muscles of eye movement" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:19373007
xref: SNOMEDCT_US:46252003
xref: UMLS:C0162292
xref: UMLS:C0162674
is_a: HP:0000602 ! Ophthalmoplegia

[Term]
id: HP:0000545
name: Myopia
alt_id: HP:0001110
alt_id: HP:0007847
alt_id: HP:0008012
def: "An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Close sighted" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Near sighted" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Near sightedness" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Nearsightedness" EXACT layperson []
xref: SNOMEDCT_US:57190000
xref: UMLS:C0027092
is_a: HP:0000539 ! Abnormality of refraction

[Term]
id: HP:0000546
name: Retinal degeneration
alt_id: HP:0007632
alt_id: HP:0007790
alt_id: HP:0007863
alt_id: HP:0007893
def: "A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123]
subset: hposlim_core
synonym: "Retina degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:95695004
xref: UMLS:C0035304
is_a: HP:0000479 ! Abnormal retinal morphology

[Term]
id: HP:0000547
name: obsolete Tapetoretinal degeneration
synonym: "Retinotapetal degeneration" EXACT []
is_obsolete: true
replaced_by: HP:0000510

[Term]
id: HP:0000548
name: Cone/cone-rod dystrophy
alt_id: HP:0008157
synonym: "Cone rod dystrophy" EXACT []
synonym: "Cone-rod retinal dystrophy" EXACT []
is_a: HP:0000556 ! Retinal dystrophy

[Term]
id: HP:0000549
name: Abnormal conjugate eye movement
def: "Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object." [https://orcid.org/0000-0002-0736-9199]
synonym: "Disconjugate eye movements" EXACT []
xref: UMLS:C1845274
is_a: HP:0000496 ! Abnormality of eye movement

[Term]
id: HP:0000550
name: Undetectable electroretinogram
alt_id: HP:0008042
def: "Lack of any response to stimulation upon electroretinography." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abolished electroretinogram" EXACT []
synonym: "Absent electroretinogram" EXACT []
synonym: "Extinction of electroretinogram" EXACT []
synonym: "Extinguished electroretinogram" EXACT []
synonym: "No light-evoked response on electroretinogram" EXACT []
synonym: "Undetectable ERG" EXACT []
xref: UMLS:C1855685
is_a: HP:0000512 ! Abnormal electroretinogram

[Term]
id: HP:0000551
name: Color vision defect
def: "An anomaly in the ability to discriminate between or recognize colors." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal color vision" EXACT layperson []
synonym: "Abnormal colour vision" EXACT uk_spelling []
synonym: "Abnormality of color vision" EXACT layperson []
synonym: "Abnormality of colour vision" EXACT uk_spelling []
synonym: "Color vision defect, severe" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Color vision defects" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Colour vision defect" EXACT uk_spelling []
synonym: "Colour vision defect, severe" RELATED uk_spelling []
synonym: "Colour vision defects" RELATED uk_spelling []
synonym: "Disturbed color vision" EXACT []
synonym: "Disturbed colour vision" EXACT uk_spelling []
synonym: "Loss in color vision" RELATED []
synonym: "Loss in colour vision" RELATED uk_spelling []
xref: SNOMEDCT_US:23289000
xref: SNOMEDCT_US:367469000
xref: UMLS:C0009398
xref: UMLS:C0234629
xref: UMLS:C3552853
is_a: HP:0000504 ! Abnormality of vision

[Term]
id: HP:0000552
name: Tritanomaly
def: "Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment." [https://orcid.org/0000-0002-0736-9199]
synonym: "Blue yellow color blindness" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Blue yellow colour blindness" EXACT uk_spelling []
synonym: "Blue-yellow dyschromatopsia" EXACT []
synonym: "Blue/yellow color vision defect" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Blue/yellow colour vision defect" RELATED uk_spelling []
synonym: "Dyschromatopsia, blue-yellow" EXACT []
xref: SNOMEDCT_US:51886007
xref: SNOMEDCT_US:85049009
xref: UMLS:C0155017
xref: UMLS:C1970167
is_a: HP:0011519 ! Anomalous trichromacy

[Term]
id: HP:0000553
name: Abnormal uvea morphology
def: "An abnormality of the uvea, the vascular layer of the eyeball." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the uvea" EXACT []
xref: UMLS:C4025842
is_a: HP:0012372 ! Abnormal eye morphology

[Term]
id: HP:0000554
name: Uveitis
def: "Inflammation of one or all portions of the uveal tract." [https://orcid.org/0000-0002-0736-9199]
comment: The uvea is the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid.
subset: hposlim_core
xref: SNOMEDCT_US:128473001
xref: UMLS:C0042164
is_a: HP:0000553 ! Abnormal uvea morphology
is_a: HP:0100533 ! Inflammatory abnormality of the eye

[Term]
id: HP:0000555
name: Leukocoria
def: "An abnormal white reflection from the pupil rather than the usual black reflection." [https://orcid.org/0000-0002-0736-9199]
comment: The word leukocoria literally means white pupil, but leukocoria is not an abnormality of the pupil. Rather, leukocoria can be caused by cataract, retinal detachment, retinopathy of prematurity, retinal malformation, endophthalmitis, retinal vascular abnormality, and intraocular tumor (e.g., retinoblastoma).
synonym: "Leukokoria" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "White pupillary reflex" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:1361009
xref: UMLS:C0152458
is_a: HP:0000615 ! Abnormal pupil morphology

[Term]
id: HP:0000556
name: Retinal dystrophy
alt_id: HP:0007736
alt_id: HP:0007910
alt_id: HP:0007974
alt_id: HP:0007982
def: "Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event." [https://orcid.org/0000-0003-0986-4123]
synonym: "Breakdown of light-sensitive cells in back of eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:314407005
xref: UMLS:C0854723
is_a: HP:0000479 ! Abnormal retinal morphology

[Term]
id: HP:0000557
name: Buphthalmos
def: "Diffusely large eye (with megalocornea) associated with glaucoma." []
comment: Buphthalmos refers to a congenital open-angle glaucoma of the eye. The term buphthalmos (from Greek 'bous' or ox and 'ophthalmos' or eye) is descriptive of an enlarged eyeglobe resulting from increased intraocular pressure. The eyeglobe is especially prone to distension in newborns and infants because its collagen filaments are not as rigid as in adults and may easily be stretched.
subset: hposlim_core
synonym: "Enlarged eyeball" EXACT layperson [https://en.wikipedia.org/wiki/buphthalmos, https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4551507
is_a: HP:0001087 ! Developmental glaucoma
is_a: HP:0001090 ! Abnormally large globe

[Term]
id: HP:0000558
name: Rieger anomaly
def: "A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities." [https://orcid.org/0000-0002-0736-9199]
comment: Hypoplasia (underdevelopment) of the iris as well as iris strands to the peripheral cornea.
xref: SNOMEDCT_US:47507006
xref: UMLS:C0265341
is_a: HP:0007676 ! Hypoplasia of the iris

[Term]
id: HP:0000559
name: Corneal scarring
xref: SNOMEDCT_US:95726001
xref: UMLS:C0349702
is_a: HP:0007957 ! Corneal opacity
is_a: HP:0100699 ! Scarring

[Term]
id: HP:0000561
name: Absent eyelashes
alt_id: HP:0002288
alt_id: HP:0004516
alt_id: HP:0004539
alt_id: HP:0007926
def: "Lack of eyelashes." [https://orcid.org/0000-0002-0736-9199, PMID:19125427]
comment: Often this finding is congenital and associated with alopecia universalis, but this should be coded separately.
subset: hposlim_core
synonym: "Absent eyelashes" EXACT layperson []
synonym: "Agenesis of eyelashes" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Aplasia of eyelashes" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Atrichia of eyelashes" EXACT []
synonym: "Failure of development of eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1843005
xref: UMLS:C4280626
xref: UMLS:C4280627
is_a: HP:0002550 ! Absent facial hair
is_a: HP:0200102 ! Sparse or absent eyelashes

[Term]
id: HP:0000563
name: Keratoconus
def: "A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex." [https://orcid.org/0000-0002-0736-9199, PMID:7767020]
comment: Keratoconus is an entity characterid by several phenotypic findings such as corneal distortion (secondary to thinning of the apex) and either Fleischer's ring or Vogt's striae. This HPO term intends to denote the finding of corneal distortion and bulge.
subset: hposlim_core
synonym: "Bulging cornea" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Conical cornea" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:65636009
xref: UMLS:C0022578
is_a: HP:0100689 ! Decreased corneal thickness
is_a: HP:0100692 ! Increased corneal curvature

[Term]
id: HP:0000564
name: Lacrimal duct atresia
alt_id: HP:0007729
def: "A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct." [https://orcid.org/0000-0002-0736-9199]
synonym: "Imperforate nasolacrimal ducts" EXACT []
synonym: "Nasolacrimal duct atresia" EXACT []
synonym: "Unopened tear duct" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:278530008
xref: UMLS:C0344511
is_a: HP:0011481 ! Abnormal lacrimal duct morphology

[Term]
id: HP:0000565
name: Esotropia
def: "A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more." [https://orcid.org/0000-0002-0736-9199]
comment: Esotropia is analogous to but more severe than esophoria. Affected children are more likely to have amblyopia or require corrective eye muscle surgery than children with esophoria.
subset: hposlim_core
synonym: "Inward turning cross eyed" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:16596007
xref: UMLS:C0014877
is_a: HP:0020045 ! Esodeviation
is_a: HP:0032012 ! Heterotropia

[Term]
id: HP:0000567
name: Chorioretinal coloboma
alt_id: HP:0000611
alt_id: HP:0007718
alt_id: HP:0007784
alt_id: HP:0007956
def: "Absence of a region of the retina, retinal pigment epithelium, and choroid." [https://orcid.org/0000-0002-0736-9199]
synonym: "Birth defect that causes a hole in the innermost layer at the back of the eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Choroid coloboma" RELATED []
synonym: "Choroidal coloboma" RELATED []
synonym: "Choroidoretinal coloboma" EXACT []
synonym: "Coloboma of choroid" RELATED []
xref: SNOMEDCT_US:39302008
xref: UMLS:C0240896
is_a: HP:0000532 ! Abnormal chorioretinal morphology
is_a: HP:0000589 ! Coloboma

[Term]
id: HP:0000568
name: Microphthalmia
alt_id: HP:0007996
def: "A developmental anomaly characterized by abnormal smallness of one or both eyes." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormally small eyeball" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormally small globe of eye" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of eyeball" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of globe of eye" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Microphthalmos" EXACT []
synonym: "Nanophthalmos" RELATED []
xref: Fyler:4877
xref: SNOMEDCT_US:204108000
xref: SNOMEDCT_US:61142002
xref: UMLS:C0026010
xref: UMLS:C4280625
xref: UMLS:C4280808
is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye
is_a: HP:0100887 ! Abnormality of globe size

[Term]
id: HP:0000570
name: Abnormal saccadic eye movements
alt_id: HP:0000604
def: "An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements." [https://orcid.org/0000-0002-0736-9199]
comment: Fast (saccadic) eye movements comprise voluntary or involuntary refixation movements, the fast phase of vestibular nystagmus, optokinetic nystagmus, and microsaccades.
synonym: "Abnormality of saccadic eye movements" EXACT []
synonym: "Impaired saccades" RELATED []
xref: UMLS:C1842584
xref: UMLS:C4025841
is_a: HP:0000496 ! Abnormality of eye movement

[Term]
id: HP:0000571
name: Hypometric saccades
def: "Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object." [https://orcid.org/0000-0002-0736-9199, PMID:572501]
xref: SNOMEDCT_US:246768008
xref: UMLS:C0423082
is_a: HP:0000570 ! Abnormal saccadic eye movements

[Term]
id: HP:0000572
name: Visual loss
def: "Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that)." [https://orcid.org/0009-0006-4530-3154]
synonym: "Loss of vision" EXACT layperson []
synonym: "Vision loss" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Visual loss" EXACT layperson []
xref: SNOMEDCT_US:7973008
xref: UMLS:C3665386
is_a: HP:0000505 ! Visual impairment

[Term]
id: HP:0000573
name: Retinal hemorrhage
def: "Hemorrhage occurring within the retina." [HPO_CONTRIBUTOR:gcarletti]
comment: The type of retinal hemorrhage and its clinical appearance depends on its location within the retina.
subset: hposlim_core
synonym: "Retinal bleeding" EXACT layperson []
synonym: "Retinal haemorrhage" EXACT uk_spelling []
synonym: "Retinal haemorrhages" EXACT uk_spelling []
synonym: "Retinal hemorrhages" EXACT plural_form [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:28998008
xref: UMLS:C0035317
is_a: HP:0000479 ! Abnormal retinal morphology
is_a: HP:0011885 ! Hemorrhage of the eye
is_a: HP:0031803 ! Fundus hemorrhage

[Term]
id: HP:0000574
name: Thick eyebrow
alt_id: HP:0004546
def: "Increased density/number and/or increased diameter of eyebrow hairs." [PMID:19125427]
comment: Thickness can be regional (medial, middle/central, lateral) or total.
subset: hposlim_core
synonym: "Bushy eyebrows" EXACT layperson []
synonym: "Dense eyebrow" EXACT layperson []
synonym: "Heavy eyebrows" EXACT layperson []
synonym: "Hypertrichosis of the eyebrow" EXACT []
synonym: "Hypertrichosis of the eyebrows" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Prominent eyebrows" EXACT layperson []
synonym: "Thick eyebrow" EXACT layperson []
synonym: "Thick eyebrows" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1853487
is_a: HP:0000534 ! Abnormal eyebrow morphology

[Term]
id: HP:0000575
name: Scotoma
def: "A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Blind spot" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:23388006
xref: SNOMEDCT_US:81016008
xref: UMLS:C0036454
xref: UMLS:C0344233
is_a: HP:0001123 ! Visual field defect

[Term]
id: HP:0000576
name: Centrocecal scotoma
def: "A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:33014001
xref: UMLS:C0271196
is_a: HP:0000575 ! Scotoma

[Term]
id: HP:0000577
name: Exotropia
alt_id: HP:0008033
def: "A form of strabismus with one or both eyes deviated outward." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Outward facing eye ball" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:399054005
xref: SNOMEDCT_US:399252000
xref: UMLS:C0015310
is_a: HP:0020049 ! Exodeviation
is_a: HP:0032012 ! Heterotropia

[Term]
id: HP:0000579
name: Nasolacrimal duct obstruction
def: "Blockage of the lacrimal duct." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Blocked tear duct" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Lacrimal duct obstruction" EXACT []
xref: SNOMEDCT_US:231841004
xref: SNOMEDCT_US:246865000
xref: SNOMEDCT_US:314022009
xref: SNOMEDCT_US:416920000
xref: UMLS:C0022906
xref: UMLS:C1281931
is_a: HP:0011481 ! Abnormal lacrimal duct morphology

[Term]
id: HP:0000580
name: Pigmentary retinopathy
alt_id: HP:0001146
alt_id: HP:0007702
alt_id: HP:0007821
alt_id: HP:0007852
alt_id: HP:0007869
alt_id: HP:0007934
alt_id: HP:0007961
alt_id: HP:0008010
def: "An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss." [https://orcid.org/0000-0003-0986-4123]
synonym: "Pigmentary retinal deposits" EXACT []
synonym: "Retinal pigment clumping" EXACT []
synonym: "Retinal pigmentary clumping" EXACT []
synonym: "Retinal pigmentary degeneration" EXACT []
xref: SNOMEDCT_US:28835009
xref: UMLS:C0035334
is_a: HP:0007703 ! Abnormality of retinal pigmentation

[Term]
id: HP:0000581
name: Blepharophimosis
alt_id: HP:0000507
alt_id: HP:0000513
def: "A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures." [PMID:19125427]
comment: When the palpebral fissures are severely shortened, they cannot be widely separated, actively or passively. Blepharophimosis is an acknowledged bundled term (short vertical and horizontal distance). When palpebral fissures are severely shortened, they cannot be widely separated, actively or passively. Ptosis is the term to be used when the reduction in eyelid opening is not fixed but can be increased actively or passively. Blepharophimosis is often associated with Epicanthus inversus.
subset: hposlim_core
synonym: "Decreased width of palpebral fissure" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Narrow opening between the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C0005744
is_a: HP:0200007 ! Abnormal size of the palpebral fissures

[Term]
id: HP:0000582
name: Upslanted palpebral fissure
def: "The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age." [PMID:19125427]
subset: hposlim_core
synonym: "Mongoloid slant" EXACT []
synonym: "Upslanted palpebral fissures" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Upslanting palpebral fissures" EXACT []
synonym: "Upward slanted palpebral fissures" EXACT []
synonym: "Upward slanting of palpebral fissures" EXACT []
synonym: "Upward slanting of the opening between the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Upward slanting palpebral fissures" EXACT []
xref: SNOMEDCT_US:246799009
xref: UMLS:C0423109
is_a: HP:0200006 ! Slanting of the palpebral fissure

[Term]
id: HP:0000584
name: Punctate corneal epithelial erosions
xref: UMLS:C1832170
is_a: HP:0200020 ! Corneal erosion

[Term]
id: HP:0000585
name: Band keratopathy
def: "An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Calcific band keratopathy" EXACT []
xref: SNOMEDCT_US:35055000
xref: UMLS:C0155120
is_a: HP:0011493 ! Central opacification of the cornea

[Term]
id: HP:0000586
name: Shallow orbits
alt_id: HP:0002706
def: "Reduced depth of the orbits associated with prominent-appearing ocular globes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased depth of eye sockets" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased depth of orbits" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Shallow eye sockets" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Small shallow orbits" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1865244
is_a: HP:0000520 ! Proptosis
is_a: HP:3000030 ! Abnormal morphology of bony orbit of skull

[Term]
id: HP:0000587
name: Abnormal optic nerve morphology
def: "Abnormality of the optic nerve." [https://orcid.org/0000-0002-0736-9199]
comment: The optic nerve, which is also known as cranial nerve II, transmits visual information from the retina to the brain. The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination.
subset: hposlim_core
synonym: "Abnormality of the optic nerve" EXACT []
synonym: "optic nerve abnormalities" EXACT []
synonym: "Optic nerve issue" EXACT layperson []
xref: UMLS:C0029131
is_a: HP:0001098 ! Abnormal fundus morphology

[Term]
id: HP:0000588
name: Optic disc coloboma
alt_id: HP:0007997
def: "A cleft of the optic nerve that extends inferiorly." [https://orcid.org/0000-0002-0736-9199, PMID:16219745]
comment: A congenital, unilateral or bilateral congenital condition caused by incomplete closure of the embryonic fissure.
subset: hposlim_core
synonym: "Coloboma of optic nerve" EXACT []
synonym: "Optic disc coloboma" EXACT []
synonym: "Optic nerve coloboma" EXACT []
xref: SNOMEDCT_US:17541006
xref: SNOMEDCT_US:44295002
xref: UMLS:C0155299
is_a: HP:0000589 ! Coloboma
is_a: HP:0012795 ! Abnormal optic disc morphology

[Term]
id: HP:0000589
name: Coloboma
alt_id: HP:0007767
alt_id: HP:0007995
def: "A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa." [https://orcid.org/0000-0002-0736-9199]
synonym: "Notched pupil" EXACT layperson []
synonym: "Ocular coloboma" EXACT []
synonym: "Ocular colobomas" EXACT []
xref: Fyler:4311
xref: SNOMEDCT_US:92828000
xref: SNOMEDCT_US:93390002
xref: UMLS:C0009363
is_a: HP:0012372 ! Abnormal eye morphology

[Term]
id: HP:0000590
name: Progressive external ophthalmoplegia
alt_id: HP:0000562
def: "Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades." [https://orcid.org/0000-0002-0736-9199]
comment: Progressive external ophthalmoplegia (PEO) can be regarded as a diagnosis, or as a feature of several other syndromes. The latter is the meaning of this term.
synonym: "External ophthalmoplegia, progressive" EXACT []
xref: SNOMEDCT_US:46252003
xref: UMLS:C0162674
is_a: HP:0000544 ! External ophthalmoplegia

[Term]
id: HP:0000591
name: Abnormal sclera morphology
def: "An abnormality of the sclera." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the outer white part of eyeball" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the sclera" EXACT []
xref: UMLS:C4025840
is_a: HP:0012372 ! Abnormal eye morphology

[Term]
id: HP:0000592
name: Blue sclerae
def: "An abnormal bluish coloration of the sclera." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Blue outer white part of eyeball" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Blue sclera" EXACT []
synonym: "Bluish sclerae" EXACT []
synonym: "Gray sclerae" EXACT []
synonym: "Grey sclerae" EXACT uk_spelling []
synonym: "Whites of eyes are a bluish-gray color" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Whites of eyes are a bluish-gray colour" EXACT uk_spelling []
xref: SNOMEDCT_US:204164000
xref: UMLS:C0542514
is_a: HP:0000591 ! Abnormal sclera morphology

[Term]
id: HP:0000593
name: Abnormal anterior chamber morphology
def: "Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the anterior chamber" EXACT []
synonym: "Anterior chamber anomalies" EXACT []
synonym: "Ocular anterior chamber abnormality" EXACT []
xref: SNOMEDCT_US:204142009
xref: UMLS:C3152182
is_a: HP:0004328 ! Abnormal anterior eye segment morphology

[Term]
id: HP:0000594
name: Shallow anterior chamber
alt_id: HP:0007756
def: "Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:246986004
xref: UMLS:C0423276
is_a: HP:0000593 ! Abnormal anterior chamber morphology

[Term]
id: HP:0000597
name: Ophthalmoparesis
alt_id: HP:0007701
alt_id: HP:0008044
def: "Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement." [https://orcid.org/0000-0002-0736-9199]
synonym: "Extraocular muscle palsy" EXACT []
synonym: "Extraocular muscle paralysis" EXACT []
synonym: "Weakness of extraocular eye movement" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Weakness of muscles controlling eye movement" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C0751401
is_a: HP:0000496 ! Abnormality of eye movement

[Term]
id: HP:0000598
name: Abnormality of the ear
def: "An abnormality of the ear." [https://orcid.org/0000-0002-0736-9199]
comment: Either a morphological abnormality or hearing deficit. This should be split more cleanly in the future.
subset: hposlim_core
synonym: "Abnormality of the ear" EXACT layperson []
synonym: "Ear anomaly" EXACT []
xref: SNOMEDCT_US:275259005
xref: UMLS:C0266589
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0000599
name: Abnormality of the frontal hairline
def: "An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of hairline at front of head" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the frontal hairline" EXACT layperson []
xref: UMLS:C4025839
is_a: HP:0000290 ! Abnormal forehead morphology
is_a: HP:0009553 ! Abnormality of the hairline
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-27T05:34:00Z

[Term]
id: HP:0000600
name: Abnormality of the pharynx
def: "An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly." [https://orcid.org/0000-0002-0736-9199]
comment: The pharynx is tubular structure extending from base of skull superiorly to esophageal inlet inferiorly, and is composed of three distinct areas: the nasopharynx, the oropharynx, and the hypopharynx, with the pharyngeal walls being composed of the superior, middle, and inferior pharyngeal constrictor muscles. It is part of the digestive system and of the conducting zone of the respiratory system.
xref: UMLS:C4025838
is_a: HP:0002087 ! Abnormality of the upper respiratory tract

[Term]
id: HP:0000601
name: Hypotelorism
alt_id: HP:0007877
def: "Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes)." [https://orcid.org/0000-0002-0736-9199, PMID:19125427]
subset: hposlim_core
synonym: "Abnormally close eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Closely spaced eyes" EXACT layperson []
synonym: "Decreased distance between eye sockets" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased distance between eyes" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased interpupillary distance" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased orbital separation" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Ocular hypotelorism" EXACT []
xref: SNOMEDCT_US:44593008
xref: UMLS:C0424711
is_a: HP:0100886 ! Abnormality of globe location

[Term]
id: HP:0000602
name: Ophthalmoplegia
def: "Paralysis of one or more extraocular muscles that are responsible for eye movements." [https://orcid.org/0000-0002-0736-9199]
synonym: "Eye muscle paralysis" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Paralysis of extraocular eye movement" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:16110005
xref: UMLS:C0029089
is_a: HP:0000597 ! Ophthalmoparesis

[Term]
id: HP:0000603
name: Central scotoma
def: "An area of depressed vision located at the point of fixation and that interferes with central vision." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Blind spot located at fixation point" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Central blind spot" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Central scotomata" EXACT []
xref: SNOMEDCT_US:38950008
xref: UMLS:C0152191
xref: UMLS:C4280624
is_a: HP:0000575 ! Scotoma

[Term]
id: HP:0000605
name: Supranuclear gaze palsy
def: "A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal." [https://orcid.org/0000-0002-0736-9199]
synonym: "Supranuclear gaze paralysis" EXACT []
xref: SNOMEDCT_US:420675003
xref: UMLS:C1720037
is_a: HP:0000549 ! Abnormal conjugate eye movement

[Term]
id: HP:0000606
name: Abnormality of the periorbital region
def: "An abnormality of the region situated around the orbit of the eye." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the region around the eye" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the region around the eye socket" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Anomaly of the periorbital region" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the periorbital region" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the periorbital region" NARROW [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025837
is_a: HP:0000271 ! Abnormality of the face

[Term]
id: HP:0000607
name: Periorbital wrinkles
synonym: "Excess periorbital skin wrinkling" EXACT []
synonym: "Periorbital rhytids" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Periorbital wrinkling" EXACT []
synonym: "Wrinkles around the eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1844605
is_a: HP:0000606 ! Abnormality of the periorbital region
is_a: HP:0100678 ! Premature skin wrinkling

[Term]
id: HP:0000608
name: Macular degeneration
alt_id: HP:0007694
alt_id: HP:0007868
def: "A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123]
synonym: "Pigmented macular degeneration" EXACT []
xref: SNOMEDCT_US:422338006
xref: UMLS:C0024437
is_a: HP:0000546 ! Retinal degeneration
is_a: HP:0001103 ! Abnormal macular morphology

[Term]
id: HP:0000609
name: Optic nerve hypoplasia
alt_id: HP:0007273
def: "Underdevelopment of the optic nerve." [https://orcid.org/0000-0002-0736-9199, PMID:31238457]
comment: Double ring sign of optic nerve head is a characteristic fundus finding in cases with optic nerve head hypoplasia.
synonym: "Double ring sign" RELATED []
synonym: "Hypoplastic optic nerves" EXACT []
synonym: "Underdeveloped optic nerves" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:95499004
xref: UMLS:C0338502
is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system
is_a: HP:0008058 ! Aplasia/Hypoplasia of the optic nerve

[Term]
id: HP:0000610
name: Abnormal choroid morphology
alt_id: HP:0001122
def: "Any structural abnormality of the choroid." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the choroid" EXACT []
synonym: "Choroid disease" RELATED []
xref: UMLS:C0008521
xref: UMLS:C4025836
is_a: HP:0000553 ! Abnormal uvea morphology
is_a: HP:0001098 ! Abnormal fundus morphology

[Term]
id: HP:0000611
name: obsolete Choroid coloboma
is_obsolete: true
replaced_by: HP:0000567

[Term]
id: HP:0000612
name: Iris coloboma
alt_id: HP:0007744
alt_id: HP:0007748
def: "A coloboma of the iris." [https://orcid.org/0000-0002-0736-9199, PMID:19369671]
subset: hposlim_core
synonym: "Cat eye" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Coloboma of iris" EXACT []
synonym: "Coloboma of the iris" EXACT []
synonym: "Keyhole iris" EXACT []
xref: UMLS:C0240063
is_a: HP:0000525 ! Abnormality iris morphology
is_a: HP:0000589 ! Coloboma

[Term]
id: HP:0000613
name: Photophobia
def: "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." []
comment: Note that the term photodysphoria is used to describe extreme photophobia.
subset: hposlim_core
synonym: "Extreme sensitivity of the eyes to light" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463, https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Light hypersensitivity" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Photodysphoria" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
xref: SNOMEDCT_US:246622003
xref: SNOMEDCT_US:409668002
xref: UMLS:C0085636
xref: UMLS:C4020887
is_a: HP:0000504 ! Abnormality of vision
is_a: HP:5200058 ! Sensory hypersensitivity
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-0736-9199
property_value: terms:contributor https://orcid.org/0000-0002-4142-7153
property_value: terms:contributor https://orcid.org/0000-0002-4422-1708
property_value: terms:contributor https://orcid.org/0000-0003-3777-1389

[Term]
id: HP:0000614
name: Abnormal nasolacrimal system morphology
def: "An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity." [HPO_CONTRIBUTOR:DDD_ncarter]
comment: The nasolacrimal system consists of the puncta, canaliculi, lacrimal sac, and nasolacrimal duct.
subset: hposlim_core
synonym: "Abnormality of the nasolacrimal system" EXACT []
xref: UMLS:C4025835
is_a: HP:0030669 ! Abnormal ocular adnexa morphology

[Term]
id: HP:0000615
name: Abnormal pupil morphology
alt_id: HP:0008018
alt_id: HP:0030960
def: "An abnormality of the pupil." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormal pupillary morphology" EXACT []
synonym: "Abnormality of the pupil" EXACT layperson []
synonym: "Pupillary abnormalities" EXACT layperson []
synonym: "Pupillary abnormality" EXACT layperson []
xref: SNOMEDCT_US:274093008
xref: UMLS:C0154936
is_a: HP:0000525 ! Abnormality iris morphology

[Term]
id: HP:0000616
name: Miosis
def: "Abnormal (non-physiological) constriction of the pupil." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Constricted pupils" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Pupillary constriction" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:63251006
xref: UMLS:C0026205
is_a: HP:0007686 ! Abnormal pupillary function

[Term]
id: HP:0000617
name: Abnormality of ocular smooth pursuit
alt_id: HP:0007671
alt_id: HP:0008006
def: "An abnormality of eye movement characterized by impaired smooth-pursuit eye movements." [https://orcid.org/0000-0002-0736-9199]
comment: Tracking eye movements consist of two different components, namely, smooth pursuit and saccades. Smooth pursuit, or just pursuit, is a class of rather slow eye movements that minimizes retinal target motion. Saccades are rapid eye movements that align the fovea with the target. Slow-pursuit eye movements are involved in tracking a slowly moving target after the saccadic system has placed the image of the target on the fovea.
synonym: "Abnormal smooth pursuits" EXACT []
synonym: "Disrupted ocular pursuit movements" EXACT []
synonym: "Impaired smooth pursuit ocular movements" EXACT []
synonym: "Irregular visual pursuit movements" EXACT []
xref: UMLS:C1836393
is_a: HP:0000496 ! Abnormality of eye movement

[Term]
id: HP:0000618
name: Blindness
alt_id: HP:0007839
def: "Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation." [https://orcid.org/0000-0001-8727-6592, PMID:28779882]
comment: Various scales have been developed to describe the extent of vision loss and define blindness. Total blindness is the complete lack of form and visual light perception and is clinically recorded as NLP (no light perception). Blindness is frequently used to describe severe visual impairment with residual vision. Those described as having only light perception have no more sight than the ability to tell light from dark and the general direction of a light source.
subset: hposlim_core
synonym: "Blindness" EXACT layperson []
synonym: "Legal blindness" RELATED layperson []
synonym: "Total vision loss" EXACT []
xref: Fyler:4866
xref: SNOMEDCT_US:65956007
xref: UMLS:C0271215
xref: UMLS:C0456909
is_a: HP:0007663 ! Reduced visual acuity

[Term]
id: HP:0000619
name: Impaired convergence
def: "Reduced ability to turn the eyes inward in order to focus on a nearby object." [https://orcid.org/0000-0002-0736-9199]
comment: Vergence alters the angle between the two eyes to adjust for changes in distance from the visual target.
synonym: "Convergence insufficiency" EXACT []
xref: SNOMEDCT_US:194131002
xref: UMLS:C0271379
is_a: HP:0000549 ! Abnormal conjugate eye movement

[Term]
id: HP:0000620
name: Dacryocystitis
def: "Inflammation of the nasolacrimal sac." [https://orcid.org/0000-0002-0736-9199]
comment: Dacrocystitis is frequently caused by nasolacrimal duct obstruction or infection, which often results from stagnation of tears in a pathologically closed lacrimal drainage system. Note also that dacryocystistis has often been misspelled as dacrocystitis in the literature, but the correct spelling is dacryocystitis.
synonym: "Dacrocystitis" EXACT []
synonym: "Infection of the lacrimal sac" EXACT [https://en.wikipedia.org/wiki/dacryocystitis, https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:85777005
xref: UMLS:C0010930
is_a: HP:0000614 ! Abnormal nasolacrimal system morphology

[Term]
id: HP:0000621
name: Entropion
def: "An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital." [https://orcid.org/0000-0003-0986-4123, PMID:19125427]
comment: The inward turned eyelid margin increases the potential for mechanical irritation of the eye by eyelashes. Entropion is to be distinguished from epiblepharon.
subset: hposlim_core
synonym: "Eyelid folded in" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Eyelid turned in" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Inverted eyelid" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:33168009
xref: UMLS:C0014390
is_a: HP:0000492 ! Abnormal eyelid morphology

[Term]
id: HP:0000622
name: Blurred vision
alt_id: HP:0007723
def: "Lack of sharpness of vision resulting in the inability to see fine detail." [https://orcid.org/0000-0002-0736-9199]
comment: This is a very nonspecific term and it is preferable to describe the correlates of blurred vision with the corresponding terms if possible.
subset: hposlim_core
synonym: "Blurred vision" EXACT layperson []
xref: SNOMEDCT_US:111516008
xref: SNOMEDCT_US:246636008
xref: UMLS:C0344232
is_a: HP:0000504 ! Abnormality of vision

[Term]
id: HP:0000623
name: Supranuclear ophthalmoplegia
def: "A vertical gaze palsy with inability to direct the gaze of the eyes downwards." [https://orcid.org/0000-0002-0736-9199, PMID:20629667]
subset: hposlim_core
xref: UMLS:C1408507
is_a: HP:0000602 ! Ophthalmoplegia

[Term]
id: HP:0000625
name: Eyelid coloboma
def: "A short discontinuity of the margin of the lower or upper eyelid." [PMID:19125427]
comment: The lateral segment of the lower eyelid is most commonly involved. As the milder forms of this finding are clearly subjective and no boundary of subjective and objective is defined, the term is considered subjective. The term eyelid coloboma has been replaced because the word coloboma should be used only for defects at the site of fusion of embryologic structures, which is not the case here. Modifiers to designate the location of the cleft may be added, such as lower and lateral.
subset: hposlim_core
synonym: "Cleft eyelid" EXACT layperson []
synonym: "Full thickness defect of the eyelid" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Notched eyelid" EXACT layperson []
xref: SNOMEDCT_US:95202004
xref: UMLS:C0521573
is_a: HP:0011226 ! Aplasia/Hypoplasia of the eyelid

[Term]
id: HP:0000627
name: Posterior embryotoxon
alt_id: HP:0100740
def: "A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe." [https://orcid.org/0000-0002-0736-9199]
comment: Schwalbe's line is the anatomical line found on the interior surface of the cornea, and delineates the outer limit of the corneal endothelium layer. Specifically, it represents the termination of Descemet's membrane. Up to 30% of the population has posterior embryotoxon as an isolated normal variant.
subset: hposlim_core
synonym: "Embryotoxon" EXACT []
xref: SNOMEDCT_US:253228006
xref: SNOMEDCT_US:392437005
xref: UMLS:C0344531
xref: UMLS:C0546967
is_a: HP:0008048 ! Abnormal line of Schwalbe morphology

[Term]
id: HP:0000629
name: Periorbital fullness
def: "Increase in periorbital soft tissue." [https://orcid.org/0009-0006-4530-3154]
synonym: "Fullness around the eyes" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Periorbital puffiness" EXACT []
synonym: "Periorbital swelling" EXACT []
synonym: "Puffiness around eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Puffy eyes" EXACT []
synonym: "Swelling around the eyes" EXACT []
xref: UMLS:C1858036
is_a: HP:0000606 ! Abnormality of the periorbital region

[Term]
id: HP:0000630
name: Abnormal retinal artery morphology
synonym: "Abnormality of retinal arteries" EXACT layperson []
synonym: "Retinal arterial abnormality" EXACT layperson []
xref: UMLS:C4021802
is_a: HP:0008046 ! Abnormal retinal vascular morphology
is_a: HP:0011004 ! Abnormal systemic arterial morphology
is_a: HP:3000036 ! Abnormal head blood vessel morphology

[Term]
id: HP:0000631
name: Retinal arterial tortuosity
def: "The presence of an increased number of twists and turns of the retinal artery." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Retinal artery tortuousity" EXACT []
xref: SNOMEDCT_US:247123003
xref: UMLS:C0423401
is_a: HP:0000630 ! Abnormal retinal artery morphology
is_a: HP:0005116 ! Arterial tortuosity
is_a: HP:0012841 ! Retinal vascular tortuosity

[Term]
id: HP:0000632
name: Lacrimation abnormality
alt_id: HP:0000521
def: "Abnormality of tear production." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of tear production" EXACT layperson []
xref: UMLS:C4021801
is_a: HP:0012373 ! Abnormal eye physiology

[Term]
id: HP:0000633
name: Decreased lacrimation
def: "Abnormally decreased lacrimation, that is, reduced tear production." [https://orcid.org/0000-0002-0736-9199, PMID:35925585]
comment: As part of the lacrimal apparatus, the lacrimal gland participates in the maintenance of a healthy eye surface by producing the aqueous part of the tear film. Alacrimia and hypolacrimia, which are relatively rare during childhood or young adulthood, have their origin in a number of mechanisms which include agenesia, aplasia, hypoplasia, or incorrect maturation of the gland.
synonym: "Decreased tear secretion" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Hypolacrimia" EXACT []
xref: UMLS:C0235857
is_a: HP:0000632 ! Lacrimation abnormality

[Term]
id: HP:0000634
name: Impaired ocular abduction
def: "An impaired ability of the eye to move in the outward direction (towards the side of the head)." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1846462
is_a: HP:0011347 ! Abnormality of ocular abduction

[Term]
id: HP:0000635
name: Blue irides
def: "A markedly blue coloration of the iris." [https://orcid.org/0000-0002-0736-9199]
synonym: "Blue eyes" EXACT layperson []
xref: SNOMEDCT_US:301952009
xref: UMLS:C0578626
is_a: HP:0008034 ! Abnormal iris pigmentation

[Term]
id: HP:0000636
name: Upper eyelid coloboma
def: "A short discontinuity of the margin of the upper eyelid." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cleft upper eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Coloboma of the upper eyelid" EXACT []
synonym: "Full thickness defect of the upper eyelid" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Notched upper eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Upper eyelid colobomas" EXACT []
xref: UMLS:C1863872
is_a: HP:0000625 ! Eyelid coloboma

[Term]
id: HP:0000637
name: Long palpebral fissure
alt_id: HP:0007904
def: "Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures." [PMID:19125427]
subset: hposlim_core
synonym: "Broad opening between the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Broad palpebral fissure" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Long opening between the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Long palpebral fissures" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Wide opening between the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Wide palpebral fissure" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Wide palpebral fissures" EXACT []
xref: UMLS:C1849340
is_a: HP:0200007 ! Abnormal size of the palpebral fissures

[Term]
id: HP:0000639
name: Nystagmus
def: "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Involuntary, rapid, rhythmic eye movements" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:563001
xref: UMLS:C0028738
is_a: HP:0012547 ! Abnormal involuntary eye movements

[Term]
id: HP:0000640
name: Gaze-evoked nystagmus
def: "Nystagmus made apparent by looking to the right or to the left." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:29356006
xref: UMLS:C0271390
is_a: HP:0000639 ! Nystagmus

[Term]
id: HP:0000641
name: Dysmetric saccades
def: "The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results." [https://orcid.org/0000-0002-0736-9199, PMID:572501]
subset: hposlim_core
synonym: "Dysmetric eye movements" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Dysmetric eye saccades" EXACT []
synonym: "Uncoordinated eye movement" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1836392
is_a: HP:0000570 ! Abnormal saccadic eye movements

[Term]
id: HP:0000642
name: Red-green dyschromatopsia
alt_id: HP:0007960
def: "Difficulty with discriminating red and green hues." [https://orcid.org/0000-0001-8727-6592]
synonym: "Dyschromatopsia with red-green confusion" EXACT []
synonym: "Red green color blindness" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Red green colour blindness" EXACT uk_spelling []
synonym: "Red/green color vision defect" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Red/green colour vision defect" RELATED uk_spelling []
xref: SNOMEDCT_US:246674000
xref: SNOMEDCT_US:77479002
xref: UMLS:C0155016
xref: UMLS:C1970168
is_a: HP:0007641 ! Dyschromatopsia

[Term]
id: HP:0000643
name: Blepharospasm
alt_id: HP:0007907
def: "A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids." [https://orcid.org/0000-0002-0736-9199]
synonym: "Eyelid spasm" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Eyelid twitching" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Involuntary closure of eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Spontaneous closure of eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:59026006
xref: UMLS:C0005747
is_a: HP:0012179 ! Craniofacial dystonia
is_a: HP:0031879 ! Abnormal eyelid physiology

[Term]
id: HP:0000646
name: Amblyopia
def: "Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways." [https://orcid.org/0000-0002-0736-9199]
comment: Ambylopia can result from visual deprivation during the critical period of development of visual abilities which lasts to about the age of 8 years. Thus, ambylopia can result from strabismus, anisometropia, or high hypermetropia in there is a failure to form a focused image in one or both eyes.
subset: hposlim_core
synonym: "Lazy eye" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Wandering eye" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Wandering eyes" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:387742006
xref: UMLS:C0002418
is_a: HP:0007663 ! Reduced visual acuity

[Term]
id: HP:0000647
name: Sclerocornea
def: "A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Hardening of skin and connective tissue" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1853235
is_a: HP:0007957 ! Corneal opacity

[Term]
id: HP:0000648
name: Optic atrophy
alt_id: HP:0007751
alt_id: HP:0007855
def: "Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy." [https://orcid.org/0000-0002-0736-9199]
comment: The diagnosis of optic atrophy is made when the optic disc loses its normal orange-pink color. Optic atrophy is an end stage that arises from myriad causes of optic nerve damage anywhere along the path from the retina to the lateral geniculate. Some of the most common etiologies are advanced glaucoma, optic neuritis, arteritic or non-arteritic ischemic optic neuropathy or a compressive lesion.
subset: hposlim_core
synonym: "Optic nerve atrophy" EXACT []
synonym: "Optic-nerve degeneration" EXACT []
xref: SNOMEDCT_US:76976005
xref: UMLS:C0029124
is_a: HP:0012795 ! Abnormal optic disc morphology

[Term]
id: HP:0000649
name: Abnormality of visual evoked potentials
def: "An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex." [https://orcid.org/0000-0002-0736-9199, PMID:19826847]
comment: The terms visually evoked potential (VEP), visually evoked response (VER) and visually evoked cortical potential (VECP) are equivalent.
subset: hposlim_core
synonym: "Abnormal vision evoked potentials" EXACT []
synonym: "Abnormal visual evoked potential" EXACT []
synonym: "Abnormal visual evoked responses" EXACT []
synonym: "Abnormal visual-evoked potentials" EXACT []
synonym: "VEP abnormalities" EXACT []
xref: SNOMEDCT_US:102968003
xref: UMLS:C0522214
is_a: HP:0030453 ! Abnormal visual electrophysiology
is_a: HP:0430106 ! Abnormal brain-evoked potentials

[Term]
id: HP:0000650
name: Abnormal amplitude of pattern reversal visual evoked potentials
xref: UMLS:C4025834
is_a: HP:0100289 ! Abnormality of pattern reversal visual evoked potentials

[Term]
id: HP:0000651
name: Diplopia
def: "Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Double vision" EXACT layperson []
xref: SNOMEDCT_US:24982008
xref: UMLS:C0012569
is_a: HP:0011514 ! Abnormality of binocular vision

[Term]
id: HP:0000652
name: Lower eyelid coloboma
alt_id: HP:0007909
def: "A short discontinuity of the margin of the lower eyelid." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cleft lower eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Coloboma of lower eyelid" EXACT []
synonym: "Full thickness defect of the lower eyelid" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Lower lid coloboma" EXACT []
synonym: "Notched lower eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1837826
is_a: HP:0000625 ! Eyelid coloboma

[Term]
id: HP:0000653
name: Sparse eyelashes
alt_id: HP:0002284
alt_id: HP:0004519
alt_id: HP:0004531
alt_id: HP:0004555
alt_id: HP:0004777
alt_id: HP:0007853
def: "Decreased density/number of eyelashes." [PMID:19125427]
subset: hposlim_core
synonym: "Hypotrichosis of eyelashes" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Partial absence of eyelashes" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Scant eyelashes" EXACT layperson []
synonym: "Scanty eyelashes" EXACT layperson []
synonym: "Sparse eyelashes" EXACT layperson []
synonym: "Thin eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1843300
is_a: HP:0008070 ! Sparse hair
is_a: HP:0200102 ! Sparse or absent eyelashes

[Term]
id: HP:0000654
name: Decreased light- and dark-adapted electroretinogram amplitude
alt_id: HP:0007636
alt_id: HP:0007689
alt_id: HP:0007845
def: "Decreased amplitude of eletrical response upon electroretinography." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased amplitudes on flash visual electroretinogram" EXACT []
synonym: "Decreased electroretinogram" EXACT []
synonym: "Decreased electroretinogram amplitude" EXACT []
synonym: "Decreased electroretinogram response" EXACT []
synonym: "Decreased ERG amplitude" EXACT []
synonym: "Flattened or absent electroretinogram" EXACT []
synonym: "Reduced electroretinogram" EXACT []
synonym: "Reduced ERG" EXACT []
synonym: "Reduced or abolished electroretinogram" EXACT []
xref: UMLS:C1839025
is_a: HP:0008323 ! Abnormal light- and dark-adapted electroretinogram

[Term]
id: HP:0000655
name: obsolete Vitreoretinal degeneration
is_obsolete: true
replaced_by: HP:0007773

[Term]
id: HP:0000656
name: Ectropion
def: "An outward turning (eversion) or rotation of the eyelid margin." [PMID:19125427]
comment: Ectropion is frequently associated wit overexposure of the palpebral and scleral conjunctiva and cornea. It usually involves the lower eyelid.
subset: hposlim_core
synonym: "Everted eyelid" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Eyelid folded out" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Eyelid turned out" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:127559009
xref: SNOMEDCT_US:62909004
xref: UMLS:C0013592
is_a: HP:0000492 ! Abnormal eyelid morphology

[Term]
id: HP:0000657
name: Oculomotor apraxia
alt_id: HP:0000628
alt_id: HP:0007764
def: "Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex." [https://orcid.org/0000-0002-0736-9199, PMID:20615230]
comment: Oculomotor apraxia leads defective or absent horizontal voluntary eye movements with head thrusting to look at objects to the side as well as jerky, abnormal eye movements.
subset: hposlim_core
synonym: "Defective or absent horizontal voluntary eye movements" RELATED []
synonym: "Ocular motor apraxia" EXACT []
xref: SNOMEDCT_US:193662007
xref: UMLS:C3489733
xref: UMLS:C4020886
is_a: HP:0000496 ! Abnormality of eye movement
is_a: HP:0002186 ! Apraxia

[Term]
id: HP:0000658
name: Eyelid apraxia
synonym: "Difficulty opening the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:423142006
xref: UMLS:C1142448
is_a: HP:0002186 ! Apraxia
is_a: HP:0031879 ! Abnormal eyelid physiology

[Term]
id: HP:0000659
name: Peters anomaly
def: "A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
xref: SNOMEDCT_US:204153003
xref: UMLS:C0344559
is_a: HP:0007700 ! Ocular anterior segment dysgenesis

[Term]
id: HP:0000660
name: Lipemia retinalis
def: "A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature." [PMID:10379021, PMID:16120862]
comment: Lipemia retinalis is thought to be directly correlated with the serum triglyceride level; typically, the retinal findings do not occur until the triglyceride level reaches 2500 mg per deciliter (28.2 mmol per liter).
xref: SNOMEDCT_US:95692001
xref: UMLS:C0339477
is_a: HP:0008046 ! Abnormal retinal vascular morphology

[Term]
id: HP:0000661
name: Palpebral fissure narrowing on adduction
xref: UMLS:C1846465
is_a: HP:0000581 ! Blepharophimosis

[Term]
id: HP:0000662
name: Nyctalopia
alt_id: HP:0007653
alt_id: HP:0007725
alt_id: HP:0007865
alt_id: HP:0007895
def: "Inability to see well at night or in poor light." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Difficulties with night vision" RELATED layperson []
synonym: "Night blindness" EXACT layperson []
synonym: "Night-blindness" EXACT layperson []
synonym: "Poor night vision" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:65194006
xref: UMLS:C0028077
xref: UMLS:C4020885
is_a: HP:0000504 ! Abnormality of vision

[Term]
id: HP:0000664
name: Synophrys
alt_id: HP:0002210
def: "Meeting of the medial eyebrows in the midline." [PMID:19125427]
subset: hposlim_core
synonym: "Monobrow" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Synophris" EXACT []
synonym: "Unibrow" EXACT layperson []
xref: SNOMEDCT_US:253207002
xref: UMLS:C0431447
is_a: HP:0000534 ! Abnormal eyebrow morphology
is_a: HP:0002219 ! Facial hypertrichosis

[Term]
id: HP:0000666
name: Horizontal nystagmus
def: "Nystagmus consisting of horizontal to-and-fro eye movements." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Nystagmus, horizontal" EXACT []
xref: SNOMEDCT_US:81756001
xref: UMLS:C0271385
is_a: HP:0000639 ! Nystagmus

[Term]
id: HP:0000667
name: Phthisis bulbi
def: "Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease." [https://orcid.org/0000-0002-0736-9199]
comment: Phthisis bulbi refers to atrophy and degeneration of a blind eye.
subset: hposlim_core
xref: SNOMEDCT_US:4229009
xref: UMLS:C0271007
is_a: HP:0012372 ! Abnormal eye morphology

[Term]
id: HP:0000668
name: Hypodontia
def: "The absence of five or less teeth from the normal series by a failure to develop." [https://orcid.org/0000-0002-9338-3017, PMID:31468724]
comment: Hypodontia needs to be confirmed by X-rays. The terms hypodontia and oligodontia have been used interchangeably in literature but these define two different clinical entities. Hypodontia has been used to define exclusively the absence of permanent teeth and excluding third molars, but the absence of any deciduous and permanent teeth, including third molars, should be called hypodontia as well.
subset: hposlim_core
synonym: "Failure of development of between one and six teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing between one and six teeth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:64969001
xref: UMLS:C0020608
is_a: HP:0009804 ! Tooth agenesis

[Term]
id: HP:0000670
name: Carious teeth
alt_id: HP:0006295
alt_id: HP:0006306
def: "Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries." [https://orcid.org/0000-0002-0736-9199]
comment: It should be noted that it is not always possible to rule out environmental influences and that reports of association between hereditary diseases and susceptibility to dental caries should be regarded with caution.
subset: hposlim_core
synonym: "Caries" EXACT []
synonym: "Cariosity of teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Dental caries" EXACT []
synonym: "Dental cavities" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Dental decay" RELATED layperson []
synonym: "Early dental caries" EXACT []
synonym: "Frequent caries" EXACT []
synonym: "Rotting teeth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Tooth cavities" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Tooth decay" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:80967001
xref: UMLS:C0011334
xref: UMLS:C4280623
is_a: HP:0011061 ! Abnormality of dental structure

[Term]
id: HP:0000674
name: Anodontia
alt_id: HP:0006484
def: "The absence of all teeth from the normal series by a failure to develop." [https://orcid.org/0000-0002-9338-3017, PMID:31468724]
comment: Anodontia can affect both primary and permanent teeth. Alternatively, there can be anodontia of just the permanent teeth. Anodontia must be distinguished from non-erupted teeth.
synonym: "Anodontia vera" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Complete agenesis of all teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Complete anodontia" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Complete dental agenesis" EXACT []
synonym: "Failure of development of all teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing all teeth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Total absence of all teeth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Total anodontia" NARROW [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:16958000
xref: SNOMEDCT_US:26624006
xref: UMLS:C0399352
xref: UMLS:C4280622
is_a: HP:0009804 ! Tooth agenesis

[Term]
id: HP:0000675
name: Macrodontia of permanent maxillary central incisor
def: "Increased size of the maxillary central secondary incisor tooth." [https://orcid.org/0000-0002-9338-3017]
synonym: "Hyperplasia of permanent maxillary central incisor" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypertrophy of permanent maxillary central incisor" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased size of permanent maxillary central incisor" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased size of permanent upper central incisor" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased width of permanent maxillary central incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased width of permanent upper central incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Large permanent maxillary central incisor" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Large permanent upper central incisor" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Long maxillary central incisors" EXACT []
synonym: "Prominent upper incisors" EXACT []
synonym: "Prominent, protruding upper incisors" EXACT []
xref: UMLS:C1835095
xref: UMLS:C4280263
xref: UMLS:C4280620
xref: UMLS:C4280621
is_a: HP:0011081 ! Incisor macrodontia

[Term]
id: HP:0000676
name: Abnormality of the incisor
alt_id: HP:0006340
def: "An abnormality of the Incisor tooth." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025833
is_a: HP:0000164 ! Abnormality of the dentition

[Term]
id: HP:0000677
name: Oligodontia
alt_id: HP:0000702
def: "The absence of six or more teeth from the normal series by a failure to develop." [PMID:19125428, PMID:31468724]
comment: The diagnosis of oligodontia requires a radiograph, as is true for anodontia and for the other designation of tooth agenesis, hypodontia. The terms hypodontia and oligodontia are sometimes used interchangeably in the literature while on other occasions hypodontia is used for selective agenesis of six or less missing teeth while oligodontia is applied when there are more than six missing teeth. Tooth agenesis or oligodontia/hypodontia can be mistaken for delayed eruption and again a radiograph is needed for diagnosis. Absence of teeth may be congenital (tooth agenesis) or acquired. The incidence of congenital absence of teeth is different depending on the type and position of the tooth [Gorlin et al, 2001].
synonym: "Failure of development of more than six teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing more than six teeth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Number of teeth decreased by more than six" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Partial anodontia" EXACT []
xref: UMLS:C4082304
xref: UMLS:C4280619
is_a: HP:0009804 ! Tooth agenesis

[Term]
id: HP:0000678
name: Dental crowding
def: "Changes in alignment of teeth in the dental arch" [PMID:19125428, PMID:31468724]
comment: Overlapping teeth within an alveolar ridge.
subset: hposlim_core
synonym: "Crowded teeth" EXACT layperson []
synonym: "Dental crowding" EXACT layperson []
synonym: "Dental overcrowding" EXACT layperson []
synonym: "Inadequate arch length for tooth size" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Overcrowding of teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Tooth mass arch size discrepancy" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Tooth size discrepancy" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:12351004
xref: SNOMEDCT_US:699222000
xref: UMLS:C0040433
xref: UMLS:C1317785
xref: UMLS:C4280617
xref: UMLS:C4280618
is_a: HP:0000692 ! Tooth malposition

[Term]
id: HP:0000679
name: Taurodontia
def: "Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots." [https://orcid.org/0000-0002-9338-3017, PMID:31468724]
comment: Taurodontia causes a molar shape that is visible on radiographs. Taurodontic teeth display proportionately short roots and enlarged pulp chambers. Body of the tooth and pulp chamber is enlarged.
subset: hposlim_core
synonym: "Large elongated pulp chamber" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Taurodont" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Taurodontism" EXACT []
xref: SNOMEDCT_US:51744007
xref: UMLS:C0266039
xref: UMLS:C4280616
is_a: HP:0006479 ! Abnormal dental pulp morphology
is_a: HP:0006486 ! Abnormal dental root morphology
is_a: HP:0011071 ! Abnormal permanent molar morphology

[Term]
id: HP:0000680
name: Delayed eruption of primary teeth
def: "Delayed tooth eruption affecting the primary dentition." [https://orcid.org/0000-0002-9338-3017]
synonym: "Delayed eruption of baby teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Delayed eruption of deciduous teeth" EXACT []
synonym: "Delayed eruption of milk teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Delayed primary teeth eruption" EXACT []
synonym: "Late eruption of baby teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Late eruption of milk teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Late eruption of primary teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1849538
is_a: HP:0000684 ! Delayed eruption of teeth
is_a: HP:0006481 ! Abnormality of primary teeth

[Term]
id: HP:0000682
name: Abnormal dental enamel morphology
alt_id: HP:0006322
def: "An abnormality of the dental enamel." [https://orcid.org/0000-0002-0736-9199]
comment: The dental enamel is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite.
subset: hposlim_core
synonym: "Abnormal tooth enamel" EXACT layperson []
synonym: "Abnormality of dental enamel" EXACT []
synonym: "Defective tooth enamel" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Dystrophic tooth enamel" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Enamel abnormalities" EXACT layperson []
synonym: "Enamel abnormality" EXACT layperson []
synonym: "Malformation of dental enamel" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of tooth enamel" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4021800
xref: UMLS:C4280262
xref: UMLS:C4280615
is_a: HP:0011061 ! Abnormality of dental structure
is_a: HP:3000050 ! Abnormal odontoid tissue morphology

[Term]
id: HP:0000683
name: Grayish enamel
def: "A gray discoloration of the dental enamel." [https://orcid.org/0000-0002-9338-3017]
comment: Grey enamel may be seen in dentinogenesis imperfecta, but dentinogenesis imperfecta should be coded separately if present.
synonym: "Gray colored tooth enamel" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Gray tooth shade" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Grayish enamel" EXACT layperson []
synonym: "Grey coloured tooth enamel" EXACT uk_spelling []
synonym: "Grey tooth shade" EXACT uk_spelling []
synonym: "Greyish enamel" EXACT layperson []
xref: UMLS:C1854783
is_a: HP:0000682 ! Abnormal dental enamel morphology
is_a: HP:0011073 ! Abnormality of dental color

[Term]
id: HP:0000684
name: Delayed eruption of teeth
alt_id: HP:0000686
alt_id: HP:0006294
alt_id: HP:0006314
alt_id: HP:0006328
def: "Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age." [https://orcid.org/0000-0002-9338-3017, PMID:19125428, PMID:31468724]
comment: This term should not be used in a patient with Gingival overgrowth. Eruption is defined by the appearance of a tooth that has pierced the oral mucosa. There are established norms for the timing of eruption in both deciduous and permanent teeth. Eruption delay may affect either the deciduous teeth, permanent teeth, or both. The absence of shedding of deciduous teeth may be seen in association with delayed permanent tooth eruption or agenesis of successional permanent teeth. The diagnosis eruption delayed requires clinical and radiographic examinations.
subset: hposlim_core
synonym: "Delayed dental development" EXACT []
synonym: "Delayed dental eruption" EXACT []
synonym: "Delayed eruption" EXACT layperson []
synonym: "Delayed eruption of teeth" EXACT layperson []
synonym: "Delayed teeth eruption" EXACT layperson []
synonym: "Delayed tooth eruption" EXACT layperson []
synonym: "Eruption, delayed" EXACT layperson []
synonym: "Late eruption of teeth" EXACT layperson []
synonym: "Late tooth eruption" EXACT layperson []
xref: SNOMEDCT_US:5639000
xref: UMLS:C0239174
is_a: HP:0006292 ! Abnormality of dental eruption

[Term]
id: HP:0000685
name: Hypoplasia of teeth
alt_id: HP:0000688
alt_id: HP:0006281
alt_id: HP:0006307
def: "Developmental hypoplasia of teeth." [https://orcid.org/0000-0002-9338-3017]
synonym: "Decreased size of teeth" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplastic teeth" EXACT []
synonym: "Underdevelopment of teeth" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C0235357
xref: UMLS:C4280611
is_a: HP:0011061 ! Abnormality of dental structure

[Term]
id: HP:0000687
name: Widely spaced teeth
def: "Increased spaces (diastemata) between most of the teeth in the same dental arch." [PMID:19125428]
comment: Wide spacing can be secondary to increased room by an unusually large dental arch, microdontia or mixed primary and secondary dentition. It should be carefully noted that slight spacing between the primary teeth is normal, so experience in evaluation is important in determining this feature. This descriptor must be distinguished from Diastema.
subset: hposlim_core
synonym: "Generalised dental spacing" EXACT uk_spelling []
synonym: "Generalised spacing of teeth" EXACT uk_spelling []
synonym: "Generalized dental spacing" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Generalized spacing of teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Multiple diastemata" EXACT []
synonym: "Wide-spaced teeth" EXACT layperson []
synonym: "Widely spaced teeth" EXACT layperson []
synonym: "Widely-spaced teeth" EXACT layperson []
xref: UMLS:C1844813
is_a: HP:0000692 ! Tooth malposition

[Term]
id: HP:0000689
name: Dental malocclusion
def: "Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns." [PMID:31468724]
synonym: "Angle class 2 malocclusion" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Angle class 3 malocclusion" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Bad bite" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Bilateral crossbite" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Bilateral crossbite malocclusion" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Incorrect relation between upper and lower dental arches" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Malalignment of upper and lower dental arches" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malocclusion" EXACT []
synonym: "Malocclusion of teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Misalignment of upper and lower dental arches" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Occlusion anomaly" EXACT []
xref: SNOMEDCT_US:47944004
xref: SNOMEDCT_US:707598004
xref: UMLS:C0024636
xref: UMLS:C4280613
xref: UMLS:C4280614
is_a: HP:0000692 ! Tooth malposition

[Term]
id: HP:0000690
name: Agenesis of maxillary lateral incisor
def: "Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor." [https://orcid.org/0000-0002-9338-3017]
synonym: "Absence of maxillary lateral incisor" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Absence of upper lateral incisor" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Absent upper lateral incisors" EXACT []
synonym: "Failure of development of maxillary lateral incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing maxillary lateral incisor" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing upper lateral incisor" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1849950
xref: UMLS:C4083046
is_a: HP:0200153 ! Agenesis of lateral incisor
is_a: HP:0200160 ! Agenesis of maxillary incisor

[Term]
id: HP:0000691
name: Microdontia
def: "Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth." [https://orcid.org/0000-0002-9338-3017, PMID:19125428]
comment: Standard reference has means and standard deviations by gender [Moyers et al, 1976]. It is easy to measure the width of teeth, for which reason the definition of microdontia can be made with reference to the width of the tooth. However, microdontia means that the overall size of the tooth is decreased. In microdontia, the gaps between the teeth, particularly the anterior upper and lower teeth, are increased, creating diastemata. This should be assessed and coded separately.
subset: hposlim_core
synonym: "Decreased size of tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased width of tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypotrophic tooth" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Small teeth" EXACT []
synonym: "Small tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Tooth hypoplasia" EXACT []
synonym: "Tooth hypotrophy" EXACT []
synonym: "Underdeveloped tooth" EXACT []
xref: SNOMEDCT_US:32337007
xref: UMLS:C0240340
xref: UMLS:C4280611
xref: UMLS:C4280612
is_a: HP:0006482 ! Abnormal dental morphology

[Term]
id: HP:0000692
name: Tooth malposition
alt_id: HP:0000693
alt_id: HP:0001569
alt_id: HP:0006303
alt_id: HP:0006478
def: "Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth." [https://orcid.org/0000-0002-9338-3017]
synonym: "Abnormal dental position" EXACT layperson []
synonym: "Abnormal teeth spacing" EXACT layperson []
synonym: "Abnormality of alignment of teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of position of teeth" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of teeth spacing" EXACT layperson []
synonym: "Crooked teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malaligned teeth" EXACT layperson []
synonym: "Malposition of teeth" EXACT layperson []
synonym: "Malpositioned teeth" EXACT layperson []
synonym: "Misalignment of teeth" EXACT layperson []
synonym: "Teeth, malposition" EXACT []
xref: UMLS:C1852504
xref: UMLS:C4280610
is_a: HP:0000164 ! Abnormality of the dentition

[Term]
id: HP:0000694
name: Odontodysplasia
def: "The diagnosis odontodysplasia requires clinical and radiological exams, in which unusually large pulp chambers and large pulp room chambers with thin enamel and dentin are visible. It may affect either a single tooth or several teeth. The term regional odontodysplasia is used if several teeth are affected. It affects the deciduous and permanent dentitions in the maxilla, the mandible or both, although the maxilla is more frequently involved. A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin." [https://orcid.org/0000-0002-9338-3017]
synonym: "Ghost teeth" EXACT []
synonym: "Shell teeth" EXACT []
synonym: "Teeth with dentinal dysplasia" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Teeth with thin dentin and large pulp chambers" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Teeth with type iii dentinogenesis imperfecta" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:67504007
xref: UMLS:C2981132
is_a: HP:0000703 ! Dentinogenesis imperfecta

[Term]
id: HP:0000695
name: Natal tooth
def: "A tooth present at birth or erupting within the first month of life." [PMID:19125428, PMID:31468724]
comment: A tooth erupting between the second and fourth month is called a neonatal tooth. A natal tooth is uncommon, the prevalence at birth is 1/2000 to 1/3500 birth. In 85%, the erupted tooth is the deciduous lower incisors, and in 5%, it concerns upper incisors or molars, and in 10%, it involves supernumerary teeth. Natal teeth are usually mobile and lack root formation.
subset: hposlim_core
synonym: "Born with teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Natal teeth" EXACT []
synonym: "Neonatal teeth" EXACT []
synonym: "Teeth present at birth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:21995002
xref: SNOMEDCT_US:58748004
xref: UMLS:C0027443
is_a: HP:0006288 ! Advanced eruption of teeth

[Term]
id: HP:0000696
name: Delayed eruption of permanent teeth
def: "Delayed tooth eruption affecting the secondary dentition." [https://orcid.org/0000-0002-9338-3017]
synonym: "Delayed eruption of adult teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Delayed eruption of permanent teeth" EXACT layperson []
synonym: "Delayed eruption of secondary dentition" EXACT []
synonym: "Delayed eruption of secondary teeth" EXACT []
synonym: "Delayed permanent dentition" EXACT []
xref: UMLS:C1849540
is_a: HP:0000684 ! Delayed eruption of teeth

[Term]
id: HP:0000698
name: Conical tooth
def: "An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally." [https://orcid.org/0000-0002-9338-3017, PMID:31468724]
comment: A conical shape of a tooth occurs in incisors and canines only. Conical teeth may occur isolated or associated with other dental anomalies, such as hypodontia and oligodontia; this should be assessed and coded separately.
subset: hposlim_core
synonym: "Cone shaped tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Conical teeth" RELATED []
synonym: "Conoid tooth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Peg shaped teeth" EXACT []
synonym: "Peg shaped tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Peg tooth" EXACT []
synonym: "Peg-shaped teeth" EXACT []
synonym: "Pointed tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Shark tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:29553002
xref: UMLS:C0266037
xref: UMLS:C4012359
is_a: HP:0006482 ! Abnormal dental morphology

[Term]
id: HP:0000699
name: Diastema
def: "Increased space between two adjacent teeth in the same dental arch." [PMID:19125428]
comment: Usually there is contact between the lateral aspects of the permanent teeth, at their broadest point. Diastema can apply to any pair of teeth and the term should be modified by a descriptor of the involved teeth. This descriptor must be distinguished from Widely spaced teeth.
subset: hposlim_core
synonym: "Dental diastasis" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Dental diastema" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Diastasis of the teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Diastema of the teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Gap between teeth" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Gaps between teeth" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:35591002
xref: UMLS:C0011998
is_a: HP:0000692 ! Tooth malposition

[Term]
id: HP:0000700
name: Periapical bone loss
def: "Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root)." [https://orcid.org/0000-0002-9338-3017]
comment: Periapical radiolucencies can be seen with periapical granuloma, cysts, ameloblastoma, odotogenic keratatoycsts, and other lesions.
synonym: "Bone loss around tooth root" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Dark spot around tooth root on x-ray" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Periapical cyst" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Periapical granuloma" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Periapical lesion" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Periapical radiolucencies" RELATED []
synonym: "Periapical radiolucency" RELATED []
xref: SNOMEDCT_US:81407003
xref: SNOMEDCT_US:89988002
xref: UMLS:C0031029
xref: UMLS:C0034543
xref: UMLS:C1852169
xref: UMLS:C4280609
is_a: HP:0000164 ! Abnormality of the dentition

[Term]
id: HP:0000703
name: Dentinogenesis imperfecta
def: "Developmental dysplasia of dentin." [https://orcid.org/0000-0002-9338-3017]
comment: This term is kept for convenience since it is often used to refer to the phenotype of discolored, fragile teeth in the medical literature. Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss.
subset: hposlim_core
xref: SNOMEDCT_US:196286005
xref: UMLS:C0011436
is_a: HP:0010299 ! Abnormal dentin morphology
is_a: HP:3000050 ! Abnormal odontoid tissue morphology

[Term]
id: HP:0000704
name: Periodontitis
alt_id: HP:0000165
alt_id: HP:0006301
def: "Inflammation of the periodontium." [https://orcid.org/0000-0002-9338-3017]
subset: hposlim_core
synonym: "Gum disease" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Periodontal disease" BROAD []
synonym: "Pyorrhea" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:18718003
xref: SNOMEDCT_US:2556008
xref: SNOMEDCT_US:41565005
xref: UMLS:C0017563
xref: UMLS:C0031090
xref: UMLS:C0031099
is_a: HP:0000164 ! Abnormality of the dentition
is_a: HP:0000168 ! Abnormality of the gingiva
is_a: HP:0012649 ! Increased inflammatory response

[Term]
id: HP:0000705
name: Amelogenesis imperfecta
alt_id: HP:0006284
alt_id: HP:0006310
alt_id: HP:0006325
alt_id: HP:0006327
alt_id: HP:0006331
def: "A developmental dysplasia of the dental enamel." [https://orcid.org/0000-0002-9338-3017, PMID:18499550]
comment: Amelogenesis imperfecta (AI) is a term for a clinically and genetically heterogeneous group of diseases that affect the dental enamel, occasionally in conjunction with other dental, oral and extraoral tissues. This term has often been used to describe the phenotype associated with AI, but for new annotations it is recommended to describe the individual manifestations.
subset: hposlim_core
xref: SNOMEDCT_US:78494001
xref: UMLS:C0002452
is_a: HP:0000682 ! Abnormal dental enamel morphology

[Term]
id: HP:0000706
name: Eruption failure
def: "A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential." [https://orcid.org/0000-0002-9338-3017, PMID:31468724]
comment: Usually a tooth erupts at a stage of half or two-thirds of root formation. There are established norms for the timing of eruption and tooth stages in both deciduous and permanent teeth. It may be difficult to discern Delayed eruption from failure of eruption: failure indicates it will never erupt, delayed indicates it may still erupt. Eruption failure may be caused by an isolated obstacle (supernumerary teeth), ankylosis of impacted teeth, or disturbances of biological eruption pathway. Partial or complete non-eruption of not initially ankylosed teeth due to a disturbed eruption mechanism result in a severe form of posterior open bite that usually worsens from anterior to posterior. Eruption failure is usually asymmetrical, affects more posterior teeth and both dentition may be involved. The diagnosis eruption failure requires clinical and radiographic examinations.
synonym: "Failure of eruption of tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Pseudo-anodontia" EXACT []
synonym: "Pseudoanodontia" EXACT []
synonym: "Unerupted dentition" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Unerupted tooth" EXACT layperson []
xref: SNOMEDCT_US:109542004
xref: UMLS:C1290587
is_a: HP:0006292 ! Abnormality of dental eruption

[Term]
id: HP:0000707
name: Abnormality of the nervous system
alt_id: HP:0001333
alt_id: HP:0006987
def: "An abnormality of the nervous system." [https://orcid.org/0000-0002-0736-9199]
comment: The nervous system comprises the neuraxis (brain, spinal cord, and ventricles), the autonomic nervous system, the enteric nervous system, and the peripheral nervous system.
synonym: "Abnormality of the nervous system" EXACT layperson []
synonym: "Brain and/or spinal cord issue" BROAD layperson []
synonym: "Neurologic abnormalities" EXACT layperson []
synonym: "Neurological abnormality" EXACT layperson []
xref: SNOMEDCT_US:88425004
xref: UMLS:C0497552
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0000708
name: Atypical behavior
alt_id: HP:0000715
alt_id: HP:0002368
alt_id: HP:0002456
def: "Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will." []
comment: Atypical behaviors should include or directly affect observable actions. While behavioral disorders often encompass abnormal thoughts, feelings, perceptions, or other cognitions, these alone would not be considered atypical behavioral features.
synonym: "Behavioral abnormality" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Behavioral changes" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Behavioral disorders" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Behavioral disturbances" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Behavioral problems" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Behavioral symptoms" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Behavioral/psychiatric abnormalities" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Behavioural abnormality" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Behavioural changes" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Behavioural disorders" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Behavioural disturbances" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Behavioural problems" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Behavioural symptoms" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Behavioural/Psychiatric abnormality" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Behavioural/psychiatric abnormality" EXACT []
synonym: "Psychiatric disorders" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Psychiatric disturbances" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
xref: SNOMEDCT_US:25786006
xref: SNOMEDCT_US:277843001
xref: UMLS:C0004941
xref: UMLS:C0233514
is_a: HP:0011446 ! Abnormality of mental function
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-0736-9199
property_value: terms:contributor https://orcid.org/0000-0002-4142-7153
property_value: terms:contributor https://orcid.org/0000-0002-4422-1708
property_value: terms:contributor https://orcid.org/0000-0003-3777-1389

[Term]
id: HP:0000709
name: Psychosis
def: "A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis." []
synonym: "Psychosis" EXACT layperson []
xref: SNOMEDCT_US:69322001
xref: UMLS:C0033975
is_a: HP:5200430 ! Abnormal psychotic pattern
property_value: terms:contributor https://orcid.org/0000-0001-7062-8192
property_value: terms:contributor https://orcid.org/0000-0001-7941-2961
property_value: terms:contributor https://orcid.org/0000-0001-9221-9226
property_value: terms:contributor https://orcid.org/0000-0002-0183-1637
property_value: terms:contributor https://orcid.org/0000-0003-1785-7126
property_value: terms:contributor https://orcid.org/0000-0003-2291-6952
property_value: terms:contributor https://orcid.org/0000-0003-4958-6025

[Term]
id: HP:0000710
name: Hyperorality
def: "Hyperorality is a condition characterized by an excessive preoccupation with oral sensations and behaviors, such as chewing, sucking, biting, swallowing, and excessive mouthing of objects." [PMID:29112858]
synonym: "Hyperoralia" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Hyperorality" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Mouthing" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
xref: UMLS:C1838320
is_a: HP:5200065 ! Tactile sensory seeking
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-0736-9199
property_value: terms:contributor https://orcid.org/0000-0002-4142-7153
property_value: terms:contributor https://orcid.org/0000-0002-4422-1708
property_value: terms:contributor https://orcid.org/0000-0003-3777-1389

[Term]
id: HP:0000711
name: Restlessness
def: "A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior." []
synonym: "Fidgetiness" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Restiveness" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
xref: SNOMEDCT_US:162221009
xref: UMLS:C3887611
is_a: HP:5200263 ! Abnormally increased volition
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-0736-9199
property_value: terms:contributor https://orcid.org/0000-0002-1111-7357
property_value: terms:contributor https://orcid.org/0000-0002-4142-7153
property_value: terms:contributor https://orcid.org/0000-0002-4422-1708
property_value: terms:contributor https://orcid.org/0000-0002-7954-5235
property_value: terms:contributor https://orcid.org/0000-0003-2897-0458
property_value: terms:contributor https://orcid.org/0000-0003-3777-1389
property_value: terms:contributor https://orcid.org/0000-0003-4298-5074
property_value: terms:contributor https://orcid.org/0000-0003-4618-6544

[Term]
id: HP:0000712
name: Emotional lability
alt_id: HP:0000720
alt_id: HP:0001575
alt_id: HP:0008766
def: "Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances." []
synonym: "Emotional instability" EXACT layperson []
synonym: "Mood alterations" EXACT []
synonym: "Mood changes" EXACT layperson []
synonym: "Mood lability" EXACT []
synonym: "Mood swings" EXACT layperson []
xref: SNOMEDCT_US:18963009
xref: UMLS:C0085633
is_a: HP:0031466 ! Impairment in personality functioning
is_a: HP:0100851 ! Abnormal emotional state
property_value: terms:contributor https://orcid.org/0000-0002-1111-7357
property_value: terms:contributor https://orcid.org/0000-0002-7954-5235
property_value: terms:contributor https://orcid.org/0000-0003-2897-0458
property_value: terms:contributor https://orcid.org/0000-0003-4298-5074
property_value: terms:contributor https://orcid.org/0000-0003-4618-6544

[Term]
id: HP:0000713
name: Agitation
def: "A state of excessive motor activity that is associated with mental distress or a feeling of substantial unease or inner tension. Distinguished from restlessness by the increased level of emotional distress and negative intensity of the experience. Agitation has a significant level of physical activity that is typically threatening to the self or others." []
synonym: "Psychomotor agitation" EXACT []
xref: SNOMEDCT_US:24199005
xref: UMLS:C0085631
is_a: HP:5200263 ! Abnormally increased volition
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-0736-9199
property_value: terms:contributor https://orcid.org/0000-0002-1111-7357
property_value: terms:contributor https://orcid.org/0000-0002-4142-7153
property_value: terms:contributor https://orcid.org/0000-0002-4422-1708
property_value: terms:contributor https://orcid.org/0000-0002-7954-5235
property_value: terms:contributor https://orcid.org/0000-0003-2897-0458
property_value: terms:contributor https://orcid.org/0000-0003-3777-1389
property_value: terms:contributor https://orcid.org/0000-0003-4298-5074
property_value: terms:contributor https://orcid.org/0000-0003-4618-6544

[Term]
id: HP:0000716
name: Depression
def: "Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior." []
synonym: "Depression" EXACT layperson []
synonym: "Depressive disorder" RELATED []
synonym: "Depressive episode" EXACT []
synonym: "Depressivity" EXACT []
xref: SNOMEDCT_US:21061000119107
xref: SNOMEDCT_US:35489007
xref: SNOMEDCT_US:78667006
xref: UMLS:C0011581
is_a: HP:0000745 ! Abnormal diminished volition
is_a: HP:0100851 ! Abnormal emotional state
property_value: terms:contributor https://orcid.org/0000-0002-1111-7357
property_value: terms:contributor https://orcid.org/0000-0002-7954-5235
property_value: terms:contributor https://orcid.org/0000-0003-2897-0458
property_value: terms:contributor https://orcid.org/0000-0003-4298-5074
property_value: terms:contributor https://orcid.org/0000-0003-4618-6544

[Term]
id: HP:0000717
name: Autism
def: "Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV)." [https://orcid.org/0000-0002-6410-0882]
comment: The term refers to the diagnosis of autism and is left for convenience. However, it is preferable to annotate the exact phenotypic abnormalities rather than merely the diagnostic category autism.
synonym: "Autism" EXACT layperson []
xref: SNOMEDCT_US:408856003
xref: SNOMEDCT_US:408857007
xref: SNOMEDCT_US:43614003
xref: UMLS:C0004352
is_a: HP:0000729 ! Autistic behavior

[Term]
id: HP:0000718
name: Aggressive behavior
alt_id: HP:0006919
def: "Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires)." []
synonym: "Aggression" EXACT layperson []
synonym: "Aggressive behavior" EXACT layperson []
synonym: "Aggressiveness" EXACT layperson []
synonym: "physical aggression" RELATED layperson []
xref: SNOMEDCT_US:248004009
xref: SNOMEDCT_US:61372001
xref: UMLS:C0001807
xref: UMLS:C0424323
xref: UMLS:C1457883
is_a: HP:0000734 ! Disinhibition
property_value: terms:contributor https://orcid.org/0000-0002-1111-7357
property_value: terms:contributor https://orcid.org/0000-0002-7954-5235
property_value: terms:contributor https://orcid.org/0000-0003-2897-0458
property_value: terms:contributor https://orcid.org/0000-0003-4298-5074
property_value: terms:contributor https://orcid.org/0000-0003-4618-6544

[Term]
id: HP:0000719
name: Inappropriate behavior
def: "An explicit or perceived action, demonstration, conduct, or language (verbal and written) that is contrary to generally accepted norms, rules, procedures, or unacceptable within the context in which it is carried out. Inappropriate behaviors could take place in a sexual or social context and could be aggressive, violent, impulsive, intimidating, or threatening in nature." []
synonym: "Inappropriate behavior" EXACT layperson []
synonym: "Inappropriate behaviour" EXACT uk_spelling []
xref: SNOMEDCT_US:112082005
xref: UMLS:C0233522
is_a: HP:5200029 ! Social disinhibition
property_value: terms:contributor https://orcid.org/0000-0002-1111-7357
property_value: terms:contributor https://orcid.org/0000-0002-7954-5235
property_value: terms:contributor https://orcid.org/0000-0003-2897-0458
property_value: terms:contributor https://orcid.org/0000-0003-4298-5074
property_value: terms:contributor https://orcid.org/0000-0003-4618-6544

[Term]
id: HP:0000720
name: obsolete Mood swings
is_obsolete: true
replaced_by: HP:0000712

[Term]
id: HP:0000721
name: Lack of spontaneous play
synonym: "Lack of spontaneous play" EXACT layperson []
xref: UMLS:C1837650
is_a: HP:5200104 ! Abnormal play

[Term]
id: HP:0000722
name: Compulsive behaviors
def: "Behavior that consists of repetitive acts, characterized by the feeling that one \"has to\" perform them, while being aware that these acts are not in line with one's overall goal." []
synonym: "Obsessive compulsive behavior" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Obsessive compulsive behaviour" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Obsessive compulsive disorder" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Obsessive-compulsive behavior" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Obsessive-compulsive behaviour" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Obsessive-compulsive disorder" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "OCD" EXACT abbreviation [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
xref: SNOMEDCT_US:12479006
xref: SNOMEDCT_US:191736004
xref: UMLS:C0028768
xref: UMLS:C0600104
is_a: HP:5200241 ! Recurrent maladaptive behavior
property_value: terms:contributor https://orcid.org/0000-0001-6624-2975
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-0736-9199
property_value: terms:contributor https://orcid.org/0000-0002-2984-1124
property_value: terms:contributor https://orcid.org/0000-0002-4142-7153
property_value: terms:contributor https://orcid.org/0000-0002-4422-1708
property_value: terms:contributor https://orcid.org/0000-0002-4691-7362
property_value: terms:contributor https://orcid.org/0000-0002-6581-7754
property_value: terms:contributor https://orcid.org/0000-0002-7674-1767
property_value: terms:contributor https://orcid.org/0000-0003-2598-6622
property_value: terms:contributor https://orcid.org/0000-0003-3777-1389
property_value: terms:contributor https://orcid.org/0000-0003-4014-4490

[Term]
id: HP:0000723
name: Restrictive behavior
def: "Behavior characterized by an abnormal limitation to a few interests and activities." []
synonym: "Restricted behavior" EXACT []
synonym: "Restricted behaviour" EXACT uk_spelling []
synonym: "Restrictive behavior" EXACT []
synonym: "Restrictive behavior, interests, and activities" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C2675334
xref: UMLS:C4021799
is_a: HP:0031432 ! Restricted or repetitive behaviors or interests

[Term]
id: HP:0000725
name: Psychotic episodes
def: "Periods of time during which an individual experiences significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality. These episodes are hallmark features of psychotic disorders such as schizophrenia, schizoaffective disorder, and certain forms of bipolar disorder." []
synonym: "Psychotic episodes" EXACT layperson []
xref: UMLS:C0338614
is_a: HP:5200430 ! Abnormal psychotic pattern
property_value: terms:contributor https://orcid.org/0000-0001-7062-8192
property_value: terms:contributor https://orcid.org/0000-0001-7941-2961
property_value: terms:contributor https://orcid.org/0000-0001-9221-9226
property_value: terms:contributor https://orcid.org/0000-0002-0183-1637
property_value: terms:contributor https://orcid.org/0000-0003-1785-7126
property_value: terms:contributor https://orcid.org/0000-0003-2291-6952
property_value: terms:contributor https://orcid.org/0000-0003-4958-6025

[Term]
id: HP:0000726
name: Dementia
alt_id: HP:0002274
alt_id: HP:0007122
alt_id: HP:0007150
alt_id: HP:0007283
def: "A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior." [https://orcid.org/0000-0002-0736-9199]
synonym: "Dementia" EXACT layperson []
synonym: "Dementia, progressive" EXACT layperson []
synonym: "Progressive dementia" EXACT layperson []
xref: SNOMEDCT_US:52448006
xref: UMLS:C0497327
is_a: HP:0001268 ! Mental deterioration

[Term]
id: HP:0000727
name: Frontal lobe dementia
xref: SNOMEDCT_US:278857002
xref: UMLS:C0338455
is_a: HP:0000726 ! Dementia

[Term]
id: HP:0000728
name: Impaired ability to form peer relationships
def: "Difficulty to establish relations with others in a comparable social group (peers) that may be manifested in pehnomena such as not being able to initiative a conversation, understand social cues, or to discuss shared interests. This feature is associated with poor integration within a community or group." []
xref: UMLS:C1837649
is_a: HP:0012760 ! Reduced social responsiveness

[Term]
id: HP:0000729
name: Autistic behavior
def: "Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior." [https://orcid.org/0000-0002-0736-9199, PMID:28879490]
comment: This term can be used to refer to autism spectrum disorder as a phenotypic feature that can be a component of a disease. Autism spectrum disorder range from a severe form, called autistic disorder, to a milder form, Asperger syndrome. If possible, we recommend annotating using more specific terms.
synonym: "ASD" EXACT abbreviation []
synonym: "Autism spectrum disorder" RELATED layperson []
synonym: "Autism spectrum disorders" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Autistic behaviors" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Autistic behaviour" EXACT uk_spelling []
synonym: "Autistic behaviours" RELATED uk_spelling []
synonym: "Pervasive developmental disorder" EXACT []
xref: UMLS:C0856975
xref: UMLS:C1510586
is_a: HP:0025783 ! Diagnostic behavioral phenotype

[Term]
id: HP:0000732
name: Inflexible adherence to routines
def: "A need to strictly adhere to repetitive routines or patterns of behavior which are created by the environment. One becomes upset or distressed when their routines are disrupted or altered." []
xref: UMLS:C1837653
is_a: HP:5200130 ! Insistence on sameness
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-0736-9199
property_value: terms:contributor https://orcid.org/0000-0002-4142-7153
property_value: terms:contributor https://orcid.org/0000-0002-4422-1708
property_value: terms:contributor https://orcid.org/0000-0003-3777-1389

[Term]
id: HP:0000733
name: Motor stereotypy
alt_id: HP:0008758
alt_id: HP:0008759
def: "Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose." []
synonym: "Abnormal repetitive mannerism" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Repetitive behavior" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "repetitive behaviour" EXACT uk_spelling []
synonym: "Repetitive behaviour Stereotypic behaviour" EXACT uk_spelling []
synonym: "Repetitive movements" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0001-9114-8737, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Repetitive, stereotypic behavior" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Stereotyped" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Stereotyped behavior" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Stereotyped behaviors" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Stereotyped behaviour" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Stereotyped behaviours" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Stereotypic behaviour" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Stereotypic behaviours" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Stereotypical motor behavior" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Stereotypical motor behaviors" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Stereotypical motor behaviour" EXACT uk_spelling []
synonym: "Stereotypical motor behaviours" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Stimming" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
xref: SNOMEDCT_US:5507002
xref: SNOMEDCT_US:84328007
xref: UMLS:C0038271
xref: UMLS:C0038273
is_a: HP:0031432 ! Restricted or repetitive behaviors or interests
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-0736-9199
property_value: terms:contributor https://orcid.org/0000-0002-4142-7153
property_value: terms:contributor https://orcid.org/0000-0002-4422-1708
property_value: terms:contributor https://orcid.org/0000-0003-3777-1389

[Term]
id: HP:0000734
name: Disinhibition
def: "Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment." []
comment: Disinhibition affects motor, instinctual, emotional, cognitive, and perceptual aspects, exhibiting signs and symptoms similar to the diagnostic criteria for mania. Hypersexuality, hyperphagia, and aggressive outbursts are indicative of disinhibited instinctual drives.
synonym: "Impulse control disorders" EXACT []
synonym: "Lack of self-control" EXACT []
xref: SNOMEDCT_US:247977003
xref: UMLS:C0424296
is_a: HP:5200241 ! Recurrent maladaptive behavior
is_a: HP:5200263 ! Abnormally increased volition
property_value: terms:contributor https://orcid.org/0000-0001-6624-2975
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-0736-9199
property_value: terms:contributor https://orcid.org/0000-0002-2984-1124
property_value: terms:contributor https://orcid.org/0000-0002-4142-7153
property_value: terms:contributor https://orcid.org/0000-0002-4422-1708
property_value: terms:contributor https://orcid.org/0000-0002-4691-7362
property_value: terms:contributor https://orcid.org/0000-0002-6581-7754
property_value: terms:contributor https://orcid.org/0000-0002-7674-1767
property_value: terms:contributor https://orcid.org/0000-0003-2598-6622
property_value: terms:contributor https://orcid.org/0000-0003-3777-1389
property_value: terms:contributor https://orcid.org/0000-0003-4014-4490

[Term]
id: HP:0000735
name: obsolete Impaired social interactions
is_obsolete: true
replaced_by: HP:0012760

[Term]
id: HP:0000736
name: Short attention span
def: "Reduced attention span characterized by distractibility and impulsivity." [PMID:26386541]
synonym: "Easily distracted" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Easy distractibility" EXACT []
synonym: "High distractibility" EXACT []
synonym: "Poor attention span" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Problem paying attention" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Short attention span" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
xref: SNOMEDCT_US:247762003
xref: UMLS:C0262630
is_a: HP:5200044 ! Reduced attention regulation
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-0736-9199
property_value: terms:contributor https://orcid.org/0000-0002-4142-7153
property_value: terms:contributor https://orcid.org/0000-0002-4422-1708
property_value: terms:contributor https://orcid.org/0000-0003-3777-1389

[Term]
id: HP:0000737
name: Irritability
def: "A proneness to anger, i.e., a tendency to become easily bothered or annoyed." []
synonym: "Irritability" EXACT layperson []
synonym: "Irritable" EXACT layperson []
synonym: "Irritable mood" EXACT []
xref: UMLS:C2700617
is_a: HP:0100851 ! Abnormal emotional state
property_value: terms:contributor https://orcid.org/0000-0002-1111-7357
property_value: terms:contributor https://orcid.org/0000-0002-7954-5235
property_value: terms:contributor https://orcid.org/0000-0003-2897-0458
property_value: terms:contributor https://orcid.org/0000-0003-4298-5074
property_value: terms:contributor https://orcid.org/0000-0003-4618-6544

[Term]
id: HP:0000738
name: Hallucinations
def: "Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space." []
synonym: "Hallucination" EXACT layperson []
synonym: "Hallucinations" EXACT layperson []
synonym: "Sensory hallucination" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:7011001
xref: UMLS:C0018524
xref: UMLS:C0235153
is_a: HP:5200423 ! Abnormal experience of reality
property_value: terms:contributor https://orcid.org/0000-0001-7062-8192
property_value: terms:contributor https://orcid.org/0000-0001-7941-2961
property_value: terms:contributor https://orcid.org/0000-0001-9221-9226
property_value: terms:contributor https://orcid.org/0000-0002-0183-1637
property_value: terms:contributor https://orcid.org/0000-0003-1785-7126
property_value: terms:contributor https://orcid.org/0000-0003-2291-6952
property_value: terms:contributor https://orcid.org/0000-0003-4958-6025

[Term]
id: HP:0000739
name: Anxiety
def: "Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control." []
synonym: "Anxiety" EXACT layperson []
synonym: "Anxiety disease" RELATED layperson []
synonym: "Anxiousness" EXACT []
synonym: "Excessive, persistent worry and fear" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:48694002
xref: UMLS:C0003467
xref: UMLS:C4020884
is_a: HP:5200230 ! Maladaptive fear-related cognitions
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-0692-412X
property_value: terms:contributor https://orcid.org/0000-0002-7405-0954
property_value: terms:contributor https://orcid.org/0000-0003-0072-5522
property_value: terms:contributor https://orcid.org/0000-0003-0224-647X
property_value: terms:contributor https://orcid.org/0000-0003-3398-7270
property_value: terms:contributor https://orcid.org/0009-0004-0873-4444

[Term]
id: HP:0000740
name: Episodic paroxysmal anxiety
def: "Recurrent attacks of severe anxiety, which occur without restriction to any particular situation or set of circumstances, are therefore unpredictable." []
comment: An anxiety attack may manifest with one or more of the following symptoms: (i) difficulty breathing; (ii) palpitations; (iii) a feeling of unreality; (iv) pain or tightness in the chest; (v) trembling, dizziness, or feeling unsteady; (vi) sweating; (vii) a feeling of faintness; (viii) a fear of dying; (ix) a feeling of losing control; (x) tingling in hands and feet (paresthesia); (xi) choking or smothering feelings.
xref: UMLS:C1854339
is_a: HP:0000739 ! Anxiety
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-0692-412X
property_value: terms:contributor https://orcid.org/0000-0002-7405-0954
property_value: terms:contributor https://orcid.org/0000-0003-0072-5522
property_value: terms:contributor https://orcid.org/0000-0003-0224-647X
property_value: terms:contributor https://orcid.org/0000-0003-3398-7270
property_value: terms:contributor https://orcid.org/0009-0004-0873-4444

[Term]
id: HP:0000741
name: Apathy
def: "Apathy is a quantitative reduction of interest, motivation and the initiation and persistence of goal-directed behavior, where often the accompanying emotions, thoughts, and social interactions are also diminished. The individual is typically non-reactive to provocations, positive or negative, and appears to not care. Distinguished from lethargy which involves lack of physical or mental energy." []
comment: Apathy may co-occur with lethargy.
synonym: "Lack of feeling, emotion, interest" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Lack of feeling, emotion, interest, motivation, initiation" EXACT []
synonym: "State of indifference" EXACT []
xref: SNOMEDCT_US:20602000
xref: UMLS:C0085632
is_a: HP:0000745 ! Abnormal diminished volition
property_value: terms:contributor https://orcid.org/0000-0002-1111-7357
property_value: terms:contributor https://orcid.org/0000-0002-7954-5235
property_value: terms:contributor https://orcid.org/0000-0003-2897-0458
property_value: terms:contributor https://orcid.org/0000-0003-4298-5074
property_value: terms:contributor https://orcid.org/0000-0003-4618-6544

[Term]
id: HP:0000742
name: Self-mutilation
def: "Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die." [PMID:7754789]
synonym: "Deliberate self-harm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Self mutilation" EXACT layperson []
synonym: "Self-mutilation" EXACT layperson []
xref: SNOMEDCT_US:130968006
xref: UMLS:C0036601
is_a: HP:0100716 ! Self-injurious behavior
property_value: terms:contributor https://orcid.org/0000-0001-6624-2975
property_value: terms:contributor https://orcid.org/0000-0002-2984-1124
property_value: terms:contributor https://orcid.org/0000-0002-4691-7362
property_value: terms:contributor https://orcid.org/0000-0002-6581-7754
property_value: terms:contributor https://orcid.org/0000-0002-7674-1767
property_value: terms:contributor https://orcid.org/0000-0003-2598-6622
property_value: terms:contributor https://orcid.org/0000-0003-4014-4490

[Term]
id: HP:0000743
name: Frontal release signs
alt_id: HP:0006911
def: "Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes." [https://orcid.org/0009-0006-4530-3154]
synonym: "Frontal release reflexes" EXACT []
xref: UMLS:C1833297
is_a: HP:0100022 ! Abnormality of movement

[Term]
id: HP:0000744
name: Low frustration tolerance
def: "The feeling of frustration can be defined as an emotional reaction that occurs when a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration, characterized by crying or temper tantrums in children, or aggressive or other undesirable behaviors." []
synonym: "Intolerance to frustration" EXACT []
xref: UMLS:C0548883
is_a: HP:0031466 ! Impairment in personality functioning
is_a: HP:0100851 ! Abnormal emotional state
property_value: terms:contributor https://orcid.org/0000-0002-1111-7357
property_value: terms:contributor https://orcid.org/0000-0002-7954-5235
property_value: terms:contributor https://orcid.org/0000-0003-2897-0458
property_value: terms:contributor https://orcid.org/0000-0003-4298-5074
property_value: terms:contributor https://orcid.org/0000-0003-4618-6544

[Term]
id: HP:0000745
name: Abnormal diminished volition
def: "A reduction in willful and motivated goal-directed behavior that is considered the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action." []
synonym: "Diminished energy" EXACT []
synonym: "Diminished motivation" EXACT layperson []
synonym: "Diminished volitional state" EXACT []
synonym: "Lack of initiative" EXACT layperson []
synonym: "Lack of motivation" EXACT layperson []
synonym: "Lacking in initiative" EXACT layperson []
synonym: "Lacks initiative" EXACT layperson []
xref: SNOMEDCT_US:277521002
xref: UMLS:C0456814
is_a: HP:0025780 ! Abnormal volitional state
property_value: terms:contributor https://orcid.org/0000-0002-1111-7357
property_value: terms:contributor https://orcid.org/0000-0002-7954-5235
property_value: terms:contributor https://orcid.org/0000-0003-2897-0458
property_value: terms:contributor https://orcid.org/0000-0003-4298-5074
property_value: terms:contributor https://orcid.org/0000-0003-4618-6544

[Term]
id: HP:0000746
name: Delusion
def: "A delusion is a fixed false belief held despite evidence to the contrary. The term delusion broadly encompasses all false judgments that possess the following external characteristics to a significant, albeit unspecified, extent: (1) they are held with an exceptional level of conviction, accompanied by an unparalleled subjective certainty; (2) there is an inability to consider alternative experiences or compelling counter-arguments; (3) the content of the belief is impossible." []
synonym: "Delusions" EXACT layperson []
xref: SNOMEDCT_US:2073000
xref: UMLS:C0011253
is_a: HP:0025779 ! Disorder of thought content
is_a: HP:5200401 ! Abnormal judgment
property_value: terms:contributor https://orcid.org/0000-0001-7062-8192
property_value: terms:contributor https://orcid.org/0000-0001-7941-2961
property_value: terms:contributor https://orcid.org/0000-0001-9221-9226
property_value: terms:contributor https://orcid.org/0000-0002-0183-1637
property_value: terms:contributor https://orcid.org/0000-0003-1785-7126
property_value: terms:contributor https://orcid.org/0000-0003-2291-6952
property_value: terms:contributor https://orcid.org/0000-0003-4958-6025

[Term]
id: HP:0000748
name: Inappropriate laughter
def: "Laughing that may be excessive and/or inappropriate in context (e.g., laughing at a funeral while others are crying)." []
synonym: "Inappropriate laughter" EXACT layperson []
xref: SNOMEDCT_US:247985007
xref: UMLS:C0424304
is_a: HP:5200029 ! Social disinhibition
property_value: terms:contributor https://orcid.org/0000-0002-1111-7357
property_value: terms:contributor https://orcid.org/0000-0002-7954-5235
property_value: terms:contributor https://orcid.org/0000-0003-2897-0458
property_value: terms:contributor https://orcid.org/0000-0003-4298-5074
property_value: terms:contributor https://orcid.org/0000-0003-4618-6544

[Term]
id: HP:0000749
name: Paroxysmal bursts of laughter
synonym: "Paroxysmal laughter" EXACT []
xref: UMLS:C1839749
is_a: HP:0000748 ! Inappropriate laughter

[Term]
id: HP:0000750
name: Delayed speech and language development
alt_id: HP:0002116
alt_id: HP:0002117
alt_id: HP:0002336
alt_id: HP:0002399
alt_id: HP:0002498
alt_id: HP:0006936
alt_id: HP:0007004
alt_id: HP:0007127
alt_id: HP:0007170
alt_id: HP:0007172
def: "A degree of language development that is significantly below the norm for a child of a specified age." [https://orcid.org/0000-0002-0736-9199]
comment: Language delay can be characterized by a failure to meet the developmental milestones for language development, an inability to follow directions, or slow or incomprehensible speech after the age of three years, as well as with severe problems with syntax or articulation.
synonym: "Deficiency of speech development" EXACT layperson []
synonym: "Delayed language development" EXACT layperson []
synonym: "Delayed speech" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Delayed speech acquisition" EXACT layperson []
synonym: "Delayed speech and language development" EXACT layperson []
synonym: "Delayed speech development" EXACT layperson []
synonym: "Impaired speech and language development" EXACT layperson []
synonym: "Impaired speech development" EXACT layperson []
synonym: "Language delay" EXACT layperson []
synonym: "Language delayed" EXACT layperson []
synonym: "Language development deficit" EXACT layperson []
synonym: "Late-onset speech development" EXACT layperson []
synonym: "Poor language development" EXACT layperson []
synonym: "Poor speech acquisition" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Poor speech development" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Speech and language delay" EXACT layperson []
synonym: "Speech and language difficulties" EXACT layperson []
synonym: "Speech delay" EXACT layperson []
synonym: "Speech difficulties" RELATED layperson []
xref: SNOMEDCT_US:162294008
xref: SNOMEDCT_US:229721007
xref: SNOMEDCT_US:29164008
xref: SNOMEDCT_US:62415009
xref: UMLS:C0023012
xref: UMLS:C0233715
xref: UMLS:C0241210
xref: UMLS:C0454644
is_a: HP:0002167 ! Abnormal speech pattern
is_a: HP:0002463 ! Language impairment
is_a: HP:0012758 ! Neurodevelopmental delay

[Term]
id: HP:0000751
name: Personality changes
def: "An abnormal shift in patterns of thinking, acting, or feeling." []
comment: This term refers to changes in personality that are perceived as abnormal. It does not refer to the usual gradual personality changes that tend to accompany aging and certain life situations.
synonym: "Personality change" EXACT layperson []
synonym: "Personality changes" EXACT layperson []
xref: SNOMEDCT_US:102943000
xref: SNOMEDCT_US:192073007
xref: UMLS:C0240735
is_a: HP:0031466 ! Impairment in personality functioning
property_value: terms:contributor https://orcid.org/0000-0002-1111-7357
property_value: terms:contributor https://orcid.org/0000-0002-7954-5235
property_value: terms:contributor https://orcid.org/0000-0003-2897-0458
property_value: terms:contributor https://orcid.org/0000-0003-4298-5074
property_value: terms:contributor https://orcid.org/0000-0003-4618-6544

[Term]
id: HP:0000752
name: Hyperactivity
alt_id: HP:0008764
def: "Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate." []
synonym: "Hyperactive behavior" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Hyperactive behaviour" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Hyperkinetic disorder" EXACT []
synonym: "hyperkinetic disorder" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "More active than typical" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0002-6548-5200, https://orcid.org/0000-0003-3777-1389]
xref: SNOMEDCT_US:44548000
xref: UMLS:C0424295
is_a: HP:0000734 ! Disinhibition
property_value: terms:contributor https://orcid.org/0000-0001-6624-2975
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-0736-9199
property_value: terms:contributor https://orcid.org/0000-0002-2984-1124
property_value: terms:contributor https://orcid.org/0000-0002-4142-7153
property_value: terms:contributor https://orcid.org/0000-0002-4422-1708
property_value: terms:contributor https://orcid.org/0000-0002-4691-7362
property_value: terms:contributor https://orcid.org/0000-0002-6581-7754
property_value: terms:contributor https://orcid.org/0000-0002-7674-1767
property_value: terms:contributor https://orcid.org/0000-0003-2598-6622
property_value: terms:contributor https://orcid.org/0000-0003-3777-1389
property_value: terms:contributor https://orcid.org/0000-0003-4014-4490

[Term]
id: HP:0000753
name: Autism with high cognitive abilities
xref: UMLS:C4025832
is_a: HP:0000729 ! Autistic behavior

[Term]
id: HP:0000756
name: Agoraphobia
def: "A type of anxiety disorder characterized by the avoidance of public places, especially where crowds gather." []
synonym: "Fear of open spaces" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:247830007
xref: SNOMEDCT_US:70691001
xref: UMLS:C0001818
is_a: HP:5200232 ! Phobia
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-0692-412X
property_value: terms:contributor https://orcid.org/0000-0002-7405-0954
property_value: terms:contributor https://orcid.org/0000-0003-0072-5522
property_value: terms:contributor https://orcid.org/0000-0003-0224-647X
property_value: terms:contributor https://orcid.org/0000-0003-3398-7270
property_value: terms:contributor https://orcid.org/0009-0004-0873-4444

[Term]
id: HP:0000757
name: Lack of insight
def: "Lack of insight (Anosognosia) is a neurological condition in which an individual is unaware of his or her own neurological deficit or psychiatric condition. Anosognosia can be associated with mental illness, dementia, and structural brain lesions and can affect an individual's conscious awareness of deficits involving judgment, emotions, memory, executive function, language skills, and motor ability." []
comment: Reduced insight distinguishes itself from other misconceptions of reality by typically stemming not from the presence of false beliefs or hallucinations, but rather from a deficiency in the cognitive capacity needed to accurately comprehend one's environment.
synonym: "Anosognosia" EXACT []
synonym: "Lack of insight" EXACT layperson []
xref: SNOMEDCT_US:24340004
xref: UMLS:C0233824
is_a: HP:5200401 ! Abnormal judgment

[Term]
id: HP:0000758
name: Abnormal nonverbal communicative behavior
def: "Abnormalities in eye contact, communicative facial expressions, gesture use, or the use of others' bodies to communicate convey shared meanings within a culture that replace or supplement verbal communication." []
synonym: "Abnormal nonverbal communicative behavior" EXACT []
synonym: "Impaired use of nonverbal behaviors" EXACT layperson [https://orcid.org/0000-0001-9112-5148, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-6670-9157, https://orcid.org/0000-0002-9593-5508]
synonym: "Impaired use of nonverbal behaviours" EXACT uk_spelling [https://orcid.org/0000-0001-9112-5148, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-6670-9157, https://orcid.org/0000-0002-9593-5508]
xref: UMLS:C4021798
is_a: HP:0034434 ! Abnormal communication
property_value: terms:contributor https://orcid.org/0000-0001-5395-5036
property_value: terms:contributor https://orcid.org/0000-0001-6886-767X
property_value: terms:contributor https://orcid.org/0000-0001-8423-2623
property_value: terms:contributor https://orcid.org/0000-0001-9112-5148
property_value: terms:contributor https://orcid.org/0000-0001-9114-8737
property_value: terms:contributor https://orcid.org/0000-0002-0375-6247
property_value: terms:contributor https://orcid.org/0000-0002-2414-5605
property_value: terms:contributor https://orcid.org/0000-0002-4142-7153
property_value: terms:contributor https://orcid.org/0000-0002-4487-3589
property_value: terms:contributor https://orcid.org/0000-0002-6670-9157
property_value: terms:contributor https://orcid.org/0000-0002-9593-5508

[Term]
id: HP:0000759
name: Abnormal peripheral nervous system morphology
alt_id: HP:0003483
def: "A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system)." [https://orcid.org/0000-0002-0736-9199]
comment: The peripheral nervous system is divided into autonomic and somatic components, which both include afferent (sensory) and efferent (motor) nerves.
synonym: "Abnormal peripheral nervous system structure" EXACT layperson []
synonym: "Peripheral nervous system disease" RELATED []
xref: SNOMEDCT_US:302226006
xref: SNOMEDCT_US:42658009
xref: UMLS:C0031117
xref: UMLS:C4025831
is_a: HP:0012639 ! Abnormal nervous system morphology

[Term]
id: HP:0000762
name: Decreased nerve conduction velocity
alt_id: HP:0000761
alt_id: HP:0007118
alt_id: HP:0007218
alt_id: HP:0007231
def: "A reduction in the speed at which electrical signals propagate along the axon of a neuron." [https://orcid.org/0000-0002-0736-9199]
comment: Nerve conduction velocity is usually measured with surface electrodes placed on the skin over nerves at various locations. Following stimulation at one electrode, the speed at which the signal is propagated to other electrodes is recorded. Abnormal values may suggest demyelination, a conduction block, or axonopathy.
synonym: "Decreased NCV" EXACT []
synonym: "Decreased nerve conduction velocities" EXACT []
synonym: "Delayed nerve conduction velocity" EXACT []
synonym: "Reduced nerve conduction velocities" EXACT []
synonym: "Slow nerve conduction velocity" EXACT []
synonym: "Slowed nerve conduction velocities" EXACT []
xref: UMLS:C1857640
is_a: HP:0040129 ! Abnormal nerve conduction velocity

[Term]
id: HP:0000763
name: Sensory neuropathy
alt_id: HP:0003410
alt_id: HP:0006815
alt_id: HP:0007043
alt_id: HP:0007142
def: "Peripheral neuropathy affecting the sensory nerves." [https://orcid.org/0000-0002-0736-9199]
synonym: "Damage to nerves that sense feeling" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Peripheral sensory neuropathy" EXACT []
xref: SNOMEDCT_US:95662005
xref: UMLS:C0151313
is_a: HP:0009830 ! Peripheral neuropathy

[Term]
id: HP:0000764
name: Peripheral axonal degeneration
alt_id: HP:0006787
alt_id: HP:0006876
alt_id: HP:0007304
def: "Progressive deterioration of peripheral axons." [https://orcid.org/0000-0002-0736-9199]
comment: This finding is typically demonstrated by nerve biopsy.
xref: UMLS:C4025830
is_a: HP:0000759 ! Abnormal peripheral nervous system morphology

[Term]
id: HP:0000765
name: Abnormal thorax morphology
alt_id: HP:0100655
def: "Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the chest" EXACT layperson []
synonym: "Abnormality of the thorax" EXACT []
synonym: "Structural abnormality of the chest wall" EXACT []
xref: UMLS:C4021797
is_a: HP:0009121 ! Abnormal axial skeleton morphology

[Term]
id: HP:0000766
name: Abnormal sternum morphology
alt_id: HP:0000780
alt_id: HP:0006586
alt_id: HP:0006594
alt_id: HP:0006605
alt_id: HP:0006630
alt_id: HP:0006708
def: "An anomaly of the sternum, also known as the breastbone." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the sternum" EXACT layperson []
synonym: "Pectus carinatum or pectus excavatum" EXACT []
synonym: "Pectus deformities" EXACT []
synonym: "Pectus deformity" EXACT []
synonym: "Pectus excavatum or carinatum" EXACT []
synonym: "Pectus excavatum or pectus carinatum" EXACT []
synonym: "Pectus excavatum/carinatum" EXACT []
synonym: "Sternal anomalies" EXACT layperson []
xref: UMLS:C1860493
is_a: HP:0000765 ! Abnormal thorax morphology

[Term]
id: HP:0000767
name: Pectus excavatum
alt_id: HP:0006613
alt_id: HP:0006617
def: "A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Funnel chest" EXACT layperson []
xref: SNOMEDCT_US:391987005
xref: UMLS:C2051831
is_a: HP:0000766 ! Abnormal sternum morphology

[Term]
id: HP:0000768
name: Pectus carinatum
alt_id: HP:0006639
def: "A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Pigeon chest" EXACT layperson [https://en.wikipedia.org/wiki/pectus_carinatum, https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:205101001
xref: UMLS:C0158731
is_a: HP:0000766 ! Abnormal sternum morphology

[Term]
id: HP:0000769
name: Abnormality of the breast
def: "An abnormality of the breast." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the breast" EXACT layperson []
xref: UMLS:C4025829
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0000771
name: Gynecomastia
alt_id: HP:0000770
def: "Abnormal development of large mammary glands in males resulting in breast enlargement." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Enlarged male breast" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Gynaecomastia" EXACT []
xref: SNOMEDCT_US:4754008
xref: UMLS:C0018418
is_a: HP:0031093 ! Abnormal breast morphology

[Term]
id: HP:0000772
name: Abnormal rib morphology
alt_id: HP:0006618
def: "An anomaly of the rib." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the ribs" EXACT layperson []
synonym: "Rib abnormalities" EXACT layperson []
synonym: "Rib anomalies" EXACT []
xref: UMLS:C1842083
is_a: HP:0001547 ! Abnormal rib cage morphology

[Term]
id: HP:0000773
name: Short ribs
alt_id: HP:0000899
alt_id: HP:0000908
alt_id: HP:0009750
def: "Reduced rib length." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic ribs" EXACT []
synonym: "Rib hypoplasia" EXACT []
synonym: "Short ribs" EXACT layperson []
xref: SNOMEDCT_US:249696007
xref: UMLS:C0426817
is_a: HP:0006712 ! Aplasia/Hypoplasia of the ribs

[Term]
id: HP:0000774
name: Narrow chest
alt_id: HP:0000909
alt_id: HP:0005252
alt_id: HP:0006588
def: "Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder." [https://orcid.org/0000-0002-0736-9199]
synonym: "Low chest circumference" EXACT layperson []
synonym: "Narrow chest" EXACT layperson []
synonym: "Narrow shoulders" EXACT layperson []
synonym: "Narrow thorax" EXACT []
synonym: "Reduced anterior-posterior chest diameter" EXACT []
xref: SNOMEDCT_US:249671009
xref: UMLS:C0426790
is_a: HP:0005257 ! Thoracic hypoplasia

[Term]
id: HP:0000775
name: Abnormality of the diaphragm
alt_id: HP:0005204
def: "Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the diaphragm" EXACT layperson []
synonym: "Diaphragm issues" EXACT layperson []
synonym: "Diaphragmatic defect" EXACT layperson []
xref: UMLS:C1848873
is_a: HP:0011805 ! Abnormal skeletal muscle morphology

[Term]
id: HP:0000776
name: Congenital diaphragmatic hernia
alt_id: HP:0006604
def: "The presence of a hernia of the diaphragm present at birth." [https://orcid.org/0000-0002-0736-9199]
comment: Diaphragmatic hernia is the result of a developmental defect causing an abnormal opening in the diaphragm, through which abdominal organs (stomach, spleen, liver, and intestines) can protrude into the thoracic cavity. This usually causes respiratory distress in the newborn period.
synonym: "Diaphragmatic hernia" EXACT []
xref: SNOMEDCT_US:17190001
xref: UMLS:C0235833
is_a: HP:0000775 ! Abnormality of the diaphragm
is_a: HP:0100790 ! Hernia

[Term]
id: HP:0000777
name: Abnormal thymus morphology
def: "Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the thymus" EXACT layperson []
xref: SNOMEDCT_US:93297002
xref: UMLS:C0262650
xref: UMLS:C0685891
is_a: HP:0000818 ! Abnormality of the endocrine system
is_a: HP:0100763 ! Abnormality of the lymphatic system

[Term]
id: HP:0000778
name: Hypoplasia of the thymus
def: "Underdevelopment of the thymus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small thymus" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Thymic hypoplasia" EXACT []
synonym: "Thymus hypoplasia" EXACT []
xref: SNOMEDCT_US:93297002
xref: UMLS:C0685891
xref: UMLS:C4228227
is_a: HP:0010515 ! Aplasia/Hypoplasia of the thymus

[Term]
id: HP:0000782
name: Abnormal scapula morphology
def: "Any abnormality of the scapula, also known as the shoulder blade." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the shoulder blade" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025828
is_a: HP:0000765 ! Abnormal thorax morphology

[Term]
id: HP:0000786
name: Primary amenorrhea
xref: SNOMEDCT_US:8913004
xref: UMLS:C0232939
is_a: HP:0000141 ! Amenorrhea

[Term]
id: HP:0000787
name: Nephrolithiasis
alt_id: HP:0000102
def: "The presence of calculi (stones) in the kidneys." [https://orcid.org/0000-0002-0736-9199]
comment: Urinary stone disease is caused by supersaturation of the urine by stone forming substances including calcium, oxalate, and uric acid. Crystals or foreign bodies can act as a nidus for further stone formation. The resulting kidney stones (calculi) lead to symptoms if they become impacted in the ureter.
synonym: "Kidney stones" EXACT layperson []
synonym: "Renal calculi" EXACT []
synonym: "Renal stones" EXACT []
xref: UMLS:C0392525
is_a: HP:0012210 ! Abnormal renal morphology

[Term]
id: HP:0000789
name: Infertility
synonym: "Infertility" EXACT layperson []
xref: SNOMEDCT_US:15296000
xref: SNOMEDCT_US:8619003
xref: UMLS:C0021359
is_a: HP:0000144 ! Decreased fertility

[Term]
id: HP:0000790
name: Hematuria
def: "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Blood in urine" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "High urine occult blood" BROAD layperson []
xref: SNOMEDCT_US:34436003
xref: SNOMEDCT_US:53298000
xref: UMLS:C0018965
is_a: HP:0012211 ! Abnormal renal physiology
is_a: HP:0012614 ! Abnormal urine cytology

[Term]
id: HP:0000791
name: Uric acid nephrolithiasis
def: "The presence of uric acid-containing calculi (stones) in the kidneys." [https://orcid.org/0000-0002-0736-9199]
synonym: "Uric acid stones" EXACT layperson []
synonym: "Uric acid urolithiasis" EXACT []
xref: SNOMEDCT_US:267441009
xref: UMLS:C0403719
is_a: HP:0000787 ! Nephrolithiasis

[Term]
id: HP:0000793
name: Membranoproliferative glomerulonephritis
def: "A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity" [PMID:19908070]
synonym: "Mesangiocapillary glomerulonephritis" EXACT []
synonym: "MPGN" EXACT abbreviation []
xref: SNOMEDCT_US:80321008
xref: UMLS:C0017662
is_a: HP:0000099 ! Glomerulonephritis

[Term]
id: HP:0000794
name: IgA deposition in the glomerulus
def: "The presence of immunoglobulin A deposits in the glomerulus." [HPO_CONTRIBUTOR:Eurenomics_ewuehl]
synonym: "IgA nephropathy" RELATED []
xref: SNOMEDCT_US:236407003
xref: SNOMEDCT_US:68779003
xref: UMLS:C0017661
xref: UMLS:C4025827
is_a: HP:0030949 ! Glomerular deposits

[Term]
id: HP:0000795
name: Abnormality of the urethra
def: "An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body." [https://orcid.org/0000-0002-0736-9199]
synonym: "Urethra issue" EXACT layperson []
xref: UMLS:C4025826
is_a: HP:0010936 ! Abnormality of the lower urinary tract

[Term]
id: HP:0000796
name: Urethral obstruction
def: "Obstruction of the flow of urine through the urethra." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:95588004
xref: UMLS:C0041972
is_a: HP:0000795 ! Abnormality of the urethra

[Term]
id: HP:0000798
name: Oligozoospermia
def: "Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen." [https://orcid.org/0000-0002-0736-9199]
synonym: "Low sperm count" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Oligospermia" EXACT []
xref: UMLS:C0028960
is_a: HP:0008669 ! Abnormal spermatogenesis

[Term]
id: HP:0000799
name: Renal steatosis
def: "Abnormal fat accumulation in the kidneys." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fatty kidney" EXACT layperson []
xref: UMLS:C4021796
is_a: HP:0012210 ! Abnormal renal morphology

[Term]
id: HP:0000800
name: Cystic renal dysplasia
alt_id: HP:0008737
synonym: "Bilateral cystic dysplasia" EXACT []
synonym: "Renal cystic dysplasia" EXACT []
synonym: "Renal dysplasia, cystic" EXACT []
xref: UMLS:C1834931
is_a: HP:0000107 ! Renal cyst

[Term]
id: HP:0000802
name: Impotence
def: "Inability to develop or maintain an erection of the penis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Difficulty getting a full erection" EXACT layperson []
synonym: "Difficulty getting an erection" EXACT layperson []
xref: SNOMEDCT_US:397803000
xref: UMLS:C0242350
is_a: HP:0100639 ! Erectile dysfunction

[Term]
id: HP:0000803
name: Renal cortical cysts
def: "Cysts of the cortex of the kidney." [HPO_CONTRIBUTOR:Eurenomics_fschaefer]
synonym: "Cortical cysts" EXACT []
xref: UMLS:C1969144
is_a: HP:0000107 ! Renal cyst
is_a: HP:0011035 ! Abnormal renal cortex morphology

[Term]
id: HP:0000804
name: Xanthine nephrolithiasis
def: "The presence of xanthine-containing calculi (stones) in the kidneys." [https://orcid.org/0000-0002-0736-9199]
synonym: "Urinary xanthine stones" EXACT []
synonym: "Xanthine stones" EXACT []
xref: UMLS:C1848431
is_a: HP:0000787 ! Nephrolithiasis

[Term]
id: HP:0000805
name: Enuresis
def: "Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible." [https://orcid.org/0009-0006-4530-3154]
xref: SNOMEDCT_US:8009008
xref: UMLS:C0014394
is_a: HP:0000009 ! Functional abnormality of the bladder

[Term]
id: HP:0000807
name: Glanular hypospadias
def: "A type of hypospadias in which the urethral meatus is located at the head of the penis, but not all the way at the tip." [PMID:28190103]
comment: Glanular hypospadias is the mildest form of hypospadias.
synonym: "Balanic hypospadias" EXACT []
xref: SNOMEDCT_US:204891000
xref: SNOMEDCT_US:429631000124104
xref: UMLS:C0452168
is_a: HP:0003244 ! Penile hypospadias

[Term]
id: HP:0000808
name: Penoscrotal hypospadias
def: "A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:204889008
xref: UMLS:C0452147
is_a: HP:0000047 ! Hypospadias

[Term]
id: HP:0000809
name: Urinary tract atresia
def: "Congenital absence of the normal opening of a structure of the urinary tract." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1389003
is_a: HP:0000079 ! Abnormality of the urinary system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-27T04:07:00Z

[Term]
id: HP:0000811
name: Abnormal external genitalia morphology
def: "A structural anomaly of the external genitalia." []
synonym: "Abnormal external genitalia" EXACT layperson []
xref: UMLS:C4025825
is_a: HP:0012243 ! Abnormal reproductive system morphology

[Term]
id: HP:0000812
name: Abnormal internal genitalia
def: "An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal internal genitalia" EXACT layperson []
xref: UMLS:C4025824
is_a: HP:0012243 ! Abnormal reproductive system morphology

[Term]
id: HP:0000813
name: Bicornuate uterus
alt_id: HP:0008735
def: "The presence of a bicornuate uterus." [https://orcid.org/0000-0002-0736-9199]
comment: Uterus with two horn-shaped branches.
synonym: "Heart shaped uterus" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Heart-shaped uterus" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Uterus bicornis" EXACT []
xref: SNOMEDCT_US:31401003
xref: UMLS:C0266387
is_a: HP:0031105 ! Abnormal uterus morphology

[Term]
id: HP:0000815
name: Hypergonadotropic hypogonadism
alt_id: HP:0008679
def: "Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypergonadotrophic hypogonadism" EXACT []
synonym: "Primary hypogonadism" EXACT []
xref: SNOMEDCT_US:370999003
xref: UMLS:C0948896
is_a: HP:0000135 ! Hypogonadism

[Term]
id: HP:0000816
name: Abnormality of Krebs cycle metabolism
def: "An abnormality of the tricarboxylic acid cycle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of citric acid cycle" EXACT [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the tricarboxylic cycle" EXACT []
xref: UMLS:C4021795
is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-17T12:58:00Z

[Term]
id: HP:0000817
name: Reduced eye contact
def: "A reduced frequency or duration of eye contact." []
comment: Eye contact, defined as the meeting of the gaze between two people during a conversation, is an important form of nonverbal communication.
synonym: "Poor eye contact" EXACT layperson [https://orcid.org/0000-0001-9112-5148, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-6670-9157, https://orcid.org/0000-0002-9593-5508]
xref: SNOMEDCT_US:412786000
xref: UMLS:C1445953
is_a: HP:0034435 ! Abnormal eye contact
property_value: terms:contributor https://orcid.org/0000-0001-9112-5148
property_value: terms:contributor https://orcid.org/0000-0002-4142-7153
property_value: terms:contributor https://orcid.org/0000-0002-6670-9157
property_value: terms:contributor https://orcid.org/0000-0002-9593-5508

[Term]
id: HP:0000818
name: Abnormality of the endocrine system
def: "An abnormality of the endocrine system." [https://orcid.org/0000-0002-0736-9199]
comment: The endocrine system is composed of glands that secrete hormones directly into the bloodstream and includes the following glands: thyroid, parathyroids, adrenals, pancreas, gonads (testicles and ovaries), and pituitary. Many other organs, such as the kidney, liver, and heart, have secondary endocrine functions.
synonym: "Endocrine system disease" RELATED []
xref: SNOMEDCT_US:362969004
xref: UMLS:C0014130
xref: UMLS:C4025823
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0000819
name: Diabetes mellitus
alt_id: HP:0004908
alt_id: HP:0008217
alt_id: HP:0008234
alt_id: HP:0008260
def: "A group of abnormalities characterized by hyperglycemia and glucose intolerance." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:73211009
xref: UMLS:C0011849
is_a: HP:0000818 ! Abnormality of the endocrine system
is_a: HP:0001952 ! Glucose intolerance

[Term]
id: HP:0000820
name: Abnormality of the thyroid gland
def: "An abnormality of the thyroid gland." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the thyroid gland" EXACT layperson []
synonym: "Thyroid abnormality" EXACT layperson []
synonym: "Thyroid disease" RELATED layperson []
xref: SNOMEDCT_US:14304000
xref: UMLS:C0040128
is_a: HP:0000818 ! Abnormality of the endocrine system

[Term]
id: HP:0000821
name: Hypothyroidism
alt_id: HP:0003222
alt_id: HP:0008203
def: "Deficiency of thyroid hormone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Low T4" EXACT []
synonym: "Underactive thyroid" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:40930008
xref: UMLS:C0020676
is_a: HP:0002926 ! Abnormality of thyroid physiology

[Term]
id: HP:0000822
name: Hypertension
alt_id: HP:0004949
alt_id: HP:0005126
def: "The presence of chronic increased pressure in the systemic arterial system." [https://orcid.org/0000-0002-0736-9199]
comment: Hypertension is sustained elevation of resting systolic BP (140 mm Hg or higher), diastolic BP (90 mm Hg or higher), or both.
synonym: "Arterial hypertension" EXACT []
synonym: "High blood pressure" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Systemic hypertension" EXACT []
xref: SNOMEDCT_US:24184005
xref: SNOMEDCT_US:38341003
xref: UMLS:C0020538
xref: UMLS:C0497247
is_a: HP:0032263 ! Increased blood pressure

[Term]
id: HP:0000823
name: Delayed puberty
alt_id: HP:0008859
alt_id: HP:0010466
alt_id: HP:0010467
def: "Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty." [https://orcid.org/0000-0002-0736-9199]
comment: The age at which delayed puberty may be diagnosed in a person without signs of secondary sexual development is 13 years in a girl or 14 years in a boy.
synonym: "Delayed pubertal development" EXACT layperson []
synonym: "Delayed pubertal growth" EXACT layperson []
synonym: "Delayed puberty" EXACT layperson []
synonym: "Pubertal delay" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:123526007
xref: SNOMEDCT_US:400003000
xref: UMLS:C0034012
is_a: HP:0001510 ! Growth delay
is_a: HP:0008373 ! Puberty and gonadal disorders

[Term]
id: HP:0000824
name: Decreased response to growth hormone stimulation test
alt_id: HP:0000861
alt_id: HP:0008195
alt_id: HP:0008206
def: "Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests." [https://orcid.org/0000-0002-0736-9199, PMID:25914878]
comment: GH stimulation tests are performed with various stimuli, such as insulin, L-dopa, arginine, and growth hormone releasing hormone (GHRH). The test using insulin as a stimulus is classically recommended, but this test has potential risks such as hypoglycemia. The effects of growth hormone are mediated almost exclusively by insulin-like growth factor 1(IGF-1), which is produced primarily in the liver. Growth hormone deficiency refers to inadequate levels of GH (and therefore IGF-1), resulting in growth retardation in children and metabolic disturbances in adults.
xref: SNOMEDCT_US:2109003
xref: UMLS:C3714796
is_a: HP:0000830 ! Anterior hypopituitarism
is_a: HP:0031073 ! Abnormal response to endocrine stimulation test

[Term]
id: HP:0000825
name: Hyperinsulinemic hypoglycemia
def: "An increased concentration of insulin combined with a decreased concentration of glucose in the blood." [https://orcid.org/0000-0002-0736-9199]
comment: Hyperinsulinemic hypoglycemia describes a situation in which the level of insulin is inappropriate for the low level of blood sugar.
synonym: "Hyperinsulinaemic hypoglycaemia" EXACT []
synonym: "Hyperinsulinemia hypoglycemia" EXACT []
xref: UMLS:C1864903
is_a: HP:0000842 ! Hyperinsulinemia

[Term]
id: HP:0000826
name: Precocious puberty
def: "The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys." [https://orcid.org/0000-0002-0736-9199]
synonym: "Early onset of puberty" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Early puberty" EXACT layperson []
xref: SNOMEDCT_US:123527003
xref: SNOMEDCT_US:400179000
xref: UMLS:C0034013
is_a: HP:0100000 ! Early onset of sexual maturation

[Term]
id: HP:0000828
name: Abnormality of the parathyroid gland
def: "An abnormality of the parathyroid gland." [https://orcid.org/0000-0002-0736-9199]
comment: There are four parathyroid glands, which are small endocrine glands located in the neck behind the thyroid gland that produce parathyroid hormone.
synonym: "Parathyroid disease" RELATED []
xref: SNOMEDCT_US:73132005
xref: UMLS:C0030517
xref: UMLS:C4025822
is_a: HP:0000818 ! Abnormality of the endocrine system

[Term]
id: HP:0000829
name: Hypoparathyroidism
alt_id: HP:0000856
alt_id: HP:0008292
def: "A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased parathyroid hormone secretion" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Low parathyroid hormone" EXACT []
xref: SNOMEDCT_US:36976004
xref: UMLS:C0020626
is_a: HP:0011767 ! Abnormality of the parathyroid physiology

[Term]
id: HP:0000830
name: Anterior hypopituitarism
def: "A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025821
is_a: HP:0040075 ! Hypopituitarism

[Term]
id: HP:0000831
name: Insulin-resistant diabetes mellitus
def: "A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels." [https://orcid.org/0000-0002-0736-9199, PMID:7706500]
synonym: "Insulin resistant diabetes" EXACT layperson []
synonym: "Insulin resistant diabetes mellitus" EXACT []
synonym: "Insulin-resistant diabetes" EXACT layperson []
xref: UMLS:C0854110
is_a: HP:0000819 ! Diabetes mellitus
is_a: HP:0000855 ! Insulin resistance

[Term]
id: HP:0000832
name: Primary hypothyroidism
def: "A type of hypothyroidism that results from a defect in the thyroid gland." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:111566002
xref: UMLS:C0700502
is_a: HP:0000821 ! Hypothyroidism

[Term]
id: HP:0000833
name: obsolete Glucose intolerance
is_obsolete: true
replaced_by: HP:0001952

[Term]
id: HP:0000834
name: Abnormality of the adrenal glands
def: "Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys." [https://orcid.org/0000-0002-0736-9199]
synonym: "Adrenal abnormalities" EXACT layperson []
synonym: "Adrenal gland disease" RELATED layperson []
xref: SNOMEDCT_US:30171000
xref: UMLS:C0001621
xref: UMLS:C4021794
is_a: HP:0000818 ! Abnormality of the endocrine system

[Term]
id: HP:0000835
name: Adrenal hypoplasia
def: "Developmental hypoplasia of the adrenal glands." [https://orcid.org/0000-0002-0736-9199]
synonym: "Adrenal gland hypoplasia" EXACT []
synonym: "Hypoplastic adrenal glands" EXACT []
synonym: "Small adrenal glands" EXACT layperson []
synonym: "Underdeveloped adrenal glands" EXACT []
xref: SNOMEDCT_US:237774001
xref: UMLS:C0342491
xref: UMLS:C1846223
is_a: HP:0011732 ! Abnormal adrenal morphology

[Term]
id: HP:0000836
name: Hyperthyroidism
alt_id: HP:0008241
def: "An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Overactive thyroid" EXACT layperson [http://www.mayoclinic.org/diseases-conditions/hyperthyroidism/basics/definition/con-20020986, https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:34486009
xref: UMLS:C0020550
is_a: HP:0002926 ! Abnormality of thyroid physiology

[Term]
id: HP:0000837
name: Increased circulating gonadotropin level
alt_id: HP:0030340
def: "Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland." [https://orcid.org/0000-0002-0538-4547]
synonym: "Elevated gonadotropins" EXACT layperson []
synonym: "Elevated serum gonadotropins" EXACT layperson []
synonym: "Gonadotropin excess" EXACT layperson []
synonym: "Increased circulating gonadotropin level" EXACT layperson []
xref: UMLS:C1862265
is_a: HP:0010514 ! Hyperpituitarism
is_a: HP:0030338 ! Abnormal circulating gonadotropin concentration

[Term]
id: HP:0000839
name: Pituitary dwarfism
def: "A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:367460001
xref: SNOMEDCT_US:7530009
xref: UMLS:C0013338
is_a: HP:0004322 ! Short stature

[Term]
id: HP:0000840
name: Adrenogenital syndrome
alt_id: HP:0001921
def: "Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:237751000
xref: SNOMEDCT_US:267395000
xref: SNOMEDCT_US:271077003
xref: UMLS:C0302280
is_a: HP:0008373 ! Puberty and gonadal disorders

[Term]
id: HP:0000841
name: Hyperactive renin-angiotensin system
def: "An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms." [https://orcid.org/0000-0002-0736-9199]
comment: If the kidneys sense reduced renal blood flow, as can happen with reduced blood pressure, they secrete renin into the blood, where it reacts with angiotensinogen to produce angiotensin I, which is converted to angiotensin II by angiotensin converting enzyme (ACE). Both angiotensin I and II are vasoconstrictors. Angiotensin II additionally leads to the production of aldosterone by the adrenal cortex, which in turn leads to an increase in blood volume.
synonym: "Increased plasma renin activity" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1846345
xref: UMLS:C3150267
is_a: HP:0000847 ! Abnormality of renin-angiotensin system

[Term]
id: HP:0000842
name: Hyperinsulinemia
def: "An increased concentration of insulin in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Elevated insulin level" EXACT []
xref: SNOMEDCT_US:83469008
xref: UMLS:C0020459
is_a: HP:0011014 ! Abnormal glucose homeostasis
is_a: HP:0040214 ! Abnormal circulating insulin concentration

[Term]
id: HP:0000843
name: Hyperparathyroidism
def: "Excessive production of parathyroid hormone (PTH) by the parathyroid glands." [https://orcid.org/0000-0002-0736-9199]
synonym: "Elevated blood parathyroid hormone level" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:66999008
xref: UMLS:C0020502
is_a: HP:0011767 ! Abnormality of the parathyroid physiology

[Term]
id: HP:0000845
name: Elevated circulating growth hormone concentration
alt_id: HP:0008856
def: "Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199]
comment: Disorder resulting from excess pituitary gland production of growth hormone (hGH).
synonym: "Elevated circulating somatotropin concentration" EXACT []
synonym: "Growth hormone excess" EXACT layperson []
synonym: "Somatotropin excess" EXACT []
xref: SNOMEDCT_US:74107003
xref: UMLS:C0001206
xref: UMLS:C0235986
is_a: HP:0010514 ! Hyperpituitarism
is_a: HP:0032367 ! Abnormal growth hormone level

[Term]
id: HP:0000846
name: Adrenal insufficiency
alt_id: HP:0000865
alt_id: HP:0008218
def: "Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands." [https://orcid.org/0000-0002-0736-9199, PMID:11443143]
comment: Adrenal insufficiency may cause persistent vomiting, anorexia, hypoglycemia, poor weight gain in a child, or unexplained weight loss in an adult, malaise, fatigue, muscular weakness, unexplained isotonic or hyponatremic dehydration, hyperkalemia, hypotension, hypoglycemia and especially generalized hyperpigmentation.
synonym: "Hypoadrenalism" EXACT []
xref: SNOMEDCT_US:111563005
xref: SNOMEDCT_US:237785004
xref: SNOMEDCT_US:386584007
xref: UMLS:C0001623
is_a: HP:0011733 ! Abnormality of adrenal physiology

[Term]
id: HP:0000847
name: Abnormality of renin-angiotensin system
alt_id: HP:0003350
def: "An abnormality of the renin-angiotensin system." [https://orcid.org/0000-0002-0736-9199]
comment: The renin-angiotensin system is a hormone system that regulates blood pressure and water (fluid) balance.
synonym: "Abnormality of the renin-aldosterone axis" EXACT []
xref: UMLS:C4021793
is_a: HP:0000818 ! Abnormality of the endocrine system

[Term]
id: HP:0000848
name: Increased circulating renin concentration
alt_id: HP:0003615
def: "An increased level of renin in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Elevated blood renin level" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Elevated plasma renin" EXACT []
synonym: "Hyperreninemia" EXACT []
synonym: "Increased circulating renin level" EXACT []
synonym: "Increased plasma renin" EXACT []
synonym: "Increased serum renin" EXACT []
xref: UMLS:C0240783
is_a: HP:0040084 ! Abnormal circulating renin concentration

[Term]
id: HP:0000849
name: Adrenocortical abnormality
xref: UMLS:C4025820
is_a: HP:0011732 ! Abnormal adrenal morphology

[Term]
id: HP:0000851
name: Congenital hypothyroidism
def: "A type of hypothyroidism with congenital onset." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypothyroidism, congenital" EXACT []
synonym: "Underactive thyroid gland from birth" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:190268003
xref: SNOMEDCT_US:217710005
xref: UMLS:C0010308
is_a: HP:0000821 ! Hypothyroidism

[Term]
id: HP:0000852
name: Pseudohypoparathyroidism
def: "A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:58976002
xref: UMLS:C0033806
is_a: HP:0011767 ! Abnormality of the parathyroid physiology

[Term]
id: HP:0000853
name: Goiter
def: "An enlargement of the thyroid gland." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlarged thyroid gland in neck" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Goitre" EXACT uk_spelling []
synonym: "Thyroid goiter" EXACT []
synonym: "Thyroid goitre" EXACT uk_spelling []
xref: SNOMEDCT_US:3716002
xref: UMLS:C0018021
is_a: HP:0011772 ! Abnormal thyroid morphology

[Term]
id: HP:0000854
name: Thyroid adenoma
def: "The presence of a adenoma of the thyroid gland." [https://orcid.org/0000-0002-0736-9199]
xref: NCIT:C2855
xref: SNOMEDCT_US:255033000
xref: SNOMEDCT_US:255034006
xref: UMLS:C0151468
is_a: HP:0100031 ! Neoplasm of the thyroid gland

[Term]
id: HP:0000855
name: Insulin resistance
def: "Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels." [https://orcid.org/0000-0002-0736-9199]
synonym: "Body fails to respond to insulin" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:48606007
xref: UMLS:C0021655
is_a: HP:0011014 ! Abnormal glucose homeostasis

[Term]
id: HP:0000857
name: Neonatal insulin-dependent diabetes mellitus
xref: UMLS:C3278636
is_a: HP:0000831 ! Insulin-resistant diabetes mellitus

[Term]
id: HP:0000858
name: Irregular menstruation
def: "Abnormally high variation in the amount of time between periods." [PMID:29323693]
comment: Most women have between 11 and 13 menstrual periods each year. Bleeding usually lasts around 5 days (range: 2 to 7 days). When menstruation first starts, it can take up to 2 years to establish a regular cycle. After puberty, most women's menstruation is regular. The length of time between each period is similar. The normal menstrual cycle length is 28 (+/- 7) days days with the menstruation lasting between 2 and 7 days. It can take up to 2 years from menarche to develop a mature hypothalamic-pituitary-gonadal (HPG) axis. Within 1 year, 75 percent of girls have a cycle between 21 and 45 days. By the fifth gynecological year, 90 percent of girls will have regular cycles.
synonym: "Irregular menses" EXACT []
synonym: "Irregular periods" EXACT []
synonym: "Menstrual irregularities" EXACT []
synonym: "Menstrual irregularity" EXACT layperson []
xref: SNOMEDCT_US:80182007
xref: UMLS:C0156404
is_a: HP:0000140 ! Abnormality of the menstrual cycle

[Term]
id: HP:0000859
name: Increased circulating aldosterone concentration
alt_id: HP:0004318
alt_id: HP:0005975
def: "Overproduction of the mineralocorticoid aldosterone by the adrenal cortex." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199]
synonym: "Elevated plasma aldosterone" EXACT layperson []
synonym: "Hyperaldosteronism" RELATED []
synonym: "Increased aldosterone" EXACT layperson []
synonym: "Increased aldosterone production" EXACT layperson []
synonym: "Mineralocorticoid excess" EXACT []
xref: SNOMEDCT_US:88213004
xref: UMLS:C0020428
is_a: HP:0040085 ! Abnormal circulating aldosterone concentration

[Term]
id: HP:0000860
name: Parathyroid hypoplasia
def: "Developmental hypoplasia of the parathyroid gland." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small parathyroid glands" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Underdeveloped parathyroid glands" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1389851
is_a: HP:0011768 ! Parathyroid dysgenesis

[Term]
id: HP:0000863
name: Central diabetes insipidus
alt_id: HP:0008210
def: "A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Neurohypophyseal diabetes insipidus" EXACT []
xref: SNOMEDCT_US:45369008
xref: UMLS:C0687720
is_a: HP:0000873 ! Diabetes insipidus

[Term]
id: HP:0000864
name: Abnormality of the hypothalamus-pituitary axis
alt_id: HP:0000838
alt_id: HP:0000844
def: "Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit." [https://orcid.org/0000-0002-0538-4547]
xref: UMLS:C4025819
is_a: HP:0000818 ! Abnormality of the endocrine system

[Term]
id: HP:0000866
name: Euthyroid multinodular goiter
synonym: "Euthyroid multinodular goitre" EXACT uk_spelling []
xref: UMLS:C1846034
is_a: HP:0009798 ! Euthyroid goiter

[Term]
id: HP:0000867
name: Secondary hyperparathyroidism
def: "Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia." [https://orcid.org/0000-0002-0736-9199, PMID:19836494]
comment: Secondary hyperparathyroidism occurs most commonly secondary to chronic renal failure. Other causes of secondary hyperparathyroidism include osteomalacia, rickets, and malabsorption. The pathophysiology of secondary hyperparathyroidism results from abnormalities in the renal tubular absorption of phosphate with reduced phosphate excretion and hyperphosphatemia, as well as impaired renal conversion of 25-hydroxycholecalciferal to 1,25-dihydroxycholecalciferol, which in turn leads to a decrease in the intestinal absorption of calcium. In combination, elevated serum phosphate levels and reduced vitamin D production result in decreases in serum calcium levels or hypocalcemia, leading to hyperparathyroidism.
xref: SNOMEDCT_US:91478007
xref: UMLS:C0020503
is_a: HP:0000843 ! Hyperparathyroidism

[Term]
id: HP:0000868
name: Decreased fertility in females
synonym: "Decreased fertility in females" EXACT layperson []
synonym: "Reduced fertility in females" EXACT layperson []
xref: UMLS:C0151639
is_a: HP:0000144 ! Decreased fertility

[Term]
id: HP:0000869
name: Secondary amenorrhea
synonym: "Previous menstrual periods stop" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:86030004
xref: UMLS:C0232940
is_a: HP:0000141 ! Amenorrhea

[Term]
id: HP:0000870
name: Increased circulating prolactin concentration
def: "The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199]
synonym: "Hyperprolactinaemia" EXACT []
synonym: "Hyperprolactinemia" EXACT []
synonym: "Prolactin excess" EXACT []
xref: SNOMEDCT_US:237662005
xref: UMLS:C0020514
is_a: HP:0010514 ! Hyperpituitarism

[Term]
id: HP:0000871
name: Panhypopituitarism
def: "A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin)." [https://orcid.org/0000-0002-0736-9199, PMID:12466332]
xref: SNOMEDCT_US:32390006
xref: UMLS:C0242343
is_a: HP:0000830 ! Anterior hypopituitarism

[Term]
id: HP:0000872
name: Hashimoto thyroiditis
def: "A chronic, autoimmune type of thyroiditis associated with hypothyroidism." [https://orcid.org/0000-0002-0736-9199]
synonym: "Chronic lymphocytic thyroiditis" EXACT []
synonym: "Hashimoto's thyroiditis" EXACT []
xref: SNOMEDCT_US:21983002
xref: UMLS:C0677607
is_a: HP:0002960 ! Autoimmunity
is_a: HP:0100646 ! Thyroiditis

[Term]
id: HP:0000873
name: Diabetes insipidus
def: "A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus)." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:15771004
xref: UMLS:C0011848
is_a: HP:0000818 ! Abnormality of the endocrine system

[Term]
id: HP:0000875
name: Episodic hypertension
synonym: "Intermittent high blood pressure" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1857175
is_a: HP:0000822 ! Hypertension

[Term]
id: HP:0000876
name: Oligomenorrhea
def: "Infrequent menses (less than 6 per year or more than 35 days between cycles)." [https://orcid.org/0000-0002-0736-9199, PMID:22594864]
synonym: "Light or infrequent menstrual periods" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:52073004
xref: UMLS:C0028949
is_a: HP:0000140 ! Abnormality of the menstrual cycle

[Term]
id: HP:0000877
name: Insulin-resistant diabetes mellitus at puberty
synonym: "Insulin-resistant diabetes mellitus at puberty" EXACT layperson []
xref: UMLS:C1837792
is_a: HP:0000831 ! Insulin-resistant diabetes mellitus

[Term]
id: HP:0000878
name: 11 pairs of ribs
def: "Presence of only 11 pairs of ribs." [https://orcid.org/0000-0002-0736-9199]
comment: Normally, there are 12 pairs of ribs.
subset: hposlim_core
synonym: "11 pairs of ribs" EXACT layperson []
xref: UMLS:C1839731
is_a: HP:0000921 ! Missing ribs

[Term]
id: HP:0000879
name: Short sternum
def: "Decreased inferosuperior length of the sternum." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Hypoplastic sternum" RELATED []
synonym: "Short sternum" EXACT layperson []
xref: SNOMEDCT_US:298724002
xref: UMLS:C0575497
xref: UMLS:C4020883
is_a: HP:0006714 ! Aplasia/Hypoplasia of the sternum

[Term]
id: HP:0000882
name: Hypoplastic scapulae
alt_id: HP:0000906
alt_id: HP:0006616
def: "Underdeveloped scapula." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Hypoplastic scapula" EXACT []
synonym: "Scapular hypoplasia" EXACT []
synonym: "Short scapulae" EXACT []
synonym: "Small scapula" EXACT []
synonym: "Small scapulae" EXACT []
synonym: "Small shoulder blade" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1846434
is_a: HP:0006713 ! Aplasia/Hypoplasia of the scapulae

[Term]
id: HP:0000883
name: Thin ribs
def: "Ribs with a reduced diameter." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Slender ribs" EXACT layperson []
synonym: "Thin ribs" EXACT layperson []
xref: SNOMEDCT_US:249697003
xref: UMLS:C0426818
is_a: HP:0000772 ! Abnormal rib morphology

[Term]
id: HP:0000884
name: Prominent sternum
synonym: "Prominent sternum" EXACT layperson []
synonym: "Sternal protrusion" EXACT []
xref: UMLS:C1846433
is_a: HP:0000766 ! Abnormal sternum morphology

[Term]
id: HP:0000885
name: Broad ribs
alt_id: HP:0000903
alt_id: HP:0000950
alt_id: HP:0006667
def: "Increased width of ribs" [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Broad ribs" EXACT layperson []
synonym: "Wide ribs" EXACT layperson []
xref: UMLS:C1848654
is_a: HP:0000772 ! Abnormal rib morphology

[Term]
id: HP:0000886
name: Deformed rib cage
def: "Malformation of the rib cage." [https://orcid.org/0000-0002-0736-9199]
synonym: "Deformed rib cage" EXACT layperson []
xref: UMLS:C1838659
is_a: HP:0001547 ! Abnormal rib cage morphology

[Term]
id: HP:0000887
name: Cupped ribs
alt_id: HP:0006635
def: "Wide, concave rib end." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Cupped ribs" EXACT layperson []
synonym: "Rib cupping" EXACT layperson []
synonym: "Rib flaring" RELATED layperson []
xref: SNOMEDCT_US:249704008
xref: UMLS:C0426826
xref: UMLS:C1865039
is_a: HP:0000772 ! Abnormal rib morphology

[Term]
id: HP:0000888
name: Horizontal ribs
def: "A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12." [https://orcid.org/0000-0002-0736-9199]
synonym: "Horizontal ribs" EXACT layperson []
xref: UMLS:C3806510
is_a: HP:0000772 ! Abnormal rib morphology

[Term]
id: HP:0000889
name: Abnormal clavicle morphology
def: "Any abnormality of the clavicles (collar bones)." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormal clavicles" EXACT []
synonym: "Abnormal collarbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the clavicle" EXACT []
xref: UMLS:C4021792
is_a: HP:0000765 ! Abnormal thorax morphology

[Term]
id: HP:0000890
name: Long clavicles
alt_id: HP:0006592
def: "Increased length of the clavicles." [https://orcid.org/0000-0002-0736-9199]
synonym: "Elongated clavicles" EXACT []
synonym: "Long collarbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:249687007
xref: UMLS:C0426808
is_a: HP:0000889 ! Abnormal clavicle morphology

[Term]
id: HP:0000891
name: Cervical ribs
subset: hposlim_core
xref: SNOMEDCT_US:72535009
xref: UMLS:C0158779
is_a: HP:0005815 ! Supernumerary ribs

[Term]
id: HP:0000892
name: Bifid ribs
def: "A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cleft ribs" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Split ribs" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4721788
is_a: HP:0000772 ! Abnormal rib morphology

[Term]
id: HP:0000893
name: Bulging of the costochondral junction
def: "Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage." [https://orcid.org/0000-0002-0736-9199]
comment: The costochondral junction is the structure where the ribs articulate with the sternum.
xref: UMLS:C1848538
is_a: HP:0000766 ! Abnormal sternum morphology
is_a: HP:0000919 ! Abnormality of the costochondral junction

[Term]
id: HP:0000894
name: Short clavicles
alt_id: HP:0000898
alt_id: HP:0005698
alt_id: HP:0005902
def: "Reduced length of the clavicles." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Clavicular hypoplasia" EXACT []
synonym: "Hypoplastic clavicles" EXACT []
synonym: "Short collarbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Underdeveloped clavicles" EXACT []
xref: SNOMEDCT_US:93250003
xref: UMLS:C0426799
is_a: HP:0006710 ! Aplasia/Hypoplasia of the clavicles

[Term]
id: HP:0000895
name: Lateral clavicle hook
def: "An excessive upward convexity of the lateral clavicle." [https://orcid.org/0000-0002-0736-9199, PMID:7322653]
synonym: "Handlebar clavicle" EXACT []
synonym: "Hook-shaped clavicle" EXACT []
synonym: "Hook-shaped collarbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Hooked clavicle" EXACT []
xref: SNOMEDCT_US:249684000
xref: UMLS:C0426805
is_a: HP:0000889 ! Abnormal clavicle morphology

[Term]
id: HP:0000896
name: Rib exostoses
def: "Multiple circumscribed bony excrescences located in the ribs." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1835579
is_a: HP:0000772 ! Abnormal rib morphology
is_a: HP:0100777 ! Exostoses

[Term]
id: HP:0000897
name: Rachitic rosary
def: "A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib." [https://orcid.org/0000-0002-0736-9199, PMID:26745253]
comment: Nutritional rickets (NR), secondary to vitamin D deficiency and/or dietary calcium deficiency, is characterized by a range of features including 1) hypocalcemic seizures and tetanic spasms; 2) life-threatening hypocalcemic cardiomyopathy; 3) bone pain and muscle weakness; 4) limb and pelvic deformities; 5) failure to thrive; 6) developmental delay; and 7) dental anomalies. Rickets can additionally be caused by genetic defects such as a defect in the vitamin D receptor gene.
xref: SNOMEDCT_US:15214001
xref: SNOMEDCT_US:249702007
is_a: HP:0000766 ! Abnormal sternum morphology
is_a: HP:0000919 ! Abnormality of the costochondral junction

[Term]
id: HP:0000900
name: Thickened ribs
def: "Increased thickness (diameter) of ribs." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
xref: SNOMEDCT_US:249699000
xref: UMLS:C0426820
is_a: HP:0000772 ! Abnormal rib morphology

[Term]
id: HP:0000902
name: Rib fusion
alt_id: HP:0000880
def: "Complete or partial merging of adjacent ribs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fused ribs" EXACT layperson []
synonym: "Rib fusion" EXACT layperson []
xref: UMLS:C1844749
is_a: HP:0000772 ! Abnormal rib morphology

[Term]
id: HP:0000904
name: Flaring of rib cage
alt_id: HP:0006656
def: "The presence of wide, concave anterior rib ends." [https://orcid.org/0000-0002-0736-9199]
synonym: "Anterior flaring of ribs" EXACT []
synonym: "Flaring of rib cage" EXACT layperson []
xref: UMLS:C1854780
is_a: HP:0000772 ! Abnormal rib morphology

[Term]
id: HP:0000905
name: Progressive clavicular acroosteolysis
def: "Progressive bone resorption in the distal part of the clavicle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Progressive acroosteolysis of the clavicle" EXACT []
xref: UMLS:C1837757
is_a: HP:0000889 ! Abnormal clavicle morphology
is_a: HP:0002797 ! Osteolysis

[Term]
id: HP:0000907
name: Anterior rib cupping
alt_id: HP:0006601
def: "Wide, concave anterior rib end." [https://orcid.org/0000-0002-0736-9199]
synonym: "Anterior cupping of ribs" EXACT []
synonym: "Anteriorly splayed ribs" EXACT []
xref: UMLS:C1846154
is_a: HP:0000887 ! Cupped ribs

[Term]
id: HP:0000910
name: Wide-cupped costochondral junctions
xref: UMLS:C1861213
is_a: HP:0000919 ! Abnormality of the costochondral junction

[Term]
id: HP:0000911
name: Flat glenoid fossa
def: "Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus." [https://orcid.org/0000-0002-0736-9199, PMID:15163819]
comment: See PMID:15163819, figure 2, for the arthrographic appearance of a flat glenoid fossa.
xref: UMLS:C1855177
is_a: HP:0011912 ! Abnormality of the glenoid fossa

[Term]
id: HP:0000912
name: Sprengel anomaly
alt_id: HP:0006621
def: "A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other)." [https://orcid.org/0000-0002-0736-9199]
comment: Sprengel deformity is associated with malposition and dysplasia of the scapula and also involves regional muscle hypoplasia or atrophy, which causes disfigurement and limitation of shoulder movement. Sprengel deformity may be unilateral or bilateral and occur in isolation or as a syndromic component. Abduction of shoulder beyond 90 degrees is impossible.
subset: hposlim_core
synonym: "Congenital, upward displacement of the scapula" EXACT []
synonym: "High scapula" EXACT [https://en.wikipedia.org/wiki/sprengel%27s_deformity, https://orcid.org/0000-0001-5208-3432]
synonym: "High shoulder blade" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Sprengel deformity" EXACT []
xref: MEDDRA:10010455 "Congenital elevation of scapula"
xref: SNOMEDCT_US:79120002
xref: UMLS:C0152438
is_a: HP:0000782 ! Abnormal scapula morphology

[Term]
id: HP:0000913
name: Posterior rib fusion
def: "Complete or partial merging of the posterior part of adjacent ribs." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1842084
is_a: HP:0000902 ! Rib fusion

[Term]
id: HP:0000914
name: Shield chest
def: "A broad chest." [https://orcid.org/0000-0002-0736-9199, PMID:22368597]
comment: Stretching of the thoracic cage as a result of fetal edema may contribute to the shield chest with widely spaced nipples that can be obsered in persons with Turner syndrome.
synonym: "Broad chest" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Shield chest" EXACT layperson []
xref: UMLS:C1834124
xref: UMLS:C1839248
is_a: HP:0100625 ! Enlarged thorax

[Term]
id: HP:0000915
name: Pectus excavatum of inferior sternum
def: "Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Pectus excavatum inferiorly" EXACT []
xref: UMLS:C1864796
is_a: HP:0000767 ! Pectus excavatum

[Term]
id: HP:0000916
name: Broad clavicles
alt_id: HP:0006651
def: "Increased width (cross-sectional diameter) of the clavicles." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Broad collarbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:249680009
xref: UMLS:C0426801
is_a: HP:0000889 ! Abnormal clavicle morphology

[Term]
id: HP:0000917
name: Superior pectus carinatum
def: "Pectus carinatum affecting primarily the superior part of the sternum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Pectus carinatum superiorly" EXACT []
xref: UMLS:C1864795
is_a: HP:0000768 ! Pectus carinatum

[Term]
id: HP:0000918
name: Scapular exostoses
def: "The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage." [https://orcid.org/0000-0002-0736-9199]
synonym: "Scapulae exostoses" EXACT []
synonym: "Shoulder bone exostoes" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1851415
is_a: HP:0000782 ! Abnormal scapula morphology
is_a: HP:0100777 ! Exostoses

[Term]
id: HP:0000919
name: Abnormality of the costochondral junction
def: "Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum." [https://orcid.org/0000-0002-0736-9199]
comment: The first seven pairs of ribs are connected with the sternum; the next three ribs are each articulated with the lower border of the cartilage of the preceding rib; the last two ribs have pointed extremities, which do not connect with the sternum.
synonym: "Costochondral juctions abnormal" EXACT []
xref: UMLS:C4021791
is_a: HP:0000772 ! Abnormal rib morphology

[Term]
id: HP:0000920
name: Enlargement of the costochondral junction
alt_id: HP:0006620
def: "Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Costochondral thickening" EXACT []
synonym: "Enlarged costochondral junctions" EXACT []
synonym: "Prominent costochondral junction" EXACT []
synonym: "Wide costochondral junctions" EXACT []
synonym: "Widened costochondral junction" EXACT []
xref: UMLS:C1857180
is_a: HP:0000919 ! Abnormality of the costochondral junction

[Term]
id: HP:0000921
name: Missing ribs
alt_id: HP:0000881
alt_id: HP:0006627
def: "A developmental anomaly with absence of one or more ribs." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Absent ribs" EXACT layperson []
synonym: "Decreased rib number" EXACT layperson []
synonym: "Missing ribs" EXACT layperson []
xref: SNOMEDCT_US:249695006
xref: UMLS:C0426816
is_a: HP:0006712 ! Aplasia/Hypoplasia of the ribs

[Term]
id: HP:0000922
name: Posterior rib cupping
alt_id: HP:0006622
def: "Wide, concave posterior rib end." [https://orcid.org/0000-0002-0736-9199]
synonym: "Anterior and posterior rib cupping" EXACT []
xref: UMLS:C1837483
is_a: HP:0000887 ! Cupped ribs

[Term]
id: HP:0000923
name: obsolete Beaded ribs
is_obsolete: true
replaced_by: HP:0006640

[Term]
id: HP:0000924
name: Abnormality of the skeletal system
def: "An abnormality of the skeletal system." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the skeletal system" EXACT layperson []
synonym: "Skeletal abnormalities" EXACT layperson []
synonym: "Skeletal anomalies" EXACT layperson []
xref: UMLS:C4021790
is_a: HP:0033127 ! Abnormality of the musculoskeletal system

[Term]
id: HP:0000925
name: Abnormality of the vertebral column
def: "Any abnormality of the vertebral column." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormal spine" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Abnormal vertebral column" EXACT layperson []
synonym: "Abnormality of the backbone" RELATED layperson []
synonym: "Abnormality of the spine" EXACT layperson []
synonym: "Abnormality of the vertebral column" EXACT layperson []
xref: UMLS:C4020882
xref: UMLS:C4021789
is_a: HP:0009121 ! Abnormal axial skeleton morphology

[Term]
id: HP:0000926
name: Platyspondyly
alt_id: HP:0002940
alt_id: HP:0003421
alt_id: HP:0004595
alt_id: HP:0004623
alt_id: HP:0004627
alt_id: HP:0005123
alt_id: HP:0005644
alt_id: HP:0008466
def: "A flattened vertebral body shape with reduced distance between the vertebral endplates." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Flat vertebral bodies" EXACT []
synonym: "Flattened vertebrae" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Flattened vertebral bodies" EXACT []
xref: UMLS:C1844704
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0000927
name: Abnormality of skeletal maturation
def: "The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of skeletal maturation" EXACT layperson []
xref: UMLS:C4025818
is_a: HP:0011843 ! Abnormal musculoskeletal physiology

[Term]
id: HP:0000929
name: Abnormal skull morphology
def: "An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the skull" EXACT layperson []
synonym: "Abnormality of the skull bones" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C0235942
is_a: HP:0000234 ! Abnormality of the head
is_a: HP:0009121 ! Abnormal axial skeleton morphology

[Term]
id: HP:0000930
name: Elevated imprint of the transverse sinuses
synonym: "Elevated imprint of occipital bone over the transverse sinuses" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Elevated imprint of posterior skull bones over the transverse sinuses" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Thinning and bulging of occipital bone over the transverse sinuses" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Thinning and bulging of posterior skull bones over the transverse sinuses" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025817
is_a: HP:0002693 ! Abnormal skull base morphology

[Term]
id: HP:0000931
name: Thinning and bulging of the posterior fossa bones
synonym: "Thinning and bulging of occipital bone of skull" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Thinning and bulging of posterior fossa bones" EXACT []
synonym: "Thinning and bulging of posterior skull bones" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4021788
xref: UMLS:C4280608
is_a: HP:0000932 ! Abnormal posterior cranial fossa morphology

[Term]
id: HP:0000932
name: Abnormal posterior cranial fossa morphology
alt_id: HP:0007306
def: "An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum." [https://orcid.org/0000-0002-0736-9199, PMID:25970099, PMID:28295149]
comment: The floor of the cranial cavity is divided into three distinct depressions called the anterior, middle, and posterior cranial fossa. The posterior cranial fossa, the most posterior and deep of the three cranial fossae, accommodates the brainstem and cerebellum. Abnormalities of the posterier cranial fossa can be demonstrated by cerebral magnetic resonance imaging or computer tomography.
synonym: "Abnormality of the posterior cranial fossa" EXACT []
synonym: "Abnormality of the posterior fossa" EXACT []
synonym: "Posterior fossa anomaly" EXACT []
xref: UMLS:C3280768
is_a: HP:0002693 ! Abnormal skull base morphology

[Term]
id: HP:0000933
name: Posterior fossa cyst at the fourth ventricle
xref: UMLS:C4025816
is_a: HP:0007109 ! Periventricular cysts
is_a: HP:0007291 ! Posterior fossa cyst

[Term]
id: HP:0000934
name: Chondrocalcinosis
def: "Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) ." [https://orcid.org/0009-0006-4530-3154]
synonym: "Calcium deposits in joints" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:201637001
xref: SNOMEDCT_US:239832006
xref: SNOMEDCT_US:239838005
xref: UMLS:C0553730
is_a: HP:0001367 ! Abnormal joint morphology
is_a: HP:0010766 ! Ectopic calcification
is_a: HP:0100685 ! Abnormal Sharpey fiber morphology

[Term]
id: HP:0000935
name: Thickened cortex of long bones
def: "Abnormal thickening of the cortex of long bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad cortex of long bones" EXACT []
synonym: "Cortical thickening of the long bones" EXACT []
synonym: "Thickened cortices of long bones" EXACT []
xref: UMLS:C1840418
is_a: HP:0011314 ! Abnormal long bone morphology
is_a: HP:0100039 ! Thickened cortex of bones

[Term]
id: HP:0000938
name: Osteopenia
alt_id: HP:0002768
alt_id: HP:0002799
alt_id: HP:0002800
def: "Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5." [https://orcid.org/0000-0002-0736-9199, PMID:21234807]
synonym: "Generalised osteopenia" EXACT uk_spelling []
synonym: "Generalized osteopenia" EXACT []
synonym: "Osteopaenia" EXACT uk_spelling []
xref: SNOMEDCT_US:312894000
xref: SNOMEDCT_US:78441005
xref: UMLS:C0029453
xref: UMLS:C0747078
is_a: HP:0004349 ! Reduced bone mineral density

[Term]
id: HP:0000939
name: Osteoporosis
alt_id: HP:0002774
def: "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD)." [https://orcid.org/0000-0002-0736-9199, PMID:28293453]
comment: Osteoporosis is a disease that is characterized by low bone mass, deterioration of bone tissue, and disruption of bone microarchitecture: it can lead to compromised bone strength and an increase in the risk of fractures.
xref: SNOMEDCT_US:64859006
xref: UMLS:C0029456
is_a: HP:0004349 ! Reduced bone mineral density

[Term]
id: HP:0000940
name: Abnormal diaphysis morphology
alt_id: HP:0006504
def: "An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal shape of shaft of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality involving the diaphyses of the limbs" EXACT []
synonym: "Abnormality of shaft of long bone of the limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the diaphyses" EXACT []
synonym: "Anomaly of the limb diaphyses" EXACT []
synonym: "Anomaly of the limb diaphyses morphology" EXACT []
xref: UMLS:C4021787
is_a: HP:0002813 ! Abnormal limb bone morphology
is_a: HP:0011314 ! Abnormal long bone morphology

[Term]
id: HP:0000941
name: Short diaphyses
synonym: "Short shaft of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025815
is_a: HP:0000940 ! Abnormal diaphysis morphology

[Term]
id: HP:0000943
name: Dysostosis multiplex
alt_id: HP:0002760
xref: SNOMEDCT_US:254069004
xref: SNOMEDCT_US:65327002
xref: UMLS:C0086795
is_a: HP:0011842 ! Abnormal skeletal morphology

[Term]
id: HP:0000944
name: Abnormal metaphysis morphology
alt_id: HP:0006506
def: "An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the wide portion of a long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025814
is_a: HP:0002813 ! Abnormal limb bone morphology
is_a: HP:0011314 ! Abnormal long bone morphology

[Term]
id: HP:0000946
name: Hypoplastic ilia
alt_id: HP:0003176
alt_id: HP:0003178
def: "Underdevelopment of the ilium." [https://orcid.org/0000-0002-0736-9199]
synonym: "Short and small iliac bones" EXACT []
synonym: "Small iliac bones" EXACT []
synonym: "Small wings of the pelvic girdle" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1861218
xref: UMLS:C4280607
is_a: HP:0002867 ! Abnormal ilium morphology

[Term]
id: HP:0000947
name: Dumbbell-shaped long bone
alt_id: HP:0005061
alt_id: HP:0005071
alt_id: HP:0005075
def: "An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses." [https://orcid.org/0000-0002-0736-9199]
synonym: "Dumbbell widening of long bone metaphyses" EXACT []
synonym: "Dumbbell-shaped long bone" EXACT layperson []
xref: UMLS:C2749582
is_a: HP:0003016 ! Metaphyseal widening

[Term]
id: HP:0000951
name: Abnormality of the skin
alt_id: HP:0001478
alt_id: HP:0001479
alt_id: HP:0005591
alt_id: HP:0006736
alt_id: HP:0007415
alt_id: HP:0007580
def: "An abnormality of the skin." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the skin" EXACT layperson []
synonym: "Dermatopathy" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Dermopathy" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Skin abnormality" RELATED []
xref: SNOMEDCT_US:199879009
xref: SNOMEDCT_US:95320005
xref: UMLS:C0037268
xref: UMLS:C0037274
is_a: HP:0001574 ! Abnormality of the integument

[Term]
id: HP:0000952
name: Jaundice
def: "Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [https://orcid.org/0000-0002-0736-9199]
synonym: "Icterus" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Jaundice" EXACT layperson []
synonym: "Yellow skin" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Yellowing of the skin" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:18165001
xref: UMLS:C0022346
is_a: HP:0001005 ! Dermatological manifestations of systemic disorders
is_a: HP:0001396 ! Cholestasis

[Term]
id: HP:0000953
name: Hyperpigmentation of the skin
alt_id: HP:0007527
def: "A darkening of the skin related to an increase in melanin production and deposition." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cutaneous hyperpigmentation" EXACT []
synonym: "Hyperpigmented lesion" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Increased skin pigmentation" EXACT []
synonym: "Melanoderma" RELATED []
synonym: "Melanodermia" RELATED []
synonym: "Patchy darkened skin" EXACT layperson []
synonym: "Skin hyperpigmentation" EXACT []
xref: SNOMEDCT_US:4830009
xref: SNOMEDCT_US:49765009
xref: UMLS:C0162834
is_a: HP:0001000 ! Abnormality of skin pigmentation

[Term]
id: HP:0000954
name: Single transverse palmar crease
alt_id: HP:0006214
def: "The distal and proximal transverse palmar creases are merged into a single transverse palmar crease." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
comment: The presence of a single palmar crease (instead of the two palmar creases that are typically present).
subset: hposlim_core
synonym: "Simian crease" EXACT []
synonym: "Simian creases" EXACT []
synonym: "Simian line" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Single flexion crease" EXACT []
synonym: "Single palmar crease" EXACT []
synonym: "Single palmar creases" EXACT []
synonym: "Single transverse palmar creases" EXACT []
synonym: "Transverse palmar crease" EXACT []
xref: SNOMEDCT_US:248409006
xref: UMLS:C0424731
is_a: HP:0010490 ! Abnormality of the palmar creases

[Term]
id: HP:0000956
name: Acanthosis nigricans
alt_id: HP:0007498
alt_id: HP:0007518
alt_id: HP:0007591
def: "A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck." [https://orcid.org/0000-0003-1773-4011, PMID:19061584]
comment: Acanthosis nigricans is seen in a variety of syndromes including those characterized by insulin resistance or fibroblast growth factor receptor (FGFR) mutations, and may also occur as an adverse effect of several medications that promote hyperinsulinemia.
subset: secondary_consequence
synonym: "Darkened and thickened skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Keratosis nigricans" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:402599005
xref: SNOMEDCT_US:72129000
xref: UMLS:C0000889
is_a: HP:0011368 ! Epidermal thickening

[Term]
id: HP:0000957
name: Cafe-au-lait spot
alt_id: HP:0005601
alt_id: HP:0007454
def: "Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children." [https://orcid.org/0000-0002-0736-9199]
comment: The phrase cafe-au-lait comes from the French word for milk-coffee. A single cafe-au-lait spot can be an isolated finding in otherwise normal individuals. Multiple cafe-au-lait spots often indicate the presence of neurofibromatosis type 1 but may also be seen in other diseases including McCune-Albright syndrome, tuberous sclerosis, and Fanconi anemia.
synonym: "Birthmark" BROAD layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Cafe au lait spots" EXACT []
synonym: "Cafe-au-lait macule" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Cafe-au-lait macules" EXACT []
synonym: "Cafe-au-lait spots" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Flat light-brown mark on skin" BROAD layperson []
xref: SNOMEDCT_US:201281002
xref: SNOMEDCT_US:51089004
xref: UMLS:C0221263
xref: UMLS:C0265974
is_a: HP:0001034 ! Hypermelanotic macule

[Term]
id: HP:0000958
name: Dry skin
def: "Skin characterized by the lack of natural or normal moisture." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Dry skin" EXACT layperson []
synonym: "Xerosis" EXACT []
xref: MEDDRA:10048222 "Xerosis"
xref: SNOMEDCT_US:16386004
xref: UMLS:C0151908
xref: UMLS:C0259817
is_a: HP:0011121 ! Abnormal skin morphology

[Term]
id: HP:0000960
name: Sacral dimple
def: "A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft." [https://orcid.org/0000-0002-0736-9199, PMID:28245993]
subset: hposlim_core
synonym: "Pilonidal dimple" EXACT []
synonym: "Spinal dimple" EXACT layperson [https://en.wikipedia.org/wiki/sacral_dimple, https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:249729002
xref: SNOMEDCT_US:311897005
xref: UMLS:C0426848
is_a: HP:0010767 ! Sacrococcygeal pilonidal abnormality
is_a: HP:0010781 ! Skin dimple

[Term]
id: HP:0000961
name: Cyanosis
def: "Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood." [PMID:25658213]
synonym: "Blue discoloration of the skin" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:119419001
xref: SNOMEDCT_US:3415004
xref: UMLS:C0010520
is_a: HP:0001005 ! Dermatological manifestations of systemic disorders

[Term]
id: HP:0000962
name: Hyperkeratosis
alt_id: HP:0007523
alt_id: HP:0007543
def: "Hyperkeratosis is thickening of the epidermis involving the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Epidermal hyperkeratosis" EXACT []
xref: MEDDRA:10020649 "Hyperkeratosis"
xref: SNOMEDCT_US:26996000
xref: SNOMEDCT_US:396228006
xref: SNOMEDCT_US:399955009
xref: UMLS:C0870082
is_a: HP:0011368 ! Epidermal thickening

[Term]
id: HP:0000963
name: Thin skin
alt_id: HP:0001020
def: "Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Thin skin" EXACT layperson []
xref: SNOMEDCT_US:277797007
xref: UMLS:C0423757
is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin

[Term]
id: HP:0000964
name: Eczematoid dermatitis
alt_id: HP:0000976
alt_id: HP:0001481
def: "Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces." [https://orcid.org/0000-0002-0736-9199, PMID:32412211]
comment: The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding. Eczema has several forms including atopic dermatitis, contact dermatitis, dyshidrotic eczema, nummular eczema, seborrheic dermatitis, and stasis dermatitis.
synonym: "Dermatitis" RELATED []
synonym: "Eczema" EXACT layperson []
xref: SNOMEDCT_US:281104002
xref: SNOMEDCT_US:43116000
xref: UMLS:C0013595
is_a: HP:0011123 ! Inflammatory abnormality of the skin

[Term]
id: HP:0000965
name: Cutis marmorata
alt_id: HP:0001037
def: "A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather." [https://orcid.org/0009-0006-4530-3154]
subset: hposlim_core
xref: UMLS:C0263401
is_a: HP:0011276 ! Vascular skin abnormality

[Term]
id: HP:0000966
name: Hypohidrosis
alt_id: HP:0007551
alt_id: HP:0007571
def: "Abnormally diminished capacity to sweat." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Decreased ability to sweat" EXACT layperson []
synonym: "Decreased sweating" EXACT layperson []
synonym: "Impaired sweating" EXACT []
synonym: "Inadequate sweating" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Oligohidrosis" EXACT []
synonym: "Sweating, decreased" EXACT layperson []
xref: MEDDRA:10021013 "Hypohidrosis"
xref: SNOMEDCT_US:45004005
xref: UMLS:C0020620
is_a: HP:0007550 ! Hypohidrosis or hyperhidrosis

[Term]
id: HP:0000967
name: Petechiae
def: "Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae." [https://orcid.org/0000-0002-0736-9199, PMID:29493956]
subset: hposlim_core
xref: MEDDRA:10034754 "Petechiae"
xref: SNOMEDCT_US:271813007
xref: SNOMEDCT_US:50091001
xref: UMLS:C0031256
is_a: HP:0031365 ! Macular purpura

[Term]
id: HP:0000968
name: Ectodermal dysplasia
alt_id: HP:0007436
alt_id: HP:0007615
def: "Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands." [https://orcid.org/0000-0002-0736-9199]
comment: This term is kept in the HPO for now as 'ectodermal dysplasia' has been recorded as a phenotypic of other disorders such as DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA (MIM125050). Nevertheless it is preferable to use precise descriptions of the phenotypic abnormalities and this term should not be used for new annotations. It will be made obsolete in the future.
xref: SNOMEDCT_US:254154003
xref: SNOMEDCT_US:8654005
xref: UMLS:C0013575
is_a: HP:0011354 ! Generalized abnormality of skin

[Term]
id: HP:0000969
name: Edema
alt_id: HP:0000990
def: "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body." [https://orcid.org/0000-0002-0736-9199]
comment: Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability.
synonym: "Dropsy" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Fluid retention" EXACT layperson []
synonym: "Hydrops" EXACT []
synonym: "Oedema" EXACT []
synonym: "Soft tissue swelling" BROAD []
synonym: "Water retention" EXACT layperson []
xref: SNOMEDCT_US:20741006
xref: SNOMEDCT_US:267038008
xref: SNOMEDCT_US:423666004
xref: SNOMEDCT_US:79654002
xref: UMLS:C0013604
is_a: HP:0011032 ! Abnormality of fluid regulation

[Term]
id: HP:0000970
name: Anhidrosis
def: "Inability to sweat." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Anhydrosis" EXACT []
synonym: "Lack of sweating" EXACT layperson [http://www.medicalnewstoday.com/articles/266427.php, https://orcid.org/0000-0001-5208-3432]
synonym: "Sudomotor dysfunction" EXACT [http://www.medicalnewstoday.com/articles/266427.php, https://orcid.org/0000-0001-5208-3432]
synonym: "Sweating dysfunction" EXACT layperson [http://www.medicalnewstoday.com/articles/266427.php, https://orcid.org/0000-0001-5208-3432]
xref: MEDDRA:10002512 "Anhidrosis"
xref: SNOMEDCT_US:14662005
xref: SNOMEDCT_US:39659002
xref: UMLS:C0003028
is_a: HP:0025276 ! Abnormality of skin adnexa physiology

[Term]
id: HP:0000971
name: Abnormal sweat gland morphology
def: "Any structural abnormality of the sweat gland." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormalities of sweating" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Abnormality of the sweat gland" EXACT layperson []
synonym: "Sweat gland disease" RELATED layperson []
xref: SNOMEDCT_US:88232005
xref: UMLS:C0038986
xref: UMLS:C0262643
xref: UMLS:C4020881
is_a: HP:0011138 ! Abnormal skin adnexa morphology

[Term]
id: HP:0000972
name: Palmoplantar hyperkeratosis
alt_id: HP:0007548
def: "Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot." [https://orcid.org/0000-0002-0736-9199]
comment: The terms hyperkeratosis and keratoderma have been used interchangeably throughout the literature.
subset: hposlim_core
synonym: "Hyperkeratosis of palms and soles" EXACT []
synonym: "Hyperkeratosis of the palms and soles" EXACT []
synonym: "Palmoplantar keratoses" EXACT []
synonym: "Palmoplantar keratosis" EXACT []
synonym: "Thick palms and soles" EXACT []
synonym: "Thickened palms and soles" EXACT []
synonym: "Thickening of the outer layer of the skin of the palms and soles" EXACT layperson []
xref: SNOMEDCT_US:706885006
xref: UMLS:C0022596
is_a: HP:0007556 ! Plantar hyperkeratosis
is_a: HP:0010765 ! Palmar hyperkeratosis

[Term]
id: HP:0000973
name: Cutis laxa
def: "Wrinkled, redundant, inelastic and sagging skin." [https://orcid.org/0000-0002-0736-9199]
synonym: "Chalazoderma" EXACT [https://en.wikipedia.org/wiki/cutis_laxa, https://orcid.org/0000-0001-6908-9849]
synonym: "Cutaneous laxity" EXACT []
synonym: "Dermatochalasia" EXACT [https://en.wikipedia.org/wiki/cutis_laxa, https://orcid.org/0000-0001-6908-9849]
synonym: "Dermatomegaly" EXACT [https://en.wikipedia.org/wiki/cutis_laxa, https://orcid.org/0000-0001-6908-9849]
synonym: "Elastolysis" EXACT []
synonym: "Generalised elastolysis" EXACT uk_spelling []
synonym: "Generalized elastolysis" EXACT [https://en.wikipedia.org/wiki/cutis_laxa, https://orcid.org/0000-0001-6908-9849]
synonym: "Hanging skin" BROAD layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Hypoelastic skin" EXACT []
synonym: "Inelastic skin" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Lax skin" EXACT []
synonym: "Loose and inelastic skin" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Loose skin" EXACT []
synonym: "Skin laxity" EXACT []
xref: SNOMEDCT_US:58588007
xref: UMLS:C0010495
xref: UMLS:C2930812
xref: UMLS:C4280606
is_a: HP:0008067 ! Abnormally lax or hyperextensible skin

[Term]
id: HP:0000974
name: Hyperextensible skin
alt_id: HP:0007389
alt_id: HP:0007493
alt_id: HP:0007578
def: "A condition in which the skin can be stretched beyond normal, and then returns to its initial position." [https://orcid.org/0009-0006-4530-3154]
comment: Skin hyperelasticity is to be distinguished from cutis laxa, which refers to extra, redundant skin which tends to hang in folds.
subset: hposlim_core
synonym: "Hyperelastic skin" EXACT layperson []
synonym: "Skin hyperelasticity" EXACT layperson []
synonym: "Skin hyperextensibility" EXACT []
synonym: "Stretchable skin" EXACT layperson []
xref: UMLS:C0241074
is_a: HP:0008067 ! Abnormally lax or hyperextensible skin

[Term]
id: HP:0000975
name: Hyperhidrosis
alt_id: HP:0001011
alt_id: HP:0001064
alt_id: HP:0007424
def: "Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather." [https://orcid.org/0000-0002-0736-9199]
comment: The terms hyperhidrosis and diaphoresis are often used interchangeably to describe excessive perspiration. Diaphoresis can be used to refer to excessive sweating that occurs with certain diseases (secondary hyperhidrosis). Since the HPO does not intend to provide coess for etiologies or diseases, we will use these terms interchangeably to refer to excessive perspiration without an appropriate cause such as hot and humid weather.
subset: hposlim_core
synonym: "Diaphoresis" EXACT []
synonym: "Excessive sweating" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Increased sweating" EXACT layperson []
synonym: "Profuse sweating" EXACT layperson []
synonym: "Sweating" EXACT layperson []
synonym: "Sweating profusely" EXACT layperson []
synonym: "Sweating, increased" EXACT layperson []
xref: MEDDRA:10020642 "Hyperhidrosis"
xref: SNOMEDCT_US:161857006
xref: SNOMEDCT_US:312230002
xref: SNOMEDCT_US:364538006
xref: SNOMEDCT_US:415690000
xref: SNOMEDCT_US:415691001
xref: SNOMEDCT_US:52613005
xref: UMLS:C0020458
xref: UMLS:C0038990
xref: UMLS:C0700590
is_a: HP:0007550 ! Hypohidrosis or hyperhidrosis

[Term]
id: HP:0000976
name: obsolete Eczematoid dermatitis
is_obsolete: true
replaced_by: HP:0000964

[Term]
id: HP:0000977
name: Soft skin
def: "Subjective impression of increased softness upon palpation of the skin." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Soft skin" EXACT layperson []
synonym: "Velvety skin" RELATED layperson []
synonym: "Velvety skin texture" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C0241178
xref: UMLS:C1844592
is_a: HP:0010647 ! Abnormal elasticity of skin

[Term]
id: HP:0000978
name: Bruising susceptibility
alt_id: HP:0000959
alt_id: HP:0007433
alt_id: HP:0007472
def: "An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma." [https://orcid.org/0000-0002-0736-9199]
comment: An ecchymosis is defined as being larger than 1 cm in size.
synonym: "Bruisability" EXACT []
synonym: "Bruise easily" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Bruising susceptibility" EXACT layperson []
synonym: "Easy bruisability" EXACT layperson []
synonym: "Easy bruising" EXACT layperson []
xref: SNOMEDCT_US:302227002
xref: SNOMEDCT_US:424131007
xref: SNOMEDCT_US:425075004
xref: SNOMEDCT_US:77643000
xref: UMLS:C0013491
xref: UMLS:C0423798
is_a: HP:0001933 ! Subcutaneous hemorrhage

[Term]
id: HP:0000979
name: Purpura
def: "Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae." [https://orcid.org/0000-0002-0736-9199, PMID:11515831]
comment: Depending on their size, purpuric lesions are traditionally classified as petechiae (pinpoint hemorrhages less than 2 mm in greatest diameter), purpura (2 mm to 1 cm) or ecchymoses (more than 1 cm).
subset: hposlim_core
synonym: "Blood spots" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Red or purple spots on the skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:12393003
xref: SNOMEDCT_US:387778001
xref: SNOMEDCT_US:423902002
xref: UMLS:C0034150
is_a: HP:0001933 ! Subcutaneous hemorrhage

[Term]
id: HP:0000980
name: Pallor
def: "Abnormally pale skin." [https://orcid.org/0000-0002-0736-9199]
synonym: "Paleness" RELATED layperson []
synonym: "Skin paleness" RELATED layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:398979000
xref: UMLS:C0030232
is_a: HP:0011121 ! Abnormal skin morphology

[Term]
id: HP:0000982
name: Palmoplantar keratoderma
def: "Abnormal thickening of the skin of the palms of the hands and the soles of the feet." [https://orcid.org/0000-0002-0736-9199]
synonym: "Keratoderma" EXACT []
synonym: "Palmar and plantar keratoderma" EXACT []
synonym: "Thickening of palms and soles" EXACT layperson []
xref: SNOMEDCT_US:706885006
xref: UMLS:C0022596
is_a: HP:0000972 ! Palmoplantar hyperkeratosis

[Term]
id: HP:0000987
name: Atypical scarring of skin
def: "Atypically scarred skin ." [https://orcid.org/0009-0006-4530-3154]
synonym: "Atypical scarring" EXACT layperson []
synonym: "Atypical scarring of skin" EXACT layperson []
xref: UMLS:C4021786
is_a: HP:0011355 ! Localized skin lesion
is_a: HP:0100699 ! Scarring

[Term]
id: HP:0000988
name: Skin rash
def: "A red eruption of the skin." [https://orcid.org/0000-0002-0736-9199]
synonym: "Rash" BROAD layperson []
synonym: "Skin rash" EXACT layperson []
xref: MEDDRA:10037844 "Rash"
xref: SNOMEDCT_US:112625008
xref: SNOMEDCT_US:271807003
xref: UMLS:C0015230
is_a: HP:0011123 ! Inflammatory abnormality of the skin

[Term]
id: HP:0000989
name: Pruritus
def: "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Itching" EXACT layperson []
synonym: "Itchy skin" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Skin itching" EXACT layperson []
xref: SNOMEDCT_US:279333002
xref: SNOMEDCT_US:418290006
xref: SNOMEDCT_US:418363000
xref: SNOMEDCT_US:424492005
xref: UMLS:C0033774
is_a: HP:0011122 ! Abnormality of skin physiology

[Term]
id: HP:0000991
name: Xanthomatosis
def: "The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin." [https://orcid.org/0000-0002-0736-9199]
synonym: "Xanthomata" EXACT []
synonym: "Yellow bumps of fatty deposits on skin" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:63103006
xref: UMLS:C0043325
is_a: HP:0011355 ! Localized skin lesion

[Term]
id: HP:0000992
name: Cutaneous photosensitivity
alt_id: HP:0005594
alt_id: HP:0006831
alt_id: HP:0007538
def: "An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Photosensitive skin" EXACT layperson []
synonym: "Photosensitive skin rashes" EXACT layperson []
synonym: "Photosensitivity" EXACT layperson []
synonym: "Sensitivity to sunlight" EXACT layperson []
synonym: "Skin photosensitivity" EXACT layperson []
synonym: "Sun sensitivity" EXACT layperson []
xref: SNOMEDCT_US:90128006
xref: UMLS:C0349506
is_a: HP:0011354 ! Generalized abnormality of skin

[Term]
id: HP:0000993
name: Molluscoid pseudotumors
def: "Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees." [https://orcid.org/0000-0002-0736-9199]
synonym: "Molluscoid pseudotumor" EXACT []
xref: UMLS:C1844597
is_a: HP:0011355 ! Localized skin lesion

[Term]
id: HP:0000995
name: Melanocytic nevus
def: "A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger." [https://orcid.org/0000-0002-0736-9199]
comment: Melanocytic nevi are commonly known as moles. The majority of moles appear during the first 20 to 30 years of a person's life, however, some may be present when the baby is born. The average human has from 10 to 14 moles. Moles can develop on the scalp, under the nails, armpits, virtually anywhere on the body. The total number of moles a person can have usually varies during his or her lifetime.
synonym: "Beauty mark" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Melanocytic naevus" EXACT []
synonym: "Melanocytic nevi" EXACT []
synonym: "Nevocellular nevi" EXACT []
synonym: "Noncancerous mole" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Pigmented naevi" EXACT []
synonym: "Pigmented nevi" EXACT []
xref: SNOMEDCT_US:21119008
xref: SNOMEDCT_US:400096001
xref: UMLS:C0027962
xref: UMLS:C4280269
is_a: HP:0001000 ! Abnormality of skin pigmentation
is_a: HP:0003764 ! Nevus

[Term]
id: HP:0000996
name: Facial capillary hemangioma
def: "Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face." []
xref: UMLS:C1858545
is_a: HP:0000329 ! Facial hemangioma
is_a: HP:0005306 ! Capillary hemangioma

[Term]
id: HP:0000997
name: Axillary freckling
def: "The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin." [PMID:12186179]
subset: hposlim_core
xref: UMLS:C1860335
is_a: HP:0001480 ! Freckling

[Term]
id: HP:0000998
name: Hypertrichosis
def: "Hypertrichosis is increased hair growth that is abnormal in quantity or location." [https://orcid.org/0000-0002-0736-9199]
synonym: "Excessive hair growth" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Increased hair growth on body" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:271607001
xref: SNOMEDCT_US:29966009
xref: UMLS:C0020555
is_a: HP:0011362 ! Abnormal hair quantity

[Term]
id: HP:0000999
name: Pyoderma
def: "Any manifestation of a skin disease associated with the production of pus." [https://orcid.org/0000-0002-0736-9199]
comment: Pyoderma is mainly seen with bacterial skin infections but can also be observed in autoimmune conditions.
synonym: "Pus-filled lesion" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:70759006
xref: UMLS:C0034212
is_a: HP:0005406 ! Recurrent bacterial skin infections

[Term]
id: HP:0001000
name: Abnormality of skin pigmentation
alt_id: HP:0007582
alt_id: HP:0200045
def: "An abnormality of the pigmentation of the skin." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormal pigmentation" EXACT layperson []
synonym: "Abnormal skin color" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Abnormal skin colour" EXACT uk_spelling []
synonym: "Abnormal skin pigmentation" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Abnormality of pigmentation" EXACT layperson []
synonym: "Abnormality of skin pigmentation" EXACT layperson []
synonym: "Pigmentary changes" EXACT layperson []
synonym: "Pigmentary skin changes" EXACT layperson []
synonym: "Pigmentation anomaly" EXACT layperson []
xref: UMLS:C1260926
is_a: HP:0011121 ! Abnormal skin morphology

[Term]
id: HP:0001001
name: Abnormality of subcutaneous fat tissue
synonym: "Abnormality of fatty tissue below the skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025813
is_a: HP:0009124 ! Abnormal adipose tissue morphology
is_a: HP:0011354 ! Generalized abnormality of skin

[Term]
id: HP:0001002
name: obsolete Decreased subcutaneous fat
is_obsolete: true
replaced_by: HP:0003758

[Term]
id: HP:0001003
name: Multiple lentigines
def: "Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots." [https://orcid.org/0000-0002-0736-9199]
comment: Lentigines are commonly (but not always) due to chronic sun exposure (solar lentigines; sometimes called liver spots) and occur most frequently on the face and back of the hands.
subset: hposlim_core
synonym: "Liver spots" NARROW layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:72100002
xref: UMLS:C0036651
xref: UMLS:C1328931
is_a: HP:0001034 ! Hypermelanotic macule

[Term]
id: HP:0001004
name: Lymphedema
alt_id: HP:0003605
def: "Localized fluid retention and tissue swelling caused by a compromised lymphatic system." [https://orcid.org/0009-0006-4530-3154]
synonym: "Lymphatic obstruction" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Lymphoedema" EXACT []
synonym: "Onset of lymphedema around puberty" EXACT []
synonym: "Swelling caused by excess lymph fluid under skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:234097001
xref: SNOMEDCT_US:30213001
xref: UMLS:C0024236
xref: UMLS:C0240278
xref: UMLS:C1835229
is_a: HP:0000969 ! Edema

[Term]
id: HP:0001005
name: Dermatological manifestations of systemic disorders
subset: secondary_consequence
xref: UMLS:C4025812
is_a: HP:0011354 ! Generalized abnormality of skin

[Term]
id: HP:0001006
name: obsolete Hypotrichosis
is_obsolete: true
replaced_by: HP:0008070

[Term]
id: HP:0001007
name: Hirsutism
def: "Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair)." [https://orcid.org/0009-0006-4530-3154]
synonym: "Excessive hairiness" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:399939002
xref: UMLS:C0019572
is_a: HP:0011362 ! Abnormal hair quantity

[Term]
id: HP:0001008
name: Accumulation of melanosomes in melanocytes
xref: UMLS:C1843389
is_a: HP:0011125 ! Abnormality of dermal melanosomes

[Term]
id: HP:0001009
name: Telangiectasia
alt_id: HP:0001079
def: "Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips." [https://orcid.org/0000-0002-0736-9199]
synonym: "Spider veins" RELATED layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Telangiectases" EXACT []
xref: SNOMEDCT_US:112641009
xref: SNOMEDCT_US:247479008
xref: UMLS:C0039446
xref: UMLS:C1138421
is_a: HP:0011276 ! Vascular skin abnormality

[Term]
id: HP:0001010
name: Hypopigmentation of the skin
alt_id: HP:0005589
alt_id: HP:0007604
alt_id: HP:0007622
def: "A reduction of skin color related to a decrease in melanin production and deposition." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypopigmentation" EXACT []
synonym: "Hypopigmented skin" EXACT []
synonym: "Patchy lightened skin" EXACT layperson []
synonym: "Skin hypopigmentation" RELATED []
xref: SNOMEDCT_US:18655006
xref: SNOMEDCT_US:201284005
xref: SNOMEDCT_US:23006000
xref: SNOMEDCT_US:89031001
xref: UMLS:C0162835
is_a: HP:0001000 ! Abnormality of skin pigmentation

[Term]
id: HP:0001011
name: obsolete Diaphoresis (with pheochromocytoma)
is_obsolete: true
replaced_by: HP:0000975

[Term]
id: HP:0001012
name: Multiple lipomas
def: "The presence of multiple lipomas (a type of benign tissue made of fatty tissue)." [https://orcid.org/0009-0006-4530-3154]
comment: A lipoma is a benign tumor composed of fatty tissue. They are the most common form of soft tissue tumor and are usually soft to the touch, movable, and generally painless (but there is a separate entity of painful multiple lipomas which is a hereditary disease called Dercum disease or adiposis dolorosa). Many lipomas are small (under one centimeter diameter) but can enlarge to sizes greater than six centimeters. Lipomas are commonly found in adults from 40 to 60 years of age, but can also be found in children.
synonym: "Lipomas" RELATED []
synonym: "Lipomatosis" RELATED []
synonym: "Multiple fatty lumps" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: NCIT:C3192
xref: SNOMEDCT_US:404062002
xref: SNOMEDCT_US:46720004
xref: SNOMEDCT_US:93163002
xref: UMLS:C0023798
xref: UMLS:C0745730
is_a: HP:0012031 ! Lipomatous tumor

[Term]
id: HP:0001013
name: Eruptive xanthomas
def: "Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur." [PMID:12165227, PMID:22375975]
comment: Eruptive xanthomas occur in the setting of chylomicronemia and hypertriglyceridemia.
xref: SNOMEDCT_US:238952003
xref: UMLS:C0221252
is_a: HP:0000991 ! Xanthomatosis

[Term]
id: HP:0001014
name: Angiokeratoma
def: "Angiokeratomas are hyperkeratotic papules that are characterized histologically by superficial ectatic (i.e., dilated) blood vessels with epidermal proliferation. Clinically, angiokeratoma presents as a small, raised, dark-red spot." [https://orcid.org/0000-0002-0736-9199, PMID:8993949]
comment: Angiokeratomas occur clinically as 1 of 5 different subtypes.
synonym: "Angiokeratomas" EXACT []
xref: SNOMEDCT_US:26810009
xref: UMLS:C0002985
is_a: HP:0011276 ! Vascular skin abnormality

[Term]
id: HP:0001015
name: Prominent superficial veins
def: "A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticeable than normal." []
comment: See Figure 4 of PMID:24456199
synonym: "Marked subcutaneous veins" EXACT []
synonym: "Prominent veins" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1837785
is_a: HP:0002624 ! Abnormal venous morphology
is_a: HP:0007394 ! Prominent superficial blood vessels

[Term]
id: HP:0001017
name: Anemic pallor
def: "A type of pallor that is secondary to the presence of anemia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Anaemic pallor" EXACT uk_spelling []
xref: UMLS:C4025811
is_a: HP:0000980 ! Pallor

[Term]
id: HP:0001018
name: Abnormal palmar dermatoglyphics
def: "An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025810
is_a: HP:0007477 ! Abnormal dermatoglyphics
is_a: HP:0040211 ! Abnormal skin morphology of the palm

[Term]
id: HP:0001019
name: Erythroderma
def: "An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever." [https://orcid.org/0000-0002-0736-9199, PMID:11606915, PMID:25710899, PMID:25882661, PMID:32555205, PMID:35238435]
comment: Erythroderma can occur at any age. Erythroderma with a congenital or neonatal onset has a different differential diagnosis than adult-onset erythroderma. Several skin disorders may culminate with erythroderma: seborrheic dermatitis/sarcoidosis; contact (allergic or irritant) dermatitis (eg, stasis dermatitis with generalization); atopic dermatitis/autoimmune disease (systemic lupus/dermatomyositis/bullous pemphigoid/pemphigus foliaceus/lichen planus/graft-versus-host disease); lymphoma/leukemia (including Sézary syndrome); psoriasis, including Reiter syndrome/pityriasis rubra pilaris (PRP); infections (human immunodeficiency virus, dermatophytosis), ichthyoses, infestations (Norwegian scabies); drug reactions. Some cases are also associated with erosions (loss of epidermis with an epidermal base), crusting (serous, sanguineous, or pustular), and the potential for hair and nail changes. Exfoliative dermatitis and erythroderma (the preferred term) have been used synonymously in the literature.
synonym: "Exfoliative dermititis" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Generalised erythroderma" EXACT uk_spelling []
synonym: "Generalised erythrodermia" EXACT uk_spelling []
synonym: "Generalized erythroderma" EXACT []
synonym: "Generalized erythrodermia" EXACT []
synonym: "Red scaly skin caused by inflammatory skin disease" BROAD layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:200948000
xref: SNOMEDCT_US:396349005
xref: SNOMEDCT_US:396350005
xref: SNOMEDCT_US:399992009
xref: SNOMEDCT_US:400005007
xref: UMLS:C0011606
is_a: HP:0011123 ! Inflammatory abnormality of the skin

[Term]
id: HP:0001022
name: Albinism
def: "An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina)." [https://orcid.org/0009-0006-4530-3154]
synonym: "Achromasia" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Albinism" EXACT layperson []
xref: SNOMEDCT_US:15890002
xref: SNOMEDCT_US:18064000
xref: UMLS:C0001916
xref: UMLS:C0333913
is_a: HP:0005599 ! Hypopigmentation of hair
is_a: HP:0007513 ! Generalized hypopigmentation

[Term]
id: HP:0001024
name: Skin dimple over apex of long bone angulation
xref: UMLS:C1855815
is_a: HP:0010781 ! Skin dimple

[Term]
id: HP:0001025
name: Urticaria
def: "Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Hives" EXACT layperson []
xref: MEDDRA:10046735 "Urticaria"
xref: SNOMEDCT_US:126485001
xref: SNOMEDCT_US:247472004
xref: SNOMEDCT_US:64305001
xref: UMLS:C0042109
is_a: HP:0011276 ! Vascular skin abnormality

[Term]
id: HP:0001026
name: Penetrating foot ulcers
synonym: "Penetrating foot ulcers" EXACT layperson []
xref: UMLS:C4025809
is_a: HP:0200042 ! Skin ulcer

[Term]
id: HP:0001027
name: Soft, doughy skin
def: "A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough." []
synonym: "Soft, doughy skin" EXACT layperson []
xref: UMLS:C1849043
is_a: HP:0000977 ! Soft skin

[Term]
id: HP:0001028
name: Hemangioma
alt_id: HP:0007444
def: "A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hemangiomata" RELATED []
synonym: "Strawberry mark" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: NCIT:C3085
xref: SNOMEDCT_US:2099007
xref: SNOMEDCT_US:253053003
xref: SNOMEDCT_US:400210000
xref: UMLS:C0018916
is_a: HP:0100742 ! Vascular neoplasm

[Term]
id: HP:0001029
name: Poikiloderma
def: "Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias." [https://orcid.org/0000-0002-0736-9199, PMID:32363096]
comment: Poikiloderma does not refer to a specific disease entity, but can be seen owing to a number of different causes. See Figure 2 of PMID:32363096.
subset: hposlim_core
xref: MEDDRA:10057041 "Poikiloderma"
xref: SNOMEDCT_US:402685001
xref: SNOMEDCT_US:70114006
xref: UMLS:C0392777
is_a: HP:0011121 ! Abnormal skin morphology

[Term]
id: HP:0001030
name: Fragile skin
def: "Skin that splits easily with minimal injury." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Fragile skin" EXACT layperson []
synonym: "Skin fragility" EXACT layperson []
xref: MEDDRA:10040851 "Skin fragility"
xref: SNOMEDCT_US:247427007
xref: UMLS:C0241181
is_a: HP:0011354 ! Generalized abnormality of skin

[Term]
id: HP:0001031
name: Subcutaneous lipoma
def: "The presence of subcutaneous lipoma." [https://orcid.org/0000-0002-0736-9199]
xref: NCIT:C3192
xref: UMLS:C1403035
is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue
is_a: HP:0001012 ! Multiple lipomas
is_a: HP:0008069 ! Neoplasm of the skin

[Term]
id: HP:0001032
name: Absent distal interphalangeal creases
def: "Absence of the distal interphalangeal flexion creases of the fingers." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absence of skin creases over distal interphalangeal joints" EXACT []
synonym: "Aplasia of the distal interphalangeal creases" EXACT []
synonym: "Distal finger flexion creases absent" EXACT []
xref: UMLS:C1861349
is_a: HP:0006109 ! Absent phalangeal crease

[Term]
id: HP:0001033
name: Facial flushing after alcohol intake
subset: secondary_consequence
synonym: "Facial flushing after alcohol intake" EXACT layperson []
xref: UMLS:C4025808
is_a: HP:0031284 ! Flushing

[Term]
id: HP:0001034
name: Hypermelanotic macule
alt_id: HP:0007442
alt_id: HP:0007491
alt_id: HP:0007492
alt_id: HP:0100815
alt_id: HP:0200031
alt_id: HP:0200033
def: "A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size." [https://orcid.org/0000-0003-1773-4011]
synonym: "Hyperpigmented macules" EXACT []
synonym: "Hyperpigmented skin patches" RELATED layperson []
synonym: "Hyperpigmented spots" EXACT layperson []
xref: UMLS:C1842774
is_a: HP:0007400 ! Irregular hyperpigmentation
is_a: HP:0012733 ! Macule

[Term]
id: HP:0001036
name: Parakeratosis
def: "Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes." [https://orcid.org/0000-0002-0736-9199]
comment: Persistence of the nuclei of keratinocytes as they rise into the stratum corneum of the epidermis. Parakeratosis is observed as scaling in many conditions such as psoriasis.
xref: SNOMEDCT_US:200766001
xref: SNOMEDCT_US:65068000
xref: UMLS:C0030436
is_a: HP:0011368 ! Epidermal thickening

[Term]
id: HP:0001038
name: Warfarin-induced skin necrosis
subset: secondary_consequence
xref: UMLS:C1867638
is_a: HP:0001005 ! Dermatological manifestations of systemic disorders

[Term]
id: HP:0001039
name: Atheroeruptive xanthoma
xref: UMLS:C4025807
is_a: HP:0000991 ! Xanthomatosis

[Term]
id: HP:0001040
name: Multiple pterygia
xref: UMLS:C1867448
is_a: HP:0001059 ! Pterygium

[Term]
id: HP:0001041
name: Facial erythema
alt_id: HP:0001068
def: "Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin." [https://orcid.org/0000-0002-0736-9199]
synonym: "Blushed cheeks" EXACT layperson []
synonym: "Blushing" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Red face" EXACT layperson []
synonym: "Red in the face" EXACT layperson []
synonym: "Rosacea" NARROW layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Ruddy face" RELATED layperson []
xref: SNOMEDCT_US:20255002
xref: SNOMEDCT_US:271811009
xref: SNOMEDCT_US:398909004
xref: UMLS:C0005874
xref: UMLS:C0035854
xref: UMLS:C0239488
xref: UMLS:C4020880
is_a: HP:0010783 ! Erythema

[Term]
id: HP:0001042
name: High axial triradius
xref: UMLS:C4025806
is_a: HP:0001018 ! Abnormal palmar dermatoglyphics

[Term]
id: HP:0001043
name: Prominent scalp veins
synonym: "Prominent scalp veins" EXACT layperson []
xref: UMLS:C1856542
is_a: HP:0001015 ! Prominent superficial veins
is_a: HP:0001965 ! Abnormal scalp morphology
is_a: HP:3000036 ! Abnormal head blood vessel morphology

[Term]
id: HP:0001045
name: Vitiligo
synonym: "Blotchy loss of skin color" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Blotchy loss of skin colour" EXACT uk_spelling []
xref: SNOMEDCT_US:56727007
xref: UMLS:C0042900
is_a: HP:0001000 ! Abnormality of skin pigmentation

[Term]
id: HP:0001046
name: Intermittent jaundice
def: "Jaundice that is sometimes present, sometimes not." [https://orcid.org/0000-0002-0736-9199]
subset: secondary_consequence
synonym: "Intermittent icterus" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Intermittent yellow skin" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Intermittent yellowing of skin" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4025805
is_a: HP:0000952 ! Jaundice

[Term]
id: HP:0001047
name: Atopic dermatitis
alt_id: HP:0007533
alt_id: HP:0007564
def: "Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage." [https://orcid.org/0000-0002-0736-9199, PMID:27904186]
comment: In infants, atopic dermatitis is known as infantile eczema.
synonym: "Allergic eczema" EXACT []
synonym: "Atopic dermatitis, chronic" EXACT []
synonym: "Atopic eczema" EXACT []
synonym: "Baby eczema" RELATED layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Dermatitis, Atopic" EXACT []
synonym: "Infantile eczema" EXACT []
synonym: "Neurodermatitis" EXACT []
synonym: "Prurigo Besnier" EXACT []
xref: SNOMEDCT_US:200775004
xref: SNOMEDCT_US:24079001
xref: UMLS:C0011615
xref: UMLS:C4280605
is_a: HP:0000964 ! Eczematoid dermatitis

[Term]
id: HP:0001048
name: Cavernous hemangioma
def: "The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Cavernous angioma" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Cavernous haemangioma" EXACT []
synonym: "Collection of dilated blood vessels that forms mass" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MEDDRA:10055899 "Haemangioma cavernous"
xref: NCIT:C3086
xref: SNOMEDCT_US:33377007
xref: SNOMEDCT_US:416824008
xref: SNOMEDCT_US:56975005
xref: UMLS:C0018920
is_a: HP:0001028 ! Hemangioma

[Term]
id: HP:0001049
name: Absent dorsal skin creases over affected joints
xref: UMLS:C1861400
is_a: HP:0006143 ! Abnormal finger flexion crease

[Term]
id: HP:0001050
name: Plethora
comment: Related to polycythemia.
xref: SNOMEDCT_US:75246004
xref: UMLS:C0232370
is_a: HP:0001005 ! Dermatological manifestations of systemic disorders

[Term]
id: HP:0001051
name: Seborrheic dermatitis
alt_id: HP:0007562
def: "Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk." [https://orcid.org/0000-0002-0736-9199]
comment: Dandruff.
synonym: "Dysseborrheic dermatitis" RELATED []
synonym: "Seborrhea" EXACT []
synonym: "Seborrheic eczema" EXACT []
xref: SNOMEDCT_US:50563003
xref: SNOMEDCT_US:86708008
xref: UMLS:C0036508
xref: UMLS:C3806554
is_a: HP:0000964 ! Eczematoid dermatitis

[Term]
id: HP:0001052
name: Nevus flammeus
def: "A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin." [https://orcid.org/0009-0006-4530-3154, PMID:22483320]
comment: Port-wine stains generally become deeper, thicker, and darker in color over time, mainly as a result of progressive vascular dilatation. As a result of these changes, which are generally much more evident on the face, patients often develop hypertrophy and nodularity after the third or fourth decade of life. The fact that nodules are only found on the face and do not occur in childhood has led some authors to suggest that port-wine stains might actually be hamartomatous lesions.
subset: hposlim_core
synonym: "Nevus simplex" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "port-wine stain" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
xref: MEDDRA:10067193 "Naevus flammeus"
xref: SNOMEDCT_US:254211001
xref: SNOMEDCT_US:416377005
xref: UMLS:C0235752
is_a: HP:0003764 ! Nevus
is_a: HP:0025104 ! Capillary malformation

[Term]
id: HP:0001053
name: Hypopigmented skin patches
synonym: "Patchy loss of skin color" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Patchy loss of skin colour" EXACT uk_spelling []
xref: UMLS:C1836735
is_a: HP:0001010 ! Hypopigmentation of the skin
is_a: HP:0011355 ! Localized skin lesion

[Term]
id: HP:0001054
name: Numerous nevi
synonym: "Multiple pigmented nevi" EXACT []
synonym: "Numerous moles" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1849677
is_a: HP:0003764 ! Nevus

[Term]
id: HP:0001055
name: Erysipelas
def: "Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "St. Anthony's Fire" RELATED []
xref: MEDDRA:10015145 "Erysipelas"
xref: SNOMEDCT_US:44653001
xref: SNOMEDCT_US:51510002
xref: UMLS:C0014714
xref: UMLS:C0014733
is_a: HP:0011123 ! Inflammatory abnormality of the skin

[Term]
id: HP:0001056
name: Milia
def: "Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin." [https://orcid.org/0000-0002-0736-9199]
comment: Milia are a normal finding in newborn babies (40-50%), often occurring around the nose.
subset: hposlim_core
synonym: "Milk spot" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Millium cyst" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:254679001
xref: SNOMEDCT_US:254683001
xref: SNOMEDCT_US:37719003
xref: UMLS:C0345996
is_a: HP:0011355 ! Localized skin lesion

[Term]
id: HP:0001057
name: Aplasia cutis congenita
def: "A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Absence of part of skin at birth" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Congenital absence of skin" EXACT [https://en.wikipedia.org/wiki/aplasia_cutis_congenita, https://orcid.org/0000-0001-5208-3432]
synonym: "Congenital scars" BROAD [https://en.wikipedia.org/wiki/aplasia_cutis_congenita, https://orcid.org/0000-0001-5208-3432]
synonym: "Cutis aplasia" EXACT [https://en.wikipedia.org/wiki/aplasia_cutis_congenita, https://orcid.org/0000-0001-5208-3432]
xref: MEDDRA:10002963 "Aplasia cutis congenita"
xref: SNOMEDCT_US:254237003
xref: SNOMEDCT_US:35484002
xref: SNOMEDCT_US:74223008
xref: UMLS:C0265989
xref: UMLS:C0282160
is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin

[Term]
id: HP:0001058
name: Poor wound healing
def: "A reduced ability to heal cutaneous wounds." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Poor wound healing" EXACT layperson []
xref: UMLS:C1851789
is_a: HP:0011354 ! Generalized abnormality of skin

[Term]
id: HP:0001059
name: Pterygium
def: "Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits." [https://orcid.org/0000-0002-0736-9199]
synonym: "Pterygia" EXACT plural_form []
xref: SNOMEDCT_US:77489003
xref: UMLS:C0033999
is_a: HP:0001367 ! Abnormal joint morphology
is_a: HP:0011356 ! Regional abnormality of skin

[Term]
id: HP:0001060
name: Axillary pterygium
def: "Presence of a cutaneous membrane (flap) in the armpit." []
synonym: "Axillary pterygia" EXACT plural_form []
xref: UMLS:C1844738
is_a: HP:0001059 ! Pterygium

[Term]
id: HP:0001061
name: Acne
alt_id: HP:0005596
def: "A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts)." [https://orcid.org/0000-0002-0736-9199]
comment: Acne can be a consequence of increased sebum production as a result of increased testosterone production (in males and females) during puberty. Blockage of hair follicles canresult from accumulating keratin and sebum, resulting in plug formation called microcomedone, which can enlarge just beneath the surface of the skin in the pore itself. It may become visible as a closed comedone (whitehead), a firm white papule. Further enlargement leads to an open comedone (blackhead). The comedones are not themselves inflammatory. Proprionibacterium acnes can induce inflammation, leding to an inflammed, red papule.
subset: hposlim_core
synonym: "Acne" EXACT layperson []
synonym: "Breaking out" BROAD layperson []
xref: MEDDRA:10000496 "Acne"
xref: SNOMEDCT_US:11381005
xref: UMLS:C0702166
is_a: HP:0011123 ! Inflammatory abnormality of the skin

[Term]
id: HP:0001062
name: Atypical nevus
def: "A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink." [https://orcid.org/0000-0002-0736-9199]
comment: Macular and papular areas may be present within a single lesion (also described as a fried egg appearance). The terms atypical moles and dysplastic nevi are used interchangeably, regardless of clinical or histologic appearance.
synonym: "Atypical mole" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Dysplastic Nevus" RELATED []
xref: SNOMEDCT_US:254818000
xref: SNOMEDCT_US:61814002
xref: UMLS:C0205748
is_a: HP:0003764 ! Nevus

[Term]
id: HP:0001063
name: Acrocyanosis
def: "Bluish discoloration of the skin of the hands or feet." [PMID:32644593]
comment: Cyanosis is caused by increased levels of deoxygenated hemoglobin.
synonym: "Persistent blue color of hands or feet" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Persistent blue colour of hands or feet" EXACT uk_spelling []
xref: SNOMEDCT_US:25003006
xref: UMLS:C0221347
is_a: HP:0034033 ! Peripheral cyanosis

[Term]
id: HP:0001065
name: Striae distensae
alt_id: HP:0001023
alt_id: HP:0001066
alt_id: HP:0100680
def: "Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Purplish striae" EXACT []
synonym: "Stretch marks" EXACT layperson []
synonym: "Striae" EXACT []
synonym: "Striae atrophicae" EXACT []
synonym: "Striae cutis distensae" EXACT []
xref: MEDDRA:10040925 "Skin striae"
xref: SNOMEDCT_US:201066002
xref: SNOMEDCT_US:201067006
xref: SNOMEDCT_US:47212006
xref: UMLS:C0152459
is_a: HP:0004334 ! Dermal atrophy
is_a: HP:0100679 ! Lack of skin elasticity

[Term]
id: HP:0001067
name: Neurofibroma
alt_id: HP:0006746
alt_id: HP:0007386
alt_id: HP:0007612
alt_id: HP:0009595
def: "A benign peripheral nerve sheath tumor that generally appears as a soft, skin-colored papule or small subcutaneous nodule. Individuals with neurofibromatosis can have numerous neurofibromas." [https://orcid.org/0000-0002-0736-9199, PMID:30969529]
synonym: "multiple neurofibromas" RELATED []
synonym: "Neurofibromata" EXACT []
synonym: "Neurofibromatosis" EXACT []
xref: NCIT:C3272
xref: SNOMEDCT_US:19133005
xref: SNOMEDCT_US:81669005
xref: UMLS:C0162678
is_a: HP:0008069 ! Neoplasm of the skin
is_a: HP:0010614 ! Fibroma
is_a: HP:0100007 ! Neoplasm of the peripheral nervous system

[Term]
id: HP:0001069
name: Episodic hyperhidrosis
def: "Intermittent episodes of abnormally increased perspiration." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hyperhidrosis, episodic" EXACT []
synonym: "Sporadic excessive sweating" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1857171
is_a: HP:0000975 ! Hyperhidrosis

[Term]
id: HP:0001070
name: Mottled pigmentation
alt_id: HP:0007584
def: "Patchy and irregular skin pigmentation." [https://orcid.org/0000-0002-0736-9199]
synonym: "Mottled skin coloring" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Mottled skin colouring" EXACT uk_spelling []
synonym: "Stippled pigmentation" RELATED []
xref: UMLS:C0860439
xref: UMLS:C4020879
is_a: HP:0001000 ! Abnormality of skin pigmentation

[Term]
id: HP:0001071
name: Angiokeratoma corporis diffusum
def: "Angiokeratoma corporis diffusum (ACD) is typically characterized by innumerable small red to black papules which occur in clusters and are situated symmetrically in the bathing trunks area. The number of lesions and the extension of the body increase steadily with time so that generalization and mucosal involvement are common. The single lesion begins with a minute reddish papule which enlarges to up to 10 mm in diameter, becomes dark red to black with a discrete keratotic overgrowth. Histologically, the papules are characterized by superficial dilated capillaries in papillary dermis with epidermal proliferation." []
comment: Angiokeratoma corporis diffusum (ACD) commonly occurs in Fabry disease and the term ACD was previously used synonymously with Fabry disease (OMIM:301500). However, ACD can also occur with other diseases related to deficiencies of enzymes that are involved in the metabolism of glycoproteins, including fucosidosis, sialidosis, mannosidosis, GM1 gangliosidosis, and Kanzaki disease.
synonym: "Fabry syndrome" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:124464003
xref: SNOMEDCT_US:16652001
xref: UMLS:C0002986
is_a: HP:0001014 ! Angiokeratoma

[Term]
id: HP:0001072
name: Thickened skin
alt_id: HP:0007393
def: "Laminar thickening of skin." [https://orcid.org/0009-0006-4530-3154]
subset: hposlim_core
synonym: "Diffusely thickened skin" RELATED layperson []
synonym: "Pachydermia" EXACT []
synonym: "Thick skin" EXACT layperson []
synonym: "Thickened skin" EXACT layperson []
xref: MEDDRA:10040936 "Skin thickening"
xref: SNOMEDCT_US:17417006
xref: SNOMEDCT_US:69943009
xref: UMLS:C0334008
xref: UMLS:C4020878
is_a: HP:0011121 ! Abnormal skin morphology

[Term]
id: HP:0001073
name: Cigarette-paper scars
def: "Thin (atrophic) and wide scars." [https://orcid.org/0000-0002-0736-9199]
comment: Cigarette-paper scars are atrophic scars in the skin at sites of minor lacerations over the knees, shins, and elbows.
subset: hposlim_core
synonym: "Cigarette paper scarring" EXACT layperson []
synonym: "Cigarette-paper scars" EXACT layperson []
xref: UMLS:C1851828
is_a: HP:0001075 ! Atrophic scars

[Term]
id: HP:0001074
name: Atypical nevi in non-sun exposed areas
xref: UMLS:C4021837
is_a: HP:0003764 ! Nevus

[Term]
id: HP:0001075
name: Atrophic scars
alt_id: HP:0007567
def: "Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Sunken or indented skin due to damage" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Thin, atrophic scars" EXACT []
xref: SNOMEDCT_US:239172000
xref: SNOMEDCT_US:409766009
xref: UMLS:C0162154
is_a: HP:0000987 ! Atypical scarring of skin
is_a: HP:0004334 ! Dermal atrophy

[Term]
id: HP:0001076
name: Glabellar hemangioma
synonym: "Glabellar capillary hemangioma" EXACT []
xref: UMLS:C1854408
is_a: HP:0001028 ! Hemangioma

[Term]
id: HP:0001080
name: Biliary tract abnormality
def: "An abnormality of the biliary tree." [https://orcid.org/0000-0002-0736-9199]
synonym: "Biliary tract disease" RELATED []
xref: SNOMEDCT_US:105997008
xref: UMLS:C0005424
xref: UMLS:C0549613
is_a: HP:0004297 ! Abnormality of the biliary system

[Term]
id: HP:0001081
name: Cholelithiasis
def: "Hard, pebble-like deposits that form within the gallbladder." [https://orcid.org/0000-0002-0736-9199]
comment: Gallstones range in size from as small as a grain of sand to as large as a golf ball. Cholesterol gallstones are the most common type of gallstone. Gallstones resulting from too much bilirubin in the bile are referred to as pigment stones.
synonym: "Gallstones" EXACT layperson []
xref: SNOMEDCT_US:266474003
xref: UMLS:C0008350
is_a: HP:0012437 ! Abnormal gallbladder morphology

[Term]
id: HP:0001082
name: Cholecystitis
def: "The presence of inflammatory changes in the gallbladder." [https://orcid.org/0000-0002-0736-9199]
synonym: "Gallbladder inflammation" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:76581006
xref: UMLS:C0008325
is_a: HP:0012438 ! Abnormal gallbladder physiology

[Term]
id: HP:0001083
name: Ectopia lentis
alt_id: HP:0000665
alt_id: HP:0007637
alt_id: HP:0007882
alt_id: HP:0008016
def: "Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of lens position" EXACT []
synonym: "Lens dislocation" EXACT []
xref: SNOMEDCT_US:74969002
xref: UMLS:C0013581
xref: UMLS:C0023309
is_a: HP:0000517 ! Abnormal lens morphology

[Term]
id: HP:0001084
name: Corneal arcus
alt_id: HP:0100741
def: "A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years." [https://orcid.org/0000-0002-0736-9199]
comment: A gray opaque line which surrounds the margin of the cornea caused by lipid deposits.
synonym: "Anterior embryotoxon" EXACT []
synonym: "Arcus juvenilis" RELATED []
synonym: "Arcus lipoidis" EXACT []
synonym: "Arcus senilis" EXACT []
synonym: "Corneal annulus" EXACT []
synonym: "Gerontoxon" EXACT []
xref: SNOMEDCT_US:111522004
xref: SNOMEDCT_US:231924000
xref: SNOMEDCT_US:231925004
xref: UMLS:C0003742
xref: UMLS:C0339268
is_a: HP:0008011 ! Peripheral opacification of the cornea

[Term]
id: HP:0001085
name: Papilledema
alt_id: HP:0001130
def: "Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure." [https://orcid.org/0000-0002-0736-9199]
comment: The borders of the optic disc are normally clear and well defined upon fundoscopic examination. Papilledema is optic disc swelling that can lead to the blurring of optic margins and elevation of optic disc.
subset: hposlim_core
synonym: "Papillitis" RELATED []
xref: SNOMEDCT_US:248487006
xref: SNOMEDCT_US:423341008
xref: SNOMEDCT_US:73221001
xref: UMLS:C0030353
is_a: HP:0012795 ! Abnormal optic disc morphology

[Term]
id: HP:0001087
name: Developmental glaucoma
def: "Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma." []
synonym: "Childhood glaucoma" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Infantile glaucoma" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Paediatric glaucoma" EXACT uk_spelling []
synonym: "Pediatric glaucoma" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:204113001
xref: SNOMEDCT_US:413728006
xref: UMLS:C0020302
is_a: HP:0000501 ! Glaucoma
is_a: HP:0007700 ! Ocular anterior segment dysgenesis

[Term]
id: HP:0001088
name: Brushfield spots
def: "The presence of whitish spots in a ring-like arrangement at the periphery of the iris." [https://orcid.org/0000-0002-0736-9199]
comment: Brushfield spots are relatively common in the general population but opccur more frequently in persons with certain disorders (especially Down syndrome).
subset: hposlim_core
synonym: "Iris brushfield spots" EXACT []
synonym: "Speckled iris" RELATED layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:400960002
xref: UMLS:C1303007
xref: UMLS:C4280604
is_a: HP:0008034 ! Abnormal iris pigmentation

[Term]
id: HP:0001089
name: Iris atrophy
def: "Loss of iris tissue (atrophy)" [https://orcid.org/0000-0002-0736-9199]
synonym: "Iris degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:95709007
xref: UMLS:C0423319
is_a: HP:0000525 ! Abnormality iris morphology

[Term]
id: HP:0001090
name: Abnormally large globe
alt_id: HP:0200093
def: "Diffusely large eye (with megalocornea) without glaucoma." [https://orcid.org/0000-0002-0736-9199]
comment: Note that Increased size of palpebral fissues is not a synonym of this term.
synonym: "Increased size of eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased size of palpebral fissures" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Large eyeballs" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Large eyes" EXACT layperson []
synonym: "Large of palpebral fissures" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Megalophthalmos" EXACT []
xref: SNOMEDCT_US:246920008
xref: UMLS:C0423221
xref: UMLS:C1855852
xref: UMLS:C4280603
is_a: HP:0100887 ! Abnormality of globe size

[Term]
id: HP:0001092
name: Absent lacrimal punctum
alt_id: HP:0007977
def: "No identifiable superior and/or inferior lacrimal punctum." [PMID:19125427]
comment: The lacrimal puncta (openings of the tear ducts) are normally located at the medial margin of each eyelid. The opening on the lower eyelid border is more visible than the opening on the upper eyelid border.
subset: hposlim_core
synonym: "Absent lacrimal gland puncta" EXACT []
synonym: "Absent lacrimal openings" EXACT []
synonym: "Absent lacrimal puncta" EXACT []
synonym: "Agenesis of the lacrimal punctum" RELATED []
synonym: "Aplasia of lacrimal puncta" EXACT []
synonym: "Lacrimal puncta aplasia" EXACT []
synonym: "Lacrimal punctum, absence" EXACT []
xref: SNOMEDCT_US:204208005
xref: SNOMEDCT_US:253217007
xref: UMLS:C0344509
xref: UMLS:C1867060
is_a: HP:0011479 ! Abnormal lacrimal punctum morphology

[Term]
id: HP:0001093
name: Optic nerve dysplasia
def: "The presence of developmental dysplasia of the optic nerve." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C2676026
is_a: HP:0000587 ! Abnormal optic nerve morphology

[Term]
id: HP:0001094
name: Iridocyclitis
def: "A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:77971008
xref: UMLS:C0022073
is_a: HP:0012122 ! Anterior uveitis

[Term]
id: HP:0001095
name: Hypertensive retinopathy
subset: secondary_consequence
xref: SNOMEDCT_US:6962006
xref: UMLS:C0152132
is_a: HP:0008046 ! Abnormal retinal vascular morphology

[Term]
id: HP:0001096
name: Keratoconjunctivitis
def: "Inflammation of the cornea and conjunctiva." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
xref: SNOMEDCT_US:88151007
xref: UMLS:C0022573
is_a: HP:0000491 ! Keratitis
is_a: HP:0000509 ! Conjunctivitis

[Term]
id: HP:0001097
name: Keratoconjunctivitis sicca
def: "Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Dry eye syndrome" RELATED layperson []
synonym: "Dry eyes" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Keratitis sicca" EXACT []
synonym: "Xerophthalmia" EXACT []
xref: SNOMEDCT_US:302896008
xref: SNOMEDCT_US:363677007
xref: SNOMEDCT_US:46152009
xref: UMLS:C0013238
xref: UMLS:C0022575
xref: UMLS:C0043349
xref: UMLS:C2930821
is_a: HP:0001096 ! Keratoconjunctivitis

[Term]
id: HP:0001098
name: Abnormal fundus morphology
def: "Any structural abnormality of the fundus of the eye." []
synonym: "Abnormality of the fundus" EXACT []
xref: UMLS:C4025804
is_a: HP:0004329 ! Abnormal posterior eye segment morphology

[Term]
id: HP:0001099
name: Fundus atrophy
xref: UMLS:C2673929
is_a: HP:0001098 ! Abnormal fundus morphology

[Term]
id: HP:0001100
name: Heterochromia iridis
def: "Heterochromia iridis is a difference in the color of the iris in the two eyes." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Different colored eyes" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Different coloured eyes" EXACT uk_spelling []
synonym: "Heterochromia irides" EXACT []
xref: SNOMEDCT_US:247033008
xref: UMLS:C0423318
is_a: HP:0200064 ! Asymmetry of iris pigmentation

[Term]
id: HP:0001101
name: Iritis
def: "Inflammation of the iris." [https://orcid.org/0000-0002-0736-9199]
synonym: "Inflammation of iris" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:65074000
xref: UMLS:C0022081
is_a: HP:0000525 ! Abnormality iris morphology

[Term]
id: HP:0001102
name: Angioid streaks of the fundus
def: "Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123, PMID:30844178]
comment: Angioid streaks result from breaks in a weakened Bruch's membrane.
synonym: "Angioid streaks" EXACT []
synonym: "Angioid streaks of the retina" EXACT []
synonym: "Angioid streaks, retina" EXACT []
synonym: "Knapp streaks" EXACT []
synonym: "Laquer cracks of the retina" EXACT []
xref: UMLS:C0002982
is_a: HP:0000479 ! Abnormal retinal morphology

[Term]
id: HP:0001103
name: Abnormal macular morphology
def: "A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina." [https://orcid.org/0000-0002-0736-9199, PMID:16255686]
comment: The term macula derives from the presence of the xanthophyll pigments, lutein and zeaxanthin, in a region five to six millimeters in diameter at the posterior pole of the eye, appearing as a yellow spot (macula lutea), when viewed in red-free light.
subset: hposlim_core
synonym: "Abnormality of the macula" EXACT []
synonym: "Macula abnormality" EXACT []
synonym: "Macular abnormality" EXACT []
xref: SNOMEDCT_US:312999006
xref: UMLS:C0730362
is_a: HP:0000479 ! Abnormal retinal morphology

[Term]
id: HP:0001104
name: Macular hypoplasia
def: "Underdevelopment of the macula lutea." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
xref: UMLS:C1849412
is_a: HP:0008059 ! Aplasia/Hypoplasia of the macula

[Term]
id: HP:0001105
name: Retinal atrophy
def: "Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss." [https://orcid.org/0000-0003-0986-4123]
xref: SNOMEDCT_US:405722004
xref: SNOMEDCT_US:95695004
xref: UMLS:C0035304
xref: UMLS:C0521694
is_a: HP:0000546 ! Retinal degeneration

[Term]
id: HP:0001106
name: Periorbital hyperpigmentation
def: "Increased pigmentation of the skin in the region surrounding the orbit of the eye." [https://orcid.org/0000-0002-0736-9199]
synonym: "Dark circles around the eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Dark circles under the eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Darkening around the eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Idiopathic cutaneous hyperchromia at the orbital region" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Infraorbital pigmentation" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Periorbital melanosis" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Pigmentation around the eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1844606
is_a: HP:0000606 ! Abnormality of the periorbital region
is_a: HP:0001000 ! Abnormality of skin pigmentation

[Term]
id: HP:0001107
name: Ocular albinism
alt_id: HP:0007745
alt_id: HP:0007837
def: "An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina." [https://orcid.org/0000-0002-0736-9199]
comment: Ocular pigmentation is essential for normal vision, and persons with ocular albinism tend to have severely reduced visual acuity often associated with nystagmus, strabismus, and photophobia.
synonym: "Absent pigmentation in the eye" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Albinism, Ocular" EXACT []
xref: SNOMEDCT_US:26399002
xref: UMLS:C0078917
is_a: HP:0001098 ! Abnormal fundus morphology
is_a: HP:0007730 ! Iris hypopigmentation

[Term]
id: HP:0001112
name: Leber optic atrophy
alt_id: HP:0001086
def: "Degeneration of retinal ganglion cells and their axons." [https://orcid.org/0000-0002-0736-9199]
synonym: "Leber optic atrophy features" EXACT []
synonym: "Leber optic degeneration" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:58610003
xref: UMLS:C0917796
is_a: HP:0000587 ! Abnormal optic nerve morphology

[Term]
id: HP:0001113
name: obsolete Early cataracts
is_obsolete: true
replaced_by: HP:0000518

[Term]
id: HP:0001114
name: Xanthelasma
def: "The presence of xanthomata in the skin of the eyelid." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fatty deposits in skin around the eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Fatty deposits on eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Xanthelasma of eyelid" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Xanthelasma of periocular region" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Xanthelasma palpebrarum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Xanthoma" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Xanthoma of eyelid" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Xanthoma of periocular region" NARROW [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:63103006
xref: SNOMEDCT_US:6400008
xref: SNOMEDCT_US:75594004
xref: UMLS:C0155210
xref: UMLS:C0302314
xref: UMLS:C4280601
xref: UMLS:C4280602
is_a: HP:0000991 ! Xanthomatosis
is_a: HP:0010732 ! Nodular changes affecting the eyelids

[Term]
id: HP:0001115
name: Posterior polar cataract
def: "A polar cataract that affects the posterior pole of the lens." [https://orcid.org/0000-0002-0736-9199]
synonym: "Polar cataract, posterior" EXACT []
xref: UMLS:C1850191
is_a: HP:0010696 ! Polar cataract

[Term]
id: HP:0001116
name: Macular coloboma
def: "A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented." [https://orcid.org/0000-0001-8727-6592, PMID:15069441]
synonym: "Coloboma of the macula" EXACT []
xref: UMLS:C1852767
is_a: HP:0000480 ! Retinal coloboma
is_a: HP:0001103 ! Abnormal macular morphology

[Term]
id: HP:0001117
name: Sudden loss of visual acuity
def: "Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy." [https://orcid.org/0000-0002-0736-9199]
synonym: "Sudden central visual loss" RELATED []
synonym: "Sudden decrease in vision" BROAD layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4025803
xref: UMLS:C4072828
xref: UMLS:C4280600
is_a: HP:0007663 ! Reduced visual acuity

[Term]
id: HP:0001118
name: Juvenile cataract
def: "A type of cataract that is not apparent at birth but that arises in childhood or adolescence." [https://orcid.org/0000-0002-0736-9199]
comment: Juvenile cataracts are generally either hereditary (especially if bilateral) or due to trauma (especially if unilateral).
xref: SNOMEDCT_US:399336001
xref: UMLS:C0302254
is_a: HP:0000518 ! Cataract

[Term]
id: HP:0001119
name: Keratoglobus
def: "Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea." [PMID:19667340]
subset: hposlim_core
xref: UMLS:C3887531
is_a: HP:0007700 ! Ocular anterior segment dysgenesis
is_a: HP:0100689 ! Decreased corneal thickness
is_a: HP:0100692 ! Increased corneal curvature

[Term]
id: HP:0001120
name: Abnormality of corneal size
def: "Any abnormality of the size or morphology of the cornea." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025802
is_a: HP:0000481 ! Abnormal cornea morphology

[Term]
id: HP:0001122
name: obsolete Aplasia/Hypoplasia of the choroid
is_obsolete: true
consider: HP:0000610

[Term]
id: HP:0001123
name: Visual field defect
synonym: "Partial loss of field of vision" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Visual field defects" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:12184005
xref: UMLS:C3887875
is_a: HP:0000505 ! Visual impairment

[Term]
id: HP:0001125
name: Transient unilateral blurring of vision
alt_id: HP:0000583
def: "Transient blurring of vision associated with the aura phase of migraine." [https://orcid.org/0000-0002-0736-9199]
comment: The anterior segment comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens.
synonym: "Hemianopic blurring" RELATED []
synonym: "Hemianoptic blurring of vision" EXACT []
synonym: "Transient unilateral blurred vision" EXACT []
xref: UMLS:C1865332
is_a: HP:0000622 ! Blurred vision

[Term]
id: HP:0001126
name: Cryptophthalmos
alt_id: HP:0008032
def: "Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity." [https://orcid.org/0000-0002-0736-9199, PMID:19125427]
comment: Failure of eyelid formation. Crypopthalmos is typically associated with a rudimentary or small globe. Frequently, a tuft of hair accompanies the aberrant skin.
subset: hposlim_core
xref: SNOMEDCT_US:400951005
xref: UMLS:C0311249
is_a: HP:0011226 ! Aplasia/Hypoplasia of the eyelid

[Term]
id: HP:0001128
name: Trichiasis
def: "Inversion and rubbing of the eyelashes against the globe of the eye." [https://orcid.org/0000-0002-0736-9199]
comment: Eyelash inversion.
synonym: "Ingrown eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Introversion of eyelashes" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Trichiasis of eyelid eyelashes" EXACT []
xref: SNOMEDCT_US:60332004
xref: UMLS:C0221259
is_a: HP:0000499 ! Abnormal eyelash morphology

[Term]
id: HP:0001129
name: Large central visual field defect
synonym: "Large central loss of field of vision" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4025800
is_a: HP:0001123 ! Visual field defect

[Term]
id: HP:0001131
name: Corneal dystrophy
alt_id: HP:0007775
alt_id: HP:0008005
def: "The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
xref: SNOMEDCT_US:5587004
xref: UMLS:C0010036
is_a: HP:0000481 ! Abnormal cornea morphology

[Term]
id: HP:0001132
name: Lens subluxation
def: "Partial dislocation of the lens of the eye." [https://orcid.org/0000-0002-0736-9199]
comment: Partial dislocation of the lens of the eye can be recognized by trembling of the iris (iridodonesis).
synonym: "Partially dislocated lens" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:65814009
xref: UMLS:C0023316
is_a: HP:0001083 ! Ectopia lentis

[Term]
id: HP:0001133
name: Constriction of peripheral visual field
alt_id: HP:0007887
alt_id: HP:0007981
def: "An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye." [https://orcid.org/0000-0003-0986-4123]
synonym: "Concentric narrowing of visual field" EXACT []
synonym: "Constricted visual field" EXACT []
synonym: "Constricted visual fields" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Limited peripheral vision" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Reduced peripheral vision" EXACT []
synonym: "Visual field constriction" EXACT []
xref: SNOMEDCT_US:1151008
xref: SNOMEDCT_US:267628004
xref: UMLS:C0235095
is_a: HP:0001123 ! Visual field defect

[Term]
id: HP:0001134
name: Anterior polar cataract
def: "A polar cataract that affects the anterior pole of the lens." [https://orcid.org/0000-0002-0736-9199]
synonym: "Polar cataract, anterior" EXACT []
xref: UMLS:C1855179
is_a: HP:0010696 ! Polar cataract

[Term]
id: HP:0001135
name: Chorioretinal dystrophy
alt_id: HP:0007712
alt_id: HP:0007920
xref: UMLS:C1857627
is_a: HP:0000532 ! Abnormal chorioretinal morphology
is_a: HP:0000556 ! Retinal dystrophy

[Term]
id: HP:0001136
name: Retinal arteriolar tortuosity
def: "The presence of an increased number of twists and turns of the retinal arterioles." [https://orcid.org/0000-0002-0736-9199]
synonym: "Tortuous retinal arterioles" EXACT []
xref: UMLS:C1843517
is_a: HP:0000630 ! Abnormal retinal artery morphology
is_a: HP:0012841 ! Retinal vascular tortuosity

[Term]
id: HP:0001137
name: Alternating esotropia
def: "Esotropia in which either eye may be used for fixation." [https://orcid.org/0000-0003-0986-4123]
comment: Alternating suggests that the patient may be using either eye to fixate (which means that you do not have the same one eye squinting all the time).
synonym: "Alternating cross eyes" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:39837002
xref: UMLS:C0152205
is_a: HP:0000565 ! Esotropia

[Term]
id: HP:0001138
name: Optic neuropathy
alt_id: HP:0007806
synonym: "Damaged optic nerve" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:82108004
xref: UMLS:C3887709
is_a: HP:0000587 ! Abnormal optic nerve morphology

[Term]
id: HP:0001139
name: Choroideremia
xref: SNOMEDCT_US:75241009
xref: UMLS:C0008525
is_a: HP:0000610 ! Abnormal choroid morphology

[Term]
id: HP:0001140
name: Limbal dermoid
def: "A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid)." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Benign eye tumor" BROAD layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Benign eye tumour" BROAD uk_spelling []
synonym: "Epibulbar dermoid" EXACT []
synonym: "Epibulbar dermoids" EXACT plural_form []
xref: SNOMEDCT_US:5131000119107
xref: SNOMEDCT_US:92097004
xref: UMLS:C0496897
xref: UMLS:C1867616
is_a: HP:0000481 ! Abnormal cornea morphology
is_a: HP:0000502 ! Abnormal conjunctiva morphology
is_a: HP:0000591 ! Abnormal sclera morphology

[Term]
id: HP:0001141
name: Severely reduced visual acuity
alt_id: HP:0007640
alt_id: HP:0007842
alt_id: HP:0007951
alt_id: HP:0008023
def: "Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05." [PMID:28779882]
synonym: "Marked vision impairment" EXACT layperson []
synonym: "Severe reduction in visual acuity" EXACT []
synonym: "Severe vision loss" EXACT []
synonym: "Severe visual impairment" EXACT layperson []
synonym: "Severe visual loss" EXACT []
synonym: "Severely impaired vision" EXACT layperson []
xref: SNOMEDCT_US:397541004
xref: UMLS:C1301509
is_a: HP:0007663 ! Reduced visual acuity

[Term]
id: HP:0001142
name: Lenticonus
def: "A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly." [HPO_CONTRIBUTOR:DDD_ncarter]
comment: A conical projection of the anterior or posterior surface of the lens.
subset: hposlim_core
xref: SNOMEDCT_US:253221000
xref: UMLS:C0239119
is_a: HP:0011526 ! Abnormality of lens shape

[Term]
id: HP:0001144
name: Orbital cyst
def: "Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cyst of eye socket" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Orbital cysts" EXACT []
xref: SNOMEDCT_US:31021007
xref: UMLS:C0155285
is_a: HP:0000315 ! Abnormality of the orbital region

[Term]
id: HP:0001145
name: obsolete Chorioretinopathy
is_obsolete: true
consider: HP:0000532

[Term]
id: HP:0001146
name: obsolete Pigmentary retinal degeneration
is_obsolete: true
replaced_by: HP:0000580

[Term]
id: HP:0001147
name: Retinal exudate
def: "Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina." [https://orcid.org/0000-0002-0736-9199]
comment: Retinal exudates indicate increased vessel permeability and an associated risk of retinal edema.
synonym: "Retinal exudates" EXACT []
xref: SNOMEDCT_US:39832008
xref: UMLS:C0240897
is_a: HP:0030506 ! Yellow/white lesions of the retina

[Term]
id: HP:0001149
name: Lattice corneal dystrophy
def: "The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea." [https://orcid.org/0000-0002-0736-9199]
synonym: "Biber haab dimmer dystrophy" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:1192004
xref: SNOMEDCT_US:361199007
xref: UMLS:C0155127
is_a: HP:0001131 ! Corneal dystrophy

[Term]
id: HP:0001150
name: obsolete Choroidal sclerosis
is_obsolete: true
consider: HP:0000532

[Term]
id: HP:0001151
name: Impaired horizontal smooth pursuit
def: "An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal horizontal ocular pursuit" EXACT []
synonym: "Impaired horizontal visual pursuit" EXACT []
xref: UMLS:C1866753
is_a: HP:0007772 ! Impaired smooth pursuit

[Term]
id: HP:0001152
name: Saccadic smooth pursuit
alt_id: HP:0000530
def: "An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements." [https://orcid.org/0000-0002-0736-9199]
comment: Tracking eye movements consist of two different components, namely, smooth pursuit and saccades. Smooth pursuit, or just pursuit, is a class of rather slow eye movements that minimizes retinal target motion. Saccades are rapid eye movements that align the fovea with the target.
synonym: "Saccadic pursuit movements" EXACT []
synonym: "Saccadic slow pursuit" EXACT []
xref: UMLS:C1836479
is_a: HP:0000617 ! Abnormality of ocular smooth pursuit

[Term]
id: HP:0001153
name: Septate vagina
def: "The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases." [https://orcid.org/0000-0002-0736-9199]
synonym: "Double vagina" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:47054003
xref: UMLS:C0266411
is_a: HP:0000142 ! Abnormal vagina morphology

[Term]
id: HP:0001155
name: Abnormality of the hand
alt_id: HP:0005858
def: "An abnormality affecting one or both hands." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormal hands" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Abnormality of the hand" EXACT layperson []
synonym: "Hand anomalies" EXACT layperson []
synonym: "Hand deformities" EXACT layperson []
xref: SNOMEDCT_US:299033004
xref: UMLS:C0018564
is_a: HP:0002817 ! Abnormality of the upper limb

[Term]
id: HP:0001156
name: Brachydactyly
alt_id: HP:0001189
alt_id: HP:0001201
alt_id: HP:0005630
alt_id: HP:0005657
alt_id: HP:0005727
alt_id: HP:0006017
alt_id: HP:0006128
alt_id: HP:0100667
def: "Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here." [https://orcid.org/0000-0002-0736-9199]
synonym: "Brachydactyly syndrome" EXACT []
synonym: "Short fingers or toes" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:43476002
xref: UMLS:C0221357
is_a: HP:0011927 ! Short digit

[Term]
id: HP:0001159
name: Syndactyly
alt_id: HP:0001206
alt_id: HP:0001236
def: "Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as \"symphalangism\"." [https://orcid.org/0000-0002-0736-9199]
comment: Syndactyly may be partial or complete. In complete syndactyly, the skin is joined all the way to the fingertip. In partial (incomplete) syndactyly, the skin is only joined part of the distance to the fingertip.
synonym: "Webbed fingers or toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: Fyler:4174
xref: SNOMEDCT_US:373413006
xref: UMLS:C0039075
is_a: HP:0011297 ! Abnormal digit morphology

[Term]
id: HP:0001161
name: Hand polydactyly
def: "A kind of polydactyly characterized by the presence of a supernumerary finger or fingers." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Extra finger" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Finger polydactyly" EXACT []
synonym: "Polydactyly of the hand" EXACT []
synonym: "Supernumerary finger" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: MEDDRA:10036064 "Polydactyly of fingers"
xref: SNOMEDCT_US:81793007
xref: UMLS:C0158733
is_a: HP:0009997 ! Duplication of phalanx of hand
is_a: HP:0010442 ! Polydactyly

[Term]
id: HP:0001162
name: Postaxial hand polydactyly
alt_id: HP:0004698
alt_id: HP:0005763
alt_id: HP:0009984
def: "Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger)." [https://orcid.org/0009-0006-4530-3154]
subset: hposlim_core
synonym: "Extra little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Extra pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Extra pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Polydactyly affecting the 5th finger" EXACT []
synonym: "Postaxial polydactyly of fingers" EXACT []
synonym: "Postaxial polydactyly of hand" EXACT []
synonym: "Postaxial polydactyly of hands" EXACT []
xref: SNOMEDCT_US:205131007
xref: UMLS:C0431904
is_a: HP:0001161 ! Hand polydactyly
is_a: HP:0004207 ! Abnormal 5th finger morphology
is_a: HP:0100259 ! Postaxial polydactyly

[Term]
id: HP:0001163
name: obsolete Abnormality of the metacarpal bones
is_obsolete: true
replaced_by: HP:0005916

[Term]
id: HP:0001166
name: Arachnodactyly
alt_id: HP:0001505
def: "Abnormally long and slender fingers (spider fingers)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Long slender fingers" EXACT layperson []
synonym: "Long, slender fingers" EXACT []
synonym: "Spider fingers" EXACT layperson []
xref: SNOMEDCT_US:62250003
xref: UMLS:C0003706
is_a: HP:0001238 ! Slender finger
is_a: HP:0100807 ! Long fingers

[Term]
id: HP:0001167
name: Abnormal finger morphology
alt_id: HP:0003035
def: "An anomaly of a finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormalities of the fingers" EXACT layperson []
synonym: "Abnormality of finger" EXACT layperson []
xref: UMLS:C2674737
is_a: HP:0001155 ! Abnormality of the hand
is_a: HP:0011297 ! Abnormal digit morphology

[Term]
id: HP:0001169
name: Broad palm
alt_id: HP:0001174
def: "For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
comment: Hand width is measured across the palm at the level of the MCPJ (radial aspect of the second MCPJ to the ulnar aspect of the fifth MCPJ) [Hall et al., 2007]. Caution is advised with the subjective assessment as short metacarpals can mimic a broad palm. In persons with polydactyly that includes a supernumerary metacarpal, that should be separately coded and the measurement technique from Hall et al, [2007] would need to be modified to account for the supernumerary digit (i.e., with postaxial polydactyly, measure to the sixth MCPJ).
synonym: "Broad hand" EXACT layperson []
synonym: "Broad hands" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Broad palm" EXACT layperson []
synonym: "Wide palm" EXACT layperson []
xref: SNOMEDCT_US:48251003
xref: UMLS:C0264142
is_a: HP:0100871 ! Abnormal palm morphology

[Term]
id: HP:0001171
name: Split hand
alt_id: HP:0001247
alt_id: HP:0003050
def: "A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands." [https://orcid.org/0009-0006-4530-3154]
synonym: "Ectrodactyly of the hand" EXACT []
synonym: "Hand ectrodactyly" EXACT []
synonym: "Split hand" EXACT layperson []
synonym: "Split-hand" EXACT layperson []
xref: SNOMEDCT_US:299034005
xref: UMLS:C0221373
is_a: HP:0005922 ! Abnormal hand morphology
is_a: HP:0100257 ! Ectrodactyly

[Term]
id: HP:0001172
name: Abnormal thumb morphology
def: "An abnormal structure of the first digit of the hand." []
synonym: "Abnormality of the thumb" EXACT layperson []
synonym: "Abnormality of the thumbs" EXACT layperson []
synonym: "Thumb deformity" EXACT layperson []
xref: SNOMEDCT_US:299130003
xref: UMLS:C0575897
is_a: HP:0001167 ! Abnormal finger morphology

[Term]
id: HP:0001176
name: Large hands
alt_id: HP:0002820
alt_id: HP:0006044
alt_id: HP:0006219
synonym: "Disproportionately large hands" EXACT []
synonym: "large hand" EXACT layperson []
synonym: "Large hands" EXACT layperson []
xref: SNOMEDCT_US:249752003
xref: UMLS:C0426870
is_a: HP:0005922 ! Abnormal hand morphology

[Term]
id: HP:0001177
name: Preaxial hand polydactyly
alt_id: HP:0005629
alt_id: HP:0005634
alt_id: HP:0006182
alt_id: HP:0009604
def: "Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits." [https://orcid.org/0000-0002-0736-9199]
synonym: "Extra thumb" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Polydactyly affecting the thumb" EXACT []
synonym: "Preaxial polydactyly of hands" EXACT []
synonym: "Supernumerary thumb" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "thumb polydactyly" EXACT []
xref: SNOMEDCT_US:205135003
xref: SNOMEDCT_US:445216006
xref: UMLS:C1395852
is_a: HP:0001161 ! Hand polydactyly
is_a: HP:0001172 ! Abnormal thumb morphology
is_a: HP:0100258 ! Preaxial polydactyly

[Term]
id: HP:0001178
name: Ulnar claw
def: "An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm." [https://orcid.org/0000-0002-0736-9199]
comment: An ulnar claw, also known as claw hand, is an abnormal hand position that is associated with lesions of the ulnar nerve. Note that ulnar claw is to be distinguished from ectrodactyly, which also can be referred to as claw hand.
xref: UMLS:C4025799
is_a: HP:0005922 ! Abnormal hand morphology

[Term]
id: HP:0001180
name: obsolete Hand oligodactyly
is_obsolete: true
replaced_by: HP:0009380

[Term]
id: HP:0001181
name: Adducted thumb
alt_id: HP:0005646
def: "In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger." [https://orcid.org/0000-0002-6670-9157, PMID:16235349, PMID:19125433]
comment: The thumb is both flexed and adducted. Lesser degrees of adduction than that specified here may warrant the use of this term, for example, when the tip of the thumb lies near the base of F2 or F3.
synonym: "Adducted thumbs" EXACT []
synonym: "Inward turned thumb" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Thumb-in-palm deformity" EXACT []
synonym: "Thumb-in-palm pattern" EXACT []
xref: UMLS:C3554617
is_a: HP:0001172 ! Abnormal thumb morphology

[Term]
id: HP:0001182
name: Tapered finger
alt_id: HP:0005795
alt_id: HP:0005800
alt_id: HP:0006032
alt_id: HP:0006080
alt_id: HP:0006098
alt_id: HP:0006111
alt_id: HP:0006125
alt_id: HP:0006244
alt_id: HP:0007532
def: "The gradual reduction in girth of the finger from proximal to distal." [PMID:19125433]
subset: hposlim_core
synonym: "Distally tapering fingers" EXACT []
synonym: "Tapered finger" EXACT layperson []
synonym: "Tapered fingers" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Tapered fingertips" EXACT layperson []
synonym: "Tapering fingers" EXACT layperson []
xref: SNOMEDCT_US:249768009
xref: UMLS:C0426886
is_a: HP:0100807 ! Long fingers

[Term]
id: HP:0001187
name: Hyperextensibility of the finger joints
alt_id: HP:0006158
def: "The ability of the finger joints to move beyond their normal range of motion." [https://orcid.org/0000-0002-0736-9199]
synonym: "Finger joint hyperextensibility" EXACT layperson []
synonym: "Hyperextensible digits" EXACT layperson []
synonym: "Hyperextensible finger" EXACT layperson []
synonym: "Hyperextensible fingers" RELATED layperson []
xref: UMLS:C1844577
is_a: HP:0006094 ! Finger joint hypermobility

[Term]
id: HP:0001188
name: Hand clenching
def: "An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. In prenatal sonography of the fetal clenched hand, the index finger overlaps a clenched fist formed by the other digits. The proximal interphalangeal articulation of the index finger is flexed and ulnarly deviated, and the thumb is adducted." [https://orcid.org/0009-0006-4530-3154, PMID:10085502, PMID:16702456, PMID:27638597]
comment: Hand clenching is commonly characterized by malpositioning of the fingers characterized by radial deviation of the 4th and 5th digits and ulnar deviation of the 2nd digit over the 3rd finger. Hand clenching is distinguished from Camptodactyly, as that term may describe fewer than five digits of a eudactylous hand and does not involve the MCPJ. The digits may overlap when they lie flexed in the palm. It is not necessary to specify the overlapping fingers finding separately.
subset: hposlim_core
synonym: "Clenched hand" EXACT []
synonym: "Clenched hands" EXACT layperson []
synonym: "Fisted hand" EXACT []
synonym: "Fisting" EXACT []
synonym: "Hand clenching" EXACT layperson []
synonym: "Hands fisted" EXACT []
synonym: "Hands tightly fisted" EXACT []
synonym: "Thumb clasp" EXACT []
xref: UMLS:C0239815
is_a: HP:0005922 ! Abnormal hand morphology

[Term]
id: HP:0001191
name: Abnormal carpal morphology
def: "An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate)." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormal carpal bones" EXACT []
synonym: "Abnormal wrist bones" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the carpal bones" EXACT []
synonym: "Anomalous carpal bones" EXACT []
synonym: "Carpal bone anomalies" EXACT []
xref: UMLS:C1840535
is_a: HP:0005922 ! Abnormal hand morphology
is_a: HP:0025798 ! Abnormal wrist morphology

[Term]
id: HP:0001193
name: Ulnar deviation of the hand or of fingers of the hand
xref: UMLS:C4048199
is_a: HP:0009484 ! Deviation of the hand or of fingers of the hand

[Term]
id: HP:0001194
name: Abnormalities of placenta or umbilical cord
def: "An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormalities of placenta or umbilical cord" EXACT layperson []
xref: UMLS:C4025798
is_a: HP:0001197 ! Abnormality of prenatal development or birth

[Term]
id: HP:0001195
name: Single umbilical artery
def: "Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord." [https://orcid.org/0000-0002-0736-9199]
comment: The umbilical cord normally has two arteries and one vein.
synonym: "2 vessel cord" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "2 vessel umbilical cord" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Only one artery in umbilical cord instead of two" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "SUA" EXACT abbreviation []
synonym: "Two vessel cord" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Two vessel umbilical cord" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Two-vessel cord" EXACT []
xref: SNOMEDCT_US:204470001
xref: UMLS:C1384670
is_a: HP:0010948 ! Abnormal fetal cardiovascular morphology
is_a: HP:0011403 ! Abnormal umbilical cord blood vessel morphology
is_a: HP:0011425 ! Fetal ultrasound soft marker

[Term]
id: HP:0001196
name: Short umbilical cord
def: "Decreased length of the umbilical cord." [https://orcid.org/0000-0002-0736-9199]
synonym: "Short umbilical cord" EXACT layperson []
xref: SNOMEDCT_US:59795007
xref: UMLS:C0266786
is_a: HP:0010881 ! Abnormality of the umbilical cord

[Term]
id: HP:0001197
name: Abnormality of prenatal development or birth
def: "An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities." [https://orcid.org/0000-0002-0736-9199]
comment: Because of the close link between prenatal developmental abnormalities and abnormalities of the birth process, a single term is chosen to subsume both classes of abnormality.
synonym: "Abnormality of prenatal development or birth" EXACT layperson []
xref: UMLS:C4025797
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0001199
name: Triphalangeal thumb
alt_id: HP:0005846
alt_id: HP:0006194
alt_id: HP:0009610
alt_id: HP:0009619
def: "A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
comment: The requirement for a single PD axis relates to the issue that partial forms of Preaxial polydactyly may comprise a partially duplicated thumb with two distal phalanges and a single proximal phalanx. That finding is instead coded as a mild form of thumb polydactyly. Note that this finding can be readily assessed by examination and/or physical manipulation of the thumb.
subset: hposlim_core
synonym: "Accessory phalanx of the thumb" EXACT []
synonym: "Digitalized thumb" EXACT []
synonym: "Finger-like thumb" EXACT layperson []
synonym: "Triphalangeal thumbs" EXACT []
synonym: "Triphalangy of thumb" EXACT []
xref: SNOMEDCT_US:205308004
xref: UMLS:C0241397
is_a: HP:0009602 ! Abnormality of thumb phalanx

[Term]
id: HP:0001204
name: Distal symphalangism of hands
alt_id: HP:0006079
alt_id: HP:0006116
alt_id: HP:0009841
alt_id: HP:0009871
def: "The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases." [https://orcid.org/0009-0006-4530-3154]
synonym: "Fused outermost bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Symphalangism affecting the distal phalanges of the hand" EXACT []
synonym: "Synostosis of distal phalanges" EXACT []
synonym: "Terminal symphalangism" EXACT []
xref: UMLS:C1862158
is_a: HP:0009700 ! Finger symphalangism
is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand
is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger
is_a: HP:0100263 ! Distal symphalangism

[Term]
id: HP:0001211
name: Abnormal fingertip morphology
def: "An abnormal structure of the tip (end) of a finger." []
synonym: "Abnormality of the fingertips" EXACT layperson []
xref: UMLS:C4025796
is_a: HP:0001167 ! Abnormal finger morphology

[Term]
id: HP:0001212
name: Prominent fingertip pads
alt_id: HP:0001235
def: "A soft tissue prominence of the ventral aspects of the fingertips. The term \"persistent fetal fingertip pads\" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Persistence of fingerpads" EXACT []
synonym: "Persistent fetal fingertip pads" EXACT []
synonym: "Persistent foetal fingertip pads" EXACT uk_spelling []
synonym: "Prominent finger pads" EXACT layperson []
synonym: "Prominent fingertip pads" EXACT layperson []
xref: UMLS:C1835807
is_a: HP:0001211 ! Abnormal fingertip morphology
is_a: HP:0011298 ! Prominent digit pad

[Term]
id: HP:0001215
name: Camptodactyly of 2nd-5th fingers
def: "The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1859368
is_a: HP:0100490 ! Camptodactyly of finger

[Term]
id: HP:0001216
name: Delayed ossification of carpal bones
alt_id: HP:0006069
def: "Ossification of carpal bones occurs later than age-adjusted norms." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Carpal delayed ossification" EXACT []
synonym: "Delayed carpal bone age" EXACT []
synonym: "Delayed carpal ossification" EXACT []
synonym: "Delayed maturation of carpal bones" EXACT []
synonym: "Delayed maturation of wrist bone" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1841684
xref: UMLS:C4280599
is_a: HP:0006257 ! Abnormality of carpal bone ossification

[Term]
id: HP:0001217
name: Clubbing
alt_id: HP:0003036
alt_id: HP:0005874
def: "Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails." [https://orcid.org/0009-0006-4530-3154, PMID:19125433]
comment: Non-edematous swelling/broadening of the soft tissue of the fingertips in all dimensions (distal phalanges of the fingers).
synonym: "Clubbing of fingers and toes" EXACT layperson []
synonym: "Digital clubbing" EXACT []
xref: SNOMEDCT_US:367004
xref: UMLS:C0149651
is_a: HP:0011297 ! Abnormal digit morphology

[Term]
id: HP:0001218
name: Autoamputation
def: "Auto-amputation is the spontaneous detachment of an appendage from the body due to long standing pathology." [https://orcid.org/0000-0002-0736-9199, PMID:31633102]
xref: UMLS:C1833222
is_a: HP:0040064 ! Abnormality of limbs

[Term]
id: HP:0001220
name: Interphalangeal joint contracture of finger
def: "Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue." [https://orcid.org/0000-0002-0736-9199]
synonym: "Interphalangeal joint flexion contractures" EXACT []
xref: UMLS:C4021784
is_a: HP:0012785 ! Flexion contracture of finger

[Term]
id: HP:0001222
name: Spatulate thumbs
def: "Spoon-shaped, broad thumbs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Spoon shaped thumbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C0241395
is_a: HP:0011304 ! Broad thumb

[Term]
id: HP:0001223
name: Pointed proximal second through fifth metacarpals
def: "All of the metacarpal bones of the hand have a pointed proximal appearance." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1854787
is_a: HP:0006119 ! Proximal tapering of metacarpals

[Term]
id: HP:0001225
name: Wrist swelling
synonym: "Wrist swelling" EXACT layperson []
xref: UMLS:C0241760
is_a: HP:0025798 ! Abnormal wrist morphology

[Term]
id: HP:0001226
name: obsolete Acral ulceration and osteomyelitis leading to autoamputation of digits
is_obsolete: true
replaced_by: HP:0006121

[Term]
id: HP:0001227
name: Abnormality of the thenar eminence
def: "An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb." [https://orcid.org/0000-0002-0736-9199]
synonym: "Thenar abnormality" EXACT []
xref: UMLS:C4021783
is_a: HP:0001421 ! Abnormality of the musculature of the hand

[Term]
id: HP:0001230
name: Broad metacarpals
alt_id: HP:0006024
alt_id: HP:0006065
def: "Abnormally broad metacarpal bones." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Wide long bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Wide metacarpals" EXACT []
xref: UMLS:C1842229
is_a: HP:0005916 ! Abnormal metacarpal morphology

[Term]
id: HP:0001231
name: Abnormal fingernail morphology
def: "An abnormality of the fingernails." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal fingernails" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Abnormality of the fingernails" EXACT layperson []
xref: UMLS:C4021782
is_a: HP:0001597 ! Abnormal nail morphology

[Term]
id: HP:0001232
name: Nail bed telangiectasia
def: "Telangiectases in the area of the nails." [https://orcid.org/0000-0002-0736-9199]
synonym: "Nail bed telangiectases" EXACT []
xref: UMLS:C1838167
is_a: HP:0001009 ! Telangiectasia
is_a: HP:0001597 ! Abnormal nail morphology

[Term]
id: HP:0001233
name: 2-3 finger cutaneous syndactyly
alt_id: HP:0006039
alt_id: HP:0006122
def: "A soft tissue continuity in the anteroposterior axis between the second to the third fingers that extends distally to at least the level of the proximal interphalangeal joints." [https://orcid.org/0009-0006-4530-3154]
synonym: "Syndactyly 2nd-3rd fingers" EXACT []
synonym: "Syndactyly, 2-3 finger" EXACT []
synonym: "Webbed 2nd-3rd fingers" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:205139009
xref: UMLS:C0432055
is_a: HP:0010554 ! Cutaneous finger syndactyly

[Term]
id: HP:0001234
name: Hitchhiker thumb
alt_id: HP:0009620
alt_id: HP:0040021
def: "With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
comment: The condition known as "hitchhiker's thumb" means, that the distal phalanx of the thumb, when the thumb is extended (as in a "thumbs-up"), can extend backwards toward the nail and outwards at an angle of up to, or more than, 90 degrees from the thumb, whereas normally it will extend straight out with little backward bending.
subset: hposlim_core
synonym: "Abducted thumb" EXACT []
synonym: "Hitchhiker thumb" EXACT layperson []
xref: UMLS:C1857269
is_a: HP:0009466 ! Radial deviation of finger
is_a: HP:0009603 ! Deviation of the thumb
is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb

[Term]
id: HP:0001238
name: Slender finger
def: "Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual." [PMID:19125433]
subset: hposlim_core
synonym: "Narrow fingers" EXACT layperson []
synonym: "Slender finger" EXACT layperson []
synonym: "Slender fingers" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "thin fingers" EXACT layperson []
xref: UMLS:C1857482
is_a: HP:0001167 ! Abnormal finger morphology

[Term]
id: HP:0001239
name: Wrist flexion contracture
alt_id: HP:0006049
alt_id: HP:0006137
def: "A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist." [https://orcid.org/0000-0002-0736-9199]
synonym: "Wrist contracture" EXACT []
synonym: "Wrist flexion deformity" EXACT []
xref: SNOMEDCT_US:202275008
xref: UMLS:C0409345
is_a: HP:0025798 ! Abnormal wrist morphology
is_a: HP:0100360 ! Upper-limb joint contracture

[Term]
id: HP:0001241
name: Capitate-hamate fusion
synonym: "Capitate-hamate fusions" EXACT []
synonym: "Fused capitate and hamate" EXACT []
synonym: "Fusion of capitate and hamate" EXACT []
synonym: "Fusion of hamate and capitate" EXACT []
xref: UMLS:C1857002
is_a: HP:0004259 ! Abnormal hamate bone morphology
is_a: HP:0004262 ! Abnormal capitate bone morphology
is_a: HP:0009702 ! Carpal synostosis

[Term]
id: HP:0001245
name: Small thenar eminence
alt_id: HP:0006188
def: "Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
comment: The reduced soft tissue is typically abductor pollicis brevis and flexor pollicis brevis muscle bulk. Detection of this abnormality entails clinical judgment, especially in mild cases. The bulk of the muscle mass around the base of the thumb is diminished, and there may be a mild concavity over the volar aspect of the first metacarpal. When the deficiency is unilateral, comparison between the two hands will point up the often-subtle change in contour of the thenar muscles. If the degree of involvement is severe, the palm may taper in width proximally.
subset: hposlim_core
synonym: "Decreased thenar eminence" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Hypoplastic thenar eminences" EXACT []
synonym: "Thenar hypoplasia" EXACT []
synonym: "Thenar muscle hypoplasia" EXACT []
xref: UMLS:C1846474
is_a: HP:0001227 ! Abnormality of the thenar eminence

[Term]
id: HP:0001248
name: Short tubular bones of the hand
def: "Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals." [https://orcid.org/0000-0002-0736-9199]
comment: Long bones are also known as tubular bones.
synonym: "Long bone shortening of the hand" EXACT []
synonym: "Short long bones of the hand" EXACT []
synonym: "Shortened long tubular bones of the hand" EXACT []
synonym: "Shortened tubular bones of the hand" EXACT []
xref: UMLS:C4025795
is_a: HP:0003026 ! Short long bone
is_a: HP:0005922 ! Abnormal hand morphology

[Term]
id: HP:0001249
name: Intellectual disability
alt_id: HP:0000730
alt_id: HP:0001267
alt_id: HP:0001286
alt_id: HP:0002122
alt_id: HP:0002192
alt_id: HP:0002316
alt_id: HP:0002382
alt_id: HP:0002386
alt_id: HP:0002402
alt_id: HP:0002458
alt_id: HP:0002482
alt_id: HP:0002499
alt_id: HP:0002543
alt_id: HP:0003767
alt_id: HP:0006833
alt_id: HP:0006877
alt_id: HP:0007154
alt_id: HP:0007176
alt_id: HP:0007180
def: "Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70." []
comment: This term should be used for children who are at least five years old. For younger children, consider using the term Global developmental delay (HP:0001263).
synonym: "Dull intelligence" RELATED []
synonym: "Intellectual disability" EXACT layperson []
synonym: "Low intelligence" RELATED layperson []
synonym: "Mental deficiency" EXACT layperson []
synonym: "Mental retardation" EXACT layperson []
synonym: "Mental retardation, nonspecific" EXACT layperson []
synonym: "Mental-retardation" EXACT layperson []
synonym: "Nonprogressive intellectual disability" EXACT []
synonym: "Nonprogressive mental retardation" EXACT []
synonym: "Poor school performance" RELATED layperson []
xref: SNOMEDCT_US:228156007
xref: SNOMEDCT_US:247578003
xref: SNOMEDCT_US:91138005
xref: UMLS:C0025362
xref: UMLS:C0423903
xref: UMLS:C0917816
xref: UMLS:C1843367
xref: UMLS:C3714756
xref: UMLS:C4020876
is_a: HP:0011446 ! Abnormality of mental function
is_a: HP:0012759 ! Neurodevelopmental abnormality

[Term]
id: HP:0001250
name: Seizure
alt_id: HP:0001275
alt_id: HP:0001303
alt_id: HP:0002125
alt_id: HP:0002182
alt_id: HP:0002279
alt_id: HP:0002306
alt_id: HP:0002348
alt_id: HP:0002391
alt_id: HP:0002417
alt_id: HP:0002430
alt_id: HP:0002431
alt_id: HP:0002432
alt_id: HP:0002434
alt_id: HP:0002437
alt_id: HP:0002466
alt_id: HP:0002479
alt_id: HP:0002794
alt_id: HP:0006997
alt_id: HP:0010520
def: "A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain." [https://orcid.org/0000-0002-0736-9199, PMID:15816939]
comment: A type of electrographic seizure has been proposed in neonates which does not have a clinical correlate, it is electrographic only. The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold.
synonym: "Epilepsy" RELATED layperson []
synonym: "Epileptic seizure" EXACT []
synonym: "Seizures" EXACT plural_form []
xref: SNOMEDCT_US:128613002
xref: SNOMEDCT_US:246545002
xref: SNOMEDCT_US:313307000
xref: SNOMEDCT_US:84757009
xref: SNOMEDCT_US:91175000
xref: UMLS:C0014544
xref: UMLS:C0036572
is_a: HP:0012638 ! Abnormal nervous system physiology

[Term]
id: HP:0001251
name: Ataxia
alt_id: HP:0001253
alt_id: HP:0002513
alt_id: HP:0007050
alt_id: HP:0007157
def: "Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly)." [https://orcid.org/0000-0002-0736-9199]
comment: Ataxia can be differentiated into dyssynergy, asynergy, dysmetria (hypometria, hypermetria), dysdiadochokinesis, gait ataxia, truncal ataxia, limb ataxia, and dysarthria). Note: This term does not include sensory ataxia.
synonym: "Cerebellar ataxia" EXACT []
xref: SNOMEDCT_US:85102008
xref: UMLS:C0007758
is_a: HP:0011443 ! Abnormality of coordination

[Term]
id: HP:0001252
name: Hypotonia
alt_id: HP:0011398
def: "Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist." [https://orcid.org/0000-0002-0736-9199, PMID:21418198]
comment: Hypotonia can be caused by abnormalities of the central nervous system, any element of the motor unit (including the lower motoneuron), or both. Hypotonia is not a specific diagnosis, but can be observed in hundreds of genetic and other diseases. The first distinction to make when assessing a child with hypotonia is whether decreased muscle tone is a result of an abnormality of the central nervous system (CNS), peripheral neuromuscular system, or a combined abnormality involving both. Clinical findings suggestive of an abnormality of the CNS may include hyperreflexia, cognitive developmental delay, and seizures. In contrast, physical findings pointing towards a neuromuscular origin may include weakness, lack of antigravity movements, muscle atrophy, fasciculations, and/or diminished reflexes, most often in the context of normal cognitive function. The HPO term does not distinguish between these etiologies. Additional HPO terms should be used as required to describe associated features.
synonym: "Central hypotonia" NARROW []
synonym: "Low muscle tone" EXACT layperson []
synonym: "Low or weak muscle tone" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Muscle hypotonia" EXACT []
synonym: "Muscular hypotonia" EXACT []
synonym: "Peripheral hypotonia" NARROW []
xref: SNOMEDCT_US:398151007
xref: SNOMEDCT_US:398152000
xref: UMLS:C0026827
is_a: HP:0003808 ! Abnormal muscle tone

[Term]
id: HP:0001254
name: Lethargy
def: "A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks." []
comment: Apathy and lethargy may co-occur.
synonym: "Dullness" EXACT []
synonym: "Inaction" EXACT []
synonym: "Inactivity" EXACT []
synonym: "Languor" EXACT []
synonym: "Lethargy" EXACT layperson []
synonym: "Slowness" EXACT []
synonym: "Torpor" EXACT []
xref: SNOMEDCT_US:214264003
xref: UMLS:C0023380
is_a: HP:0000745 ! Abnormal diminished volition
property_value: terms:contributor https://orcid.org/0000-0001-6262-8264
property_value: terms:contributor https://orcid.org/0000-0001-9446-5121
property_value: terms:contributor https://orcid.org/0000-0002-1592-0825
property_value: terms:contributor https://orcid.org/0000-0002-4672-4923
property_value: terms:contributor https://orcid.org/0000-0002-5554-6946
property_value: terms:contributor https://orcid.org/0000-0002-7367-663X

[Term]
id: HP:0001256
name: Intellectual disability, mild
alt_id: HP:0006908
alt_id: HP:0007119
def: "Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69." [https://orcid.org/0000-0002-0736-9199]
synonym: "Intellectual disability, mild" EXACT layperson []
synonym: "Mental retardation, borderline-mild" EXACT layperson []
synonym: "Mental retardation, mild" RELATED layperson []
synonym: "Mild and nonprogressive mental retardation" EXACT layperson []
synonym: "Mild mental retardation" EXACT layperson []
xref: SNOMEDCT_US:86765009
xref: UMLS:C0026106
is_a: HP:0001249 ! Intellectual disability

[Term]
id: HP:0001257
name: Spasticity
def: "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Involuntary muscle stiffness, contraction, or spasm" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Muscle spasticity" EXACT []
synonym: "Muscular spasticity" EXACT []
xref: SNOMEDCT_US:221360009
xref: SNOMEDCT_US:397790002
xref: UMLS:C0026838
is_a: HP:0001276 ! Hypertonia
is_a: HP:0002493 ! Upper motor neuron dysfunction

[Term]
id: HP:0001258
name: Spastic paraplegia
alt_id: HP:0007062
alt_id: HP:0007124
alt_id: HP:0007216
def: "Complete loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs." [https://orcid.org/0000-0002-0736-9199, PMID:19277459]
comment: This phenotypic feature is a major component of the disease hereditary spastic paraplegia, which has multiple distinct genetic etiologies.
synonym: "Spastic paraplegia, lower limb" EXACT []
xref: SNOMEDCT_US:192967009
xref: UMLS:C0037772
is_a: HP:0002061 ! Lower limb spasticity
is_a: HP:0010550 ! Paraplegia

[Term]
id: HP:0001259
name: Coma
def: "The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli." [PMID:33218655]
comment: Coma is generally a result of diffuse or extensive involvement of both hemispheres of the brain or lesions in the brainstem.
synonym: "Coma" EXACT layperson []
synonym: "Persistent vegetative state" EXACT []
synonym: "Stupor" EXACT []
synonym: "Trance" RELATED []
synonym: "Unconsciousness" EXACT []
xref: ICD-10:R40.2 "Coma, unspecified"
xref: SNOMEDCT_US:371632003
xref: UMLS:C0009421
is_a: HP:0004372 ! Reduced consciousness
property_value: terms:contributor https://orcid.org/0000-0001-6262-8264
property_value: terms:contributor https://orcid.org/0000-0001-9446-5121
property_value: terms:contributor https://orcid.org/0000-0002-1592-0825
property_value: terms:contributor https://orcid.org/0000-0002-4672-4923
property_value: terms:contributor https://orcid.org/0000-0002-5554-6946
property_value: terms:contributor https://orcid.org/0000-0002-7367-663X

[Term]
id: HP:0001260
name: Dysarthria
alt_id: HP:0002327
def: "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [https://orcid.org/0000-0002-0736-9199]
synonym: "Difficulty articulating speech" EXACT layperson []
synonym: "Dysarthric speech" EXACT []
xref: SNOMEDCT_US:8011004
xref: UMLS:C0013362
is_a: HP:0002167 ! Abnormal speech pattern

[Term]
id: HP:0001262
name: Excessive daytime somnolence
alt_id: HP:0002189
def: "A state of abnormally strong desire for sleep during the daytime." []
synonym: "Excessive daytime sleepiness" EXACT layperson []
synonym: "More than typical sleepiness during day" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:271782001
xref: SNOMEDCT_US:79519003
xref: UMLS:C2830004
is_a: HP:0002360 ! Sleep abnormality
is_a: HP:0004372 ! Reduced consciousness

[Term]
id: HP:0001263
name: Global developmental delay
alt_id: HP:0000754
alt_id: HP:0001255
alt_id: HP:0001277
alt_id: HP:0001292
alt_id: HP:0002433
alt_id: HP:0002473
alt_id: HP:0002532
alt_id: HP:0006793
alt_id: HP:0006867
alt_id: HP:0006885
alt_id: HP:0006935
alt_id: HP:0007005
alt_id: HP:0007094
alt_id: HP:0007106
alt_id: HP:0007174
alt_id: HP:0007224
alt_id: HP:0007228
alt_id: HP:0007342
alt_id: HP:0025356
def: "A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age." [https://orcid.org/0000-0002-6410-0882, https://orcid.org/0009-0006-4530-3154]
comment: Developmental retardation is any significant lag in development in the any or all of the physical, cognitive, behavioral, emotional, or social spheres. Note that the term intellectual disability (mental retardation) refers to not merely a delay in development but rather a permanent limitation. Note that the term 'psychomotor retardation' is also used in some contexts to refer to a slowing of thought and physical movements as a result of major depression or intoxication.
synonym: "Cognitive delay" RELATED []
synonym: "Delayed cognitive development" EXACT []
synonym: "Delayed development" EXACT []
synonym: "Delayed developmental milestones" EXACT []
synonym: "Delayed intellectual development" EXACT []
synonym: "Delayed milestones" EXACT []
synonym: "Delayed psychomotor development" EXACT []
synonym: "Developmental delay" EXACT []
synonym: "Developmental delay in early childhood" EXACT []
synonym: "Developmental delay, global" EXACT []
synonym: "Developmental retardation" EXACT []
synonym: "GDD" EXACT abbreviation []
synonym: "Lack of psychomotor development" EXACT []
synonym: "Mental and motor retardation" RELATED []
synonym: "Motor and developmental delay" EXACT []
synonym: "Motormental retardation" EXACT []
synonym: "Psychomotor delay" EXACT []
synonym: "Psychomotor development deficiency" EXACT []
synonym: "Psychomotor development failure" EXACT []
synonym: "Psychomotor developmental delay" EXACT []
synonym: "Retarded development" EXACT []
synonym: "Retarded mental development" EXACT []
synonym: "Retarded psychomotor development" EXACT []
xref: SNOMEDCT_US:224958001
xref: UMLS:C0557874
xref: UMLS:C1864897
xref: UMLS:C4020875
is_a: HP:0012758 ! Neurodevelopmental delay

[Term]
id: HP:0001264
name: Spastic diplegia
def: "Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Spastic diparesis" EXACT []
synonym: "Spastic diplegic" EXACT []
xref: SNOMEDCT_US:281411007
xref: UMLS:C0023882
is_a: HP:0034353 ! Appendicular spasticity

[Term]
id: HP:0001265
name: Hyporeflexia
alt_id: HP:0002467
def: "Reduction of neurologic reflexes such as the knee-jerk reaction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased reflex response" EXACT layperson []
synonym: "Decreased reflexes" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:405946002
xref: UMLS:C0700078
is_a: HP:0001315 ! Reduced tendon reflexes

[Term]
id: HP:0001266
name: Choreoathetosis
alt_id: HP:0002469
alt_id: HP:0006811
alt_id: HP:0007028
alt_id: HP:0007337
def: "Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Choreoathetoid movements" EXACT []
xref: SNOMEDCT_US:43105007
xref: UMLS:C0085583
xref: UMLS:C0234967
is_a: HP:0002072 ! Chorea
is_a: HP:0002305 ! Athetosis

[Term]
id: HP:0001268
name: Mental deterioration
alt_id: HP:0002303
alt_id: HP:0006822
alt_id: HP:0007155
alt_id: HP:0007253
alt_id: HP:0007264
alt_id: HP:0007298
def: "Loss of previously present mental abilities, generally in adults." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cognitive decline" EXACT layperson []
synonym: "Cognitive decline, progressive" EXACT layperson []
synonym: "Intellectual deterioration" EXACT layperson []
synonym: "Mental deterioration" EXACT layperson []
synonym: "Progressive cognitive decline" EXACT layperson []
xref: UMLS:C0234985
is_a: HP:0100543 ! Cognitive impairment

[Term]
id: HP:0001269
name: Hemiparesis
def: "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength." [HPO_CONTRIBUTOR:UKB_tklockgether, https://orcid.org/0000-0002-0736-9199]
synonym: "Weakness of one side of body" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:127377003
xref: SNOMEDCT_US:20022000
xref: UMLS:C0018989
is_a: HP:0004374 ! Hemiplegia/hemiparesis

[Term]
id: HP:0001270
name: Motor delay
alt_id: HP:0001307
alt_id: HP:0002130
alt_id: HP:0006788
alt_id: HP:0006826
alt_id: HP:0006909
alt_id: HP:0006950
alt_id: HP:0006968
alt_id: HP:0007219
alt_id: HP:0007251
def: "A type of Developmental delay characterized by a delay in acquiring motor skills." [https://orcid.org/0000-0002-0736-9199]
synonym: "Delay in development of motor milestones" EXACT []
synonym: "Delay in motor development" EXACT []
synonym: "Delayed development of motor milestones" EXACT []
synonym: "Delayed early motor milestones" EXACT []
synonym: "Delayed motor development" EXACT []
synonym: "Delayed motor milestones" EXACT []
synonym: "Locomotor delay" EXACT []
synonym: "Motor developmental delay" EXACT []
synonym: "Motor developmental milestones not achieved" EXACT []
synonym: "Motor retardation" EXACT []
synonym: "No development of motor milestones" RELATED []
synonym: "Retarded motor development" EXACT []
synonym: "Slow development of motor milestones" EXACT []
xref: UMLS:C1854301
xref: UMLS:C4020874
is_a: HP:0012758 ! Neurodevelopmental delay

[Term]
id: HP:0001271
name: Polyneuropathy
alt_id: HP:0006941
alt_id: HP:0007287
def: "A generalized disorder of peripheral nerves." [https://orcid.org/0000-0002-0736-9199]
synonym: "Peripheral nerve disease" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:302226006
xref: SNOMEDCT_US:42345000
xref: SNOMEDCT_US:42658009
xref: UMLS:C0031117
xref: UMLS:C0152025
is_a: HP:0009830 ! Peripheral neuropathy

[Term]
id: HP:0001272
name: Cerebellar atrophy
alt_id: HP:0002364
alt_id: HP:0006839
alt_id: HP:0007072
alt_id: HP:0007203
def: "Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event." [https://orcid.org/0000-0002-0736-9199, PMID:12169461, PMID:26331051]
comment: Cerebellar atrophy can be diagnosed if the cerebellum is small with shrunken folia and large cerebellar fissures or if it has been shown to undergo progressive volume loss.
synonym: "Atrophic cerebellum" EXACT []
synonym: "Degeneration of cerebellum" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Infratentorial atrophy" RELATED []
xref: SNOMEDCT_US:95646004
xref: UMLS:C0262404
xref: UMLS:C0740279
xref: UMLS:C4020873
is_a: HP:0001317 ! Abnormal cerebellum morphology

[Term]
id: HP:0001273
name: Abnormal corpus callosum morphology
alt_id: HP:0007323
def: "Abnormality of the corpus callosum." [https://orcid.org/0000-0002-0736-9199, PMID:21263138]
comment: The corpus callosum, a broad thick band of nerve fibers that connects the right and left cerebral hemispheres, is the largest white matter structure in the brain. This finding can be demonstrated by cerebral magenetic resonance tomography. The corpus callosum structurally consists of 4 major anatomic features including the rostrum, genu, corpus, and splenium.
synonym: "Abnormal corpus callosum" EXACT []
synonym: "Abnormality of the corpus callosum" EXACT []
synonym: "Corpus callosum abnormality" EXACT []
xref: UMLS:C1842581
is_a: HP:0002500 ! Abnormal cerebral white matter morphology

[Term]
id: HP:0001274
name: Agenesis of corpus callosum
alt_id: HP:0006800
def: "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absence of corpus callosum" EXACT []
synonym: "Absent corpus callosum" EXACT []
synonym: "Agenesis of the corpus callosum" EXACT []
synonym: "Callosal agenesis" EXACT []
synonym: "Corpus callosum agenesis" EXACT []
synonym: "Dysplastic or absent corpus callosum" EXACT []
xref: Fyler:4321
xref: SNOMEDCT_US:5102002
xref: UMLS:C0175754
is_a: HP:0007370 ! Aplasia/Hypoplasia of the corpus callosum

[Term]
id: HP:0001276
name: Hypertonia
alt_id: HP:0002388
def: "A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move." [https://orcid.org/0000-0002-0736-9199]
comment: Spasticity is a term that is often used interchangeably with hypertonia. Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement. In this type, patients usually have exaggerated reflex responses.
synonym: "Hypertonicity" EXACT []
synonym: "Increased muscle tone" EXACT []
synonym: "Muscle hypertonia" RELATED []
synonym: "Spasticity and rigidity of muscles" NARROW layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:41581000
xref: SNOMEDCT_US:56731001
xref: UMLS:C0026826
is_a: HP:0003808 ! Abnormal muscle tone

[Term]
id: HP:0001278
name: Orthostatic hypotension
alt_id: HP:0004932
alt_id: HP:0006700
def: "A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decrease in blood pressure upon standing up" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Postural hypotension" EXACT []
xref: SNOMEDCT_US:28651003
xref: UMLS:C0020651
is_a: HP:0002615 ! Hypotension
is_a: HP:0012332 ! Abnormal autonomic nervous system physiology

[Term]
id: HP:0001279
name: Syncope
def: "Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow." [https://orcid.org/0000-0002-0736-9199, PMID:29255499]
synonym: "Fainting spell" EXACT layperson []
xref: SNOMEDCT_US:271594007
xref: SNOMEDCT_US:272030005
xref: SNOMEDCT_US:309585006
xref: UMLS:C0039070
is_a: HP:0011025 ! Abnormal cardiovascular system physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-25T10:37:00Z

[Term]
id: HP:0001281
name: Tetany
def: "A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency." []
synonym: "Intermittent involuntary muscle spasm" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:10629009
xref: UMLS:C0039621
is_a: HP:0011804 ! Abnormal muscle physiology

[Term]
id: HP:0001283
name: Bulbar palsy
alt_id: HP:0003441
alt_id: HP:0003709
def: "Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bulbar muscle weakness" EXACT []
synonym: "Bulbar palsies" EXACT []
synonym: "Bulbar weakness" EXACT []
xref: SNOMEDCT_US:398432008
xref: UMLS:C1301959
xref: UMLS:C4082299
is_a: HP:0001324 ! Muscle weakness
is_a: HP:0012638 ! Abnormal nervous system physiology

[Term]
id: HP:0001284
name: Areflexia
alt_id: HP:0001314
def: "Absence of neurologic reflexes such as the knee-jerk reaction." [https://orcid.org/0000-0002-0736-9199]
comment: The stretch reflexes (also called deep tendon reflexes) include the knee-jerk reflex (patellar reflex, the biceps reflex, the triceps reflex, and the ankle jerk reflex or Achilles tendon reflex).
synonym: "Absent deep tendon reflexes" EXACT []
synonym: "Absent reflexes" BROAD layperson []
synonym: "Absent tendon reflexes" EXACT layperson []
synonym: "Deep tendon reflexes absent" EXACT []
synonym: "Loss of deep tendon reflexes" EXACT []
synonym: "Lost deep tendon reflexes" EXACT []
xref: SNOMEDCT_US:349006
xref: SNOMEDCT_US:37280007
xref: UMLS:C0234146
xref: UMLS:C0241772
xref: UMLS:C0278124
is_a: HP:0001315 ! Reduced tendon reflexes

[Term]
id: HP:0001285
name: Spastic tetraparesis
alt_id: HP:0002393
def: "Spastic weakness affecting all four limbs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Spastic quadriparesis" EXACT []
xref: SNOMEDCT_US:298282001
xref: UMLS:C0575059
is_a: HP:0002273 ! Tetraparesis
is_a: HP:0034353 ! Appendicular spasticity

[Term]
id: HP:0001287
name: Meningitis
def: "Inflammation of the meninges." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:7180009
xref: UMLS:C0025289
is_a: HP:0011450 ! Unusual CNS infection

[Term]
id: HP:0001288
name: Gait disturbance
alt_id: HP:0002355
alt_id: HP:0006953
alt_id: HP:0007101
alt_id: HP:0009030
def: "The term gait disturbance can refer to any disruption of the ability to walk." [https://orcid.org/0000-0002-0736-9199, PMID:27770207]
comment: Gait disturbances can be caused by neurological or muscular diseases but also fractures or other sources of pain that is triggered upon walking.
synonym: "Abnormal gait" EXACT layperson []
synonym: "Abnormal walk" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Difficulty in walking" EXACT layperson []
synonym: "Gait abnormalities" EXACT []
synonym: "Gait difficulties" EXACT []
synonym: "Gait disturbances" EXACT []
synonym: "Impaired gait" EXACT layperson []
synonym: "Walking disability" EXACT []
xref: SNOMEDCT_US:22325002
xref: UMLS:C0575081
is_a: HP:0100022 ! Abnormality of movement

[Term]
id: HP:0001289
name: Confusion
alt_id: HP:0000731
def: "Lack of clarity and coherence of thought, perception, understanding, or action." []
synonym: "Confusion" EXACT layperson []
synonym: "Disorientation" EXACT layperson []
synonym: "Easily confused" EXACT layperson []
synonym: "Mental disorientation" EXACT layperson []
xref: SNOMEDCT_US:286933003
xref: UMLS:C0009676
is_a: HP:0100543 ! Cognitive impairment
property_value: terms:contributor https://orcid.org/0000-0001-6262-8264
property_value: terms:contributor https://orcid.org/0000-0001-9446-5121
property_value: terms:contributor https://orcid.org/0000-0002-1592-0825
property_value: terms:contributor https://orcid.org/0000-0002-4672-4923
property_value: terms:contributor https://orcid.org/0000-0002-5554-6946
property_value: terms:contributor https://orcid.org/0000-0002-7367-663X

[Term]
id: HP:0001290
name: Generalized hypotonia
def: "Generalized muscular hypotonia (abnormally low muscle tone)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Generalised decreased muscle tone" EXACT uk_spelling []
synonym: "Generalised hypotonia" EXACT uk_spelling []
synonym: "Generalised muscular hypotonia" EXACT uk_spelling []
synonym: "Generalized decreased muscle tone" EXACT layperson []
synonym: "Generalized muscular hypotonia" EXACT []
synonym: "Hypotonia, generalised" EXACT uk_spelling []
synonym: "Hypotonia, generalized" EXACT []
xref: UMLS:C1858120
is_a: HP:0001252 ! Hypotonia

[Term]
id: HP:0001291
name: Abnormal cranial nerve morphology
alt_id: HP:0003480
def: "Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of cranial nerve" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the cranial nerves" EXACT []
synonym: "Cranial nerve abnormality" RELATED []
synonym: "Cranial nerve disease" EXACT []
synonym: "Cranial nerve involvement" EXACT []
xref: UMLS:C1854510
xref: UMLS:C4020872
is_a: HP:0000759 ! Abnormal peripheral nervous system morphology

[Term]
id: HP:0001293
name: Cranial nerve compression
xref: SNOMEDCT_US:95664006
xref: UMLS:C0521670
is_a: HP:0001291 ! Abnormal cranial nerve morphology

[Term]
id: HP:0001297
name: Stroke
alt_id: HP:0002452
def: "Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cerebral vascular events" EXACT []
synonym: "Cerebrovascular accident" EXACT []
synonym: "Cerebrovascular accidents" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Stroke" EXACT layperson []
xref: SNOMEDCT_US:230690007
xref: UMLS:C0038454
is_a: HP:0100659 ! Abnormal cerebral vascular morphology

[Term]
id: HP:0001298
name: Encephalopathy
def: "Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state." [HPO_CONTRIBUTOR:KI_phemming, https://orcid.org/0000-0002-0736-9199]
comment: This term and its children are general and bundled terms that are kept for convenience. For new annotations, it is recommended that the specific phenotypic abnormalities be noted.
xref: SNOMEDCT_US:81308009
xref: UMLS:C0085584
is_a: HP:0012638 ! Abnormal nervous system physiology

[Term]
id: HP:0001300
name: Parkinsonism
def: "Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait." [https://orcid.org/0000-0002-0736-9199]
synonym: "Parkinsonian disease" RELATED []
xref: SNOMEDCT_US:32798002
xref: UMLS:C0242422
is_a: HP:0002071 ! Abnormality of extrapyramidal motor function

[Term]
id: HP:0001301
name: Chronic sensorineural polyneuropathy
xref: UMLS:C4025794
is_a: HP:0009830 ! Peripheral neuropathy

[Term]
id: HP:0001302
name: Pachygyria
alt_id: HP:0007227
def: "Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly." [http://www.wikidata.org/entity/Q90573458, https://orcid.org/0000-0002-0736-9199, PMID:22427329]
synonym: "Cerebral pachygyria" EXACT []
synonym: "Fewer and broader ridges in brain" EXACT layperson []
synonym: "Macrogyria" EXACT []
xref: SNOMEDCT_US:23024003
xref: UMLS:C0266483
is_a: HP:0001339 ! Lissencephaly

[Term]
id: HP:0001304
name: Torsion dystonia
def: "Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body." [https://orcid.org/0000-0002-0736-9199]
synonym: "Dystonia musculorum deformans" EXACT []
xref: SNOMEDCT_US:22451001
xref: SNOMEDCT_US:431034009
xref: UMLS:C0013423
is_a: HP:0001332 ! Dystonia

[Term]
id: HP:0001305
name: Dandy-Walker malformation
alt_id: HP:0001313
alt_id: HP:0006809
def: "A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal." [https://orcid.org/0000-0002-0736-9199, PMID:26246090]
synonym: "Dandy-walker anomaly" EXACT []
synonym: "Dandy-Walker cyst" EXACT []
xref: SNOMEDCT_US:14447001
xref: UMLS:C0010964
is_a: HP:0001320 ! Cerebellar vermis hypoplasia
is_a: HP:0002198 ! Dilated fourth ventricle
is_a: HP:0002350 ! Cerebellar cyst
is_a: HP:0005445 ! Enlarged posterior fossa

[Term]
id: HP:0001308
name: Tongue fasciculations
alt_id: HP:0003727
def: "Fasciculations or fibrillation affecting the tongue muscle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Lingual fasciculations" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Lingual fibrillations" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Lingual twitching" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Tongue fasciculation" EXACT []
synonym: "Tongue fasciculations/fibrillations" EXACT []
synonym: "Tongue twitching" EXACT layperson []
synonym: "Twitching of the tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:249878001
xref: UMLS:C0239548
is_a: HP:0002380 ! Fasciculations
is_a: HP:0010546 ! Muscle fibrillation
is_a: HP:0030810 ! Abnormal tongue physiology

[Term]
id: HP:0001310
name: Dysmetria
def: "A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements." [https://orcid.org/0000-0002-0736-9199]
comment: Dysmetria can result in moving beyond the target (hypermetria) or failing to reach the target (hypometria) during a voluntary movement. Dysmetria can be assessed clinically by the finger chase test, whereby the examiner and the proband are sitting, and the examiner suddenly moves his or her finger five times in an unpredictable direction in a frontal plane, with movements having an amplitude of about 30 cm and a frequency of once every two seconds. The proband is asked to follow the movements with his or her index finger. The test is abnormal if the proband substantially under- or overshoots or cannot perform pointing movements at all. The finger-nose-finger test is similar, and the proband is asked to alternately touch his or her own nose and then to point to the finger of the examiner.
synonym: "Abnormal finger chase test" RELATED []
synonym: "Abnormal finger-nose-finger test" RELATED []
synonym: "Lack of coordination of movement" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:32566006
xref: UMLS:C0234162
is_a: HP:0001251 ! Ataxia

[Term]
id: HP:0001311
name: Abnormal nervous system electrophysiology
alt_id: HP:0002531
alt_id: HP:0003129
def: "An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations." [https://orcid.org/0000-0002-0736-9199]
synonym: "Neurophysiologic abnormalities" EXACT []
synonym: "Neurophysiologic abnormality" EXACT []
xref: UMLS:C4021781
is_a: HP:0012638 ! Abnormal nervous system physiology

[Term]
id: HP:0001312
name: Giant somatosensory evoked potentials
def: "An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials." [https://orcid.org/0000-0002-0736-9199]
synonym: "Giant SEPS" EXACT []
xref: UMLS:C3806961
is_a: HP:0007377 ! Abnormality of somatosensory evoked potentials

[Term]
id: HP:0001315
name: Reduced tendon reflexes
alt_id: HP:0001316
def: "Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease." [https://orcid.org/0000-0002-0736-9199, PMID:20941667]
comment: The deep tendon reflex is a monosynaptic reflex arc with sensory and motor nerve components, but the arc is much more vulnerable to sensory nerve damage. Ankle plantar flexion is retained in all but the most severe peripheral neuropathies, and thus loss of the Achilles tendon reflex in an objective indication of a substantial sensory nerve defect.
synonym: "Absent or decreased deep tendon reflexes" EXACT []
synonym: "Decreased deep tendon reflexes" EXACT []
synonym: "Decreased tendon reflexes" EXACT []
synonym: "Decreased to absent deep tendon reflexes" EXACT []
synonym: "Decreased/absent deep tendon reflexes" EXACT []
synonym: "Depressed tendon reflexes" EXACT []
synonym: "Diminished deep tendon reflexes" EXACT []
synonym: "Diminished or absent deep tendon reflexes" EXACT []
synonym: "Diminished or absent tendon reflexes" EXACT []
synonym: "Hypoactive to absent deep tendon reflexes" EXACT []
synonym: "Impaired tendon reflexes" EXACT []
synonym: "Reduced/absent deep tendon reflexes" EXACT []
synonym: "Weak or absent deep tendon reflexes" EXACT []
xref: UMLS:C1866934
is_a: HP:0031826 ! Abnormal reflex

[Term]
id: HP:0001317
name: Abnormal cerebellum morphology
def: "Any structural abnormality of the cerebellum." [https://orcid.org/0000-0002-0736-9199, PMID:27160001]
comment: A malformed cerebellum may be abnormally small, dysplastic, or unusually large. The vermis and both hemispheres may be equally or disproportionately affected. Primary malformations of the pons, midbrain, and supratentorial structures are also seen in a substantial subset of patients. The wide range in morphological presentations results from the diversity of causes, including chromosomal abnormalities, specific genetic syndromes, and extrinsic factors.
synonym: "Abnormality of the cerebellum" EXACT layperson []
synonym: "Cerebellar abnormalities" EXACT layperson []
synonym: "Cerebellar abnormality" EXACT layperson []
synonym: "Cerebellar anomaly" EXACT layperson []
synonym: "Cerebellar signs" EXACT []
xref: UMLS:C0742038
xref: UMLS:C1866129
is_a: HP:0011283 ! Abnormal metencephalon morphology

[Term]
id: HP:0001319
name: Neonatal hypotonia
alt_id: HP:0006830
alt_id: HP:0008976
def: "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [https://orcid.org/0000-0002-0736-9199]
synonym: "Congenital hypotonia" RELATED []
synonym: "Hypotonia, in neonatal onset" EXACT []
synonym: "Hypotonia, neonatal" EXACT []
synonym: "Low muscle tone, in neonatal onset" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:205294008
xref: UMLS:C2267233
is_a: HP:0001252 ! Hypotonia

[Term]
id: HP:0001320
name: Cerebellar vermis hypoplasia
def: "Underdevelopment of the vermis of cerebellum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cerebellar vermal hypoplasia" EXACT []
synonym: "Hypoplasia of the cerebellar vermis" EXACT []
synonym: "Hypoplastic cerebellar vermis" EXACT []
xref: UMLS:C1840379
is_a: HP:0001321 ! Cerebellar hypoplasia
is_a: HP:0006817 ! Aplasia/Hypoplasia of the cerebellar vermis

[Term]
id: HP:0001321
name: Cerebellar hypoplasia
alt_id: HP:0006806
alt_id: HP:0006910
alt_id: HP:0007038
alt_id: HP:0007053
def: "Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time." [https://orcid.org/0000-0002-0736-9199, PMID:26331051, PMID:27160001]
comment: By prenatal ultrasound, cerebellar hypoplasia is diagnosed if the cerebellum measures more than two standard deviations below the mean. In adults, cerebellar hypoplasia is typically diagnosed by computer tomography or magnetic resonance imaging. Cerebellar hypoplasia can be diagnosed if there is a small cerebellum with fissures of normal size compared with the folia (this is a distinguishing characteristic compared with cerebellar atrophy). Cerebellar hypoplasia (CH) refers to an underdevelopment of the cerebellum. This category of cerebellar malformation is distinct from Dandy Walker malformation in that it does not involve a concurrent enlargement of the posterior fossa, and almost all individuals exhibit cognitive and motor impairments.
synonym: "Congenital cerebellar hypoplasia" EXACT []
synonym: "Hypoplasia of cerebellum" EXACT []
synonym: "Hypoplastic cerebellum" EXACT []
synonym: "Small cerebellum" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Underdeveloped cerebellum" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:16026008
xref: UMLS:C0266470
is_a: HP:0007360 ! Aplasia/Hypoplasia of the cerebellum

[Term]
id: HP:0001322
name: obsolete Brain very small
is_obsolete: true
replaced_by: HP:0006872

[Term]
id: HP:0001324
name: Muscle weakness
alt_id: HP:0002309
alt_id: HP:0008979
alt_id: HP:0009012
alt_id: HP:0009061
def: "Reduced strength of muscles." [https://orcid.org/0000-0002-0736-9199, PMID:15832536]
comment: It is important clinical to distinguish between muscle weakness, fatigue, and asthenia. Fatigue describes the inability to continue performing a task after multiple repetitions; in contrast, a patient with primary weakness is unable to perform the first repetition of the task. Asthenia is a sense of weariness or exhaustion in the absence of muscle weakness. Conditions that result in intrinsic muscle weakness can be divided into several main categories: infectious, neurologic, endocrine, inflammatory, rheumatologic, genetic, metabolic, electrolyte-induced, or drug-induced.
synonym: "Muscle weakness" EXACT layperson []
synonym: "Muscular weakness" EXACT layperson []
xref: SNOMEDCT_US:26544005
xref: UMLS:C0151786
is_a: HP:0011804 ! Abnormal muscle physiology

[Term]
id: HP:0001325
name: Hypoglycemic coma
def: "Coma induced by low blood sugar." []
synonym: "Coma caused by low blood sugar" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Coma, hypoglycemic" EXACT []
synonym: "Hypoglycaemic coma" EXACT []
synonym: "Hypoglycemic coma" EXACT []
synonym: "Loss of consciousness due to hypoglycemia" EXACT []
xref: SNOMEDCT_US:267384006
xref: UMLS:C0020617
is_a: HP:0001259 ! Coma
property_value: terms:contributor https://orcid.org/0000-0001-6262-8264
property_value: terms:contributor https://orcid.org/0000-0001-9446-5121
property_value: terms:contributor https://orcid.org/0000-0002-1592-0825
property_value: terms:contributor https://orcid.org/0000-0002-4672-4923
property_value: terms:contributor https://orcid.org/0000-0002-5554-6946
property_value: terms:contributor https://orcid.org/0000-0002-7367-663X

[Term]
id: HP:0001326
name: EEG with irregular generalized spike and wave complexes
def: "EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency." [HPO_CONTRIBUTOR:jalbers]
synonym: "EEG with irregular generalised spike and wave complexes" EXACT uk_spelling []
xref: UMLS:C4025792
is_a: HP:0010850 ! EEG with spike-wave complexes

[Term]
id: HP:0001327
name: Photosensitive myoclonic seizure
def: "Generalised myoclonic seizure provoked by flashing or flickering light." [PMID:28276060]
synonym: "Photically induced myoclonic seizure" EXACT []
synonym: "Photomyoclonic seizure" EXACT []
synonym: "Photomyoclonic seizures" EXACT plural_form []
xref: UMLS:C4025791
is_a: HP:0002123 ! Generalized myoclonic seizure
is_a: HP:0020216 ! Visually-induced seizure

[Term]
id: HP:0001328
name: Specific learning disability
alt_id: HP:0007234
def: "Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence." [https://orcid.org/0000-0002-0736-9199]
comment: The term learning disability is used with different meanings in different contexts. Significant impairments of mental functioning with a reduction in IQ below 70 should be coded as mental retardation.
xref: UMLS:C4025790
is_a: HP:0012759 ! Neurodevelopmental abnormality

[Term]
id: HP:0001331
name: Absent septum pellucidum
alt_id: HP:0006969
def: "Absence of the septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius. The septum pellucidum is a thin, triangular double membrane separating the frontal horns of the right and left lateral ventricles of the brain. It extends between the anterior portion of the corpus callosum, and the body of the fornix and its width varies from 1.5 to 3.0 mm." [https://orcid.org/0000-0002-0736-9199, PMID:30725733]
comment: In contrast to the septum pellucidum, the cavum septum pellucidum (CSP) is a potential cavity between the membranous leaves of the septum pellucidum, separated by at least 1 mm, and is considered a normal anatomical variation.
synonym: "Absence of septum pellucidum" EXACT []
synonym: "Absence of the septum pellucidum" EXACT []
synonym: "Agenesis of the septum pellucidum" EXACT []
synonym: "Missing septum pellucidum" EXACT [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:253143001
xref: UMLS:C0431371
is_a: HP:0007375 ! Abnormal septum pellucidum morphology

[Term]
id: HP:0001332
name: Dystonia
alt_id: HP:0002328
def: "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [https://orcid.org/0000-0002-0736-9199]
synonym: "Dystonic disease" RELATED []
synonym: "Dystonic movements" EXACT []
xref: UMLS:C0013421
xref: UMLS:C4020871
is_a: HP:0100022 ! Abnormality of movement

[Term]
id: HP:0001334
name: Communicating hydrocephalus
def: "A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space." [eMedicine:1135286, https://orcid.org/0000-0002-0736-9199]
comment: Communicating hydrocephalus may be caused by overproduction of CSF, defective absorption of CSF (the most common cause) or venous drainage insufficiency.
xref: SNOMEDCT_US:271569006
xref: UMLS:C0009451
is_a: HP:0000238 ! Hydrocephalus

[Term]
id: HP:0001335
name: Bimanual synkinesia
def: "Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand." [https://orcid.org/0000-0002-0736-9199, PMID:22412265, PMID:28945198]
comment: Mirror movement refers to simultaneous contralateral, involuntary, identical movements that accompany voluntary movements. Erlenmeyer first used this term in 1879. The definition of mirror movement as involuntary, synkinetic mirror reversals of an intended movement of opposite side was coined by Cohen et al. in 1991. These movements are soft, neurologic signs, seen uncommonly in clinical practice.
synonym: "Hand mirror movements" EXACT layperson []
synonym: "Mirror hand movements" EXACT layperson []
synonym: "Mirror movements" EXACT layperson []
xref: SNOMEDCT_US:229247004
xref: UMLS:C0454455
is_a: HP:0034980 ! Synkinesis

[Term]
id: HP:0001336
name: Myoclonus
alt_id: HP:0002535
alt_id: HP:0007087
def: "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [https://orcid.org/0000-0002-0736-9199, PMID:20589866]
comment: Myoclonus may be synchronous (several muscle contracting simultaneously), spreading (several muscles contracting in sequence), or asynchronous (several muscles contracting with varying and unpredictable relative timing). Myoclonus is characterized by sudden unidirectional movement due to muscle contraction (positive myoclonus) or due to sudden brief muscle relaxation (negative myoclonus). Electrophysiological tests are very helpful in determining whether myoclonus is cortical, subcortical or spinal.
synonym: "Involuntary jerking movements" RELATED []
synonym: "Jerking" BROAD layperson []
synonym: "Myoclonic jerks" EXACT []
xref: SNOMEDCT_US:127324008
xref: SNOMEDCT_US:17450006
xref: UMLS:C0027066
xref: UMLS:C1854302
is_a: HP:0004305 ! Involuntary movements

[Term]
id: HP:0001337
name: Tremor
alt_id: HP:0001295
alt_id: HP:0001309
def: "An unintentional, oscillating to-and-fro muscle movement about a joint axis." [https://orcid.org/0000-0002-0736-9199, PMID:16344298, PMID:20589866]
comment: Tremor is differentiated from other involuntary movement disorders, such as chorea, athetosis, ballism, tics, and myoclonus, by its repetitive, stereotyped movements of a regular amplitude and frequency. Clonus, unlike tremor, represents a rhythmic movement, which is increased by muscle stretching.
synonym: "Tremor" EXACT layperson []
synonym: "Tremors" EXACT plural_form []
xref: SNOMEDCT_US:26079004
xref: UMLS:C0040822
is_a: HP:0004305 ! Involuntary movements

[Term]
id: HP:0001338
name: Partial agenesis of the corpus callosum
alt_id: HP:0006982
alt_id: HP:0007090
alt_id: HP:0007128
def: "A partial failure of the development of the corpus callosum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Corpus callosum agenesis, partial" EXACT []
synonym: "Partial agenesis of corpus callosum" EXACT []
synonym: "Partial corpus callosum agenesis" EXACT []
synonym: "Partial or complete agenesis of corpus callosum" EXACT []
synonym: "Partial or complete agenesis of the corpus callosum" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Partial to complete agenesis of corpus callosum" EXACT []
synonym: "Partial-total agenesis of corpus callosum" EXACT []
xref: SNOMEDCT_US:253140003
xref: UMLS:C0431368
xref: UMLS:C1857278
is_a: HP:0001274 ! Agenesis of corpus callosum

[Term]
id: HP:0001339
name: Lissencephaly
alt_id: HP:0002537
def: "A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly." [http://www.wikidata.org/entity/Q90573458, https://orcid.org/0000-0002-0736-9199, PMID:28440899]
comment: Lissencephaly (LIS, which subsumes the terms agyria and pachygyria), together with subcortical-band heterotopia (SBH) comprises a spectrum of malformations of cortical development caused by insufficient neuronal migration. The key features of LIS are an abnormally thick cortex with reduced or absent formation of the cerebral convolutions, while SBH consists of abnormal bands of neurons beneath a normal cortex, although the cerebral gyri may be separated by unusually shallow sulci.
synonym: "Fewer or absent grooves in brain" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:204036008
xref: UMLS:C0266463
xref: UMLS:C1879312
is_a: HP:0002536 ! Abnormal cortical gyration

[Term]
id: HP:0001340
name: Enhancement of the C-reflex
def: "Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response." [https://orcid.org/0000-0002-0736-9199, PMID:4819909]
xref: UMLS:C3552824
is_a: HP:0007377 ! Abnormality of somatosensory evoked potentials

[Term]
id: HP:0001341
name: Olfactory lobe agenesis
synonym: "Olfactory lobe absence" EXACT layperson []
xref: UMLS:C1855331
is_a: HP:0025057 ! Abnormal olfactory lobe morphology

[Term]
id: HP:0001342
name: Cerebral hemorrhage
alt_id: HP:0002137
def: "Hemorrhage into the parenchyma of the brain." [HPO_CONTRIBUTOR:gcarletti]
comment: A cerebral hemorrhage (or intracerebral hemorrhage, ICH), is a type of intracranial hemorrhage that occurs within the brain tissue itself.
synonym: "Bleeding in brain" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Cerebral haemorrhage" EXACT uk_spelling []
synonym: "Hemorrhagic stroke" RELATED [https://orcid.org/0000-0001-6908-9849]
synonym: "Intracerebral haemorrhage" EXACT uk_spelling []
synonym: "Intracerebral hemorrhage" EXACT []
xref: SNOMEDCT_US:230706003
xref: SNOMEDCT_US:274100004
xref: UMLS:C0553692
xref: UMLS:C2937358
is_a: HP:0002170 ! Intracranial hemorrhage

[Term]
id: HP:0001343
name: Kernicterus
def: "Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:50143004
xref: SNOMEDCT_US:74925009
xref: UMLS:C0022610
is_a: HP:0012443 ! Abnormal brain morphology

[Term]
id: HP:0001344
name: Absent speech
alt_id: HP:0001617
alt_id: HP:0006798
def: "Complete lack of development of speech and language abilities." [https://orcid.org/0000-0002-0736-9199]
comment: This term should not be used in very young children.
synonym: "Absent speech development" EXACT layperson []
synonym: "Lack of language development" EXACT layperson []
synonym: "Lack of speech" EXACT layperson []
synonym: "No speech development" EXACT layperson []
synonym: "No speech or language development" EXACT layperson []
synonym: "Nonverbal" EXACT layperson [https://orcid.org/0000-0001-9114-8737]
xref: UMLS:C0746940
xref: UMLS:C1854882
is_a: HP:0000750 ! Delayed speech and language development

[Term]
id: HP:0001345
name: Psychotic mentation
def: "A pattern of thinking and perceiving characterized by a loss of contact with reality, leading to significant changes in thoughts, perceptions, and behaviors." []
xref: UMLS:C4025789
is_a: HP:5200430 ! Abnormal psychotic pattern
property_value: terms:contributor https://orcid.org/0000-0001-7062-8192
property_value: terms:contributor https://orcid.org/0000-0001-7941-2961
property_value: terms:contributor https://orcid.org/0000-0001-9221-9226
property_value: terms:contributor https://orcid.org/0000-0002-0183-1637
property_value: terms:contributor https://orcid.org/0000-0003-1785-7126
property_value: terms:contributor https://orcid.org/0000-0003-2291-6952
property_value: terms:contributor https://orcid.org/0000-0003-4958-6025

[Term]
id: HP:0001347
name: Hyperreflexia
alt_id: HP:0001282
alt_id: HP:0006820
alt_id: HP:0007184
alt_id: HP:0007318
def: "Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles." [https://orcid.org/0000-0002-0736-9199]
comment: Reflexes are graded according to the following scale: 0=absent; 1=present but diminished; 2=normoactive; 3=exaggerated; and 4=clonus. Clonus is always abnormal, and a grade 3 reflex may be abnormal if it is asymmetric or if it was previously grade 2 or less.
synonym: "Increased deep tendon reflexes" EXACT []
synonym: "Increased reflexes" EXACT layperson []
xref: SNOMEDCT_US:86854008
xref: UMLS:C0151889
is_a: HP:0031826 ! Abnormal reflex

[Term]
id: HP:0001348
name: Brisk reflexes
def: "Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal." []
synonym: "Brisk deep tendon reflexes" EXACT []
xref: UMLS:C2673700
is_a: HP:0001347 ! Hyperreflexia

[Term]
id: HP:0001349
name: Facial diplegia
alt_id: HP:0005334
alt_id: HP:0007085
def: "Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy)." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Bilateral facial weakness" EXACT []
synonym: "Facial paresis, bilateral" EXACT []
xref: UMLS:C1836003
is_a: HP:0010628 ! Facial palsy

[Term]
id: HP:0001350
name: Slurred speech
def: "Abnormal coordination of muscles involved in speech." [https://orcid.org/0000-0002-9102-5232]
synonym: "Slurred speech" EXACT layperson []
xref: SNOMEDCT_US:289195008
xref: UMLS:C0234518
is_a: HP:0011443 ! Abnormality of coordination

[Term]
id: HP:0001351
name: Jerk-locked premyoclonus spikes
def: "Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG." [https://orcid.org/0000-0002-0736-9199, PMID:1464676, PMID:30653168]
comment: EEG-EMG jerk-locked averaging is a technique that combines EEG and EMG to assess myoclonus. The technique use electromyography (EMG) electrodes for the arms or legs, and correlates averaged EEG responses with EMG bursts used as a trigger.
xref: UMLS:C3552825
is_a: HP:0030178 ! Abnormality of central nervous system electrophysiology

[Term]
id: HP:0001355
name: Megalencephaly
def: "Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia)." [http://www.wikidata.org/entity/Q90573458, https://orcid.org/0000-0002-0736-9199, PMID:28658095, PMID:29594439]
comment: Megalencephaly is defined as fronto-occipital diameter above two standard deviations of the mean for the patient's age because of an oversized brain parenchyma. This is different from macrocephaly, which is defined by an enlarged head circumference and therefore accounts also for the size of the extra-axial spaces.
synonym: "Enlarged brain" BROAD layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Macrencephaly" EXACT []
xref: SNOMEDCT_US:19410003
xref: UMLS:C0221355
is_a: HP:0002060 ! Abnormal cerebral morphology

[Term]
id: HP:0001357
name: Plagiocephaly
alt_id: HP:0001121
def: "Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape." [PMID:19125436]
comment: Plagiocephaly may affect the posterior skull alone. With plagiocephaly, one can see a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape or asymmetry of the posterior skull alone.
subset: hposlim_core
synonym: "Asymmetry of the posterior cranium" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Asymmetry of the posterior head" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Asymmetry of the posterior skull" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformational plagiocephaly" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Flat head" BROAD [https://orcid.org/0000-0002-5316-1399]
synonym: "Flat head syndrome" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Flattening of cranial vault" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Flattening of cranium" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Flattening of head" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Flattening of skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Positional plagiocephaly" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Rhomboid shaped cranium" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Rhomboid shaped head" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Rhomboid shaped skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:21850008
xref: SNOMEDCT_US:254024005
xref: UMLS:C0265529
xref: UMLS:C1450010
xref: UMLS:C4072830
xref: UMLS:C4280597
xref: UMLS:C4280598
xref: UMLS:C4280807
is_a: HP:0002683 ! Abnormal calvaria morphology

[Term]
id: HP:0001360
name: Holoprosencephaly
alt_id: HP:0009807
def: "Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles." [https://orcid.org/0000-0002-0736-9199]
comment: The presence of a single cerebral ventricle (instead of the usual four) may be seen as part of holoprosencephaly.
synonym: "Single brain ventricle" EXACT []
xref: Fyler:4338
xref: SNOMEDCT_US:30915001
xref: UMLS:C0079541
is_a: HP:0012443 ! Abnormal brain morphology

[Term]
id: HP:0001361
name: Nystagmus-induced head nodding
def: "Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025788
is_a: HP:0000639 ! Nystagmus

[Term]
id: HP:0001362
name: Calvarial skull defect
def: "A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year." [https://orcid.org/0000-0002-0736-9199]
synonym: "Calvarial defect" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Cranial defect" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Skull defect" EXACT layperson []
xref: UMLS:C4025787
xref: UMLS:C4280595
xref: UMLS:C4280596
is_a: HP:0002683 ! Abnormal calvaria morphology

[Term]
id: HP:0001363
name: Craniosynostosis
alt_id: HP:0001365
alt_id: HP:0004494
alt_id: HP:0005448
alt_id: HP:0005457
alt_id: HP:0005467
alt_id: HP:0008492
def: "Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth." [https://orcid.org/0000-0002-0736-9199]
comment: Skull deformity caused by the premature closure of the cranial sutures. Craniostenosis is a deformity of the skull caused by craniosynostosis, with consequent cessation of skull growth.
subset: hposlim_core
synonym: "Cranial suture synostosis" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Craniostenosis" RELATED []
synonym: "Craniosyostosis" EXACT []
synonym: "Deformity of the skull" BROAD layperson [https://en.wikipedia.org/wiki/Craniosynostosis, https://orcid.org/0000-0002-9353-5498]
synonym: "Early fusion of cranial sutures" EXACT []
synonym: "Premature closure of cranial sutures" EXACT []
synonym: "Premature suture closure" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: Fyler:4336
xref: SNOMEDCT_US:57219006
xref: UMLS:C0010278
xref: UMLS:C0235942
is_a: HP:0002683 ! Abnormal calvaria morphology
is_a: HP:0011329 ! Abnormality of cranial sutures

[Term]
id: HP:0001367
name: Abnormal joint morphology
def: "An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal shape of joints" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the joints" EXACT layperson []
synonym: "Anomaly of the joints" EXACT layperson []
synonym: "Joint disease" RELATED layperson []
xref: SNOMEDCT_US:399269003
xref: UMLS:C0022408
xref: UMLS:C0240083
is_a: HP:0011842 ! Abnormal skeletal morphology

[Term]
id: HP:0001369
name: Arthritis
def: "Inflammation of a joint." [https://orcid.org/0000-0002-0736-9199]
synonym: "Arthritis" EXACT layperson []
synonym: "Joint inflammation" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:3723001
xref: UMLS:C0003864
is_a: HP:0001367 ! Abnormal joint morphology

[Term]
id: HP:0001370
name: Rheumatoid arthritis
def: "Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures." [https://orcid.org/0000-0002-0736-9199]
synonym: "RA" EXACT abbreviation []
synonym: "Rheumatoid arthritis" EXACT layperson []
xref: SNOMEDCT_US:69896004
xref: UMLS:C0003873
is_a: HP:0001369 ! Arthritis

[Term]
id: HP:0001371
name: Flexion contracture
alt_id: HP:0001372
alt_id: HP:0001381
alt_id: HP:0005053
alt_id: HP:0005189
alt_id: HP:0005660
def: "A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints." [https://orcid.org/0000-0002-0736-9199]
synonym: "Flexed joint that cannot be straightened" EXACT layperson []
synonym: "Flexion contractures" EXACT []
synonym: "Flexion contractures of joints" EXACT []
xref: SNOMEDCT_US:203598005
xref: SNOMEDCT_US:385522000
xref: SNOMEDCT_US:55033002
xref: SNOMEDCT_US:57048009
xref: SNOMEDCT_US:7890003
xref: SNOMEDCT_US:88565003
xref: UMLS:C0009917
xref: UMLS:C0009918
xref: UMLS:C0333068
xref: UMLS:C1850530
is_a: HP:0034392 ! Joint contracture

[Term]
id: HP:0001373
name: Joint dislocation
alt_id: HP:0002772
alt_id: HP:0005837
def: "Displacement or malalignment of joints." [https://orcid.org/0000-0002-0736-9199]
comment: Dislocation is defined as a complete disruption of the joint and subluxation is defined as a partial dislocation followed by relocation.
synonym: "Joint dislocation" EXACT layperson []
synonym: "Joint dislocations" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:108367008
xref: SNOMEDCT_US:87642003
xref: UMLS:C0012691
is_a: HP:0001367 ! Abnormal joint morphology

[Term]
id: HP:0001374
name: Congenital hip dislocation
synonym: "Congenital dislocation of the hip" EXACT []
synonym: "Congenital dislocation of the hips" EXACT []
synonym: "Congenital hip anomaly" EXACT []
synonym: "Congenital hip dislocations" EXACT []
synonym: "Dislocated hip since birth" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:48334007
xref: SNOMEDCT_US:52781008
xref: UMLS:C0019555
is_a: HP:0001385 ! Hip dysplasia
is_a: HP:0002827 ! Hip dislocation

[Term]
id: HP:0001376
name: Limitation of joint mobility
alt_id: HP:0003101
def: "A reduction in the freedom of movement of one or more joints." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased joint mobility" EXACT layperson []
synonym: "Decreased mobility of joints" EXACT layperson []
synonym: "Limitation of joint mobility" EXACT layperson []
synonym: "Limited joint mobility" EXACT layperson []
synonym: "Limited joint motion" EXACT layperson []
xref: UMLS:C1857108
is_a: HP:0011729 ! Abnormality of joint mobility

[Term]
id: HP:0001377
name: Limited elbow extension
alt_id: HP:0005073
def: "Limited ability to straighten the arm at the elbow joint." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Decreased elbow extension" EXACT layperson []
synonym: "Elbow limited extension" EXACT layperson []
synonym: "Limitation of elbow extension" EXACT layperson []
synonym: "Limited elbow extension" EXACT layperson []
synonym: "Limited extension at elbows" EXACT layperson []
synonym: "Limited forearm extension" EXACT layperson []
synonym: "Restricted elbow extension" EXACT layperson []
xref: UMLS:C1867103
is_a: HP:0002996 ! Limited elbow movement

[Term]
id: HP:0001379
name: obsolete Degenerative joint disease
is_obsolete: true
replaced_by: HP:0002758

[Term]
id: HP:0001380
name: obsolete Ligamentous laxity
is_obsolete: true
replaced_by: HP:0001382

[Term]
id: HP:0001382
name: Joint hypermobility
alt_id: HP:0001378
alt_id: HP:0001380
alt_id: HP:0001383
alt_id: HP:0001388
alt_id: HP:0002771
alt_id: HP:0005034
alt_id: HP:0005692
def: "The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes." [https://orcid.org/0000-0002-0736-9199, PMID:28145606]
comment: Synonyms of joint hypermobility (JH) include joint laxity and double-jointedness. In general terms, joint hyperlaxity is often considered a further synonym of JH. JH may be caused by a number of factors including intraarticular disease and injury or slacking of extraarticular structures such as joint capsules, ligaments, and muscles. Establishing whether a joint is hypermobile or not is a relatively easy task and it is carried out by (i) using professional tools, such as the orthopedic goniometer; (ii) following specific procedures; and (iii) comparing the measured range of motion (ROM) with normal parameters. When JH is observed at one or a few types of joints (usually fewer than five) it may be defined as localized joint hypermobility (LJH). Typically, LJH affects a single small or large joint and may be bilateral (e.g., bilateral genu recurvatum due to knee hyperextensibility). LJH may be inherited, but it may be an acquired trait related to, for example, past trauma, joint disease, surgery, or training (e.g., spine hypermobility). In individuals with JH at multiple sites (usually five or more), the term generalized joint hypermobility (GJH) is preferred.
synonym: "Double-Jointed" EXACT layperson []
synonym: "Extensible joints" EXACT []
synonym: "Flexible joints" EXACT layperson []
synonym: "Hyperextensible joints" EXACT []
synonym: "Increased joint mobility" EXACT []
synonym: "Increased mobility of joints" EXACT layperson []
synonym: "Joint hyperextensibility" EXACT []
synonym: "Joint hyperflexibility" EXACT []
synonym: "Joint hyperlaxity" EXACT []
synonym: "Joint instability" RELATED []
synonym: "Joint laxity" EXACT []
synonym: "Joint ligamentous laxity" RELATED []
synonym: "Joints move beyond expected range of motion" EXACT layperson []
synonym: "Lax joints" EXACT layperson []
synonym: "Ligamentous laxity" RELATED []
synonym: "Loose-jointedness" EXACT layperson []
xref: SNOMEDCT_US:298181000
xref: UMLS:C1844820
is_a: HP:0011729 ! Abnormality of joint mobility

[Term]
id: HP:0001384
name: Abnormal hip joint morphology
def: "An abnormality of the hip joint." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the hip joint" EXACT layperson []
synonym: "Abnormality of the hip joints" RELATED layperson []
xref: UMLS:C4020870
is_a: HP:0003272 ! Abnormal hip bone morphology
is_a: HP:0100491 ! Abnormality of lower limb joint

[Term]
id: HP:0001385
name: Hip dysplasia
alt_id: HP:0008787
def: "The presence of developmental dysplasia of the hip." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal formation of the hip" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Congenital hip dysplasia" EXACT []
synonym: "DDH" EXACT abbreviation []
synonym: "Developmental dysplasia of the hip" EXACT []
xref: SNOMEDCT_US:48334007
xref: SNOMEDCT_US:52781008
xref: UMLS:C0019555
is_a: HP:0003272 ! Abnormal hip bone morphology

[Term]
id: HP:0001386
name: Joint swelling
synonym: "Joint swelling" EXACT layperson []
xref: SNOMEDCT_US:271771009
xref: UMLS:C0152031
is_a: HP:0000969 ! Edema
is_a: HP:0001367 ! Abnormal joint morphology

[Term]
id: HP:0001387
name: Joint stiffness
alt_id: HP:0002775
alt_id: HP:0003033
def: "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [https://orcid.org/0000-0002-0736-9199]
synonym: "Joint stiffness" EXACT layperson []
synonym: "Stiff joint" EXACT layperson []
synonym: "Stiff joints" EXACT layperson []
xref: SNOMEDCT_US:84445001
xref: UMLS:C0162298
is_a: HP:0001376 ! Limitation of joint mobility

[Term]
id: HP:0001388
name: obsolete Joint laxity
is_obsolete: true
replaced_by: HP:0001382

[Term]
id: HP:0001392
name: Abnormality of the liver
def: "An abnormality of the liver." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal liver" EXACT layperson []
synonym: "Abnormality of the liver" EXACT layperson []
synonym: "Liver abnormality" EXACT layperson []
synonym: "Liver disease" RELATED layperson []
xref: SNOMEDCT_US:235856003
xref: UMLS:C0023895
xref: UMLS:C4021780
is_a: HP:0002012 ! Abnormality of the abdominal organs

[Term]
id: HP:0001394
name: Cirrhosis
def: "A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function." [https://orcid.org/0000-0002-0736-9199]
comment: Cirrhosis is caused by chronic liver disease as a result of viral infections (hepatitis), alcohol abuse, certain medications, certain metabolic disorders of iron and copper, and many others. Cirrhosis may lead to a number of abnormalities including hepatomegaly, jaundice, abnormal liver function tests, ascites, dilatation of veins in the abdominal wall, anemia, and clotting deficiencies.
synonym: "Hepatic cirrhosis" EXACT []
synonym: "Liver cirrhosis" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Scar tissue replaces healthy tissue in the liver" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:19943007
xref: UMLS:C0023890
is_a: HP:0410042 ! Abnormal liver morphology

[Term]
id: HP:0001395
name: Hepatic fibrosis
def: "The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process." [https://orcid.org/0000-0002-0736-9199]
synonym: "Liver fibrosis" EXACT []
xref: SNOMEDCT_US:62484002
xref: UMLS:C0239946
is_a: HP:0410042 ! Abnormal liver morphology

[Term]
id: HP:0001396
name: Cholestasis
def: "Impairment of bile flow due to obstruction in bile ducts." [https://orcid.org/0000-0002-0736-9199]
synonym: "Slowed or blocked flow of bile from liver" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:197446008
xref: SNOMEDCT_US:30144000
xref: SNOMEDCT_US:33688009
xref: UMLS:C0008370
is_a: HP:0004297 ! Abnormality of the biliary system

[Term]
id: HP:0001397
name: Hepatic steatosis
alt_id: HP:0002252
alt_id: HP:0200121
def: "Steatosis is a term used to denote lipid accumulation within hepatocytes." [https://orcid.org/0000-0002-0736-9199, PMID:31603713]
comment: Although steatosis is the hallmark of the fatty liver disease, it is not a specific feature because it can be seen as part of other disease processes, such as drug injury, Wilson disease, or hepatitis C virus infection (especially genotype-3). Involvement of less than 5% of the hepatocytes by steatosis is considered clinically insignificant and within reference range. Based on the morphologic appearance and the size of the lipid droplets within the cytoplasm of the hepatocytes, steatosis is characterized as macrovesicular or microvesicular. Macrovesicular steatosis is characterized by large lipid droplets occupying the cytoplasm, displacing the nucleus to the periphery (large droplet macrovesicular steatosis) or multiple small lipid droplets of variable size occupying the cytoplasm with the nucleus maintaining its central location (small droplet macrovesicular steatosis). Microvesicular steatosis is characterized by innumerable tiny, relatively uniform lipid vacuoles that result in a bubbly appearance of the hepatocytes.
synonym: "Fatty infiltration of liver" EXACT layperson []
synonym: "Fatty liver" EXACT layperson []
synonym: "Liver steatosis" EXACT []
synonym: "Steatosis" EXACT []
xref: SNOMEDCT_US:197321007
xref: SNOMEDCT_US:442191002
xref: UMLS:C2711227
is_a: HP:0006561 ! Lipid accumulation in hepatocytes

[Term]
id: HP:0001399
name: Hepatic failure
synonym: "Hepatic insufficiency" EXACT []
synonym: "Liver failure" EXACT layperson []
xref: SNOMEDCT_US:59927004
xref: UMLS:C0085605
is_a: HP:0001410 ! Decreased liver function

[Term]
id: HP:0001400
name: obsolete Hepatic abscesses due to immunodeficiency
is_obsolete: true
replaced_by: HP:0100523

[Term]
id: HP:0001401
name: Intrahepatic biliary dysgenesis
xref: UMLS:C1859235
is_a: HP:0011040 ! Abnormal intrahepatic bile duct morphology

[Term]
id: HP:0001402
name: Hepatocellular carcinoma
alt_id: HP:0002899
alt_id: HP:0003007
alt_id: HP:0006750
def: "A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver." [https://orcid.org/0000-0002-0736-9199]
comment: Hepatocellular carcinoma may be associated with hepatitis B virus infection and cirrhosis or alcoholic cirrhosis.
synonym: "Increased hepatocellular carcinoma risk" RELATED []
synonym: "Increased incidence of hepatocellular carcinoma" RELATED []
xref: NCIT:C3099
xref: SNOMEDCT_US:109841003
xref: SNOMEDCT_US:187769009
xref: SNOMEDCT_US:25370001
xref: UMLS:C1862761
xref: UMLS:C1867955
xref: UMLS:C2239176
is_a: HP:0002896 ! Neoplasm of the liver

[Term]
id: HP:0001403
name: Macrovesicular hepatic steatosis
def: "A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Macrovesicular steatosis" EXACT []
xref: UMLS:C1837256
is_a: HP:0001397 ! Hepatic steatosis

[Term]
id: HP:0001404
name: Hepatocellular necrosis
synonym: "Death of liver cells" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Hepatocellular loss" EXACT []
xref: UMLS:C1855038
is_a: HP:0002605 ! Hepatic necrosis

[Term]
id: HP:0001405
name: Periportal fibrosis
def: "The presence of fibrosis affecting the interlobular stroma of liver." [https://orcid.org/0000-0002-0736-9199]
comment: Liver fibrosis is not only the result of necrosis, collapse and scar formation but also the result of derangements in the synthesis and degradation of matrix by injured mesenchymal cells.
xref: UMLS:C1849766
is_a: HP:0001395 ! Hepatic fibrosis

[Term]
id: HP:0001406
name: Intrahepatic cholestasis
def: "Impairment of bile flow due to obstruction in the small bile ducts within the liver." [https://orcid.org/0000-0002-0736-9199]
synonym: "Impaired release of bile from liver" BROAD layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:4637005
xref: UMLS:C0008372
is_a: HP:0001396 ! Cholestasis
is_a: HP:0031865 ! Abnormal liver physiology

[Term]
id: HP:0001407
name: Hepatic cysts
synonym: "Liver cysts" EXACT layperson []
xref: SNOMEDCT_US:85057007
xref: UMLS:C0267834
is_a: HP:0006706 ! Cystic liver disease

[Term]
id: HP:0001408
name: Bile duct proliferation
def: "Proliferative changes of the bile ducts." [https://orcid.org/0000-0002-0736-9199]
synonym: "Proliferation of bile canaliculi" EXACT []
xref: SNOMEDCT_US:20239009
xref: UMLS:C0267818
is_a: HP:0012440 ! Abnormal biliary tract morphology

[Term]
id: HP:0001409
name: Portal hypertension
def: "Increased pressure in the portal vein." [https://orcid.org/0000-0002-0736-9199]
comment: Portal hypertension is defined as portal vein pressures exceeding 5 mm Hg or portal vein to hepatic vein gradient of greater than 10 mm Hg.
xref: SNOMEDCT_US:34742003
xref: UMLS:C0020541
is_a: HP:0006707 ! Abnormality of the hepatic vasculature
is_a: HP:0032263 ! Increased blood pressure

[Term]
id: HP:0001410
name: Decreased liver function
alt_id: HP:0004393
alt_id: HP:0005228
alt_id: HP:0006570
def: "Reduced ability of the liver to perform its functions." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased liver function" EXACT layperson []
synonym: "Hepatopathy" RELATED []
synonym: "Liver dysfunction" EXACT layperson []
synonym: "Liver dysfunction, mild" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:75183008
xref: SNOMEDCT_US:77981007
xref: UMLS:C0086565
xref: UMLS:C0232744
xref: UMLS:C3279149
is_a: HP:0025155 ! Abnormal hepatobiliary system physiology

[Term]
id: HP:0001412
name: Enteroviral hepatitis
def: "Inflammation of the liver due to infection with enterovirus." [PMID:15056237]
xref: UMLS:C1843995
is_a: HP:0006562 ! Viral hepatitis

[Term]
id: HP:0001413
name: Micronodular cirrhosis
def: "A type of cirrhosis characterized by the presence of small regenerative nodules." [https://orcid.org/0000-0002-0736-9199]
comment: In micronodular cirrhosis (Laennec's cirrhosis or portal cirrhosis) regenerating nodules are under 3 mm. This finding can be demonstrated by liver biopsy.
xref: SNOMEDCT_US:21861000
xref: UMLS:C0267812
is_a: HP:0001394 ! Cirrhosis

[Term]
id: HP:0001414
name: Microvesicular hepatic steatosis
def: "A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes." [https://orcid.org/0000-0002-0736-9199]
comment: This finding can be demonstrated by liver biopsy.
synonym: "Microvesicular steatosis" EXACT []
xref: UMLS:C1850415
is_a: HP:0001397 ! Hepatic steatosis

[Term]
id: HP:0001417
name: X-linked inheritance
alt_id: HP:0001418
def: "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [https://orcid.org/0000-0002-0736-9199]
synonym: "monoallelic_X_hemizygous" EXACT []
synonym: "X-linked" EXACT []
synonym: "X-linked form" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:263934009
xref: UMLS:C0241764
is_a: HP:0034345 ! Mendelian inheritance

[Term]
id: HP:0001419
name: X-linked recessive inheritance
def: "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [https://orcid.org/0000-0002-0736-9199]
synonym: "X-linked recessive" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1845977
is_a: HP:0001417 ! X-linked inheritance

[Term]
id: HP:0001421
name: Abnormality of the musculature of the hand
synonym: "Abnormal hand muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025786
is_a: HP:0001155 ! Abnormality of the hand
is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-07T10:59:00Z

[Term]
id: HP:0001423
name: X-linked dominant inheritance
def: "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [https://orcid.org/0000-0002-0736-9199]
synonym: "X-linked dominant" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1847879
is_a: HP:0001417 ! X-linked inheritance

[Term]
id: HP:0001425
name: obsolete Heterogeneous
synonym: "Genetic heterogeneity" EXACT []
is_obsolete: true
replaced_by: HP:0000005

[Term]
id: HP:0001426
name: Non-Mendelian inheritance
alt_id: HP:0001429
alt_id: HP:0001472
def: "A mode of inheritance that depends on genetic determinants in more than one gene." [https://orcid.org/0000-0002-0736-9199]
comment: The observed inheritance for a multifactorial genetic trait or disorder may have a higher frequency within the same family, whether the etiology is genetic or environmental, or a combination of the two.
synonym: "Familial predisposition" RELATED []
xref: UMLS:C0600599
is_a: HP:0000005 ! Mode of inheritance

[Term]
id: HP:0001427
name: Mitochondrial inheritance
alt_id: HP:0001431
alt_id: HP:0001458
alt_id: HP:0001506
def: "A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Mitochondrial" EXACT []
synonym: "mitochondrial" EXACT HP:0034334 []
xref: UMLS:C0887941
is_a: HP:0034345 ! Mendelian inheritance

[Term]
id: HP:0001428
name: obsolete Somatic mutation
is_obsolete: true
replaced_by: HP:0001442

[Term]
id: HP:0001430
name: Abnormal calf musculature morphology
alt_id: HP:0004300
synonym: "Abnormal calf muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of calf musculature" EXACT []
xref: UMLS:C4021779
is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-07T10:18:00Z

[Term]
id: HP:0001433
name: Hepatosplenomegaly
def: "Simultaneous enlargement of the liver and spleen." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlarged liver and spleen" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:36760000
xref: UMLS:C0019214
is_a: HP:0001744 ! Splenomegaly
is_a: HP:0002240 ! Hepatomegaly
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-20T10:51:00Z

[Term]
id: HP:0001435
name: Abnormality of the shoulder girdle musculature
alt_id: HP:0004301
synonym: "Abnormality of shoulder musculature" EXACT layperson []
xref: UMLS:C4021778
is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-07T10:19:00Z

[Term]
id: HP:0001436
name: Abnormality of the foot musculature
def: "An anomaly of the musculature of foot." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal foot muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025785
is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-07T10:21:00Z

[Term]
id: HP:0001437
name: Abnormality of the musculature of the lower limbs
xref: UMLS:C4025784
is_a: HP:0002814 ! Abnormality of the lower limb
is_a: HP:0009127 ! Abnormality of the musculature of the limbs
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-07T10:21:00Z

[Term]
id: HP:0001438
name: Abnormal abdomen morphology
def: "A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abdomen abnormality" RELATED layperson []
synonym: "Abnormality of abdomen morphology" EXACT []
synonym: "Abnormality of abdomen structure" EXACT layperson []
synonym: "Abnormality of the abdomen" EXACT []
xref: UMLS:C4020869
is_a: HP:0025031 ! Abnormality of the digestive system

[Term]
id: HP:0001440
name: Metatarsal synostosis
alt_id: HP:0004705
alt_id: HP:0008098
synonym: "Fusion of metatarsals" EXACT []
synonym: "Fusion of the long bones of the feet" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Synostosis involving metatarsal bones" EXACT []
xref: UMLS:C1862697
is_a: HP:0001832 ! Abnormal metatarsal morphology
is_a: HP:0009140 ! Synostosis involving bones of the feet
is_a: HP:0100265 ! Synostosis of metacarpals/metatarsals
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-17T02:36:00Z

[Term]
id: HP:0001441
name: Abnormality thigh musculature morphology
synonym: "Abnormal thigh muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the musculature of the thigh" EXACT []
xref: UMLS:C4025783
is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-07T10:27:00Z

[Term]
id: HP:0001442
name: Typified by somatic mosaicism
alt_id: HP:0001428
alt_id: HP:0001444
def: "Description of conditions in which affected individuals typically display somatic mosaicism, i.e., genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. In many conditions typified by somatic mosaicism, constitutive mutation is lethal and cases are exclusively or predominantly mosaic." [https://orcid.org/0000-0002-0736-9199, PMID:12360233]
comment: A much lower variant allele fraction (VAF) cutoff would be needed in genomic analysis pipelines as compared with the threshold required for constitutional variants.
synonym: "Autosomal dominant somatic cell mutation" EXACT []
synonym: "Somatic mosaicism" EXACT []
synonym: "Somatic mutation" EXACT []
xref: UMLS:C1866227
is_a: HP:0034335 ! Inheritance qualifier

[Term]
id: HP:0001443
name: Abnormality of the gluteal musculature
synonym: "Abnormality of glutes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025782
is_a: HP:0001469 ! Abnormal morphology of the pelvis musculature
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-07T10:31:00Z

[Term]
id: HP:0001444
name: obsolete Autosomal dominant somatic cell mutation
is_obsolete: true
replaced_by: HP:0001442

[Term]
id: HP:0001445
name: Abnormality of the hip-girdle musculature
xref: UMLS:C4025780
is_a: HP:0001469 ! Abnormal morphology of the pelvis musculature
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-07T10:31:00Z

[Term]
id: HP:0001446
name: Abnormality of the musculature of the upper limbs
synonym: "Abnormal upper limb muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025779
is_a: HP:0002817 ! Abnormality of the upper limb
is_a: HP:0009127 ! Abnormality of the musculature of the limbs
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-07T10:40:00Z

[Term]
id: HP:0001449
name: Duplication of metatarsal bones
synonym: "Duplication of long bones of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025778
is_a: HP:0001832 ! Abnormal metatarsal morphology
is_a: HP:0009136 ! Duplication involving bones of the feet
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-17T02:37:00Z

[Term]
id: HP:0001450
name: Y-linked inheritance
def: "A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome." [https://orcid.org/0000-0002-0736-9199]
synonym: "monoallelic_Y_hemizygous" EXACT HP:0034334 []
synonym: "Y-linked" EXACT []
xref: UMLS:C0814045
is_a: HP:0034345 ! Mendelian inheritance

[Term]
id: HP:0001452
name: obsolete Autosomal dominant contiguous gene syndrome
is_obsolete: true
replaced_by: HP:0000006

[Term]
id: HP:0001454
name: Abnormality of the upper arm
xref: UMLS:C4025776
is_a: HP:0002817 ! Abnormality of the upper limb
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-07T10:41:00Z

[Term]
id: HP:0001457
name: Abnormality of the musculature of the upper arm
xref: UMLS:C4025775
is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs
is_a: HP:0001454 ! Abnormality of the upper arm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-07T10:42:00Z

[Term]
id: HP:0001459
name: 1-3 toe syndactyly
def: "Syndactyly with fusion of toes one to three." [https://orcid.org/0009-0006-4530-3154]
synonym: "Webbed 1st-3rd toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025774
is_a: HP:0001770 ! Toe syndactyly

[Term]
id: HP:0001460
name: Aplasia/Hypoplasia involving the skeletal musculature
def: "Absence or underdevelopment of the musculature." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small skeletal muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped skeletal muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025773
is_a: HP:0030236 ! Abnormality of muscle size
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-07T10:46:00Z

[Term]
id: HP:0001464
name: Aplasia/Hypoplasia involving the shoulder musculature
def: "Absence or underdevelopment of the muscles of the shoulder." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small shoulder muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped shoulder muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025772
is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature
is_a: HP:0001467 ! Aplasia/Hypoplasia involving the musculature of the upper limbs
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-07T10:49:00Z

[Term]
id: HP:0001465
name: Amyotrophy involving the shoulder musculature
synonym: "Shoulder muscle degeneration" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Wasting of shoulder muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025771
is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-07T10:50:00Z

[Term]
id: HP:0001466
name: Contiguous gene syndrome
def: "A syndrome caused by the effects of abnormality (typically a deletion or duplication) of 2 or more adjacent genes" []
comment: Examples of contiguous gene synmdromes include Prader-Willi syndrome, Angelman syndrome, and Williams syndrome.
xref: UMLS:C1855496
is_a: HP:0034335 ! Inheritance qualifier

[Term]
id: HP:0001467
name: Aplasia/Hypoplasia involving the musculature of the upper limbs
def: "Absence or underdevelopment of the musculature of the upper limbs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small upper limb muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped upper limb muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025770
is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs
is_a: HP:0009128 ! Aplasia/Hypoplasia involving the musculature of the extremities
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-07T10:51:00Z

[Term]
id: HP:0001468
name: Aplasia/Hypoplasia involving the musculature of the upper arm
def: "Absence or underdevelopment of the muscles of the upper arm." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small upper arm muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped upper arm muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025769
is_a: HP:0001457 ! Abnormality of the musculature of the upper arm
is_a: HP:0001467 ! Aplasia/Hypoplasia involving the musculature of the upper limbs
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-07T10:52:00Z

[Term]
id: HP:0001469
name: Abnormal morphology of the pelvis musculature
synonym: "Abnormality of the musculature of the pelvis" EXACT []
xref: UMLS:C4025768
is_a: HP:0011805 ! Abnormal skeletal muscle morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-07T10:55:00Z

[Term]
id: HP:0001470
name: Sex-limited expression
def: "Sex limitation is used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in one sex." []
xref: UMLS:C4025767
is_a: HP:0034335 ! Inheritance qualifier

[Term]
id: HP:0001471
name: Aplasia/Hypoplasia of the musculature of the pelvis
synonym: "Absent/small pelvis muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped pelvis muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025766
is_a: HP:0001469 ! Abnormal morphology of the pelvis musculature
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-07T10:56:00Z

[Term]
id: HP:0001472
name: obsolete Familial predisposition
is_obsolete: true
replaced_by: HP:0001426

[Term]
id: HP:0001473
name: Metatarsal osteolysis
alt_id: HP:0001866
def: "Osteolysis involving metatarsal bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Osteolysis involving metatarsal bones" EXACT []
xref: UMLS:C1854614
is_a: HP:0001832 ! Abnormal metatarsal morphology
is_a: HP:0009134 ! Osteolysis involving bones of the feet
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-17T02:38:00Z

[Term]
id: HP:0001474
name: Sclerotic scapulae
def: "Increased density of the bony tissue of the scapula." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
xref: UMLS:C1849263
is_a: HP:0000782 ! Abnormal scapula morphology
is_a: HP:0011001 ! Increased bone mineral density

[Term]
id: HP:0001475
name: Male-limited expression
def: "Used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in the male sex." []
xref: UMLS:C4025764
is_a: HP:0001470 ! Sex-limited expression

[Term]
id: HP:0001476
name: Delayed closure of the anterior fontanelle
def: "A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life." [https://orcid.org/0000-0002-0736-9199]
synonym: "Delayed closure anterior fontanel" EXACT []
synonym: "Delayed closure of anterior fontanelle" EXACT []
synonym: "Delayed closure of the bregma sutures" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Delayed closure of the soft spot on the skull" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Late closure of anterior fontanelle" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Late closure of large anterior fontanel" EXACT []
synonym: "Late closure of soft spot on the skull" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Late closure of the bregma sutures" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Later than typical closing of soft spot of skull" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Persistent anterior fontanelle" EXACT []
xref: SNOMEDCT_US:295091000119100
xref: UMLS:C3840083
xref: UMLS:C4072831
is_a: HP:0000236 ! Abnormal anterior fontanelle morphology
is_a: HP:0000270 ! Delayed cranial suture closure

[Term]
id: HP:0001477
name: Compensatory chin elevation
def: "A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement." [https://orcid.org/0000-0002-0736-9199]
synonym: "Compensatory head tilt/chin elevation" EXACT []
xref: UMLS:C1846911
is_a: HP:0031705 ! Compensatory head posture

[Term]
id: HP:0001480
name: Freckling
def: "The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin." []
synonym: "Freckling" EXACT layperson []
xref: SNOMEDCT_US:403536009
xref: SNOMEDCT_US:699225003
xref: UMLS:C0016689
is_a: HP:0001000 ! Abnormality of skin pigmentation

[Term]
id: HP:0001482
name: Subcutaneous nodule
alt_id: HP:0005903
def: "Slightly elevated lesions on or in the skin with a diameter of over 5 mm." [https://orcid.org/0000-0002-0736-9199]
comment: Subcutaneous nodules may move freely within the dermis or may be fixed to skin above or subcutaneous tissue below.
subset: hposlim_core
synonym: "Firm lump under the skin" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Growth of abnormal tissue under the skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Multiple, subcutaneous nodules" RELATED []
synonym: "Nodule below the skin" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Subcutaneous nodules" RELATED plural_form []
xref: SNOMEDCT_US:95325000
xref: UMLS:C0151811
xref: UMLS:C0746926
is_a: HP:0200036 ! Skin nodule

[Term]
id: HP:0001483
name: Eye poking
def: "Repetitive pressing, poking, and/or rubbing in the eyes." [PMID:8157154]
comment: Eye poking is usually observed in children with an intellectual and visual handicap.
synonym: "Blindism" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Eye pressing" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Ocular auto-stimulation" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Oculodigital phenomenon" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
xref: SNOMEDCT_US:78894008
xref: UMLS:C0233593
is_a: HP:0100716 ! Self-injurious behavior
is_a: HP:5200017 ! Stereotypic movements of face and head
is_a: HP:5200065 ! Tactile sensory seeking
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-0736-9199
property_value: terms:contributor https://orcid.org/0000-0002-4142-7153
property_value: terms:contributor https://orcid.org/0000-0002-4422-1708
property_value: terms:contributor https://orcid.org/0000-0003-3777-1389

[Term]
id: HP:0001487
name: obsolete Hypopigmented fundi
is_obsolete: true
replaced_by: HP:0007894

[Term]
id: HP:0001488
name: Bilateral ptosis
synonym: "Drooping of both upper eyelids" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1865916
is_a: HP:0000508 ! Ptosis

[Term]
id: HP:0001489
name: Posterior vitreous detachment
def: "Separation of the vitreous humor from the retina." [https://orcid.org/0000-0002-0736-9199, PMID:24376338]
comment: The vitreous humor is a transparent and colorless gel located between the retina and the lens. In posterior vitreous detachment (PVD), the vitreous membrane (which surrounds the vitreous humor) separates from the retina. This condition is common in individuals over 65 years of age but may occur in younger persons. PVD is often characterized by flashes of light and floaters, and may be complicated by retinal detachment.
synonym: "Vitreous detachment" EXACT []
xref: SNOMEDCT_US:247081001
xref: UMLS:C0423361
is_a: HP:0004327 ! Abnormal vitreous humor morphology

[Term]
id: HP:0001491
name: Congenital fibrosis of extraocular muscles
def: "Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "CFEOM" EXACT abbreviation [https://orcid.org/0000-0002-5316-1399]
synonym: "Congenital fibrosis of the extraocular muscles" EXACT []
synonym: "Congenital ophthalmoplegia" EXACT [http://www.omim.org/entry/135700, https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:400946004
xref: UMLS:C1302995
is_a: HP:0008049 ! Abnormality of the extraocular muscles

[Term]
id: HP:0001492
name: Axenfeld anomaly
def: "Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
xref: SNOMEDCT_US:204152008
xref: UMLS:C0266548
is_a: HP:0007700 ! Ocular anterior segment dysgenesis

[Term]
id: HP:0001493
name: Falciform retinal fold
alt_id: HP:0008013
def: "An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset." [https://orcid.org/0000-0002-0736-9199]
synonym: "Congenital retinal fold" EXACT []
xref: SNOMEDCT_US:204181009
xref: UMLS:C0344550
is_a: HP:0008052 ! Retinal fold

[Term]
id: HP:0001495
name: Carpal osteolysis
def: "Osteolysis affecting carpal bones." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Carpal bone osteolysis" EXACT []
xref: UMLS:C1833734
is_a: HP:0001191 ! Abnormal carpal morphology
is_a: HP:0045039 ! Osteolysis involving bones of the upper limbs

[Term]
id: HP:0001498
name: Carpal bone hypoplasia
alt_id: HP:0001209
alt_id: HP:0006029
alt_id: HP:0006072
alt_id: HP:0006117
alt_id: HP:0006130
alt_id: HP:0006227
def: "Underdevelopment of one or more carpal bones." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Hypoplasia of carpal bones" EXACT []
synonym: "Hypoplastic carpal bones" EXACT []
synonym: "Small carpal bones" EXACT layperson []
synonym: "Small carpals" EXACT layperson []
synonym: "Small wrist bones" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1863749
xref: UMLS:C4280594
is_a: HP:0006502 ! Aplasia/Hypoplasia involving the carpal bones

[Term]
id: HP:0001500
name: Broad finger
alt_id: HP:0001497
def: "Increased width of a non-thumb digit of the hand." [PMID:19125433]
comment: Note that the girth may be increased in a broad finger, but this must be distinguished from Macrodactyly, because there the length is also increased. This distinction can be subtle. This term should not be used when the increased width is limited to the distal phalanges, instead use Broad fingertips. The affected digit should be specified by the numbering scheme in the introduction. This term is not used for the first digit, see Broad thumbs. When a thumb and one or more fingers are affected, it may be more economical to specify "Broad fingers, F1-5" instead of separately specifying "Broad thumb" and "Broad fingers F2-5".
subset: hposlim_core
synonym: "Broad finger" EXACT layperson []
synonym: "Broad fingers" EXACT layperson []
synonym: "Wide fingers" EXACT layperson []
xref: UMLS:C1844906
is_a: HP:0001167 ! Abnormal finger morphology

[Term]
id: HP:0001501
name: 6 metacarpals
synonym: "6 long bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1861360
is_a: HP:0005917 ! Supernumerary metacarpal bones

[Term]
id: HP:0001504
name: Metacarpal osteolysis
synonym: "Metacarpals osteolysis" EXACT []
xref: UMLS:C1854610
is_a: HP:0005916 ! Abnormal metacarpal morphology
is_a: HP:0045039 ! Osteolysis involving bones of the upper limbs

[Term]
id: HP:0001507
name: Growth abnormality
alt_id: HP:0008904
synonym: "Abnormal growth" EXACT layperson []
synonym: "Growth abnormality" EXACT layperson []
synonym: "Growth issue" EXACT layperson []
xref: UMLS:C0262361
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0001508
name: Failure to thrive
alt_id: HP:0001535
alt_id: HP:0008853
alt_id: HP:0008878
alt_id: HP:0008916
def: "Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm." [https://orcid.org/0000-0002-0736-9199]
comment: Although there is no clear consensus on the exact definition of FTT, it is usually diagnoses in a child growing below the 3rd percentile or in a child whose decreased growth has cross two major growth percentiles (for example, from above the 75th percentile to below the 25th percentile).
synonym: "Faltering weight" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "FTT" EXACT abbreviation []
synonym: "Poor weight gain" RELATED layperson []
synonym: "Postnatal failure to thrive" EXACT []
synonym: "Undergrowth" BROAD layperson []
synonym: "Weight faltering" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:36440009
xref: SNOMEDCT_US:432788009
xref: UMLS:C0231246
xref: UMLS:C2315100
is_a: HP:0004325 ! Decreased body weight

[Term]
id: HP:0001510
name: Growth delay
alt_id: HP:0001434
alt_id: HP:0001512
alt_id: HP:0001514
alt_id: HP:0001517
alt_id: HP:0001532
alt_id: HP:0008847
alt_id: HP:0008870
alt_id: HP:0008886
alt_id: HP:0008893
alt_id: HP:0008926
def: "A deficiency or slowing down of growth pre- and postnatally." [https://orcid.org/0000-0002-0736-9199]
comment: Poor or abnormally slow gains in weight or height in a child.
synonym: "Delayed growth" EXACT layperson []
synonym: "Growth deficiency" EXACT layperson []
synonym: "Growth delay" EXACT layperson []
synonym: "Growth failure" EXACT layperson []
synonym: "Growth retardation" EXACT layperson []
synonym: "Poor growth" EXACT layperson []
synonym: "Retarded growth" EXACT layperson []
synonym: "Very poor growth" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:276617005
xref: SNOMEDCT_US:444896005
xref: SNOMEDCT_US:59576002
xref: UMLS:C0151686
xref: UMLS:C0456070
xref: UMLS:C0878787
xref: UMLS:C1837385
xref: UMLS:C3552463
is_a: HP:0001507 ! Growth abnormality

[Term]
id: HP:0001511
name: Intrauterine growth retardation
alt_id: HP:0001515
alt_id: HP:0008862
alt_id: HP:0008892
alt_id: HP:0008931
def: "An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age." [https://orcid.org/0000-0002-0736-9199]
comment: Intrauterine growth restriction is a newer term that is preferred over Intrauterine growth retardation. The causes of IUGR include maternal abnormalities (chronic hypertension, cyanotic heart disease, smoking, drug abuse), placental or umbilical cord abnormalities (including placenta previa and cord anomalies), maternal medicationas, and genetic disorders of the fetus.
synonym: "Fetal growth restriction" EXACT []
synonym: "FGR" EXACT abbreviation []
synonym: "In utero growth retardation" EXACT []
synonym: "Intrauterine growth failure" EXACT []
synonym: "Intrauterine growth restriction" EXACT []
synonym: "Intrauterine growth retardation, IUGR" EXACT []
synonym: "Intrauterine retardation" EXACT []
synonym: "IUGR" EXACT abbreviation [https://orcid.org/0000-0002-5316-1399]
synonym: "Prenatal growth deficiency" EXACT layperson []
synonym: "Prenatal growth failure" EXACT []
synonym: "Prenatal growth retardation" EXACT layperson []
synonym: "Prenatal onset growth retardation" EXACT []
synonym: "Prenatal-onset growth retardation" EXACT []
synonym: "Small for gestational age infant" EXACT []
xref: SNOMEDCT_US:199612005
xref: SNOMEDCT_US:22033007
xref: UMLS:C0015934
xref: UMLS:C0021296
xref: UMLS:C1386048
is_a: HP:0001510 ! Growth delay

[Term]
id: HP:0001513
name: Obesity
def: "Accumulation of substantial excess body fat." []
synonym: "Having too much body fat" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Obesity" EXACT layperson []
xref: SNOMEDCT_US:414915002
xref: SNOMEDCT_US:414916001
xref: UMLS:C0028754
is_a: HP:0004324 ! Increased body weight

[Term]
id: HP:0001518
name: Small for gestational age
alt_id: HP:0001422
alt_id: HP:0008849
alt_id: HP:0008919
alt_id: HP:0008927
def: "Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age." [https://orcid.org/0000-0002-6410-0882]
synonym: "Birth weight less than 10th percentile" EXACT layperson []
synonym: "Low birth weight" EXACT layperson []
synonym: "Small for gestational age" EXACT layperson []
xref: SNOMEDCT_US:267258002
xref: SNOMEDCT_US:276610007
xref: UMLS:C0024032
xref: UMLS:C0235991
is_a: HP:0004325 ! Decreased body weight

[Term]
id: HP:0001519
name: Disproportionate tall stature
alt_id: HP:0003511
alt_id: HP:0008864
def: "A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-6410-0882]
synonym: "Dolichostenomelia" EXACT []
synonym: "Marfanoid body habitus" EXACT []
synonym: "Marfanoid habitus" EXACT []
synonym: "Reduced upper-lower segment ratio" EXACT []
xref: SNOMEDCT_US:62250003
xref: UMLS:C0003706
xref: UMLS:C1836996
is_a: HP:0000098 ! Tall stature

[Term]
id: HP:0001520
name: Large for gestational age
alt_id: HP:0001825
def: "The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age." [eMedicine:262679, https://orcid.org/0000-0002-0736-9199]
comment: Fetal macrosomia has been defined in several different ways, including birth weight of 4000-4500 g (8 lb 13 oz to 9 lb 15 oz) or greater than 90% for gestational age after correcting for neonatal sex and ethnicity. Based on these definitions, macrosomia affects 1-10% of all pregnancies. A diagnosis of fetal macrosomia can be made only by measuring birth weight after delivery; therefore, the condition is confirmed only retrospectively, ie, after delivery of the neonate.
synonym: "Birth weight > 90th percentile" EXACT layperson []
synonym: "Birthweight > 90th percentile" EXACT layperson []
synonym: "Fetal macrosomia" EXACT []
synonym: "Foetal macrosomia" EXACT uk_spelling []
synonym: "Macrosomia" EXACT []
synonym: "Macrosomia, neonatal" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1848395
is_a: HP:0004324 ! Increased body weight

[Term]
id: HP:0001522
name: Death in infancy
alt_id: HP:0003816
alt_id: HP:0003817
alt_id: HP:0003818
alt_id: HP:0003823
alt_id: HP:0003827
def: "Death within the first 24 months of life." [https://orcid.org/0000-0002-0736-9199]
synonym: "Death in early childhood" RELATED layperson []
synonym: "Death in infancy" EXACT layperson []
synonym: "Infantile death" EXACT layperson []
synonym: "Lethal in infancy" EXACT layperson []
xref: UMLS:C1844947
xref: UMLS:C1858430
is_a: HP:0011420 ! Age of death

[Term]
id: HP:0001525
name: Severe failure to thrive
alt_id: HP:0008876
synonym: "Marked failure to thrive" EXACT []
synonym: "Severe faltering weight" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Severe postnatal failure to thrive" EXACT []
synonym: "Severe weight faltering" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1855514
is_a: HP:0001508 ! Failure to thrive

[Term]
id: HP:0001528
name: Hemihypertrophy
alt_id: HP:0006416
def: "Overgrowth of only one side of the body." [https://orcid.org/0000-0002-0736-9199]
synonym: "Asymmetric limb hypertrophy" EXACT []
synonym: "Asymmetric overgrowth" EXACT layperson []
xref: SNOMEDCT_US:205838004
xref: SNOMEDCT_US:56007004
xref: UMLS:C0332890
is_a: HP:0040064 ! Abnormality of limbs
is_a: HP:0100555 ! Asymmetric growth

[Term]
id: HP:0001530
name: Mild postnatal growth retardation
alt_id: HP:0008860
alt_id: HP:0008917
def: "A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms." [https://orcid.org/0000-0002-6410-0882]
synonym: "Mild growth deficiency" RELATED layperson []
synonym: "Postnatal onset of mild growth retardation" EXACT []
xref: UMLS:C1835580
xref: UMLS:C3550204
is_a: HP:0008897 ! Postnatal growth retardation

[Term]
id: HP:0001531
name: Failure to thrive in infancy
alt_id: HP:0008863
alt_id: HP:0008925
synonym: "Failure to thrive in first year of life" EXACT []
synonym: "Faltering weight in infancy" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Weight faltering in infancy" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1867873
is_a: HP:0001508 ! Failure to thrive

[Term]
id: HP:0001533
name: Slender build
alt_id: HP:0001529
def: "Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones." [https://orcid.org/0000-0002-0736-9199]
comment: Slender, long-limbed habitus.
synonym: "Asthenic habitus" EXACT []
synonym: "Slender build" EXACT layperson []
synonym: "Thin body habitus" EXACT []
synonym: "Thin build" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1850573
is_a: HP:0000098 ! Tall stature
is_a: HP:0004325 ! Decreased body weight

[Term]
id: HP:0001537
name: Umbilical hernia
def: "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Umbilical hernias" EXACT []
xref: Fyler:4445
xref: SNOMEDCT_US:396347007
xref: UMLS:C0019322
is_a: HP:0001551 ! Abnormal umbilicus morphology
is_a: HP:0004299 ! Hernia of the abdominal wall

[Term]
id: HP:0001538
name: Protuberant abdomen
def: "A thrusting or bulging out of the abdomen." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abdominal protuberance" EXACT []
synonym: "Belly sticks out" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Extended belly" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1854928
is_a: HP:0003270 ! Abdominal distention

[Term]
id: HP:0001539
name: Omphalocele
def: "A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Exomphalos" EXACT []
synonym: "Omphalocoele" EXACT []
xref: Fyler:4404
xref: MEDDRA:10030309 "Omphalocoele"
xref: SNOMEDCT_US:18735004
xref: UMLS:C0795690
is_a: HP:0004299 ! Hernia of the abdominal wall

[Term]
id: HP:0001540
name: Diastasis recti
def: "A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba)." [https://orcid.org/0000-0002-0736-9199]
comment: Diastasis recti looks like a ridge, which runs down the middle of the abdomen and increases with muscle straining. Diastasis recti is not uncommon in pregnant women and is common and normal in newborns.
subset: hposlim_core
synonym: "Gap between large left and right abdominal muscles" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:62629000
xref: UMLS:C0221766
is_a: HP:0010991 ! Abnormal morphology of the abdominal musculature

[Term]
id: HP:0001541
name: Ascites
alt_id: HP:0030995
def: "Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen)." [https://orcid.org/0000-0002-0736-9199]
comment: Ascites is commonly associated with liver disease that has resulted in portal hypertension and low serum albumin levels.
subset: hposlim_core
synonym: "Accumulation of fluid in the abdomen" EXACT layperson []
synonym: "Peritoneal effusion" EXACT []
xref: SNOMEDCT_US:389026000
xref: UMLS:C0003962
is_a: HP:0001438 ! Abnormal abdomen morphology

[Term]
id: HP:0001543
name: Gastroschisis
def: "A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
xref: MEDDRA:10018046 "Gastroschisis"
xref: SNOMEDCT_US:72951007
xref: UMLS:C0265706
is_a: HP:0010866 ! Abdominal wall defect

[Term]
id: HP:0001544
name: Prominent umbilicus
def: "Abnormally prominent umbilicus (belly button)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Prominent belly button" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Prominent navel" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1837795
is_a: HP:0001551 ! Abnormal umbilicus morphology

[Term]
id: HP:0001545
name: Anteriorly placed anus
def: "Anterior malposition of the anus." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Anteriorly displaced anus" EXACT []
synonym: "Anus anteposition" EXACT []
xref: UMLS:C1838705
is_a: HP:0004397 ! Ectopic anus

[Term]
id: HP:0001547
name: Abnormal rib cage morphology
def: "A morphological anomaly of the rib cage." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the rib cage" EXACT layperson []
xref: UMLS:C4025763
is_a: HP:0000765 ! Abnormal thorax morphology

[Term]
id: HP:0001548
name: Overgrowth
def: "Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference." [https://orcid.org/0000-0002-0736-9199]
synonym: "General overgrowth" EXACT layperson []
synonym: "Generalised overgrowth" RELATED uk_spelling []
synonym: "Generalized overgrowth" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1849265
xref: UMLS:C1851731
xref: UMLS:C3150281
is_a: HP:0000098 ! Tall stature

[Term]
id: HP:0001549
name: Abnormal ileum morphology
synonym: "Abnormality of the ileum" EXACT []
xref: UMLS:C4025762
is_a: HP:0002244 ! Abnormal small intestine morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-20T11:05:00Z

[Term]
id: HP:0001551
name: Abnormal umbilicus morphology
def: "An abnormality of the structure or appearance of the umbilicus." [https://orcid.org/0000-0002-0736-9199]
comment: The umbilicus is also known as the belly button or the navel.
synonym: "Abnormal belly button" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormal navel" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormal umbilicus" EXACT []
xref: UMLS:C1849338
is_a: HP:0004298 ! Abnormality of the abdominal wall

[Term]
id: HP:0001552
name: Barrel-shaped chest
alt_id: HP:0000781
alt_id: HP:0001553
def: "A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis." [https://orcid.org/0000-0002-0736-9199]
comment: Barrel chest is often seen in persons with pulmonary emphysema or chronic obstructive pulmonary disease.
subset: hposlim_core
synonym: "Barrel chest" EXACT layperson []
synonym: "Barrel-shaped chest" EXACT layperson []
xref: SNOMEDCT_US:24228002
xref: UMLS:C0264172
is_a: HP:0100625 ! Enlarged thorax

[Term]
id: HP:0001555
name: Asymmetry of the thorax
def: "Lack of symmetry between the left and right halves of the thorax." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Asymmetric chest" EXACT layperson []
xref: UMLS:C1858033
is_a: HP:0001547 ! Abnormal rib cage morphology

[Term]
id: HP:0001557
name: Prenatal movement abnormality
alt_id: HP:0007629
def: "An abnormality of fetal movement." [https://orcid.org/0000-0002-0736-9199]
comment: Fetal movements generally become apparent during the second trimester of pregnancy around the 20th week but occasionally up to the 25th week. The initiation of perceptible fetal movements is referred to as 'quickening'.
synonym: "Abnormal intrauterine movements" EXACT []
xref: UMLS:C1849510
is_a: HP:0034059 ! Abnormal fetal physiology

[Term]
id: HP:0001558
name: Decreased fetal movement
alt_id: HP:0001559
alt_id: HP:0006840
alt_id: HP:0007630
alt_id: HP:0007631
def: "An abnormal reduction in quantity or strength of fetal movements." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased fetal activity" EXACT []
synonym: "Decreased fetal movements" EXACT []
synonym: "Decreased foetal activity" EXACT uk_spelling []
synonym: "Decreased foetal movement" EXACT uk_spelling []
synonym: "Decreased foetal movements" EXACT uk_spelling []
synonym: "Decreased movement in utero" EXACT []
synonym: "Dminished fetal movement" EXACT []
synonym: "Dminished foetal movement" EXACT uk_spelling []
synonym: "Fetal hypokinesia" EXACT []
synonym: "Foetal hypokinesia" EXACT uk_spelling []
synonym: "Less than 10 fetal movements in 12 hours" EXACT layperson [PMID:2729383]
synonym: "Less than 10 foetal movements in 12 hours" EXACT uk_spelling []
synonym: "Reduced fetal movement" EXACT []
synonym: "Reduced fetal movements" EXACT []
synonym: "Reduced foetal movement" EXACT uk_spelling []
synonym: "Reduced foetal movements" EXACT uk_spelling []
xref: SNOMEDCT_US:276369006
xref: UMLS:C0235659
is_a: HP:0001557 ! Prenatal movement abnormality

[Term]
id: HP:0001560
name: Abnormality of the amniotic fluid
def: "Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal amniotic fluid" EXACT []
xref: SNOMEDCT_US:42170009
xref: UMLS:C0266781
is_a: HP:0001197 ! Abnormality of prenatal development or birth

[Term]
id: HP:0001561
name: Polyhydramnios
alt_id: HP:0005098
def: "The presence of excess amniotic fluid in the uterus during pregnancy." [https://orcid.org/0000-0002-0736-9199]
comment: Polyhydramnios is diagnosed if the deepest vertical pool of amniotic fluid is more than 8 cm or amniotic fluid index is more than 95th percentile for the corresponding gestational age.
synonym: "High levels of amniotic fluid" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Hydramnios" EXACT []
synonym: "Increased amniotic fluid index" RELATED []
xref: SNOMEDCT_US:86203003
xref: UMLS:C0020224
is_a: HP:0001560 ! Abnormality of the amniotic fluid

[Term]
id: HP:0001562
name: Oligohydramnios
alt_id: HP:0004638
def: "Diminished amniotic fluid volume in pregnancy." [https://orcid.org/0000-0002-0736-9199]
comment: Oligohydramnios is the opposite of polyhydramnios. In normal pregnancy the amniotic fluid volume increases by about 10 ml/day until the 34th, after which it slowly diminishes. A normal amniotic fluid volume at term is about 500-2,000 ml. Oligohydramnios is defined as an AFI (amniotic fluid index) less than 5 cm or smallest vertical pocket of fluid less than 2 cm.
synonym: "Decreased amniotic fluid index" RELATED []
synonym: "Low levels of amniotic fluid" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Maternal oligohydramnios" EXACT []
xref: SNOMEDCT_US:59566000
xref: UMLS:C0079924
xref: UMLS:C3550658
is_a: HP:0001560 ! Abnormality of the amniotic fluid

[Term]
id: HP:0001563
name: Fetal polyuria
def: "Abnormally increased production of urine by the fetus resulting in polyhydramnios." [https://orcid.org/0000-0002-0736-9199, PMID:21460147]
comment: The fetal urine production rate can be measured by ultrasonography.
synonym: "Foetal polyuria" EXACT uk_spelling []
xref: UMLS:C1865279
is_a: HP:0001560 ! Abnormality of the amniotic fluid

[Term]
id: HP:0001566
name: Widely-spaced maxillary central incisors
alt_id: HP:0000669
alt_id: HP:0001570
alt_id: HP:0006300
alt_id: HP:0006324
def: "Increased distance between the maxillary central permanent incisor tooth." [https://orcid.org/0000-0002-9338-3017]
synonym: "Central incisor gap" BROAD layperson []
synonym: "Diastasis of the central incisors" EXACT []
synonym: "Diastema between maxillary central incisors" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Diastema between upper front teeth" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Diastema between upper incisors" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Gap between upper front teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Separated superior central incisors" EXACT []
synonym: "Wide gap between upper central incisors" EXACT layperson []
synonym: "Wide upper central incisors" EXACT []
synonym: "Widely spaced upper incisors" EXACT layperson []
xref: UMLS:C1835762
xref: UMLS:C1845110
xref: UMLS:C4280252
is_a: HP:0006304 ! Widely-spaced incisors

[Term]
id: HP:0001571
name: Multiple impacted teeth
def: "The presence of multiple impacted teeth." [https://orcid.org/0000-0002-9338-3017]
synonym: "Impacted teeth" EXACT layperson []
synonym: "Multiple buried teeth" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Multiple impacted teeth" EXACT layperson []
synonym: "Multiple retained teeth" BROAD [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1839965
xref: UMLS:C4280593
is_a: HP:0011079 ! Impacted tooth

[Term]
id: HP:0001572
name: Macrodontia
def: "Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth." [https://orcid.org/0000-0002-9338-3017, PMID:19125428]
comment: The standard reference has means and standard deviations by gender [Moyers et al, 1976]. Although it is easy to measure the width of teeth, and the definition is made with reference to the width of teeth, macrodontia actually means that the overall size of the tooth is increased.
subset: hposlim_core
synonym: "Hyperplasia of tooth" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypertrophy of tooth" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased size of tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased width of tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Large tooth" EXACT layperson []
synonym: "Megalodontia" EXACT []
synonym: "Tooth mass excess" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:71485000
xref: UMLS:C0266036
xref: UMLS:C4280590
xref: UMLS:C4280591
xref: UMLS:C4280592
is_a: HP:0006482 ! Abnormal dental morphology

[Term]
id: HP:0001574
name: Abnormality of the integument
def: "An abnormality of the integument, which consists of the skin and the superficial fascia." [https://orcid.org/0000-0002-0736-9199]
comment: Abnormality of skin, hair, or nails.
xref: UMLS:C4025761
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0001575
name: obsolete Mood changes
is_obsolete: true
replaced_by: HP:0000712

[Term]
id: HP:0001579
name: Primary hypercortisolism
def: "Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol." [https://orcid.org/0000-0002-0736-9199]
synonym: "ACTH-independent hypercortisolemia" RELATED []
xref: UMLS:C1968852
xref: UMLS:C4025760
is_a: HP:0003118 ! Increased circulating cortisol level

[Term]
id: HP:0001580
name: Pigmented micronodular adrenocortical disease
xref: UMLS:C1968851
is_a: HP:0000849 ! Adrenocortical abnormality

[Term]
id: HP:0001581
name: Recurrent skin infections
alt_id: HP:0007563
def: "Infections of the skin that happen multiple times." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cutaneous infections" EXACT []
synonym: "Recurrent skin infections" EXACT layperson []
synonym: "Skin infections, recurrent" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1853193
is_a: HP:0011123 ! Inflammatory abnormality of the skin

[Term]
id: HP:0001582
name: Redundant skin
alt_id: HP:0007391
def: "Loose and sagging skin often associated with loss of skin elasticity." [https://orcid.org/0000-0002-0736-9199]
synonym: "Loose redundant skin" EXACT layperson []
synonym: "Redundant skin folds" EXACT layperson []
synonym: "Sagging, redundant skin" EXACT layperson []
xref: SNOMEDCT_US:201093004
xref: UMLS:C0581342
is_a: HP:0000973 ! Cutis laxa

[Term]
id: HP:0001583
name: Rotary nystagmus
def: "A form of nystagmus in which the eyeball makes rotary motions around the axis." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Rotatory Nystagmus" EXACT []
xref: SNOMEDCT_US:44526006
xref: SNOMEDCT_US:95783006
xref: UMLS:C0240595
is_a: HP:0000639 ! Nystagmus

[Term]
id: HP:0001586
name: Vesicovaginal fistula
def: "The presence of a fistula connecting the urinary bladder to the vagina." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:89405008
xref: UMLS:C0042582
is_a: HP:0004320 ! Vaginal fistula
is_a: HP:0004321 ! Bladder fistula

[Term]
id: HP:0001587
name: obsolete Primary ovarian failure
is_obsolete: true

[Term]
id: HP:0001591
name: Bell-shaped thorax
alt_id: HP:0006626
alt_id: HP:0006664
def: "The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter." [https://orcid.org/0000-0002-0736-9199]
comment: A bell-shaped thorax is a non-specific finding. In newborns, bell-spahed thorax can indicate a history of intrauterine neuromuscular abnormalities.
subset: hposlim_core
synonym: "Bell-shaped chest" EXACT []
synonym: "Constricted, bell-shaped thorax" EXACT []
synonym: "Narrow, bell-shaped thorax" EXACT []
xref: UMLS:C1865186
is_a: HP:0001547 ! Abnormal rib cage morphology

[Term]
id: HP:0001592
name: Selective tooth agenesis
def: "Agenesis specifically affecting one of the classes incisor, premolar, or molar." [https://orcid.org/0000-0002-9338-3017]
synonym: "Absence of a tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Agenesis of a tooth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of a tooth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing a tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1970308
xref: UMLS:C4280251
is_a: HP:0009804 ! Tooth agenesis

[Term]
id: HP:0001593
name: Maxillary lateral incisor microdontia
def: "Decreased size of the maxillary permanent incisor." [https://orcid.org/0000-0002-9338-3017]
synonym: "Decreased size of maxillary lateral incisor" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of upper lateral incisor" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased width of upper lateral incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypotrophic maxillary lateral incisor" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypotrophic upper lateral incisor" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Small maxillary lateral incisor" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Small upper lateral incisor" BROAD [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1845111
xref: UMLS:C4280588
xref: UMLS:C4280589
is_a: HP:0000691 ! Microdontia
is_a: HP:0011063 ! Abnormal incisor morphology

[Term]
id: HP:0001595
name: Abnormal hair morphology
def: "An abnormality of the hair." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the hair" EXACT layperson []
synonym: "Abnormality of the hair shaft" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Hair abnormality" EXACT layperson []
xref: UMLS:C0157733
xref: UMLS:C2677869
is_a: HP:0011138 ! Abnormal skin adnexa morphology

[Term]
id: HP:0001596
name: Alopecia
alt_id: HP:0002238
alt_id: HP:0008068
def: "A noncongenital process of hair loss, which may progress to partial or complete baldness." [PMID:14676077]
subset: hposlim_core
synonym: "Hair loss" EXACT layperson []
xref: MEDDRA:10001760 "Alopecia"
xref: SNOMEDCT_US:278040002
xref: SNOMEDCT_US:56317004
xref: UMLS:C0002170
is_a: HP:0011362 ! Abnormal hair quantity

[Term]
id: HP:0001597
name: Abnormal nail morphology
def: "Abnormal structure or appearance of the nail." [https://orcid.org/0000-0002-0736-9199]
comment: Abnormality of the fingernails and/or toenails.
synonym: "Abnormality of the nail" EXACT layperson []
synonym: "Nail disease" RELATED layperson []
xref: SNOMEDCT_US:17790008
xref: UMLS:C0027339
xref: UMLS:C0853087
is_a: HP:0011138 ! Abnormal skin adnexa morphology

[Term]
id: HP:0001598
name: Concave nail
alt_id: HP:0001815
def: "The natural longitudinal (posterodistal) convex arch is not present or is inverted." [PMID:19125433]
comment: Koilonychia literally means spoon nails. This often results in a saucer- or spoon-shaped nail and the free edge of the nail is typically everted. The affected digits should be specified. Note that the bundled term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave.
subset: hposlim_core
synonym: "Koilonychia" EXACT []
synonym: "Spoon-shaped nails" EXACT layperson []
xref: SNOMEDCT_US:66270006
xref: UMLS:C0221261
is_a: HP:0002164 ! Nail dysplasia

[Term]
id: HP:0001600
name: Abnormality of the larynx
def: "An abnormality of the larynx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Laryngeal abnormalities" EXACT []
synonym: "Laryngeal anomalies" EXACT []
xref: UMLS:C4021777
is_a: HP:0002087 ! Abnormality of the upper respiratory tract

[Term]
id: HP:0001601
name: Laryngomalacia
def: "Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration." [https://orcid.org/0000-0002-0736-9199]
comment: Laryngomalacia may affect the epiglottis, the arytenoid cartilages, or both. It is the most common cause of congenital stridor.
synonym: "Softening of voice box tissue" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:38086007
xref: UMLS:C0264303
is_a: HP:0025423 ! Abnormal larynx morphology

[Term]
id: HP:0001602
name: Laryngeal stenosis
def: "Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:75547007
xref: UMLS:C0023075
is_a: HP:0025423 ! Abnormal larynx morphology

[Term]
id: HP:0001604
name: Vocal cord paresis
alt_id: HP:0001603
alt_id: HP:0001616
alt_id: HP:0008745
def: "Decreased strength of the vocal folds." [https://orcid.org/0000-0002-0736-9199]
comment: Vocal cord paresis can be characterized by a hoarseness, reduced volume of speech, aspiration and pain in the throat.
synonym: "Hoarse voice due to vocal cord paresis" EXACT []
synonym: "Vocal cord paresis in severe cases" EXACT []
synonym: "Weakness of the vocal cords" EXACT layperson []
xref: SNOMEDCT_US:302912005
xref: SNOMEDCT_US:445424004
xref: UMLS:C0751576
xref: UMLS:C1832690
xref: UMLS:C1843187
xref: UMLS:C1853729
is_a: HP:0001605 ! Vocal cord paralysis

[Term]
id: HP:0001605
name: Vocal cord paralysis
alt_id: HP:0001606
alt_id: HP:0006847
def: "A loss of the ability to move the vocal folds." [https://orcid.org/0000-0002-0736-9199]
comment: Vocal cord paralysis may lead to signs and symptoms such as hoarseness, inability to speak loudly, choking or coughing while eating with the risk of aspiration pneumonia. Affected patients may also experience breathing difficulties.
synonym: "Inability to move vocal cords" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Laryngeal paralysis" EXACT []
xref: SNOMEDCT_US:302912005
xref: UMLS:C0042928
xref: UMLS:C1854345
is_a: HP:0003470 ! Paralysis
is_a: HP:0031801 ! Vocal cord dysfunction

[Term]
id: HP:0001606
name: obsolete Vocal cord paralysis (caused by tumor impingement)
is_obsolete: true
replaced_by: HP:0001605

[Term]
id: HP:0001607
name: Subglottic stenosis
xref: SNOMEDCT_US:22668006
xref: UMLS:C0238441
is_a: HP:0025423 ! Abnormal larynx morphology

[Term]
id: HP:0001608
name: Abnormality of the voice
comment: This term describes any abnormality of the voice, i.e., of the sounds produced by humans by the passage of air through the larynx and over the vocal cords, and then modified by the resonance organs, the nasopharynx, and the mouth.
synonym: "Abnormality of the voice" EXACT layperson []
synonym: "Voice abnormality" EXACT layperson []
xref: UMLS:C4021776
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0001609
name: Hoarse voice
alt_id: HP:0001613
alt_id: HP:0001619
def: "Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hoarse voice" EXACT layperson []
synonym: "Hoarseness" EXACT layperson []
synonym: "Husky voice" EXACT layperson []
xref: SNOMEDCT_US:50219008
xref: UMLS:C0019825
xref: UMLS:C1854348
is_a: HP:0001608 ! Abnormality of the voice

[Term]
id: HP:0001611
name: Hypernasal speech
alt_id: HP:0001614
def: "A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages." []
comment: May be associated with incomplete or weak closure of the velum. Examination is by nasal endoscopy.
synonym: "Hypernasal voice" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389]
synonym: "Nasal speech" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389]
synonym: "Nasal voice" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389]
xref: SNOMEDCT_US:229645001
xref: SNOMEDCT_US:289190003
xref: UMLS:C0454555
xref: UMLS:C0566620
is_a: HP:0001608 ! Abnormality of the voice
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-2592-4715
property_value: terms:contributor https://orcid.org/0000-0002-9593-5508
property_value: terms:contributor https://orcid.org/0000-0003-3777-1389

[Term]
id: HP:0001612
name: Weak cry
xref: SNOMEDCT_US:2120003
xref: UMLS:C0234860
is_a: HP:0025429 ! Abnormal cry

[Term]
id: HP:0001613
name: obsolete Hoarse voice (caused by tumor impingement)
is_obsolete: true
replaced_by: HP:0001609

[Term]
id: HP:0001615
name: Hoarse cry
synonym: "Hoarse cry" EXACT layperson []
xref: UMLS:C2678303
is_a: HP:0001609 ! Hoarse voice

[Term]
id: HP:0001618
name: Dysphonia
def: "Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause." []
synonym: "Inability to produce voice sounds" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389]
synonym: "Voice change" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389]
xref: SNOMEDCT_US:47004009
xref: UMLS:C1527344
is_a: HP:0001608 ! Abnormality of the voice
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-2592-4715
property_value: terms:contributor https://orcid.org/0000-0002-9593-5508
property_value: terms:contributor https://orcid.org/0000-0003-3777-1389

[Term]
id: HP:0001620
name: Abnormally high-pitched voice
alt_id: HP:0001610
alt_id: HP:0008374
alt_id: HP:0008377
alt_id: HP:0008378
alt_id: HP:0008379
alt_id: HP:0009146
def: "A persistent (minutes to hours) abnormal increase in the pitch (frequency) of the voice for the context or social situation or significantly different from baseline of the individual." []
synonym: "High pitched voice" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389]
synonym: "High-pitched voice" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389]
xref: SNOMEDCT_US:51406002
xref: UMLS:C0241703
is_a: HP:5200005 ! Abnormal pitch
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-2592-4715
property_value: terms:contributor https://orcid.org/0000-0002-9593-5508
property_value: terms:contributor https://orcid.org/0000-0003-3777-1389

[Term]
id: HP:0001621
name: Weak voice
def: "Reduced intensity (volume) of speech." [https://orcid.org/0000-0002-0736-9199]
comment: Hypophonia refers to an abnormally weak voice due to incoordination of the muscles concerned in vocalization.
synonym: "Hypophonia" RELATED []
synonym: "Quiet voice" EXACT []
synonym: "Soft voice" EXACT layperson []
synonym: "Weak voice" EXACT layperson []
xref: SNOMEDCT_US:34527004
xref: SNOMEDCT_US:8614008
xref: UMLS:C0241700
xref: UMLS:C0521007
is_a: HP:0001608 ! Abnormality of the voice

[Term]
id: HP:0001622
name: Premature birth
def: "The birth of a baby of less than 37 weeks of gestational age." [https://orcid.org/0000-0002-0736-9199]
synonym: "Premature birth" EXACT layperson []
synonym: "Premature delivery" EXACT []
synonym: "Premature delivery of affected infants" EXACT layperson []
synonym: "Preterm birth" EXACT []
synonym: "Preterm delivery" EXACT layperson []
synonym: "Shortened gestation time" EXACT []
xref: SNOMEDCT_US:282020008
xref: SNOMEDCT_US:367494004
xref: SNOMEDCT_US:49550006
xref: UMLS:C0151526
xref: UMLS:C0233315
is_a: HP:0001197 ! Abnormality of prenatal development or birth

[Term]
id: HP:0001623
name: Breech presentation
def: "A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first." [https://orcid.org/0000-0002-0736-9199]
synonym: "Breech presentation at birth" EXACT []
synonym: "Feet or buttocks of fetus positioned near opening of uterus" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Feet or buttocks of foetus positioned near opening of uterus" EXACT uk_spelling []
xref: SNOMEDCT_US:249101006
xref: SNOMEDCT_US:6096002
xref: UMLS:C0006157
is_a: HP:0001787 ! Abnormal delivery

[Term]
id: HP:0001626
name: Abnormality of the cardiovascular system
alt_id: HP:0003116
def: "Any abnormality of the cardiovascular system." [https://orcid.org/0000-0002-0736-9199]
comment: The cardiovascular system consists of the heart, vasculature, and the lymphatic system.
synonym: "Abnormality of the cardiovascular system" EXACT layperson []
synonym: "Cardiovascular abnormality" EXACT layperson []
synonym: "Cardiovascular disease" RELATED layperson []
xref: SNOMEDCT_US:49601007
xref: UMLS:C0007222
xref: UMLS:C0243050
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0001627
name: Abnormal heart morphology
alt_id: HP:3000001
def: "Any structural anomaly of the heart." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of cardiac morphology" EXACT []
synonym: "Abnormality of the heart" EXACT layperson []
synonym: "Abnormally shaped heart" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Cardiac abnormality" EXACT []
synonym: "Cardiac anomalies" EXACT []
synonym: "Cardiac anomaly" EXACT []
synonym: "Congenital heart defect" EXACT []
synonym: "Congenital heart defects" EXACT []
synonym: "Heart defect" EXACT layperson []
xref: SNOMEDCT_US:13213009
xref: UMLS:C0018798
xref: UMLS:C0152021
is_a: HP:0030680 ! Abnormal cardiovascular system morphology

[Term]
id: HP:0001629
name: Ventricular septal defect
alt_id: HP:0001652
def: "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [https://orcid.org/0000-0002-0736-9199, PMID:33327983]
synonym: "Hole in heart wall separating two lower heart chambers" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Ventricular septal defects" EXACT []
synonym: "Ventriculoseptal defect" EXACT []
synonym: "VSD" EXACT abbreviation []
xref: Fyler:1300
xref: SNOMEDCT_US:253549006
xref: SNOMEDCT_US:30288003
xref: UMLS:C0018818
is_a: HP:0010438 ! Abnormal ventricular septum morphology

[Term]
id: HP:0001631
name: Atrial septal defect
alt_id: HP:0001630
def: "Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
synonym: "An opening in the wall separating the top two chambers of the heart" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "ASD" EXACT abbreviation [https://orcid.org/0000-0002-5316-1399]
synonym: "Atria septal defect" EXACT []
synonym: "Atrial septum defect" EXACT []
synonym: "Atrioseptal defect" EXACT []
synonym: "Defect in the atrial septum" EXACT []
synonym: "Hole in heart wall separating two upper heart chambers" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: Fyler:2050
xref: ICD-10:Q21.1
xref: SNOMEDCT_US:253366007
xref: SNOMEDCT_US:405752007
xref: SNOMEDCT_US:70142008
xref: UMLS:C0018817
is_a: HP:0005120 ! Abnormal cardiac atrium morphology
is_a: HP:0011994 ! Abnormal atrial septum morphology

[Term]
id: HP:0001633
name: Abnormal mitral valve morphology
alt_id: HP:0031477
def: "Any structural anomaly of the mitral valve." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the mitral valve" EXACT []
xref: UMLS:C4025759
is_a: HP:0006705 ! Abnormal atrioventricular valve morphology

[Term]
id: HP:0001634
name: Mitral valve prolapse
def: "One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle." [https://orcid.org/0000-0002-0736-9199]
comment: Mitral valve prolapse can be associated with mitral regurgitation.
xref: Fyler:1533
xref: SNOMEDCT_US:409712001
xref: SNOMEDCT_US:8074002
xref: UMLS:C0026267
is_a: HP:0001633 ! Abnormal mitral valve morphology

[Term]
id: HP:0001635
name: Congestive heart failure
alt_id: HP:0006686
def: "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cardiac failure" EXACT layperson []
synonym: "Cardiac failures" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Cardiac insufficiency" EXACT []
synonym: "CHF" EXACT abbreviation []
synonym: "Chronic heart failure" EXACT []
synonym: "Heart failure" EXACT layperson []
xref: SNOMEDCT_US:42343007
xref: SNOMEDCT_US:84114007
xref: UMLS:C0018801
xref: UMLS:C0018802
is_a: HP:0011025 ! Abnormal cardiovascular system physiology

[Term]
id: HP:0001636
name: Tetralogy of Fallot
def: "A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present." [https://orcid.org/0000-0002-0736-9199]
synonym: "Tetrology of fallot" EXACT []
xref: ICD-10:Q21.3
xref: SNOMEDCT_US:86299006
xref: UMLS:C0039685
is_a: HP:0001710 ! Conotruncal defect

[Term]
id: HP:0001637
name: Abnormal myocardium morphology
def: "A structural anomaly of the muscle layer of the heart wall." []
synonym: "Abnormality of the myocardium" EXACT []
xref: UMLS:C4025758
is_a: HP:0001627 ! Abnormal heart morphology

[Term]
id: HP:0001638
name: Cardiomyopathy
def: "A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality." [https://orcid.org/0000-0002-0736-9199, PMID:17916581]
synonym: "Disease of the heart muscle" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: Fyler:1840
xref: SNOMEDCT_US:57809008
xref: SNOMEDCT_US:85898001
xref: UMLS:C0878544
is_a: HP:0001637 ! Abnormal myocardium morphology

[Term]
id: HP:0001639
name: Hypertrophic cardiomyopathy
def: "Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality." [PMID:17916581]
synonym: "Cardiomyopathy, hypertrophic" EXACT []
synonym: "Enlarged and thickened heart muscle" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "HCM" EXACT abbreviation []
xref: SNOMEDCT_US:233873004
xref: SNOMEDCT_US:45227007
xref: UMLS:C0007194
is_a: HP:0001638 ! Cardiomyopathy

[Term]
id: HP:0001640
name: Cardiomegaly
def: "Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography." [https://orcid.org/0000-0002-0736-9199, PMID:31194436]
synonym: "Enlarged heart" EXACT layperson []
synonym: "Increased heart size" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:8186001
xref: UMLS:C0018800
is_a: HP:0001627 ! Abnormal heart morphology

[Term]
id: HP:0001641
name: Abnormal pulmonary valve morphology
def: "Any structural abnormality of the pulmonary valve." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the pulmonary valve" EXACT []
synonym: "Anomaly of the pulmonary valve" EXACT []
xref: Fyler:1600
xref: Fyler:1602
xref: SNOMEDCT_US:448643005
xref: UMLS:C3164374
is_a: HP:0001654 ! Abnormal heart valve morphology

[Term]
id: HP:0001642
name: Pulmonic stenosis
def: "A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis)." [https://orcid.org/0000-0002-0736-9199]
comment: Pulmonic stenosis is often seen as a part of Fallot' s tetralogy, in which case the events leading to the formation of the overriding aorta are also believed to be a cause of the pulmonic stenosis. The pulmonic stenosis is the major cause of the malformations seen in patients with Fallot tetralogy, with the other associated malformations acting as compensatory mechanisms to the pulmonic stenosis. The degree of stenosis varies between individuals with TOF, and is the primary determinant of symptoms and severity.
synonym: "Narrowing of pulmonic valve" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Pulmonary stenosis" EXACT []
synonym: "Pulmonary valve stenosis" EXACT []
synonym: "Pulmonic valve stenosis" EXACT []
xref: Fyler:1611
xref: SNOMEDCT_US:56786000
xref: UMLS:C1956257
is_a: HP:0031654 ! Abnormal pulmonary valve physiology

[Term]
id: HP:0001643
name: Patent ductus arteriosus
def: "In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences." [https://orcid.org/0000-0002-0736-9199, PMID:20421261]
synonym: "Ductus arteriosus" EXACT []
synonym: "Patent ductus Botalli" EXACT []
synonym: "PDA" EXACT abbreviation []
synonym: "Persistent arterial duct" EXACT []
synonym: "Persistent ductus arteriosus" EXACT []
xref: Fyler:2100
xref: SNOMEDCT_US:83330001
xref: UMLS:C0013274
is_a: HP:0011603 ! Congenital malformation of the great arteries

[Term]
id: HP:0001644
name: Dilated cardiomyopathy
alt_id: HP:0001725
alt_id: HP:0005159
alt_id: HP:0200130
def: "Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis." [PMID:17916581]
synonym: "Cardiomyopathy, dilated" EXACT []
synonym: "Congestive cardiomyopathy" EXACT []
synonym: "DCM" EXACT abbreviation []
synonym: "Stretched and thinned heart muscle" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: Fyler:1843
xref: SNOMEDCT_US:195021004
xref: SNOMEDCT_US:399020009
xref: UMLS:C0007193
is_a: HP:0001638 ! Cardiomyopathy

[Term]
id: HP:0001645
name: Sudden cardiac death
alt_id: HP:0005161
def: "The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Premature sudden cardiac death" EXACT layperson []
synonym: "Sudden cardiac death" EXACT layperson []
xref: SNOMEDCT_US:95281009
xref: UMLS:C0085298
is_a: HP:0001695 ! Cardiac arrest
is_a: HP:0001699 ! Sudden death

[Term]
id: HP:0001646
name: Abnormal aortic valve morphology
def: "Any abnormality of the aortic valve." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the aortic valve" EXACT []
xref: Fyler:1400
xref: Fyler:1408
xref: SNOMEDCT_US:448743001
xref: UMLS:C3164445
is_a: HP:0001654 ! Abnormal heart valve morphology

[Term]
id: HP:0001647
name: Bicuspid aortic valve
def: "The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps)." [https://orcid.org/0000-0002-0736-9199, PMID:17467434, PMID:24827036]
comment: A normal aortic valve is composed of three aortic-valve cusps, each semilunar in appearance. The leaflets are housed within a small dilatation of the proximal aorta associated with each cusp, called the sinuses of Valsalva or aortic sinuses, and their association with the respective coronary ostia identifies them: left, right, and non-coronary sinuses. Each cusp is attached to the wall of the aorta by the outward edges of its semicircular border, and the attachment point between each leaflet is called a commissure [PMID:24827036].
synonym: "Aortic valve has two leaflets rather than three" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:72352009
xref: UMLS:C0149630
is_a: HP:0031567 ! Abnormal aortic valve cusp morphology

[Term]
id: HP:0001648
name: Cor pulmonale
def: "Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle." [https://orcid.org/0000-0002-0736-9199]
comment: Cor pulmonale refers to a change in structure and function of the right ventricle of the heart as a result of a pulmonary disorder, generally resulting in right ventricular hypertrophy.
xref: SNOMEDCT_US:274096000
xref: SNOMEDCT_US:83291003
xref: UMLS:C0034072
is_a: HP:0001707 ! Abnormal right ventricle morphology

[Term]
id: HP:0001649
name: Tachycardia
alt_id: HP:0001673
alt_id: HP:0001720
def: "A rapid heartrate that exceeds the range of the normal resting heartrate for age." [https://orcid.org/0000-0002-0736-9199]
synonym: "Elevated heart rate" RELATED layperson []
synonym: "Fast heart rate" EXACT layperson []
synonym: "Heart racing" EXACT layperson []
synonym: "Increased heart rate" RELATED layperson []
synonym: "Racing heart" EXACT layperson []
synonym: "Rapid heart beat" RELATED layperson []
xref: SNOMEDCT_US:3424008
xref: SNOMEDCT_US:86651002
xref: UMLS:C0039231
xref: UMLS:C4020868
is_a: HP:0011675 ! Arrhythmia

[Term]
id: HP:0001650
name: Aortic valve stenosis
alt_id: HP:0005140
def: "The presence of a stenosis (narrowing) of the aortic valve." [https://orcid.org/0000-0002-0736-9199]
comment: Aortic stenosis can lead to a pressure gradient between the left ventricle and the aorta and may result in left ventricular hypertrophy and decreased left ventricular compliance.
synonym: "Aortic stenosis" EXACT []
synonym: "Narrowing of aortic valve" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Valvular aortic stenosis" EXACT []
xref: Fyler:1411
xref: SNOMEDCT_US:60573004
xref: UMLS:C0003507
is_a: HP:0031652 ! Abnormal aortic valve physiology

[Term]
id: HP:0001651
name: Dextrocardia
def: "The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or \"mirror reflection\") of the anatomical location of the heart in which the heart is locate on the right side instead of the left." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0009-0006-4530-3154]
synonym: "Heart tip and four chambers point towards right side of body" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Thoracic situs inversus" EXACT []
xref: EPCC:02.01.02
xref: Fyler:0110
xref: Fyler:110
xref: ICD-10:Q24.0
xref: SNOMEDCT_US:27637000
xref: UMLS:C0011813
is_a: HP:0004307 ! Abnormal anatomic location of the heart

[Term]
id: HP:0001653
name: Mitral regurgitation
def: "An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Mitral incompetence" EXACT []
synonym: "Mitral insufficiency" EXACT []
synonym: "Mitral regurgitation, mild" RELATED []
synonym: "Mitral valve insufficiency" EXACT []
synonym: "Mitral valve regurgitation" EXACT []
xref: Fyler:1151
xref: SNOMEDCT_US:48724000
xref: UMLS:C0026266
xref: UMLS:C3551535
is_a: HP:0031481 ! Abnormal mitral valve physiology
is_a: HP:0034376 ! Atrioventricular valve regurgitation

[Term]
id: HP:0001654
name: Abnormal heart valve morphology
alt_id: HP:0001703
def: "Any structural abnormality of a cardiac valve." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the heart valves" EXACT []
synonym: "Valvular abnormality" EXACT []
synonym: "Valvular heart disease" RELATED []
xref: SNOMEDCT_US:368009
xref: UMLS:C0018824
xref: UMLS:C0241654
is_a: HP:0001627 ! Abnormal heart morphology

[Term]
id: HP:0001655
name: Patent foramen ovale
def: "Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
comment: The foramen ovale is located in the atrial septum and is essential for proper fetal circulation. With separation from the placenta and with the first few breaths, the left atrium fills with blood returning from the lungs and closes the foramen ovale. Subsequently, during the first years of life, the foramen ovale seals shut.
synonym: "Persistent foramen ovale" EXACT []
synonym: "PFO" EXACT abbreviation []
xref: Fyler:2020
xref: ICD-10:Q21.1
xref: SNOMEDCT_US:204317008
xref: UMLS:C0016522
is_a: HP:0001631 ! Atrial septal defect

[Term]
id: HP:0001657
name: Prolonged QT interval
def: "Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG)." [https://orcid.org/0000-0002-0736-9199]
comment: The QT interval represents electrical depolarization and repolarization of the left and right ventricles.
synonym: "Long Q-T syndrome" RELATED []
synonym: "Long QT syndrome" EXACT []
synonym: "Prolong qt interval on ekg" EXACT []
xref: SNOMEDCT_US:111975006
xref: UMLS:C0151878
is_a: HP:0031547 ! Abnormal QT interval

[Term]
id: HP:0001658
name: Myocardial infarction
def: "Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin." [https://orcid.org/0000-0002-0736-9199]
synonym: "Heart attack" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "MI" EXACT abbreviation []
xref: SNOMEDCT_US:22298006
xref: UMLS:C0027051
is_a: HP:0033678 ! Acute coronary syndrome

[Term]
id: HP:0001659
name: Aortic regurgitation
def: "An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Aortic insufficiency" EXACT []
synonym: "Aortic valve regurgitation" EXACT []
xref: SNOMEDCT_US:60234000
xref: UMLS:C0003504
is_a: HP:0031652 ! Abnormal aortic valve physiology

[Term]
id: HP:0001660
name: Truncus arteriosus
def: "A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
synonym: "Common arterial trunk" EXACT []
synonym: "Persistent truncus arteriosus" RELATED []
xref: Fyler:0500
xref: Fyler:500
xref: ICD-10:Q20.0
xref: SNOMEDCT_US:58140002
xref: UMLS:C0041206
xref: UMLS:C4020867
is_a: HP:0011603 ! Congenital malformation of the great arteries

[Term]
id: HP:0001662
name: Bradycardia
def: "A slower than normal heart rate (in adults, slower than 60 beats per minute)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Brachycardia" EXACT []
synonym: "Slow heartbeats" EXACT layperson []
xref: SNOMEDCT_US:48867003
xref: UMLS:C0428977
is_a: HP:0011675 ! Arrhythmia

[Term]
id: HP:0001663
name: Ventricular fibrillation
alt_id: HP:0005166
def: "Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:71908006
xref: UMLS:C0042510
is_a: HP:0004308 ! Ventricular arrhythmia

[Term]
id: HP:0001664
name: Torsade de pointes
def: "A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG." [https://orcid.org/0000-0002-0736-9199]
synonym: "Torsades de pointes" EXACT []
xref: SNOMEDCT_US:31722008
xref: UMLS:C0040479
is_a: HP:0004308 ! Ventricular arrhythmia

[Term]
id: HP:0001667
name: Right ventricular hypertrophy
def: "In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal." [https://orcid.org/0000-0002-0736-9199]
synonym: "Heart right ventricle hypertrophy" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: Fyler:3609
xref: SNOMEDCT_US:89792004
xref: UMLS:C0162770
is_a: HP:0001707 ! Abnormal right ventricle morphology
is_a: HP:0001714 ! Ventricular hypertrophy

[Term]
id: HP:0001669
name: Transposition of the great arteries
def: "A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle." [eMedicine:900574, https://orcid.org/0000-0002-0736-9199, PMID:10798431]
synonym: "TGA" EXACT abbreviation []
synonym: "TGV" EXACT abbreviation []
synonym: "Transposition of great vessels" EXACT []
xref: SNOMEDCT_US:204296002
xref: SNOMEDCT_US:26146002
xref: UMLS:C3536741
is_a: HP:0011563 ! Abnormal ventriculoarterial connection
is_a: HP:0011603 ! Congenital malformation of the great arteries

[Term]
id: HP:0001670
name: Asymmetric septal hypertrophy
def: "Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray." [https://orcid.org/0000-0002-0736-9199, PMID:17916581]
xref: UMLS:C0205700
is_a: HP:0001639 ! Hypertrophic cardiomyopathy

[Term]
id: HP:0001671
name: Abnormal cardiac septum morphology
alt_id: HP:0001690
alt_id: HP:0004760
def: "An anomaly of the intra-atrial or intraventricular septum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the cardiac septa" EXACT []
synonym: "Heart septal defect" EXACT []
synonym: "Septal defects" EXACT plural_form []
xref: SNOMEDCT_US:253273004
xref: SNOMEDCT_US:396351009
xref: SNOMEDCT_US:59494005
xref: UMLS:C0018816
is_a: HP:0001627 ! Abnormal heart morphology

[Term]
id: HP:0001673
name: obsolete Tachycardia (with pheochromocytoma)
is_obsolete: true
replaced_by: HP:0001649

[Term]
id: HP:0001674
name: Complete atrioventricular canal defect
alt_id: HP:0001689
alt_id: HP:0006697
def: "A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:16722604]
comment: The complete form of AVC shows an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the interventricular septum inlet. CAVC can be classified into types A, B or C according to the morphology of the common atrioventricular valve.
synonym: "Common atrioventricular canal" EXACT []
synonym: "Complete atrioventricular canal" EXACT []
synonym: "Complete atrioventricular septal defect" EXACT []
synonym: "Complete common AV canal" EXACT []
xref: Fyler:1120
is_a: HP:0006695 ! Atrioventricular canal defect

[Term]
id: HP:0001675
name: obsolete Rhythm disturbances associated with pheochromocytoma
is_obsolete: true
replaced_by: HP:0011675

[Term]
id: HP:0001676
name: obsolete Palpitations (with pheochromocytoma)
is_obsolete: true
replaced_by: HP:0001962

[Term]
id: HP:0001677
name: Coronary artery atherosclerosis
alt_id: HP:0004929
alt_id: HP:0005138
def: "Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia." [https://orcid.org/0000-0002-0736-9199, PMID:31420554]
comment: Coronary artery disease, also called atherosclerotic heart disease, is the result of atheromatous plaques within the coronary arteries leading to myocardial ischemia and infarction.
synonym: "Coronary atherosclerosis" EXACT []
synonym: "Coronary disease" EXACT []
synonym: "Plaque build-up in arteries supplying blood to heart" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:414024009
xref: SNOMEDCT_US:53741008
xref: UMLS:C1956346
is_a: HP:0002621 ! Atherosclerosis
is_a: HP:0006704 ! Abnormal coronary artery morphology
is_a: HP:0100545 ! Arterial stenosis

[Term]
id: HP:0001678
name: Atrioventricular block
alt_id: HP:0001668
alt_id: HP:0005142
alt_id: HP:0006672
def: "Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles." [https://orcid.org/0000-0002-0736-9199]
synonym: "Atrioventricular nodal disease" RELATED []
synonym: "Interruption of electrical communication between upper and lower chambers of heart" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:233917008
xref: UMLS:C0004245
xref: UMLS:C1841659
is_a: HP:0005150 ! Abnormal atrioventricular conduction
is_a: HP:0012722 ! Heart block

[Term]
id: HP:0001679
name: Abnormal aortic morphology
alt_id: HP:0030963
def: "An abnormality of the aorta." [https://orcid.org/0000-0002-0736-9199, PMID:24910511]
synonym: "Abnormal aorta morphology" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the aorta" EXACT []
xref: Fyler:1453
xref: UMLS:C4025756
is_a: HP:0011004 ! Abnormal systemic arterial morphology
is_a: HP:0030962 ! Abnormal morphology of the great vessels

[Term]
id: HP:0001680
name: Coarctation of aorta
def: "Coarctation of the aorta is a narrowing or constriction of a segment of the aorta." [https://orcid.org/0000-0002-0736-9199, PMID:23909637]
comment: Coarctation refers to a narrowing of the lumen of a vessel producing an obstruction to flow. Coarctation can occur in any region of the aorta. Coarctation of the aorta is often a discrete obstruction commonly located in the descending thoracic aorta. More specifically, it is usually located in the juxtaductal position immediately distal to the left-subclavian artery in a left-sided arch. The hallmark clinical finding in coarctation of the aorta is hypertension proximal to the lesion, with diminished blood pressure distal to the obstruction. Consequently, clinical diagnosis can be made by the presence of diminished lower extremity pulses, differences in timing between upper extremity central pulses (often brachial) and lower extremity central pulses (often femoral), or the presence of a supine arm-leg blood pressure gradient.
synonym: "Aortic coarctation" EXACT []
synonym: "Coarctation of the aorta" EXACT []
synonym: "Narrowing of aorta" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Narrowing of the aorta" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:7305005
xref: UMLS:C0003492
is_a: HP:0001679 ! Abnormal aortic morphology

[Term]
id: HP:0001681
name: Angina pectoris
def: "Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:194828000
xref: SNOMEDCT_US:225566008
xref: UMLS:C0002962
is_a: HP:0011025 ! Abnormal cardiovascular system physiology

[Term]
id: HP:0001682
name: Subvalvular aortic stenosis
def: "A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve." [https://orcid.org/0000-0002-0736-9199]
comment: Narrowing of the left ventricle of the heart just below the aortic valve through which blood must pass on its way up into the aorta.
synonym: "Narrowing of blood vessel below aortic heart valve" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Subaortic stenosis" EXACT []
xref: SNOMEDCT_US:204368006
xref: UMLS:C0340375
is_a: HP:0011103 ! Abnormal left ventricular outflow tract morphology

[Term]
id: HP:0001683
name: Ectopia cordis
def: "Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall." [HPO_CONTRIBUTOR:DDD_dbrown]
comment: See Moss and Adams 'Heart Disease in Infants, Children and Adolescents' p1168. Ectopia cordis has a very poor prognosis. Ectopia cordis is generally divided into five types: cervical, cervicothoracic, thoracic, abdominal, and thoracicoabdominal. Ectopia cordis is rare (5-8 per million live births), but the two most common forms are thoracic (59%) and thoracicoabdominal (38%).
xref: Fyler:0170
xref: Fyler:170
xref: SNOMEDCT_US:78250005
xref: UMLS:C0013580
is_a: HP:0004307 ! Abnormal anatomic location of the heart

[Term]
id: HP:0001684
name: Secundum atrial septal defect
alt_id: HP:0200131
def: "A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
synonym: "Atrial septal defect, ostium secundum type" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Ostium secundum atrial septal defect" EXACT []
synonym: "Patent ostium secundum" EXACT []
xref: Fyler:2000
xref: ICD-10:Q21.1
xref: SNOMEDCT_US:204315000
xref: UMLS:C0344724
is_a: HP:0001631 ! Atrial septal defect

[Term]
id: HP:0001685
name: Myocardial fibrosis
def: "Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts." [PMID:28157267]
comment: Myocardial fibrosis disrupts the myocardial architecture, contributes to myocardial disarray, and determines mechanical, electrical, and vasomotor dysfunction, thus promoting the progression of cardiac diseases to heart failure.
xref: UMLS:C0151654
is_a: HP:0001637 ! Abnormal myocardium morphology

[Term]
id: HP:0001686
name: Loss of voice
synonym: "Aphonia" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:441913003
xref: SNOMEDCT_US:44564008
xref: UMLS:C0003564
is_a: HP:0001608 ! Abnormality of the voice

[Term]
id: HP:0001688
name: Sinus bradycardia
alt_id: HP:0005137
def: "Bradycardia related to a mean resting sinus rate of less than 50 beats per minute." [https://orcid.org/0000-0002-0736-9199]
xref: Fyler:7013
xref: SNOMEDCT_US:49710005
xref: UMLS:C0085610
is_a: HP:0001662 ! Bradycardia
is_a: HP:0011702 ! Abnormal electrophysiology of sinoatrial node origin

[Term]
id: HP:0001691
name: Muscular subvalvular aortic stenosis
def: "A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract." [https://orcid.org/0000-0002-0736-9199]
synonym: "Muscular subaortic stenosis" EXACT []
xref: UMLS:C3887554
is_a: HP:0001682 ! Subvalvular aortic stenosis

[Term]
id: HP:0001692
name: Atrial arrhythmia
def: "A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance." [HPO_CONTRIBUTOR:DDD_dbrown]
synonym: "Primary atrial arrhythmia" RELATED []
xref: SNOMEDCT_US:17366009
xref: UMLS:C0085611
xref: UMLS:C4025755
is_a: HP:0005115 ! Supraventricular arrhythmia

[Term]
id: HP:0001693
name: Cardiac shunt
def: "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:442119001
xref: UMLS:C0232180
is_a: HP:0011028 ! Abnormality of blood circulation

[Term]
id: HP:0001694
name: Right-to-left shunt
def: "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left." [https://orcid.org/0000-0001-9114-8737]
xref: SNOMEDCT_US:79692001
xref: UMLS:C0428871
is_a: HP:0001693 ! Cardiac shunt

[Term]
id: HP:0001695
name: Cardiac arrest
def: "An abrupt loss of heart function." []
synonym: "Heart stops beating" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:397829000
xref: SNOMEDCT_US:410429000
xref: UMLS:C0018790
is_a: HP:0011675 ! Arrhythmia

[Term]
id: HP:0001696
name: Situs inversus totalis
def: "A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
synonym: "All organs on wrong side of body" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Situs inversus" RELATED []
synonym: "situs oppositus" EXACT []
synonym: "situs transversus" EXACT []
xref: Fyler:0100
xref: Fyler:100
xref: SNOMEDCT_US:14821001
xref: SNOMEDCT_US:24614000
xref: SNOMEDCT_US:27317008
xref: SNOMEDCT_US:43876007
xref: UMLS:C0037221
xref: UMLS:C0266642
is_a: HP:0001651 ! Dextrocardia
is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments

[Term]
id: HP:0001697
name: Abnormal pericardium morphology
def: "An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the pericardium" EXACT []
xref: Fyler:1900
xref: UMLS:C4025754
is_a: HP:0001627 ! Abnormal heart morphology

[Term]
id: HP:0001698
name: Pericardial effusion
def: "Accumulation of fluid within the pericardium." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fluid around heart" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Pericardial effusions" EXACT []
xref: Fyler:1940
xref: SNOMEDCT_US:373945007
xref: UMLS:C0031039
is_a: HP:0001697 ! Abnormal pericardium morphology

[Term]
id: HP:0001699
name: Sudden death
def: "Rapid and unexpected death." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:26636000
xref: UMLS:C0011071
is_a: HP:0025142 ! Constitutional symptom

[Term]
id: HP:0001700
name: Myocardial necrosis
def: "Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction)." [PMID:20405318]
xref: SNOMEDCT_US:251061000
xref: UMLS:C1442837
is_a: HP:0001637 ! Abnormal myocardium morphology

[Term]
id: HP:0001701
name: Pericarditis
def: "Inflammation of the sac-like covering around the heart (pericardium)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Swelling or irritation of membrane around heart" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:3238004
xref: UMLS:C0031046
is_a: HP:0001697 ! Abnormal pericardium morphology
is_a: HP:0045073 ! Serositis

[Term]
id: HP:0001702
name: Abnormal tricuspid valve morphology
alt_id: HP:0031440
def: "Any structural anomaly of the tricuspid valve." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the tricuspid valve" EXACT []
xref: EPCC:06.01.00
xref: UMLS:C4025753
is_a: HP:0006705 ! Abnormal atrioventricular valve morphology

[Term]
id: HP:0001704
name: Tricuspid valve prolapse
def: "One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle." [https://orcid.org/0000-0002-0736-9199]
xref: Fyler:1733
xref: SNOMEDCT_US:253383003
xref: UMLS:C0040962
is_a: HP:0001702 ! Abnormal tricuspid valve morphology

[Term]
id: HP:0001705
name: Right ventricular outlet tract obstruction
def: "An obstruction to the forward flow of blood in the outflow tract of the right ventricle." [PMID:30038501]
synonym: "Right ventricular outlet obstruction" EXACT []
xref: UMLS:C0035619
is_a: HP:0033118 ! Abnormal right ventricular function

[Term]
id: HP:0001706
name: Endocardial fibroelastosis
def: "Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction" [PMID:23109776]
xref: SNOMEDCT_US:65457005
xref: UMLS:C0014117
is_a: HP:0004306 ! Abnormal endocardium morphology

[Term]
id: HP:0001707
name: Abnormal right ventricle morphology
def: "An abnormality of the right ventricle of the heart." [https://orcid.org/0000-0002-0736-9199]
comment: The function of the right ventricle is to receive blood from the right atrium and to eject blood into the pulmonary artery.
synonym: "Abnormality of the right ventricle" EXACT []
synonym: "Right ventricular abnormality" EXACT []
xref: Fyler:1820
xref: SNOMEDCT_US:253516002
xref: UMLS:C0344887
is_a: HP:0001713 ! Abnormal cardiac ventricle morphology

[Term]
id: HP:0001708
name: Right ventricular failure
def: "Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly." [https://orcid.org/0000-0002-0736-9199]
synonym: "Impaired right ventricular function" EXACT []
synonym: "Right ventricular impairment" EXACT []
synonym: "Right-sided heart failure" EXACT []
xref: SNOMEDCT_US:128404006
xref: SNOMEDCT_US:367363000
xref: UMLS:C0235527
xref: UMLS:C2939447
is_a: HP:0033118 ! Abnormal right ventricular function

[Term]
id: HP:0001709
name: Third degree atrioventricular block
def: "Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them." [PMID:21841933]
synonym: "Complete heart block" EXACT layperson []
synonym: "Third-degree heart block" RELATED []
xref: SNOMEDCT_US:27885002
xref: UMLS:C0151517
is_a: HP:0001678 ! Atrioventricular block

[Term]
id: HP:0001710
name: Conotruncal defect
def: "A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Conotruncal heart defects" EXACT []
xref: UMLS:C1853238
is_a: HP:0011563 ! Abnormal ventriculoarterial connection
is_a: HP:0011603 ! Congenital malformation of the great arteries

[Term]
id: HP:0001711
name: Abnormal left ventricle morphology
def: "Any structural abnormality of the left ventricle of the heart." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal heart left ventricle morphology" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the left ventricle" EXACT []
synonym: "Left ventricular abnormality" EXACT []
xref: Fyler:1810
xref: SNOMEDCT_US:253535002
xref: UMLS:C0344905
is_a: HP:0001713 ! Abnormal cardiac ventricle morphology

[Term]
id: HP:0001712
name: Left ventricular hypertrophy
alt_id: HP:0005171
def: "Enlargement or increased size of the heart left ventricle." [MP:0002625]
synonym: "Heart left ventricle hypertrophy" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Left ventricular wall hypertrophy" EXACT []
xref: Fyler:3608
xref: SNOMEDCT_US:55827005
xref: UMLS:C0149721
is_a: HP:0001711 ! Abnormal left ventricle morphology
is_a: HP:0001714 ! Ventricular hypertrophy

[Term]
id: HP:0001713
name: Abnormal cardiac ventricle morphology
def: "An abnormality of a cardiac ventricle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of cardiac ventricle" EXACT []
xref: UMLS:C4025752
is_a: HP:0001627 ! Abnormal heart morphology

[Term]
id: HP:0001714
name: Ventricular hypertrophy
alt_id: HP:0005167
def: "Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:266249003
xref: UMLS:C0340279
is_a: HP:0001713 ! Abnormal cardiac ventricle morphology

[Term]
id: HP:0001716
name: Wolff-Parkinson-White syndrome
def: "A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:74390002
xref: UMLS:C0043202
is_a: HP:0004309 ! Ventricular preexcitation

[Term]
id: HP:0001717
name: Coronary artery calcification
def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:445512009
xref: UMLS:C1611184
is_a: HP:0003207 ! Arterial calcification
is_a: HP:0006704 ! Abnormal coronary artery morphology

[Term]
id: HP:0001718
name: Mitral stenosis
alt_id: HP:0005163
def: "An abnormal narrowing of the orifice of the mitral valve." [HPO_CONTRIBUTOR:DDD_dbrown]
synonym: "Mitral valve stenosis" EXACT []
xref: EPCC:06.02.92
xref: Fyler:1511
xref: ICD-10:Q23.2
xref: SNOMEDCT_US:79619009
xref: UMLS:C0026269
is_a: HP:0031481 ! Abnormal mitral valve physiology

[Term]
id: HP:0001719
name: Double outlet right ventricle
def: "Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle." [https://orcid.org/0000-0002-0736-9199, PMID:10798433]
comment: During the development of the heart, the outflow tract initially connects exclusively with the primitive right ventricle and must undergo extensive remodeling to divide into a separate pulmonary artery and aorta; subsequently, there is continued remodeling to establish direct continuity from the left ventricle to the aorta. DORV encompasses a wide spectrum of anatomic arrangements and pathophysiologic disturbances. At one end of the spectrum, it mimics tetralogy of Fallot in the presence of pulmonary stenosis, or a large ventricular septal defect (VSD) in the absence of such stenosis. At the other end of the spectrum, it behaves like transposition of the great arteries with a VSD.
synonym: "DORV" EXACT abbreviation []
synonym: "Double-outlet right ventricle" EXACT []
xref: Fyler:600
xref: Fyler:606
xref: SNOMEDCT_US:7484005
xref: UMLS:C0013069
is_a: HP:0001710 ! Conotruncal defect
is_a: HP:0011723 ! Congenital malformation of the right heart

[Term]
id: HP:0001722
name: High-output congestive heart failure
def: "A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C0742747
is_a: HP:0001635 ! Congestive heart failure

[Term]
id: HP:0001723
name: Restrictive cardiomyopathy
alt_id: HP:0005130
def: "Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness." [https://orcid.org/0000-0002-0736-9199, PMID:17916581]
comment: Historically, systolic function was said to be preserved in RCM, but is rare for contractility to be truly normal. Restrictive physiology can occur in patients with end-stage hypertrophic and DCM.
xref: SNOMEDCT_US:415295002
xref: SNOMEDCT_US:90828009
xref: UMLS:C0007196
is_a: HP:0001638 ! Cardiomyopathy

[Term]
id: HP:0001724
name: obsolete Aortic dilatation
is_obsolete: true
replaced_by: HP:0004942

[Term]
id: HP:0001726
name: obsolete Increased prevalence of valvular disease
is_obsolete: true
consider: HP:0001654

[Term]
id: HP:0001727
name: Thromboembolic stroke
def: "A cerebrovascular accident (stroke) that occurs because of thromboembolism." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1112433
is_a: HP:0001907 ! Thromboembolism

[Term]
id: HP:0001730
name: Progressive hearing impairment
alt_id: HP:0008590
def: "A progressive form of hearing impairment." [https://orcid.org/0000-0002-0736-9199]
synonym: "Progressive hearing loss" EXACT []
xref: UMLS:C1842138
is_a: HP:0000365 ! Hearing impairment

[Term]
id: HP:0001732
name: Abnormality of the pancreas
def: "An abnormality of the pancreas." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the pancreas" EXACT layperson []
synonym: "Pancreatic disease" RELATED layperson []
xref: SNOMEDCT_US:3855007
xref: UMLS:C0030286
xref: UMLS:C4025751
is_a: HP:0002012 ! Abnormality of the abdominal organs

[Term]
id: HP:0001733
name: Pancreatitis
def: "The presence of inflammation in the pancreas." [https://orcid.org/0000-0002-0736-9199]
synonym: "Pancreatic inflammation" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:75694006
xref: UMLS:C0030305
is_a: HP:0012091 ! Abnormality of pancreas physiology
is_a: HP:0012649 ! Increased inflammatory response

[Term]
id: HP:0001734
name: Annular pancreas
def: "A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:40315008
xref: UMLS:C0149955
is_a: HP:0012090 ! Abnormal pancreas morphology

[Term]
id: HP:0001735
name: Acute pancreatitis
alt_id: HP:0004512
def: "A acute form of pancreatitis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Acute pancreatic inflammation" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Pancreatitis, acute" EXACT []
xref: SNOMEDCT_US:197456007
xref: UMLS:C0001339
is_a: HP:0001733 ! Pancreatitis

[Term]
id: HP:0001737
name: Pancreatic cysts
def: "A cyst of the pancreas that possess a lining of mucous epithelium." [https://orcid.org/0000-0002-0736-9199]
comment: Pancreatic cysts are to be distinguished from pancreatic pseudocysts that do not possess a lining of mucous epithelium.
synonym: "Multiple pancreatic cysts" RELATED layperson []
synonym: "Pancreatic cyst" RELATED layperson []
synonym: "Pancreatic cysts" EXACT layperson []
xref: SNOMEDCT_US:31258000
xref: UMLS:C0030283
xref: UMLS:C1860394
is_a: HP:0012090 ! Abnormal pancreas morphology

[Term]
id: HP:0001738
name: Exocrine pancreatic insufficiency
alt_id: HP:0002581
alt_id: HP:0004508
alt_id: HP:0004509
def: "Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Inability to properly digest food due to lack of pancreatic digestive enzymes" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Pancreatic insufficiency" RELATED []
xref: SNOMEDCT_US:37992001
xref: SNOMEDCT_US:47367009
xref: UMLS:C0030293
xref: UMLS:C0267963
is_a: HP:0012092 ! Abnormality of exocrine pancreas physiology

[Term]
id: HP:0001739
name: Abnormal nasopharynx morphology
def: "A structural anomaly of the nasopharynx." []
comment: The nasopharynx (nasal part of the pharynx) lies behind the nose and above the level of the soft palate.
synonym: "Abnormality of the nasopharynx" EXACT []
xref: UMLS:C4025750
is_a: HP:0000366 ! Abnormality of the nose
is_a: HP:0033151 ! Abnormal pharynx morphology

[Term]
id: HP:0001741
name: Phimosis
def: "The male foreskin cannot be fully retracted from the head of the penis." [https://orcid.org/0009-0006-4530-3154]
xref: SNOMEDCT_US:253854008
xref: UMLS:C0345326
is_a: HP:0100587 ! Abnormal preputium morphology

[Term]
id: HP:0001742
name: Nasal congestion
def: "Reduced ability to pass air through the nasal cavity often leading to mouth breathing." [https://orcid.org/0000-0002-0736-9199]
synonym: "Blockage of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Congestion of nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Nasal blockage" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Nasal obstruction" EXACT layperson []
synonym: "Obstruction of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Stuffy nose" EXACT layperson [http://www.entnet.org/content/stuffy-nose]
xref: SNOMEDCT_US:232209000
xref: SNOMEDCT_US:267100006
xref: SNOMEDCT_US:68235000
xref: UMLS:C0027424
xref: UMLS:C0027429
is_a: HP:0000366 ! Abnormality of the nose

[Term]
id: HP:0001743
name: Abnormality of the spleen
def: "An abnormality of the spleen." [https://orcid.org/0000-0002-0736-9199]
comment: The spleen is an abdominal organ that functions as a member of the hematopoietic system and of the immune system.
synonym: "Abnormality of the spleen" EXACT layperson []
xref: UMLS:C4025749
is_a: HP:0002012 ! Abnormality of the abdominal organs
is_a: HP:0100763 ! Abnormality of the lymphatic system

[Term]
id: HP:0001744
name: Splenomegaly
alt_id: HP:0001745
alt_id: HP:0006269
def: "Abnormal increased size of the spleen." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased spleen size" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Large spleen" EXACT layperson []
xref: SNOMEDCT_US:16294009
xref: UMLS:C0038002
is_a: HP:0003271 ! Visceromegaly
is_a: HP:0025408 ! Abnormal spleen morphology

[Term]
id: HP:0001746
name: Asplenia
def: "Absence (aplasia) of the spleen." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent spleen" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: Fyler:4771
xref: SNOMEDCT_US:702624008
xref: SNOMEDCT_US:707147002
xref: SNOMEDCT_US:93030006
xref: UMLS:C0600031
is_a: HP:0010451 ! Aplasia/Hypoplasia of the spleen

[Term]
id: HP:0001747
name: Accessory spleen
def: "An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance." [https://orcid.org/0000-0002-0736-9199]
xref: Fyler:4772
xref: SNOMEDCT_US:10362008
xref: UMLS:C0266631
is_a: HP:0009799 ! Supernumerary spleens

[Term]
id: HP:0001748
name: Polysplenia
alt_id: HP:0001749
alt_id: HP:0006271
alt_id: HP:0006272
def: "Polysplenia is a congenital disease manifested by multiple small accessory spleens." [https://orcid.org/0000-0002-0736-9199]
synonym: "Accessory spleens" EXACT []
synonym: "Multiple accessory spleens" EXACT []
synonym: "Multiple small spleens" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1856659
is_a: HP:0009799 ! Supernumerary spleens

[Term]
id: HP:0001750
name: Single ventricle
def: "The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle." [MP:0010432]
synonym: "Common ventricle" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: Fyler:0200
xref: Fyler:200
xref: SNOMEDCT_US:45503006
xref: UMLS:C0152424
is_a: HP:0001713 ! Abnormal cardiac ventricle morphology

[Term]
id: HP:0001751
name: Abnormal vestibular function
alt_id: HP:0006917
alt_id: HP:0007921
def: "An abnormality of the functioning of the vestibular apparatus." [https://orcid.org/0000-0002-0736-9199]
comment: The vestibular apparatus is the nonauditory portion of the inner ear that mediates the subjective sensation of motion and spatial orientation of the head, adjusts muscular activity and body position to maintain posture, and stabilizes in space the fixation point of the eyes when the head moves, in order to provide a stable image upon the retina. The functioning of the vestibular system is often checked clinically by means of the caloric test, in which the head is tilted backward by about 60 degrees and either warm or cold water is introduced into the external auditory meatus on one side. The immediate results are usually vertigo, nausea, nystagmus, and twisting of the head and body.
synonym: "Impaired vestibular function" EXACT []
synonym: "Interictal vestibular dysfunction" EXACT []
synonym: "Vestibular function defect" EXACT []
xref: UMLS:C1843865
is_a: HP:0011389 ! Functional abnormality of the inner ear

[Term]
id: HP:0001756
name: Vestibular hyporeflexia
def: "A general descriptive term that describes impaired functioning of the vestibular apparatus that leads to manifestations such as dizziness or postural imbalance" [https://orcid.org/0000-0002-0736-9199, PMID:32767115]
synonym: "Vestibular deficiency" EXACT []
synonym: "Vestibular dysfunction" EXACT []
synonym: "Vestibular failure" EXACT []
synonym: "Vestibular hypofunction" EXACT []
synonym: "Vestibular hyporeflexia" EXACT []
synonym: "Vestibular loss" EXACT []
synonym: "Vestibulopathy" EXACT []
xref: UMLS:C1848606
is_a: HP:0001751 ! Abnormal vestibular function

[Term]
id: HP:0001757
name: High-frequency sensorineural hearing impairment
def: "A form of sensorineural hearing impairment that affects primarily the higher frequencies." [https://orcid.org/0000-0002-0736-9199]
synonym: "High frequency sensorineural hearing impairment" EXACT []
synonym: "High-tone sensorineural deafness" EXACT []
synonym: "High-tone sensorineural hearing impairment" EXACT []
xref: UMLS:C4021775
is_a: HP:0000407 ! Sensorineural hearing impairment

[Term]
id: HP:0001760
name: Abnormal foot morphology
alt_id: HP:0010216
alt_id: HP:0010611
def: "An abnormality of the skeleton of foot." [https://orcid.org/0000-0002-0736-9199]
comment: A disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, congenital vertical talus (rocker bottom foot), and many others.
synonym: "Abnormal feet structure" EXACT layperson []
synonym: "Abnormality of the feet" EXACT layperson []
synonym: "Abnormality of the foot" EXACT layperson []
synonym: "Foot deformities" EXACT layperson []
synonym: "Foot deformity" EXACT layperson []
xref: SNOMEDCT_US:229844004
xref: UMLS:C0016506
is_a: HP:0002814 ! Abnormality of the lower limb

[Term]
id: HP:0001761
name: Pes cavus
alt_id: HP:0008075
def: "An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight)." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
subset: hposlim_core
synonym: "Cavus foot" EXACT []
synonym: "High-arched foot" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MEDDRA:10034743 "Pes cavus"
xref: SNOMEDCT_US:205091006
xref: UMLS:C0728829
is_a: HP:0001760 ! Abnormal foot morphology

[Term]
id: HP:0001762
name: Talipes equinovarus
def: "Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg." [https://orcid.org/0000-0002-0736-9199, PMID:32491773]
comment: Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus. Fetal foot inversion refers to malposition of the foot originating during development involving inversion at the region of the metacarpals or more usually the subtalar joint and represents the prenatal sonographic equivalent of talipes equinovarus.
subset: hposlim_core
synonym: "Club feet" EXACT layperson []
synonym: "Club foot" EXACT layperson []
synonym: "Clubbing of feet" EXACT []
synonym: "Clubfeet" EXACT layperson []
synonym: "Clubfoot" EXACT layperson []
synonym: "Equinovarus" EXACT []
synonym: "Fetal foot inversion" NARROW []
synonym: "Foetal foot inversion" NARROW uk_spelling []
synonym: "Foot, talipes equinovarus" EXACT []
synonym: "Pes equinovarus" EXACT []
synonym: "Pes equinus" EXACT []
xref: Fyler:4171
xref: MEDDRA:10043106 "Talipes equinovarus, congenital"
xref: SNOMEDCT_US:249808002
xref: SNOMEDCT_US:397932003
xref: UMLS:C0009081
is_a: HP:0001883 ! Talipes

[Term]
id: HP:0001763
name: Pes planus
def: "A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
subset: hposlim_core
synonym: "Dropped arches" RELATED layperson []
synonym: "Fallen arches" RELATED layperson []
synonym: "Flat feet" EXACT layperson []
synonym: "Flat foot" EXACT layperson []
xref: SNOMEDCT_US:203534009
xref: SNOMEDCT_US:53226007
xref: UMLS:C0016202
xref: UMLS:C0264133
is_a: HP:0001760 ! Abnormal foot morphology

[Term]
id: HP:0001765
name: Hammertoe
def: "Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint." [PMID:19125433]
subset: hposlim_core
synonym: "Hammer toe" EXACT layperson []
synonym: "Hammertoe" EXACT layperson []
synonym: "Hammertoes" EXACT layperson []
xref: SNOMEDCT_US:122481008
xref: UMLS:C1136179
is_a: HP:0034398 ! Toe deformity

[Term]
id: HP:0001769
name: Broad foot
def: "A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length." [PMID:19125433]
subset: hposlim_core
synonym: "Broad feet" EXACT layperson []
synonym: "Broad foot" EXACT layperson []
synonym: "Wide foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1866241
is_a: HP:0001760 ! Abnormal foot morphology

[Term]
id: HP:0001770
name: Toe syndactyly
alt_id: HP:0001828
alt_id: HP:0005677
def: "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \"Symphalangism\"." [https://orcid.org/0000-0002-0736-9199]
synonym: "Foot syndactyly" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Fused toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Syndactyly of feet" EXACT []
synonym: "Syndactyly of toes" EXACT []
synonym: "Webbed toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:32113001
xref: UMLS:C0265660
is_a: HP:0001159 ! Syndactyly
is_a: HP:0001780 ! Abnormal toe morphology

[Term]
id: HP:0001771
name: Achilles tendon contracture
alt_id: HP:0004711
alt_id: HP:0005031
alt_id: HP:0006430
def: "A contracture of the Achilles tendon." [https://orcid.org/0000-0002-0736-9199]
synonym: "Achilles tendon contractures" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Contractures of the Achilles tendon" EXACT []
synonym: "Shortening of the achilles tendon" EXACT layperson []
synonym: "Tight achilles tendon" EXACT layperson []
xref: SNOMEDCT_US:203076007
xref: UMLS:C0410264
is_a: HP:0005109 ! Abnormality of the Achilles tendon
is_a: HP:0008366 ! Foot joint contracture

[Term]
id: HP:0001772
name: Talipes equinovalgus
def: "A deformity of foot and ankle in which the foot is bent down and outwards." [https://orcid.org/0000-0002-0736-9199]
synonym: "Equinovalgus deformity" RELATED []
xref: SNOMEDCT_US:68284008
xref: UMLS:C0265642
xref: UMLS:C4020866
is_a: HP:0001883 ! Talipes

[Term]
id: HP:0001773
name: Short foot
alt_id: HP:0001764
alt_id: HP:0001766
alt_id: HP:0001778
alt_id: HP:0008135
def: "A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective)." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
synonym: "Hypoplastic feet" EXACT []
synonym: "Short feet" EXACT layperson []
synonym: "Short foot" EXACT layperson []
synonym: "Small feet" EXACT layperson []
xref: UMLS:C1848673
is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet

[Term]
id: HP:0001775
name: Tarsal osteovalgus
xref: UMLS:C4025748
is_a: HP:0008365 ! Abnormal talus morphology

[Term]
id: HP:0001776
name: Bilateral talipes equinovarus
def: "Bilateral clubfoot deformity." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bilateral clubfeet" EXACT []
synonym: "Bilateral clubfoot" EXACT []
synonym: "Club foot on both sides" EXACT layperson []
xref: UMLS:C1837835
is_a: HP:0001762 ! Talipes equinovarus

[Term]
id: HP:0001780
name: Abnormal toe morphology
def: "An anomaly of a toe." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormalities of the toes" EXACT layperson []
synonym: "Abnormality of toe" EXACT layperson []
xref: UMLS:C2674738
is_a: HP:0001760 ! Abnormal foot morphology
is_a: HP:0011297 ! Abnormal digit morphology

[Term]
id: HP:0001782
name: Bulbous tips of toes
def: "An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025747
is_a: HP:0001780 ! Abnormal toe morphology

[Term]
id: HP:0001783
name: Broad metatarsal
alt_id: HP:0005907
alt_id: HP:0008106
def: "Increased side-to-side width of a metatarsal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad metatarsals" RELATED []
synonym: "Wide long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Widened metatarsal shaft" RELATED []
xref: UMLS:C1842231
xref: UMLS:C1850161
is_a: HP:0001832 ! Abnormal metatarsal morphology

[Term]
id: HP:0001785
name: Ankle swelling
synonym: "Ankle swelling" EXACT layperson []
xref: SNOMEDCT_US:26237000
xref: SNOMEDCT_US:267039000
xref: UMLS:C0235439
is_a: HP:0034673 ! Abnormal ankle morphology

[Term]
id: HP:0001786
name: Narrow foot
def: "A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length." [PMID:19125433]
subset: hposlim_core
synonym: "Narrow foot" EXACT layperson []
synonym: "Slender feet" EXACT layperson []
xref: SNOMEDCT_US:299464006
xref: UMLS:C0576227
is_a: HP:0001760 ! Abnormal foot morphology

[Term]
id: HP:0001787
name: Abnormal delivery
def: "An abnormality of the birth process." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal delivery" EXACT layperson []
synonym: "Delivery complication" EXACT layperson []
xref: SNOMEDCT_US:274127000
xref: UMLS:C0549629
is_a: HP:0001197 ! Abnormality of prenatal development or birth

[Term]
id: HP:0001788
name: Premature rupture of membranes
alt_id: HP:0002163
def: "Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:237266003
xref: SNOMEDCT_US:44223004
xref: UMLS:C0015944
is_a: HP:0001787 ! Abnormal delivery

[Term]
id: HP:0001789
name: Hydrops fetalis
alt_id: HP:0005099
def: "The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema." [https://orcid.org/0000-0002-0736-9199]
comment: The most common causes of hydrops fetalis are hematologic (including isoimmunization because of Rhesus incompatibility and other causes), hereditary hemolytic disorders, fetal hemorrhage, disorders of red cell production), cardiovascular disorders, infections, certain intrathoracic malformations, and idiopathic forms.
xref: SNOMEDCT_US:276508000
xref: UMLS:C0020305
is_a: HP:0000969 ! Edema
is_a: HP:0034058 ! Abnormal fetal morphology

[Term]
id: HP:0001790
name: Nonimmune hydrops fetalis
def: "A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens ." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hydrops fetalis, non-immune" EXACT []
synonym: "Hydrops fetalis, nonimmune" EXACT []
synonym: "Non-immune fetal hydrops" EXACT []
synonym: "Non-immune foetal hydrops" EXACT uk_spelling []
synonym: "Nonimmune hydrops" EXACT []
xref: SNOMEDCT_US:206538000
xref: SNOMEDCT_US:276509008
xref: UMLS:C0455988
is_a: HP:0001789 ! Hydrops fetalis

[Term]
id: HP:0001791
name: Fetal ascites
def: "Accumulation of fluid in the peritoneal cavity during the fetal period." [https://orcid.org/0000-0002-0736-9199]
synonym: "Foetal ascites" EXACT uk_spelling []
xref: SNOMEDCT_US:363125002
xref: UMLS:C1285291
is_a: HP:0001541 ! Ascites
is_a: HP:0034207 ! Abnormal fetal gastrointestinal system morphology

[Term]
id: HP:0001792
name: Small nail
alt_id: HP:0001813
def: "A nail that is diminished in length and width, i.e., underdeveloped nail." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
synonym: "Hypoplastic nail" EXACT []
synonym: "Hypoplastic nails" EXACT []
synonym: "Nail hypoplasia" EXACT []
synonym: "Small nail" EXACT layperson []
synonym: "Small nails" EXACT layperson []
xref: SNOMEDCT_US:11375002
xref: UMLS:C0263523
is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails

[Term]
id: HP:0001795
name: Hyperconvex nail
alt_id: HP:0008413
def: "When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
comment: No objective standards were identified for this finding. Another way to describe this finding is to say that the observed curve has a smaller radius than does the typical nail. The affected digits should be specified.
subset: hposlim_core
synonym: "Increased nail curvature" EXACT layperson []
synonym: "Nail overcurvature" EXACT layperson []
xref: SNOMEDCT_US:247487009
xref: UMLS:C0423807
is_a: HP:0002164 ! Nail dysplasia

[Term]
id: HP:0001798
name: Anonychia
alt_id: HP:0007593
alt_id: HP:0008384
def: "Aplasia of the nail." [https://orcid.org/0000-0002-0736-9199]
comment: Total absence of nails.
subset: hposlim_core
synonym: "Absent nails" EXACT layperson []
synonym: "Aplastic nails" EXACT layperson []
xref: SNOMEDCT_US:23610003
xref: UMLS:C0265998
is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails

[Term]
id: HP:0001799
name: Short nail
alt_id: HP:0200075
def: "Decreased length of nail." [PMID:19125433]
comment: Use this designation when the length is reduced but the width is normal.
subset: hposlim_core
synonym: "Short nail" EXACT layperson []
synonym: "Short nails" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:247488004
xref: UMLS:C0423808
is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails

[Term]
id: HP:0001800
name: Hypoplastic toenails
def: "Underdevelopment of the toenail." [https://orcid.org/0000-0002-0736-9199]
synonym: "Underdeveloped toenails" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1837279
is_a: HP:0001792 ! Small nail
is_a: HP:0010624 ! Aplastic/hypoplastic toenail

[Term]
id: HP:0001802
name: Absent toenail
def: "Congenital absence of the toenail." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Absent toenail" EXACT layperson []
synonym: "Absent toenails" RELATED layperson []
synonym: "Absent toenails (anonychia)" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Anonychia of toenails" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1844555
is_a: HP:0001798 ! Anonychia
is_a: HP:0010624 ! Aplastic/hypoplastic toenail

[Term]
id: HP:0001803
name: Nail pits
def: "Small (typically about 1 mm or less in size) depressions on the dorsal nail surface." [PMID:19125433]
subset: secondary_consequence
synonym: "Nail pits" EXACT layperson []
synonym: "Nail pitting" EXACT layperson []
synonym: "Pitted nails" EXACT layperson []
xref: MEDDRA:10028702 "Nail pitting"
xref: SNOMEDCT_US:89704006
xref: UMLS:C0150993
is_a: HP:0025757 ! Abnormal nail surface

[Term]
id: HP:0001804
name: Hypoplastic fingernail
def: "Underdevelopment of a fingernail." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small fingernail" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Underdeveloped fingernail" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1856786
is_a: HP:0001231 ! Abnormal fingernail morphology
is_a: HP:0001792 ! Small nail

[Term]
id: HP:0001805
name: Onychogryphosis
alt_id: HP:0001819
alt_id: HP:0200088
def: "Onychogryphosis is a disorder of nail plate growth that is clinically characterized by an opaque, yellow-brown thickening of the nail plate with associated gross hyperkeratosis, elongation, and increased curvature." [PMID:19125433, PMID:30410908, PMID:33021642]
comment: There is a build up of keratin causing the nail plate to lift away from the nail bed. The thickened nail plate is usually very hard. Onychauxis and onychogryposis are dystrophic diseases of the nail in which the nail plate becomes decidedly hypertrophied. The differentiation of the two entities is only one of degree of severity. The spelling onychogryposis is occasionally used but it is not correct.
synonym: "Dystrophic thickened nails" EXACT []
synonym: "Onychogryposis" EXACT []
synonym: "Thick nail" EXACT layperson []
synonym: "Thickened nails" EXACT layperson []
xref: SNOMEDCT_US:52897009
xref: UMLS:C0263537
is_a: HP:0001597 ! Abnormal nail morphology

[Term]
id: HP:0001806
name: Onycholysis
def: "Detachment of the nail from the nail bed." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Detachment of nail" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Oncholysis" EXACT []
xref: MEDDRA:10030337 "Onycholysis"
xref: SNOMEDCT_US:75789001
xref: UMLS:C0085661
is_a: HP:0025756 ! Abnormal nail attachment

[Term]
id: HP:0001807
name: Ridged nail
alt_id: HP:0001801
alt_id: HP:0001811
def: "Longitudinal, linear prominences in the nail plate." [PMID:19125433]
comment: There may be only one, or several ridges. The affected digits should be specified.
subset: hposlim_core
synonym: "Grooved nails" EXACT layperson []
synonym: "Longitudinal ridging" EXACT []
synonym: "Nail ridging" EXACT layperson []
synonym: "Ridged nails" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:271768001
xref: UMLS:C0423820
is_a: HP:0025757 ! Abnormal nail surface

[Term]
id: HP:0001808
name: Fragile nails
alt_id: HP:0001796
def: "Nails that easily break." [https://orcid.org/0000-0002-0736-9199]
synonym: "Brittle nails" EXACT layperson []
xref: UMLS:C1856963
is_a: HP:0001597 ! Abnormal nail morphology

[Term]
id: HP:0001809
name: Split nail
def: "A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature." [PMID:19125433]
comment: This is distinct from Fused nail, where the two parts of the nail have a separate radius of curvature. The affected digits should be specified as described in the introductory comments.
synonym: "Longitudinal splitting of nail" EXACT layperson []
xref: SNOMEDCT_US:85136002
xref: UMLS:C0263530
is_a: HP:0002164 ! Nail dysplasia

[Term]
id: HP:0001810
name: Dystrophic toenail
alt_id: HP:0007558
def: "Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate." [https://orcid.org/0000-0002-0736-9199]
synonym: "Dystrophic toenail changes" EXACT []
synonym: "Dystrophic toenails" RELATED []
synonym: "Poor toenail formation" EXACT layperson [http://naildystrophy.com/, https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1833225
is_a: HP:0008388 ! Abnormal toenail morphology
is_a: HP:0008404 ! Nail dystrophy

[Term]
id: HP:0001812
name: Hyperconvex fingernails
alt_id: HP:0008380
def: "When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
synonym: "Tubular fingernails" EXACT []
xref: UMLS:C1844825
is_a: HP:0001795 ! Hyperconvex nail

[Term]
id: HP:0001814
name: Deep-set nails
def: "Deeply placed nails." [https://orcid.org/0000-0002-0736-9199]
synonym: "Deep-set nails" EXACT layperson []
xref: UMLS:C3277753
is_a: HP:0002164 ! Nail dysplasia

[Term]
id: HP:0001816
name: Thin nail
def: "Nail that appears thin when viewed on end." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
comment: No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males. Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it indicates also other characteristics than thin nails, it should not be used to indicate this. The affected digits should be specified.
subset: hposlim_core
synonym: "Thin nail" EXACT layperson []
synonym: "Thin nails" EXACT layperson []
xref: SNOMEDCT_US:63829008
xref: UMLS:C0423823
is_a: HP:0001597 ! Abnormal nail morphology

[Term]
id: HP:0001817
name: Absent fingernail
def: "Absence of a fingernail." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Absent fingernail" EXACT layperson []
synonym: "Anonychia of fingernails" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Aplasia of the fingernail" EXACT []
xref: UMLS:C1844554
is_a: HP:0001798 ! Anonychia

[Term]
id: HP:0001818
name: Paronychia
def: "The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia)." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
xref: MEDDRA:10034016 "Paronychia"
xref: SNOMEDCT_US:71906005
xref: UMLS:C0030578
is_a: HP:0100803 ! Abnormal periungual morphology

[Term]
id: HP:0001820
name: Leukonychia
def: "White discoloration of the nails." [https://orcid.org/0000-0002-0736-9199]
synonym: "White discoloration of nails" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: MEDDRA:10050658 "Leukonychia"
xref: SNOMEDCT_US:111202002
xref: UMLS:C0240182
is_a: HP:0100643 ! Abnormality of nail color

[Term]
id: HP:0001821
name: Broad nail
alt_id: HP:0008406
def: "Increased width of nail." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad fingernails" EXACT layperson []
synonym: "Broad nail" EXACT layperson []
synonym: "Wide fingernails" EXACT layperson []
xref: UMLS:C1843112
is_a: HP:0002164 ! Nail dysplasia

[Term]
id: HP:0001822
name: Hallux valgus
alt_id: HP:0004682
def: "Lateral deviation of the great toe (i.e., in the direction of the little toe)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bunion" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Lateral deviation of great toe" EXACT []
synonym: "Lateral deviation of halluces" EXACT []
xref: SNOMEDCT_US:122480009
xref: SNOMEDCT_US:415692008
xref: UMLS:C0006386
xref: UMLS:C0018536
is_a: HP:0010051 ! Deviation of the hallux

[Term]
id: HP:0001824
name: Weight loss
def: "Reduction of total body weight." [https://orcid.org/0000-0002-0736-9199]
synonym: "Loss of weight" EXACT []
xref: SNOMEDCT_US:161832001
xref: SNOMEDCT_US:262285001
xref: SNOMEDCT_US:89362005
xref: UMLS:C1262477
is_a: HP:0004325 ! Decreased body weight

[Term]
id: HP:0001827
name: Genital tract atresia
alt_id: HP:0001534
def: "Congenital occlusion of a tube in the genital tract." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025746
is_a: HP:0012243 ! Abnormal reproductive system morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-27T04:08:00Z

[Term]
id: HP:0001829
name: Foot polydactyly
alt_id: HP:0009135
def: "A kind of polydactyly characterized by the presence of a supernumerary toe or toes." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Duplication of bones of the toes" EXACT layperson []
synonym: "Polydactyly of feet" EXACT []
synonym: "Polydactyly of the foot" EXACT []
xref: SNOMEDCT_US:62218008
xref: UMLS:C0158734
is_a: HP:0001780 ! Abnormal toe morphology
is_a: HP:0009136 ! Duplication involving bones of the feet
is_a: HP:0010442 ! Polydactyly

[Term]
id: HP:0001830
name: Postaxial foot polydactyly
alt_id: HP:0010346
def: "Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit." [https://orcid.org/0000-0002-0736-9199]
comment: The modifier postaxial means that the supernumerary digit is not a hallux.
synonym: "Extra toe attached near the little toe" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Fibular polydactyly" RELATED []
synonym: "Polydactyly affecting the 5th toe" EXACT []
synonym: "Postaxial polydactyly of feet" EXACT []
synonym: "Postaxial polydactyly of foot" EXACT []
synonym: "Posterior polydactyly of foot" EXACT []
xref: UMLS:C2112129
xref: UMLS:C4020865
is_a: HP:0001829 ! Foot polydactyly
is_a: HP:0010322 ! Abnormal fifth toe morphology
is_a: HP:0100259 ! Postaxial polydactyly

[Term]
id: HP:0001831
name: Short toe
alt_id: HP:0001767
alt_id: HP:0001781
alt_id: HP:0001855
alt_id: HP:0004701
alt_id: HP:0005889
alt_id: HP:0008099
def: "A toe that appears disproportionately short compared to the foot." [https://orcid.org/0000-0002-0736-9199]
comment: This finding must be distinguished from digits that are of increased girth but of normal length and that of a long mid- and hind foot with normal digit lengths. The affected digits should be specified as described in the introductory comments. Note that we designate brachydactyly as a synonym, but this use of the term is distinct from the use of the same word in Bell's classification of brachdactyly.
subset: hposlim_core
synonym: "Brachydactyly of the foot" EXACT []
synonym: "Hypoplasia of the toe" EXACT []
synonym: "Hypoplastic toes" EXACT []
synonym: "Short foot phalanges" EXACT []
synonym: "Short toe" EXACT layperson []
synonym: "Short toes" EXACT layperson []
synonym: "Stubby toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1836195
is_a: HP:0001991 ! Aplasia/Hypoplasia of toe
is_a: HP:0011927 ! Short digit

[Term]
id: HP:0001832
name: Abnormal metatarsal morphology
def: "Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025745
is_a: HP:0001760 ! Abnormal foot morphology
is_a: HP:0040069 ! Abnormal lower limb bone morphology

[Term]
id: HP:0001833
name: Long foot
alt_id: HP:0008136
alt_id: HP:0008143
def: "Increased back to front length of the foot." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Disproportionately large feet" EXACT layperson []
synonym: "large feet" EXACT layperson []
synonym: "long feet" EXACT layperson []
synonym: "Long foot" EXACT layperson []
xref: SNOMEDCT_US:299462005
xref: UMLS:C0576225
is_a: HP:0001760 ! Abnormal foot morphology

[Term]
id: HP:0001836
name: Camptodactyly of toe
def: "Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Camptodactyly of feet" EXACT []
xref: UMLS:C4021774
is_a: HP:0005830 ! Flexion contracture of toe
is_a: HP:0012385 ! Camptodactyly

[Term]
id: HP:0001837
name: Broad toe
def: "Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension." [PMID:19125433]
comment: Note that the girth may be increased in a broad toe, but this must be distinguished from Macrodactyly because in Macrodactyly the length is increased as well. The affected digit should be specified. Note that this assessment may be difficult when the toes are short. This term is not used for the first digit, see Broad hallux. If all five digits are broad, both terms should be used for that patient.
subset: hposlim_core
synonym: "Broad toe" EXACT layperson []
synonym: "Wide toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1865038
is_a: HP:0001780 ! Abnormal toe morphology

[Term]
id: HP:0001838
name: Rocker bottom foot
alt_id: HP:0001835
alt_id: HP:0004693
alt_id: HP:0010218
def: "The presence of both a prominent heel and a convex contour of the sole." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
comment: Congenital vertical talus is characterized by pes valgus, a rigid flatfoot deformity (as opposed to a flexible calcaneovalgus foot) caused by a malpositioned navicular bone at the neck of the talus; the ankle is in severe equinus and the forefoot in dorsiflexion, rocker bottom-like, accompanied by contraction of the talonavicular, deltoid and calcaneal cuboidal ligaments. The foot examination usually reveals a rigid foot with a "reversed" arch, a convex plantar surface, and a deep crease on the lateral dorsal side of the foot. The ankle joint is plantarflexed, while the midfoot and forefoot are extended upward. Lateral foot radiographs are helpful in confirming the diagnosis.
subset: hposlim_core
synonym: "Congenital vertical talus" EXACT []
synonym: "Rocker bottom feet" EXACT layperson []
synonym: "Rocker bottom foot" EXACT layperson []
synonym: "Rocker-bottom feet" EXACT layperson []
synonym: "Rockerbottom feet" EXACT layperson []
xref: MEDDRA:10066242 "Vertical talus"
xref: SNOMEDCT_US:205082007
xref: SNOMEDCT_US:205359003
xref: UMLS:C0240912
is_a: HP:0008365 ! Abnormal talus morphology

[Term]
id: HP:0001839
name: Split foot
alt_id: HP:0003062
alt_id: HP:0005904
def: "A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet." [https://orcid.org/0009-0006-4530-3154]
subset: hposlim_core
synonym: "Foot ectrodactyly" EXACT []
synonym: "Lobster-claw foot deformity" EXACT layperson []
synonym: "Split foot" EXACT layperson []
synonym: "Split-foot" EXACT layperson []
xref: SNOMEDCT_US:205358006
xref: UMLS:C0432028
is_a: HP:0001760 ! Abnormal foot morphology
is_a: HP:0100257 ! Ectrodactyly

[Term]
id: HP:0001840
name: Metatarsus adductus
alt_id: HP:0001768
alt_id: HP:0010217
def: "The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
comment: Metatarsus varus (adductus) is one of the most common foot deformities, that is defined as a transverse plane deformity in Lisfranc's (tarsometatarsal) joints in which the metatarsals are deviated medially. The relationship between talus and calcaneus is normal. On inspection the toes angle abruptly towards the midline, creating a C-shaped lateral foot border with a prominent styloid process of the 5th metatarsal. The result is that the forefoot is twisted inwards relative to the heel, so that the sole faces the midline.
subset: hposlim_core
synonym: "Forefoot varus" EXACT []
synonym: "Front half of foot turns inward" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Intoe" RELATED []
synonym: "Metatarsus adductovarsus" EXACT []
synonym: "Metatarsus varus" EXACT []
synonym: "Sickle foot" EXACT []
synonym: "Sickled feet" EXACT []
xref: SNOMEDCT_US:77599005
xref: UMLS:C0231791
xref: UMLS:C4082169
is_a: HP:0001832 ! Abnormal metatarsal morphology

[Term]
id: HP:0001841
name: Preaxial foot polydactyly
alt_id: HP:0009607
alt_id: HP:0010050
def: "Duplication of all or part of the first ray." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
comment: This term applies for a wide variety of partial and/or complete duplications of the phalanges of the big toe (sometimes including the 1st metatarsal). A partial duplication can present itself on x-rays as a notched phalanx, bifid phalanx or a broadened phalanx. Polydactyly affecting the big toe is called preaxial or hallucal polydactyly of the feet.
synonym: "Partial/complete duplication of the phalanges of the big toe" EXACT [https://orcid.org/0000-0002-0736-9199]
synonym: "Polydactyly affecting the hallux" EXACT []
synonym: "Preaxial hallucal polydactyly" EXACT []
synonym: "Preaxial polydactyly of feet" EXACT []
synonym: "Preaxial polydactyly of foot" EXACT []
synonym: "Preaxial polydactyly of the feet" EXACT [https://orcid.org/0000-0002-0736-9199]
synonym: "Preaxial polydactyly, feet" EXACT []
xref: UMLS:C1866339
xref: UMLS:C2112942
is_a: HP:0001829 ! Foot polydactyly
is_a: HP:0001844 ! Abnormal hallux morphology
is_a: HP:0100258 ! Preaxial polydactyly

[Term]
id: HP:0001842
name: Foot acroosteolysis
synonym: "Acroosteolysis of feet" EXACT []
xref: UMLS:C4025744
is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes

[Term]
id: HP:0001844
name: Abnormal hallux morphology
def: "This term applies for all abnormalities of the big toe, also called hallux." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormalities of the hallux" EXACT []
synonym: "Abnormality of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the hallux" EXACT []
xref: UMLS:C4021773
is_a: HP:0001780 ! Abnormal toe morphology

[Term]
id: HP:0001845
name: Overlapping toe
def: "Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
comment: This descriptor is ordered depending on which toes are involved. The overriding toe is labeled, as specified in the introduction (item 3): e.g., T3,4. The ordering of the numbers specifies which toe is dorsal, i.e., with dorsum of the foot facing upward the toe on top is/are recorded first separated by a comma from the digit that is/are overlapped. Toes that are laterally deviated, but do not rest on top of adjacent toes should be coded as Clinodactyly.
subset: hposlim_core
synonym: "Crossover toe" RELATED layperson []
synonym: "Overlapping toe" EXACT layperson []
synonym: "Overlapping toes" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Overriding toes" EXACT layperson []
xref: SNOMEDCT_US:203541003
xref: UMLS:C0920299
is_a: HP:0034398 ! Toe deformity

[Term]
id: HP:0001847
name: Long hallux
alt_id: HP:0001867
def: "Increased length of the big toe." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Increased length of the hallux" EXACT []
synonym: "Large halluces" EXACT []
synonym: "Long big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Long halluces" EXACT []
xref: UMLS:C1864375
is_a: HP:0001844 ! Abnormal hallux morphology
is_a: HP:0010511 ! Long toe

[Term]
id: HP:0001848
name: Calcaneovalgus deformity
alt_id: HP:0001774
alt_id: HP:0008120
def: "This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus)." [https://orcid.org/0000-0002-0736-9199]
comment: Calcaneovalgus deformity may be related to abnormal positioning of the foot in utero and can resolve spontaneously after birth.
synonym: "Calcaneovalgus" EXACT []
synonym: "Calcaneovalgus Foot" EXACT []
synonym: "Foot and ankle bend up toward shin of leg" BROAD layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Valgus position of the calcaneus" EXACT []
xref: UMLS:C1860450
is_a: HP:0008119 ! Deformed tarsal bones
is_a: HP:0008364 ! Abnormality of the calcaneus

[Term]
id: HP:0001849
name: Foot oligodactyly
alt_id: HP:0001777
def: "A developmental defect resulting in the presence of fewer than the normal number of toes." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Missing toes" EXACT layperson []
synonym: "Oligodactyly of feet" EXACT []
xref: SNOMEDCT_US:249820005
xref: UMLS:C0426934
is_a: HP:0010760 ! Absent toe
is_a: HP:0012165 ! Oligodactyly

[Term]
id: HP:0001850
name: Abnormality of the tarsal bones
def: "An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal ankle bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormal tarsals" EXACT []
xref: UMLS:C1862136
is_a: HP:0001760 ! Abnormal foot morphology
is_a: HP:0040069 ! Abnormal lower limb bone morphology

[Term]
id: HP:0001852
name: Sandal gap
def: "A widely spaced gap between the first toe (the great toe) and the second toe." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
subset: hposlim_core
synonym: "Gap between 1st and 2nd toes" EXACT layperson []
synonym: "Gap between first and second toe" EXACT layperson []
synonym: "Increased space between first and second toes" EXACT layperson []
synonym: "Sandal gap between first and second toes" EXACT layperson []
synonym: "Space between great toe and second toe" EXACT []
synonym: "Wide space between 1st, 2nd toes" EXACT layperson []
synonym: "Wide space between first and second toes" EXACT layperson []
synonym: "Wide-spaced big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Widely spaced 1st-2nd toes" EXACT layperson []
synonym: "Widely spaced first and second toes" EXACT layperson []
synonym: "Widened gap 1st-2nd toes" EXACT layperson []
synonym: "Widened gap first and second toe" EXACT layperson []
xref: UMLS:C1840069
is_a: HP:0001780 ! Abnormal toe morphology

[Term]
id: HP:0001853
name: Bifid distal phalanx of toe
alt_id: HP:0005615
synonym: "Bifid distal phalanges of toes" EXACT []
synonym: "Bifid terminal phalanx of toe" EXACT []
synonym: "Notched outermost bones of toes" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4021772
is_a: HP:0009136 ! Duplication involving bones of the feet

[Term]
id: HP:0001854
name: Podagra
def: "Gout affecting the Metatarsophalangeal joint of big toe." [https://orcid.org/0009-0006-4530-3154]
synonym: "Gout of big toe" EXACT []
xref: SNOMEDCT_US:67148009
xref: UMLS:C0221168
is_a: HP:0001760 ! Abnormal foot morphology
is_a: HP:0001997 ! Gout

[Term]
id: HP:0001857
name: Short distal phalanx of toe
def: "Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe." [PMID:19125433]
comment: This term differs from Partial absence of the toe because in that term the phalanx must be missing, whereas here it may be small, but present. Relative shortening of the distal phalanges of the toes can be harder to assess than in the fingers, as they are normally quite short. Distal phalangeal lengths can be assessed subjectively by comparing that digit segment to the rest of the digit, to other normal digits in that patient, or to typical patients of that age or build.
synonym: "Hypoplastic distal phalanges of feet" EXACT []
synonym: "Short outermost bone of toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021771
is_a: HP:0005035 ! Shortening of all phalanges of the toes
is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes

[Term]
id: HP:0001859
name: Distal foot symphalangism
alt_id: HP:0100236
xref: UMLS:C4025743
is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes
is_a: HP:0100235 ! Synostosis involving bones of the toes
is_a: HP:0100263 ! Distal symphalangism

[Term]
id: HP:0001862
name: obsolete Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet)
is_obsolete: true
replaced_by: HP:0006121

[Term]
id: HP:0001863
name: Toe clinodactyly
def: "Bending or curvature of a toe in the tibial direction (i.e., towards the big toe)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Clinodactyly of feet" EXACT []
synonym: "Toe curvature" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021770
xref: UMLS:C4280587
is_a: HP:0030084 ! Clinodactyly
is_a: HP:0100498 ! Deviation of toes

[Term]
id: HP:0001864
name: Clinodactyly of the 5th toe
def: "Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curvature of the little toe" BROAD [https://orcid.org/0000-0001-5208-3432]
synonym: "Curvature of the pinkie toe" BROAD [https://orcid.org/0000-0001-5208-3432]
synonym: "Curvature of the pinky toe" BROAD [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025741
xref: UMLS:C4280586
is_a: HP:0001863 ! Toe clinodactyly
is_a: HP:0010344 ! Deviation of the 5th toe

[Term]
id: HP:0001868
name: Autoamputation of foot
def: "The spontaneous detachment of a foot from the body due to long standing pathology." [https://orcid.org/0000-0002-0736-9199, PMID:31633102]
xref: UMLS:C4025740
is_a: HP:0001218 ! Autoamputation
is_a: HP:0001760 ! Abnormal foot morphology

[Term]
id: HP:0001869
name: Deep plantar creases
def: "The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot." [https://orcid.org/0000-0002-0736-9199]
synonym: "Deep wrinkles in soles of feet" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1857953
is_a: HP:0100872 ! Abnormality of the plantar skin of foot

[Term]
id: HP:0001870
name: Acroosteolysis of distal phalanges (feet)
synonym: "Acroosteolysis of distal phalanges of feet" EXACT []
xref: UMLS:C4025739
is_a: HP:0001842 ! Foot acroosteolysis
is_a: HP:0010189 ! Osteolytic defects of the distal phalanges of the toes

[Term]
id: HP:0001871
name: Abnormality of blood and blood-forming tissues
alt_id: HP:0003135
def: "An abnormality of the hematopoietic system." [https://orcid.org/0000-0002-0736-9199]
comment: The hematopoietic system comprises the organs that are involved in the production of blood, primarily the bone marrow, spleen, tonsils, and lymph nodes.
synonym: "Abnormality of blood and blood-forming tissues" EXACT layperson []
synonym: "Abnormality of the haematopoietic system" EXACT uk_spelling []
synonym: "Abnormality of the hematopoietic system" EXACT []
synonym: "Haematological abnormality" EXACT uk_spelling []
synonym: "Hematologic disease" RELATED []
synonym: "Hematological abnormality" EXACT []
xref: SNOMEDCT_US:191124002
xref: SNOMEDCT_US:34093004
xref: UMLS:C0018939
xref: UMLS:C0850715
xref: UMLS:C4020864
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0001872
name: Abnormality of thrombocytes
alt_id: HP:0004807
alt_id: HP:0005554
def: "An abnormality of platelets." [https://orcid.org/0000-0002-0736-9199]
comment: Platelets, also known as thrombocytes, are non-nucleated disk-shaped cells mainly involved in blood coagulation.
synonym: "Blood platelet disease" RELATED []
synonym: "Platelet abnormalities" EXACT layperson []
synonym: "Thrombasthenia" RELATED []
xref: SNOMEDCT_US:127566005
xref: SNOMEDCT_US:32942005
xref: UMLS:C0040015
xref: UMLS:C0151854
xref: UMLS:C4020863
is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues

[Term]
id: HP:0001873
name: Thrombocytopenia
alt_id: HP:0001906
alt_id: HP:0004838
alt_id: HP:0008175
alt_id: HP:0008268
alt_id: HP:0008302
def: "A reduction in the number of circulating thrombocytes." [https://orcid.org/0000-0002-0736-9199]
comment: Thrombocytopenia can be divided into three major causes; 1) low production of platelets in the bone marrow; 2) intravascular breakdown of thrombocytes; and 3) increased turnover of platelets in spleen or liver (extravascular).
synonym: "Low platelet count" EXACT layperson []
xref: SNOMEDCT_US:302215000
xref: SNOMEDCT_US:415116008
xref: UMLS:C0040034
xref: UMLS:C0392386
is_a: HP:0011873 ! Abnormal platelet count

[Term]
id: HP:0001874
name: Abnormality of neutrophils
def: "A neutrophil abnormality." [https://orcid.org/0000-0002-0736-9199, PMID:21094463, PMID:26819959]
comment: Neutrophils are the most abundant leukocytes in blood and are considered to be the first line of defense during inflammation and infections. They are myeloid granulocytes and their names is derived from the fact that their cytoplasm contains granules that stain with acidic dye as well as granules that stain with basic dye. Their nuclei consist of three to five lobes connected by slender threads of chromatin. Mature neutrophils live for approximately one day.
synonym: "Abnormality of neutrophil" EXACT []
synonym: "Abnormality of neutrophils" EXACT layperson []
synonym: "Abnormality of polymorphonuclear neutrophils" EXACT []
xref: SNOMEDCT_US:250274006
xref: UMLS:C0427515
is_a: HP:0001911 ! Abnormal granulocyte morphology

[Term]
id: HP:0001875
name: Decreased total neutrophil count
alt_id: HP:0005515
alt_id: HP:0005533
def: "Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group." [https://orcid.org/0000-0002-0736-9199, PMID:25642312]
comment: Mild neutropenia is defined as an absolute neutrophil count of less than 1500 cells per microliter of blood, moderate less than 1000 cells per microliter of blood and, and severe is less than 500 cells per microliter of blood.
synonym: "Low blood neutrophil count" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Low neutrophil count" EXACT layperson []
synonym: "Neutropenia" EXACT []
synonym: "Neutropoenia" EXACT uk_spelling []
synonym: "Peripheral neutropenia" EXACT []
xref: SNOMEDCT_US:165517008
xref: UMLS:C0853697
is_a: HP:0011991 ! Abnormal total neutrophil count

[Term]
id: HP:0001876
name: Pancytopenia
def: "An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Low blood cell count" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Pancytopaenia" EXACT uk_spelling []
xref: SNOMEDCT_US:127034005
xref: UMLS:C0030312
is_a: HP:0012145 ! Abnormality of multiple cell lineages in the bone marrow

[Term]
id: HP:0001877
name: Abnormal erythrocyte morphology
alt_id: HP:0010973
def: "Any structural abnormality of erythrocytes (red-blood cells)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of erythrocytes" EXACT []
synonym: "Abnormality of erythroid lineage cell" RELATED []
synonym: "Abnormality of red blood cells" EXACT []
xref: SNOMEDCT_US:12222001
xref: UMLS:C0391870
xref: UMLS:C4020862
is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues

[Term]
id: HP:0001878
name: Hemolytic anemia
alt_id: HP:0001910
alt_id: HP:0004827
alt_id: HP:0004853
alt_id: HP:0004868
alt_id: HP:0005503
def: "A type of anemia caused by premature destruction of red blood cells (hemolysis)." [https://orcid.org/0000-0002-0736-9199]
comment: Normally, erythrocytes survive on average about 110-120 days. With hemolysis, the erythrocyte survival is shortened, and generally increased marrow activity results in a reticulocyte count.
synonym: "Haemolytic anaemia" EXACT uk_spelling []
synonym: "Haemolytic anemia" EXACT []
synonym: "Hemolytic anaemia" EXACT uk_spelling []
synonym: "Increased hemolysis" EXACT []
xref: SNOMEDCT_US:61261009
xref: UMLS:C0002878
is_a: HP:0011895 ! Anemia due to reduced life span of red cells

[Term]
id: HP:0001879
name: Abnormal eosinophil morphology
def: "An abnormal count or structure of eosinophils." [https://orcid.org/0000-0002-0736-9199, PMID:23154224]
comment: Eosinophils stain with acidophilic dyes including eosin red. They have a bilobed nucleus, are weakly phagocytic, and are involved in the immune defense against worms. Eosinophils are released into the peripheral blood in a phenotypically mature state, and are capable of undergoing activation and recruitment into tissues in response to appropriate stimuli, most notably cytokines interleukin-5 and the eotaxins. Eosinophils spend only a brief time in the peripheral blood (half-life of about 18 hours) before they migrate to the thymus or gastrointestinal tract, where they reside under homeostatic conditions. In response to inflammatory stimuli, eosinophils develop from committed bone marrow progenitors, after which they exit, migrate into the blood and subsequently accumulate in peripheral tissues where survival is prolonged.
synonym: "Abnormality of eosinophils" EXACT []
xref: UMLS:C4025738
is_a: HP:0001911 ! Abnormal granulocyte morphology

[Term]
id: HP:0001880
name: Increased total eosinophil count
def: "Increased count of eosinophils in the blood." [https://orcid.org/0009-0006-4530-3154]
synonym: "Eosinophilia" EXACT []
synonym: "High blood eosinophil count" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Increased eosinophil count" EXACT []
xref: UMLS:C0014457
is_a: HP:0020064 ! Abnormal total eosinophil count

[Term]
id: HP:0001881
name: Abnormal leukocyte morphology
def: "An abnormality of leukocytes." [https://orcid.org/0000-0002-0736-9199]
comment: Leukocytes are nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue.
synonym: "Abnormality of leukocytes" EXACT []
xref: SNOMEDCT_US:134199001
xref: SNOMEDCT_US:24827003
xref: UMLS:C0152009
is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues
is_a: HP:0010987 ! Abnormal cellular immune system morphology

[Term]
id: HP:0001882
name: Decreased total leukocyte count
def: "An abnormal decreased number of leukocytes in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased blood leukocyte number" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Leukopenia" EXACT []
synonym: "Low white blood cell count" EXACT layperson []
xref: SNOMEDCT_US:84828003
xref: UMLS:C0023530
is_a: HP:0011893 ! Abnormal leukocyte count

[Term]
id: HP:0001883
name: Talipes
def: "A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus." [https://orcid.org/0009-0006-4530-3154]
comment: Talipes means (a deformity of) foot and ankle. There are four types of talipes. (1) Talipes equinovarus - the foot is pointing inwards and down (the most common form), (2) Talipes equinovalgus - where the foot points outwards and down, (3) Talipes calcaneovarus - where the foot points inwards and up, (4) Talipes calcaneovalgus - where the foot points inwards and down.
synonym: "Talipes foot deformities" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:398309008
xref: UMLS:C1301937
xref: UMLS:C3552713
is_a: HP:0005656 ! Positional foot deformity

[Term]
id: HP:0001884
name: Talipes calcaneovalgus
def: "Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an \"up and out\" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg." [https://orcid.org/0000-0002-0736-9199]
synonym: "Pes calcaneovarus" EXACT []
xref: SNOMEDCT_US:205083002
xref: SNOMEDCT_US:31668003
xref: UMLS:C0152237
is_a: HP:0001883 ! Talipes

[Term]
id: HP:0001885
name: Short 2nd toe
def: "Underdevelopment (hypoplasia) of the second toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Short second toe" EXACT layperson []
xref: UMLS:C4021769
is_a: HP:0001831 ! Short toe

[Term]
id: HP:0001886
name: Foot osteomyelitis
def: "An infection of bone of the foot." []
synonym: "Foot bone infection" EXACT layperson []
xref: UMLS:C4025737
is_a: HP:0001760 ! Abnormal foot morphology
is_a: HP:0002754 ! Osteomyelitis

[Term]
id: HP:0001888
name: Decreased total lymphocyte count
def: "A reduced number of lymphocytes in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absolute lymphocyte count decrease" EXACT []
synonym: "Decreased blood lymphocyte number" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Low lymphocyte number" EXACT layperson [https://orcid.org/0000-0001-7941-2961]
synonym: "Lymphocytopenia" EXACT []
synonym: "Lymphopenia" EXACT []
xref: SNOMEDCT_US:48813009
xref: UMLS:C0024312
is_a: HP:0040088 ! Abnormal lymphocyte count

[Term]
id: HP:0001889
name: Megaloblastic anemia
alt_id: HP:0004858
def: "Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts)." [https://orcid.org/0000-0002-0736-9199]
comment: Megaloblastic anemia can result from folic acid deficiency or vitamin B12 deficiency. Folate deficiency leads to an impairment of DNA synthesis such that the cell cycle cannot progress from the G2 growth stage to the mitosis stage, in turn leading to continuing cell growth without division, which presents as macrocytosis.
synonym: "Megaloblastic anaemia" EXACT uk_spelling []
xref: SNOMEDCT_US:53165003
xref: UMLS:C0002888
is_a: HP:0001972 ! Macrocytic anemia

[Term]
id: HP:0001890
name: Autoimmune hemolytic anemia
def: "An autoimmune form of hemolytic anemia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Autoimmune haemolytic anaemia" EXACT uk_spelling []
synonym: "Autoimmune haemolytic anemia" EXACT []
synonym: "Autoimmune hemolytic anaemia" EXACT uk_spelling []
synonym: "Hemolytic anemia, autoimmune" EXACT []
xref: SNOMEDCT_US:413603009
xref: UMLS:C0002880
is_a: HP:0001878 ! Hemolytic anemia
is_a: HP:0002960 ! Autoimmunity

[Term]
id: HP:0001891
name: Iron deficiency anemia
synonym: "Ferropenic" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Iron deficiency anaemia" EXACT uk_spelling []
synonym: "Iron-deficiency anaemia" EXACT uk_spelling []
synonym: "Iron-deficiency anemia" EXACT []
xref: SNOMEDCT_US:87522002
xref: UMLS:C0162316
is_a: HP:0001931 ! Hypochromic anemia

[Term]
id: HP:0001892
name: Abnormal bleeding
alt_id: HP:0004830
alt_id: HP:0004834
alt_id: HP:0004849
alt_id: HP:0004862
alt_id: HP:0004865
alt_id: HP:0008183
def: "An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects." [https://orcid.org/0000-0002-0736-9199]
comment: This term is kept for historical reasons. If possible, a more exact description of the phenotype (i.e., whether there is a vascular, platelet and coagulation defect) should be attempted.
synonym: "Bleeding diathesis" EXACT []
synonym: "Bleeding tendency" EXACT layperson []
synonym: "Hemorrhagic diathesis" EXACT []
xref: SNOMEDCT_US:248250000
xref: SNOMEDCT_US:64779008
xref: UMLS:C1458140
is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues

[Term]
id: HP:0001894
name: Thrombocytosis
def: "Increased numbers of platelets in the peripheral blood." [https://orcid.org/0000-0002-0736-9199]
comment: Thrombocythemia and thrombocytosis are conditions with a higher than normal number of platelets. The term "thrombocythemia" is preferred when the cause of a high platelet count isn't known. The condition sometimes is called primary or essential thrombocythemia.
synonym: "Increased number of platelets in blood" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Increased platelet count" EXACT []
synonym: "Thrombocythaemia" RELATED []
synonym: "Thrombocythemia" RELATED []
xref: SNOMEDCT_US:415115007
xref: SNOMEDCT_US:6631009
xref: UMLS:C0836924
xref: UMLS:C0857460
is_a: HP:0011873 ! Abnormal platelet count

[Term]
id: HP:0001895
name: Normochromic anemia
synonym: "Normochromic anaemia" EXACT uk_spelling []
xref: UMLS:C0235983
is_a: HP:0010972 ! Anemia of inadequate production

[Term]
id: HP:0001896
name: Reticulocytopenia
def: "A reduced number of reticulocytes in the peripheral blood." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:124961001
xref: UMLS:C0858867
is_a: HP:0004312 ! Abnormal reticulocyte morphology

[Term]
id: HP:0001897
name: Normocytic anemia
def: "A kind of anemia in which the volume of the red blood cells is normal." [https://orcid.org/0000-0002-0736-9199]
comment: In normocytic anemia, the mean corpuscular volume (MCV) is within normal limits (80-100 fl in adults).
synonym: "Normocytic anaemia" EXACT uk_spelling []
xref: SNOMEDCT_US:300980002
xref: UMLS:C0085577
is_a: HP:0010972 ! Anemia of inadequate production

[Term]
id: HP:0001898
name: Increased red blood cell mass
def: "The presence of an increased mass of red blood cells in the circulation." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased RBC mass" EXACT abbreviation []
xref: UMLS:C1853288
is_a: HP:0001901 ! Polycythemia

[Term]
id: HP:0001899
name: Increased hematocrit
def: "An elevation above the normal ratio of the volume of red blood cells to the total volume of blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased Hct" EXACT abbreviation []
xref: UMLS:C0239935
is_a: HP:0031850 ! Abnormal hematocrit

[Term]
id: HP:0001900
name: Increased circulating hemoglobin concentration
alt_id: HP:0020063
def: "Concentration of hemoglobin in the blood circulation above the upper limit of normal." []
synonym: "Increased haemoglobin" EXACT uk_spelling []
synonym: "Increased haemoglobin concentration" EXACT uk_spelling []
synonym: "Increased Hb" EXACT abbreviation []
synonym: "Increased Hb concentration" EXACT abbreviation []
synonym: "Increased hemoglobin" EXACT []
synonym: "Increased hemoglobin concentration" EXACT []
xref: SNOMEDCT_US:131141003
xref: UMLS:C0549448
is_a: HP:0001901 ! Polycythemia
is_a: HP:0020061 ! Abnormal hemoglobin concentration

[Term]
id: HP:0001901
name: Polycythemia
alt_id: HP:0001893
def: "Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormally shaped erythrocytes" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Erythrocytosis" EXACT []
synonym: "Increased red blood cells" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Polyglobulia" EXACT []
xref: SNOMEDCT_US:109992005
xref: SNOMEDCT_US:127062003
xref: UMLS:C0032461
xref: UMLS:C1527405
is_a: HP:0001877 ! Abnormal erythrocyte morphology

[Term]
id: HP:0001902
name: Giant platelets
def: "Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998)." [https://orcid.org/0000-0002-0736-9199]
comment: This phenotype may be present in myelodysplastic or myeloproliferative diseases and autoimmune thrombocytopenia (associated with severe leukemoid reactions). It may also be present in inherited diseases such as Bernard-Soulier syndrome or May-Hegglin anomaly.
xref: SNOMEDCT_US:44687006
xref: UMLS:C0333864
is_a: HP:0011877 ! Increased mean platelet volume

[Term]
id: HP:0001903
name: Anemia
alt_id: HP:0001926
alt_id: HP:0003136
alt_id: HP:0005509
def: "A reduction in erythrocytes volume or hemoglobin concentration." [https://orcid.org/0000-0002-0736-9199]
comment: Anemia is not a specific entity but can result from many underlying pathologic processes. The three main causes of anemia are blood loss, decreased or faulty red blood cell production, and increased destruction of red blood cells. Various classifications are in clinical use including a classification according to the mean corpuscular volume (MCV) of the erythrocytes: microcytic, macrocytic, or normocytic. Anemias can also be classified according to variations in cell size and shape, as reflected by the red-cell distribution width (RDW). Additionally, anemias can be classified into those of inadequate production and hemolytic anemias.
synonym: "Anaemia" EXACT []
synonym: "Decreased haemoglobin" RELATED uk_spelling []
synonym: "Decreased hemoglobin" RELATED []
synonym: "Low number of red blood cells or haemoglobin" EXACT uk_spelling []
synonym: "Low number of red blood cells or hemoglobin" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:165397008
xref: SNOMEDCT_US:271737000
xref: UMLS:C0002871
xref: UMLS:C0162119
is_a: HP:0001877 ! Abnormal erythrocyte morphology

[Term]
id: HP:0001904
name: Autoimmune neutropenia
def: "Abnormal decrease of the absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group, accompanied by the detection of anti-neutrophil antibodies." [https://orcid.org/0000-0002-0736-9199, PMID:25642312]
comment: The antibodies are directed against the cell surface membrane and have no relationship with antineutrophil cytoplasmic antibodies (ANCAs) in the vast majority of cases. It is important to highlight that there are frequent difficulties in the detection of autoantibodies causing AIN due to the labile nature of granulocytes (not storable without activation and consequent autolysis). This type of neutropenia is commonly seen with autoimmune neutropenia of infancy (AIN), also called primary autoimmune neutropenia, is a disease in which antibodies recognize membrane antigens of neutrophils, mostly located on immunoglobulin G (IgG) Fc receptor type 3b (Fc-gamma-IIIb receptor), causing their peripheral destruction.
synonym: "Neutropenia in presence of anti-neutropil antibodies" EXACT []
xref: SNOMEDCT_US:234425008
xref: UMLS:C0340971
is_a: HP:0001875 ! Decreased total neutrophil count
is_a: HP:0002960 ! Autoimmunity

[Term]
id: HP:0001905
name: Congenital thrombocytopenia
alt_id: HP:0004869
def: "Thrombocytopenia with congenital onset." [https://orcid.org/0000-0002-0736-9199]
synonym: "thrombocytopenia, congenital" EXACT []
xref: UMLS:C0272278
is_a: HP:0001873 ! Thrombocytopenia

[Term]
id: HP:0001907
name: Thromboembolism
def: "The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site." [https://orcid.org/0000-0002-0736-9199]
synonym: "Blood clot in blood vessel" EXACT [http://purl.obolibrary.org/obo/hp#layperson, https://orcid.org/0000-0002-6548-5200]
synonym: "Embolism and thrombosis" RELATED []
synonym: "Thromboembolic disease" EXACT []
synonym: "Thromboembolic events" EXACT []
xref: SNOMEDCT_US:13713005
xref: SNOMEDCT_US:371039008
xref: UMLS:C0040038
xref: UMLS:C0085307
is_a: HP:0001977 ! Abnormal thrombosis

[Term]
id: HP:0001908
name: Hypoplastic anemia
def: "Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic anaemia" EXACT uk_spelling []
xref: SNOMEDCT_US:167923006
xref: SNOMEDCT_US:41614006
xref: UMLS:C0178416
is_a: HP:0010972 ! Anemia of inadequate production

[Term]
id: HP:0001909
name: Leukemia
alt_id: HP:0005519
alt_id: HP:0006726
def: "A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes." [https://orcid.org/0000-0002-0736-9199, NCIT:C3161]
synonym: "Blood cancer" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Leukaemia" EXACT uk_spelling []
xref: SNOMEDCT_US:129154003
xref: SNOMEDCT_US:269475001
xref: SNOMEDCT_US:87163000
xref: SNOMEDCT_US:93143009
xref: UMLS:C0023418
xref: UMLS:C0376545
is_a: HP:0001881 ! Abnormal leukocyte morphology
is_a: HP:0004377 ! Hematological neoplasm

[Term]
id: HP:0001911
name: Abnormal granulocyte morphology
alt_id: HP:0005438
def: "Any structural abnormality or abnormal count of granulocytes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of granulocytes" EXACT []
xref: SNOMEDCT_US:250274006
xref: UMLS:C0427515
is_a: HP:0010974 ! Abnormal myeloid leukocyte morphology

[Term]
id: HP:0001912
name: Abnormal basophil morphology
def: "Any structural abnormality or abnormal count of basophils." [https://orcid.org/0000-0002-0736-9199, PMID:24075190]
comment: Basophils are myeoloid granulocytes and part of the innate immune system. They represent the least abundant granulocyte population in mammals. They have a complex, almost C-shaped nucleus. Their granules stain blue with basic dye. They are not phagacytic. They are involved in the immune response to worms. Their cell surface has Fc receptors which may be attached to class E antibodies.
synonym: "Abnormality of basophils" EXACT []
xref: UMLS:C4025736
is_a: HP:0001911 ! Abnormal granulocyte morphology

[Term]
id: HP:0001913
name: Decreased total granulocyte count
def: "Abnormal decrease of absolute number of granulocytes in the blood, per microliter, compared to a reference range for a given sex and age-group." [https://orcid.org/0000-0002-0736-9199]
synonym: "Granulocytopenia" EXACT []
xref: SNOMEDCT_US:17182001
xref: SNOMEDCT_US:417672002
xref: UMLS:C0001824
is_a: HP:0032309 ! Abnormal granulocyte count

[Term]
id: HP:0001915
name: Aplastic anemia
def: "Aplastic anemia is defined as pancytopenia with a hypocellular marrow." [https://orcid.org/0000-0002-0736-9199, PMID:21239768]
comment: Aplastic anemia is characterized by reduced numbers of all blood cell types (red blood cells, white blood cells, and platelets) owing to reduced production.
synonym: "Aplastic anaemia" EXACT uk_spelling []
xref: SNOMEDCT_US:304132006
xref: SNOMEDCT_US:306058006
xref: UMLS:C0002874
is_a: HP:0001876 ! Pancytopenia

[Term]
id: HP:0001917
name: Renal amyloidosis
def: "A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856)." [https://orcid.org/0000-0002-0736-9199, PMID:25852856]
comment: In the kidney, amyloid deposits may be found in any of the parenchymal compartments, including glomeruli, tubules, interstitium and/or vessels. Glomeruli are most commonly involved. In most instances, amyloid accumulation involves the mesangium before the capillary walls. In early cases, the process can be subtle and involves only a few mesangial regions and therefore can easily be missed by routine histologic evaluation. More extensive involvement results in marked expansion of the mesangium, which can take on a nodular appearance and mimic mesangial sclerotic processes such as diabetic glomerulosclerosis. However, the often negative staining with PAS and JMS is more typical of amyloid.
xref: SNOMEDCT_US:48713002
xref: UMLS:C0268382
is_a: HP:0011034 ! Amyloidosis
is_a: HP:0012210 ! Abnormal renal morphology

[Term]
id: HP:0001919
name: Acute kidney injury
def: "Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia)." [https://orcid.org/0000-0002-0736-9199]
comment: Acute renal failure is usually classified into prerenal (response to severe volume depletion), intrinsic (response to acute cytotoxic, ischemic, or inflammatory insults) and postrenal (response to obstruction of the passage of urine) etiologies.
synonym: "Acute kidney failure" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Acute renal failure" EXACT []
synonym: "AKI" EXACT abbreviation []
xref: SNOMEDCT_US:14350001000004108
xref: SNOMEDCT_US:14669001
xref: UMLS:C0022660
xref: UMLS:C2609414
is_a: HP:0000083 ! Renal insufficiency

[Term]
id: HP:0001920
name: Renal artery stenosis
def: "The presence of stenosis of the renal artery." [https://orcid.org/0000-0002-0736-9199]
synonym: "Narrowing of kidney artery" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: Fyler:2634
xref: SNOMEDCT_US:282664001
xref: SNOMEDCT_US:302233006
xref: UMLS:C0035067
is_a: HP:0008776 ! Abnormal renal artery morphology
is_a: HP:0100545 ! Arterial stenosis

[Term]
id: HP:0001922
name: Vacuolated lymphocytes
alt_id: HP:0008147
alt_id: HP:0008329
def: "The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm." [https://orcid.org/0000-0002-0736-9199, PMID:20633042]
comment: Vacuolated lymphocytes occur most commonly as the peripheral blood manifestation of inherited metabolic disorders, including Niemann-Pick disease Type A, infantile sialic acid storage disorder, Wolman's disease, Mucolipidoses II and III, Salla disease, mannosidosis, Batten disease, GM1 gangliosidosis, neuraminidase deficiency, galactosidosis, fucosidosis, Pompe's disease, aspartylglycosaminuria and rarely, multiple sulfatase deficiency. The metabolic product, which causes vacuolation, depends on the specific enzyme deficiency.
synonym: "Enlarged lysosomal vacuoles in lymphocytes" EXACT []
synonym: "Vacuolated blood lymphocytes" EXACT []
xref: UMLS:C1836855
is_a: HP:0004332 ! Abnormal lymphocyte morphology

[Term]
id: HP:0001923
name: Reticulocytosis
def: "An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased immature red blood cells" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Increased number of immature red blood cells" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Increased reticulocyte count" EXACT []
synonym: "Increased reticulocytes" EXACT []
xref: SNOMEDCT_US:46049004
xref: UMLS:C0206160
is_a: HP:0004312 ! Abnormal reticulocyte morphology

[Term]
id: HP:0001924
name: Sideroblastic anemia
alt_id: HP:0100791
def: "Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining)." [https://orcid.org/0000-0002-0736-9199]
comment: Sideroblastic anemia may be either congenital or acquired. In sideroblastic anemia, the hematocrit tends to be around 20 to 30 percent, and the mean corpuscular volume is normal or low.
synonym: "Hypersideremic anaemia" EXACT uk_spelling []
synonym: "Hypersideremic anemia" EXACT []
synonym: "Sideroblastic anaemia" EXACT uk_spelling []
xref: SNOMEDCT_US:41841004
xref: UMLS:C0002896
is_a: HP:0010972 ! Anemia of inadequate production

[Term]
id: HP:0001927
name: Acanthocytosis
alt_id: HP:0005552
def: "Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Acanthocytes" EXACT []
synonym: "Red cell acanthocytosis" EXACT []
xref: SNOMEDCT_US:250249008
xref: UMLS:C0687751
is_a: HP:0004447 ! Poikilocytosis

[Term]
id: HP:0001928
name: Abnormality of coagulation
def: "An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal blood coagulation studies" EXACT []
synonym: "Blood coagulation disorder" RELATED []
synonym: "Coagulation abnormalities" EXACT []
synonym: "Coagulation abnormality" EXACT []
synonym: "Haemorrhagic disorders" EXACT [https://orcid.org/0009-0006-4530-3154]
xref: SNOMEDCT_US:362970003
xref: SNOMEDCT_US:64779008
xref: UMLS:C0005779
xref: UMLS:C0019087
xref: UMLS:C1846821
is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues

[Term]
id: HP:0001929
name: Reduced factor XI activity
def: "Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX." [https://orcid.org/0000-0002-0736-9199]
synonym: "Factor XI deficiency" RELATED []
synonym: "Low factor XI activity" EXACT []
xref: SNOMEDCT_US:49762007
xref: UMLS:C0015523
is_a: HP:0010989 ! Abnormality of the intrinsic pathway

[Term]
id: HP:0001930
name: Nonspherocytic hemolytic anemia
synonym: "Nonspherocytic hemolytic anaemia" EXACT uk_spelling []
xref: UMLS:C4025735
is_a: HP:0001878 ! Hemolytic anemia

[Term]
id: HP:0001931
name: Hypochromic anemia
def: "A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes." [https://orcid.org/0000-0002-0736-9199]
comment: The low concentration of hemoglobin in the erythrocytes causes them to be abnormally pale, i.e., to have less color (be hypochromic).
synonym: "Hypochromic anemia" EXACT []
xref: SNOMEDCT_US:44452003
xref: UMLS:C0002884
is_a: HP:0010972 ! Anemia of inadequate production

[Term]
id: HP:0001933
name: Subcutaneous hemorrhage
def: "This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses)." [https://orcid.org/0000-0002-0736-9199]
comment: Purpura measure 0.3-1 cm (3-10 mm), whereas petechiae measure less than 3 mm, and ecchymoses greater than 1 cm.
synonym: "Bleeding below the skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Subcutaneous haemorrhage" EXACT uk_spelling []
xref: UMLS:C0854107
is_a: HP:0001892 ! Abnormal bleeding
is_a: HP:0011276 ! Vascular skin abnormality
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-28T07:14:00Z

[Term]
id: HP:0001934
name: Persistent bleeding after trauma
alt_id: HP:0007463
synonym: "Excessive bleeding after minor trauma" EXACT layperson []
synonym: "Frequent bleeding with trauma" EXACT layperson []
synonym: "Prolonged bleeding after minor trauma" EXACT layperson []
xref: UMLS:C1844374
is_a: HP:0001892 ! Abnormal bleeding

[Term]
id: HP:0001935
name: Microcytic anemia
def: "A kind of anemia in which the volume of the red blood cells is reduced." [https://orcid.org/0000-0002-0736-9199]
comment: In normocytic anemia, the mean corpuscular volume (MCV) is below normal limits (>80 fl in adults).
synonym: "Microcytic anaemia" EXACT uk_spelling []
xref: SNOMEDCT_US:234349007
xref: UMLS:C0085576
is_a: HP:0010972 ! Anemia of inadequate production

[Term]
id: HP:0001937
name: Microangiopathic hemolytic anemia
synonym: "Microangiopathic hemolytic anaemia" EXACT uk_spelling []
xref: SNOMEDCT_US:51071000
xref: UMLS:C0221021
is_a: HP:0001878 ! Hemolytic anemia

[Term]
id: HP:0001939
name: Abnormality of metabolism/homeostasis
alt_id: HP:0002146
alt_id: HP:0004355
alt_id: HP:0004367
synonym: "Laboratory abnormality" EXACT layperson []
synonym: "Metabolism abnormality" EXACT layperson []
xref: UMLS:C4021768
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0001941
name: Acidosis
alt_id: HP:0001940
def: "Abnormal acid accumulation or depletion of base." [https://orcid.org/0000-0002-0736-9199, PMID:24381489]
comment: When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis.
xref: SNOMEDCT_US:51387008
xref: UMLS:C0001122
is_a: HP:0004360 ! Abnormality of acid-base homeostasis

[Term]
id: HP:0001942
name: Metabolic acidosis
alt_id: HP:0004895
alt_id: HP:0004907
def: "Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause." [https://orcid.org/0000-0002-0736-9199, PMID:17936961, PMID:31418093]
comment: The Henderson-Hasselbalch method defines metabolic acidosis by the presence of an acid-base imbalance associated with a plasma bicarbonate concentration below 20 mmol/L. The association of this imbalance with decreased pH is called acidemia, which is often described as severe when the pH is equal to or below 7.20. Arterial blood gas measurements can be performed in patients with a decreased plasma bicarbonate level so as to eliminate respiratory alkalosis, confirm the diagnosis of metabolic acidosis, and test for mixed acidosis.
xref: SNOMEDCT_US:59455009
xref: UMLS:C0220981
is_a: HP:0001941 ! Acidosis

[Term]
id: HP:0001943
name: Hypoglycemia
alt_id: HP:0003356
def: "A decreased concentration of glucose in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoglycaemia" EXACT []
synonym: "Low blood sugar" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:237630007
xref: SNOMEDCT_US:271327008
xref: SNOMEDCT_US:302866003
xref: UMLS:C0020615
is_a: HP:0011015 ! Abnormal blood glucose concentration

[Term]
id: HP:0001944
name: Dehydration
synonym: "Dehydration" EXACT layperson []
synonym: "Exsiccosis" EXACT []
xref: SNOMEDCT_US:34095006
xref: UMLS:C0011175
is_a: HP:0011032 ! Abnormality of fluid regulation

[Term]
id: HP:0001945
name: Fever
def: "Body temperature elevated above the normal range." [https://orcid.org/0009-0006-4530-3154, PMID:9759682]
comment: Fever has been defined as a state of elevated core temperature, which is often, but not necessarily, part of the defensive responses of multicellular organisms (host) to the invasion of live (microorganisms) or inanimate matter recognized as pathogenic or alien by the host. The febrile response (of which fever is a component) is a complex physiologic reaction to disease, involving a cytokine-mediated rise in core temperature, generation of acute phase reactants, and activation of numerous physiologic, endocrinologic, and immunologic systems. The rise in temperature during fever is to be distinguished from that occurring during episodes of hyperthermia. Unlike fever, hyperthermia involves an unregulated rise in body temperature in which pyrogenic cytokines are not directly involved and against which standard antipyretics are ineffective. It represents a failure of thermoregulatory homeostasis, in which there is uncontrolled heat production, inadequate heat dissipation, or defective hypothalamic thermoregulation.
synonym: "Fever" EXACT layperson []
synonym: "Hyperthermia" EXACT []
synonym: "Pyrexia" EXACT []
xref: SNOMEDCT_US:386661006
xref: SNOMEDCT_US:50177009
xref: UMLS:C0015967
is_a: HP:0004370 ! Abnormality of temperature regulation

[Term]
id: HP:0001946
name: Ketosis
alt_id: HP:0003543
def: "Presence of elevated levels of ketone bodies in the body." [https://orcid.org/0000-0002-0736-9199, PMID:28278308]
comment: Ketone bodies are formed from acetyl-CoA in the liver by ketogenesis when the liver glycogen stores are depleted. Ketone bodies are acidic, and ketoacidosis ensues if the compensatory mechanisms are overloaded. The predominant ketones being acetoacetate, acetone, and beta-hydroxybutyrate.
synonym: "High levels of ketone bodies" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Hyperketosis" EXACT []
xref: SNOMEDCT_US:213281004
xref: SNOMEDCT_US:2538008
xref: UMLS:C0022638
xref: UMLS:C0235430
is_a: HP:0001939 ! Abnormality of metabolism/homeostasis

[Term]
id: HP:0001947
name: Renal tubular acidosis
def: "Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Accumulation of acid in body due to kidney problem" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:1776003
xref: UMLS:C0001126
is_a: HP:0000124 ! Renal tubular dysfunction
is_a: HP:0001942 ! Metabolic acidosis

[Term]
id: HP:0001948
name: Alkalosis
def: "Depletion of acid or accumulation base in the body fluids." [https://orcid.org/0000-0002-0736-9199, PMID:24381489]
comment: When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis.
xref: SNOMEDCT_US:21420006
xref: UMLS:C0002063
is_a: HP:0004360 ! Abnormality of acid-base homeostasis

[Term]
id: HP:0001949
name: Hypokalemic alkalosis
xref: SNOMEDCT_US:22774003
xref: UMLS:C0085570
is_a: HP:0001948 ! Alkalosis

[Term]
id: HP:0001950
name: Respiratory alkalosis
def: "Alkalosis due to excess loss of carbon dioxide from the body." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:111378004
xref: UMLS:C0002064
is_a: HP:0001948 ! Alkalosis

[Term]
id: HP:0001951
name: Episodic ammonia intoxication
xref: UMLS:C1839541
is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration

[Term]
id: HP:0001952
name: Glucose intolerance
alt_id: HP:0000833
def: "Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM)." [PMID:29763085]
synonym: "Abnormal glucose tolerance" BROAD []
synonym: "Glucose intolerance" EXACT layperson []
xref: UMLS:C0235401
is_a: HP:0011014 ! Abnormal glucose homeostasis

[Term]
id: HP:0001953
name: Diabetic ketoacidosis
alt_id: HP:0008253
def: "A type of diabetic metabolic abnormality with an accumulation of ketone bodies." [https://orcid.org/0000-0002-0736-9199]
synonym: "Diabetic ketosis" EXACT []
xref: SNOMEDCT_US:420422005
xref: UMLS:C0011880
is_a: HP:0000819 ! Diabetes mellitus
is_a: HP:0001993 ! Ketoacidosis

[Term]
id: HP:0001954
name: Recurrent fever
alt_id: HP:0004903
alt_id: HP:0005962
alt_id: HP:0005966
alt_id: HP:0005980
def: "Periodic (episodic or recurrent) bouts of fever." [https://orcid.org/0000-0002-0736-9199]
synonym: "Episodic fever" EXACT layperson []
synonym: "Hyperthermia, episodic" EXACT []
synonym: "Increased body temperature, episodic" EXACT layperson []
synonym: "Intermittent fever" EXACT layperson []
xref: SNOMEDCT_US:77957000
xref: UMLS:C0277799
is_a: HP:0001945 ! Fever

[Term]
id: HP:0001955
name: Unexplained fevers
def: "Episodes of fever for which no infectious cause can be identified." [https://orcid.org/0000-0002-0736-9199]
synonym: "Unexplained fevers" EXACT layperson []
xref: UMLS:C1844662
is_a: HP:0001945 ! Fever

[Term]
id: HP:0001956
name: Truncal obesity
alt_id: HP:0008885
def: "Obesity located preferentially in the trunk of the body as opposed to the extremities." [https://orcid.org/0000-0002-0736-9199]
synonym: "Centripetal obesity" EXACT []
synonym: "Truncal obesity" EXACT layperson []
xref: SNOMEDCT_US:248311001
xref: UMLS:C0311277
is_a: HP:0001513 ! Obesity

[Term]
id: HP:0001958
name: Nonketotic hypoglycemia
xref: UMLS:C1865292
is_a: HP:0001943 ! Hypoglycemia

[Term]
id: HP:0001959
name: Polydipsia
def: "Excessive thirst manifested by excessive fluid intake." []
synonym: "Extreme thirst" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:17173007
xref: SNOMEDCT_US:267026004
xref: UMLS:C0085602
is_a: HP:0030082 ! Abnormal drinking behavior

[Term]
id: HP:0001960
name: Hypokalemic metabolic alkalosis
xref: UMLS:C0740898
is_a: HP:0001949 ! Hypokalemic alkalosis
is_a: HP:0200114 ! Metabolic alkalosis

[Term]
id: HP:0001961
name: Hypoplastic heart
synonym: "Small heart" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Underdeveloped heart" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C3151525
is_a: HP:0001627 ! Abnormal heart morphology

[Term]
id: HP:0001962
name: Palpitations
alt_id: HP:0001676
def: "A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Heart palpitations" EXACT []
synonym: "Missed heart beat" EXACT layperson []
synonym: "Palpitations" EXACT layperson []
synonym: "Skipped heart beat" EXACT layperson []
xref: SNOMEDCT_US:80313002
xref: UMLS:C0030252
is_a: HP:0011675 ! Arrhythmia

[Term]
id: HP:0001963
name: Abnormal speech discrimination
def: "A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal speech discrimination" EXACT layperson []
synonym: "Poor speech discrimination" EXACT layperson []
xref: UMLS:C1836752
is_a: HP:0000364 ! Hearing abnormality

[Term]
id: HP:0001964
name: Aplasia/Hypoplasia of metatarsal bones
def: "Absence or underdevelopment of the metatarsal bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent or hypoplastic metatarsal" EXACT []
synonym: "Absent/hypoplastic metacarpals" EXACT []
synonym: "Absent/hypoplastic metatarsals" EXACT []
synonym: "Absent/small long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Aplastic/hypoplastic metatarsals" EXACT []
xref: UMLS:C1860182
is_a: HP:0001832 ! Abnormal metatarsal morphology
is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet

[Term]
id: HP:0001965
name: Abnormal scalp morphology
def: "Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows." [https://orcid.org/0000-0002-0736-9199]
comment: The scalp of the head has the following five layers: 1) skin and head hair; 2) connective tissue; 3) the aponeurosis (a layer of dense fibrous tissue); 4) loose areolar connective tissue; and 5) the periosteum of the skull bones.
synonym: "Abnormality of the scalp" EXACT layperson []
synonym: "Anomaly of scalp" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025734
is_a: HP:0000234 ! Abnormality of the head

[Term]
id: HP:0001966
name: Abnormal glomerular mesangium morphology
def: "An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries." [https://orcid.org/0000-0002-0736-9199, PMID:19470685, PMID:20828589]
comment: Mesangial cells constitute the central stalk of the glomerulus and are in continuity with the extraglomerular mesangium and the juxtaglomerular apparatus. They have contractile properties generated by anchoring filaments to glomerular basement membrane opposite podocyte foot processes and at the paramesangial angles, thereby assisting in the maintenance of capillary organization and convolution. On the capillary lumen side, mesangial cells are in direct contact with endothelial cells without an intervening basement membrane.
synonym: "Abnormality glomerular mesangium morphology" EXACT []
synonym: "Abnormality of the glomerular mesangium" EXACT []
synonym: "Mesangial abnormality" EXACT []
xref: UMLS:C4025733
is_a: HP:0000095 ! Abnormal renal glomerulus morphology

[Term]
id: HP:0001967
name: Diffuse mesangial sclerosis
alt_id: HP:0004728
def: "Thickening and scarring (sclerosis) of the mesangium (a structure in the glomerulus). The sclerosis affects a large portion of the mesangium across multiple glomeruli. Histologic features include an increase in the mesangial matrix, thickened glomerular basement membrane, tubular casts, and interstitial inflammation. Diffuse mesangial sclerosis presents with nephrotic syndrome at birth or within the first year of life. Glomeruli are small and condensed in appearance, with early lesions showing increased loose mesangial collagen that progress to sclerosis with dense collagen without hypercellularity. Podocytes do not show hyperplasia but may be immature and cobblestone-like. Electron microscopy shows extensive foot process effacement without deposits, but increased collagen within mesangial areas." [https://orcid.org/0000-0002-0736-9199, PMID:26408240]
synonym: "Diffuse mesangial sclerosis glomerulopathy" EXACT []
synonym: "Mesangial sclerosis" EXACT []
xref: SNOMEDCT_US:111406002
xref: UMLS:C0268747
is_a: HP:0001966 ! Abnormal glomerular mesangium morphology

[Term]
id: HP:0001969
name: Abnormal tubulointerstitial morphology
alt_id: HP:0008654
def: "An abnormality that involves the tubules and interstitial tissue of the kidney." [https://orcid.org/0000-0002-0736-9199]
synonym: "Tubulointerstitial abnormality" EXACT []
synonym: "Tubulointerstitial nephropathy" RELATED []
xref: SNOMEDCT_US:28689008
xref: SNOMEDCT_US:428255004
xref: UMLS:C0041349
xref: UMLS:C4025732
is_a: HP:0000091 ! Abnormal renal tubule morphology
is_a: HP:0032581 ! Abnormal renal insterstitial morphology

[Term]
id: HP:0001970
name: Tubulointerstitial nephritis
def: "A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules." [https://orcid.org/0000-0002-0736-9199]
synonym: "Interstitial nephritis" EXACT []
synonym: "Nephritis, Tubulointerstitial" EXACT []
xref: SNOMEDCT_US:28689008
xref: SNOMEDCT_US:428255004
xref: UMLS:C0041349
is_a: HP:0001969 ! Abnormal tubulointerstitial morphology

[Term]
id: HP:0001971
name: Hypersplenism
def: "A malfunctioning of the spleen in which it prematurely destroys red blood cells." [https://orcid.org/0000-0002-0736-9199]
comment: The spleen normally functions to remove senescent red blood cells (RBCs) from the circulation. Hypersplenism represents a pathological acceleration of this function, resulting in the premature removal from the circulation of RBCs and other cellular components of the blood, often accompanied by an increase in size of the spleen (splenomegaly).
xref: SNOMEDCT_US:58381000
xref: UMLS:C0020532
is_a: HP:0025409 ! Abnormal spleen physiology

[Term]
id: HP:0001972
name: Macrocytic anemia
def: "A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH)." [https://orcid.org/0000-0002-0736-9199, PMID:19202968]
comment: The causes of macrocytosis can be broadly classified as megaloblastic and nonmegaloblastic. Megaloblastic processes are characterized on the peripheral smear by macroovalocytes and hypersegmented neutrophils, which are absent in nonmegaloblastic macrocytic processes. Nonmegaloblastic processes have round macrocytes or macroreticulocytes.
synonym: "Macrocytic anaemia" EXACT uk_spelling []
xref: SNOMEDCT_US:83414005
xref: UMLS:C0002886
is_a: HP:0010972 ! Anemia of inadequate production

[Term]
id: HP:0001973
name: Autoimmune thrombocytopenia
alt_id: HP:0001936
alt_id: HP:0004806
alt_id: HP:0004829
def: "The presence of thrombocytopenia in combination with detection of antiplatelet antibodies." [https://orcid.org/0000-0002-7744-1790]
comment: Autoimmune thrombocytopenia is causes by accelerated destruction of auto-antibody sensitized platelets in the reticular-endothelial system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Drug-induced autoimmune thrombocytopenia, and autoimmune thrombocytopenia following viral infection.
synonym: "Idiopathic thrombocytopenia" EXACT []
synonym: "Idiopathic thrombocytopenic purpura" RELATED []
synonym: "Immune thrombocytopenia" EXACT []
xref: SNOMEDCT_US:128091003
xref: SNOMEDCT_US:13172003
xref: SNOMEDCT_US:234490009
xref: SNOMEDCT_US:32273002
xref: UMLS:C0242584
xref: UMLS:C0398650
xref: UMLS:C0920163
is_a: HP:0001873 ! Thrombocytopenia
is_a: HP:0002960 ! Autoimmunity

[Term]
id: HP:0001974
name: Increased total leukocyte count
def: "An abnormal increase in the number of leukocytes in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Elevated white blood count" EXACT layperson []
synonym: "High white blood count" EXACT layperson []
synonym: "Increased blood leukocyte number" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Leukocytosis" EXACT []
xref: SNOMEDCT_US:111583006
xref: UMLS:C0023518
is_a: HP:0011893 ! Abnormal leukocyte count

[Term]
id: HP:0001975
name: Decreased platelet glycoprotein IIb-IIIa
def: "Decreased cell membrane concentration of glycoprotein IIb-IIIa." [https://orcid.org/0000-0002-7744-1790]
comment: The glycoprotein IIb-IIIa is an integrin complex found on platelets that acts a receptor for fibrinogen and aids in platelet activation.
synonym: "Glanzmann thrombasthenia" RELATED []
synonym: "Reduced level of platelet glycoprotein IIb/IIIa complex" EXACT []
xref: SNOMEDCT_US:32942005
xref: UMLS:C0040015
xref: UMLS:C4021767
is_a: HP:0011878 ! Abnormal platelet membrane protein expression

[Term]
id: HP:0001976
name: Reduced antithrombin III activity
def: "An abnormality of coagulation related to a decreased concentration of antithrombin-III." [https://orcid.org/0000-0002-0736-9199]
comment: Antithrombin III (ATIII) inhibits the coagulation cascade by lysing thrombin and factor Xa. The defective inhibition of the coagulation cascade is associated with an increased risk of venous and arterial thrombosis. The physiological target proteases of antithrombin are those of the intrinsic pathway, namely the activated forms of Factor X, Factor IX, Factor XI, Factor XII, and, to a greater extent, Factor II (thrombin), and also the activated form of Factor VII (VIIa) from the the extrinsic pathway.
synonym: "Anti-thrombin III deficiency" EXACT []
synonym: "Antithrombin III deficiency" EXACT []
synonym: "Decreased antithrombin III" EXACT []
xref: SNOMEDCT_US:36351005
xref: UMLS:C0272375
is_a: HP:0010988 ! Abnormality of the extrinsic pathway
is_a: HP:0010989 ! Abnormality of the intrinsic pathway

[Term]
id: HP:0001977
name: Abnormal thrombosis
def: "Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal blood clot" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Abnormal blood clotting" EXACT []
xref: UMLS:C4025731
is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues

[Term]
id: HP:0001978
name: Extramedullary hematopoiesis
alt_id: HP:0004847
def: "The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms." [https://orcid.org/0000-0002-0736-9199, PMID:27377325, PMID:28101170]
comment: During fetal life, the formation of cellular blood components occurs mainly in the liver, shifting to the bone marrow postnatally. Some pathological conditions associated with a severe reduction of marrow hematopoiesis are associated with extramedullary hematopoiesis. The most common causes of Extramedullary hematopoieses (EMH) are myelofibrosis, diffuse osseous metastatic disease replacing the bone marrow, leukemia, sickle-cell anemia, and thalassemia. EMH is usually microscopic and asymptomatic, but it can sometimes manifest as organomegaly and tumor-like masses. Rarely, it can cause cord compression, pleural effusion, massive hemothorax, and respiratory failure.
synonym: "Extramedullary erythropoiesis" RELATED []
xref: SNOMEDCT_US:124958002
xref: SNOMEDCT_US:42952007
xref: UMLS:C1292120
xref: UMLS:C2613439
is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues

[Term]
id: HP:0001980
name: Megaloblastic bone marrow
def: "Abnormal increased number of megaloblasts in the bone marrow." [https://orcid.org/0000-0002-0736-9199]
comment: A megaloblast is an abnormally large nucleated red blood cell found especially in people with pernicious anemia. Megaloblasts, like their normal counterparts, normoblasts, are immature red cell precursors in the bone marrow. Megaloblasts display both a larger size than normoblasts as well as a fine reticular nuclear structure.
xref: SNOMEDCT_US:167921008
xref: UMLS:C0238801
is_a: HP:0012145 ! Abnormality of multiple cell lineages in the bone marrow

[Term]
id: HP:0001981
name: Schistocytosis
def: "The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Schistocytes" EXACT []
xref: SNOMEDCT_US:385472000
xref: UMLS:C0344386
is_a: HP:0004447 ! Poikilocytosis

[Term]
id: HP:0001982
name: Sea-blue histiocytosis
def: "An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa." [https://orcid.org/0000-0002-0736-9199, PMID:8797061]
synonym: "Sea-blue histiocyte" EXACT []
xref: SNOMEDCT_US:37821003
xref: UMLS:C0036489
is_a: HP:0004311 ! Abnormal macrophage morphology

[Term]
id: HP:0001983
name: Reduced lymphocyte surface expression of CD43
def: "A reduction in the expression of CD43 on the cell surface of lymphocytes." [https://orcid.org/0000-0002-0736-9199]
comment: CD43 is a cell-surface sialoglycoprotein that is expressed, typically at high levels, on all leukocytes except most resting B lymphocytes.
synonym: "Cd43 defectively expressed on surface of blood cells" EXACT []
synonym: "Reduced lymphocyte surface expression of sialophorin" EXACT []
xref: UMLS:C4021766
is_a: HP:0031383 ! Abnormal lymphocyte surface marker expression

[Term]
id: HP:0001984
name: Intolerance to protein
xref: UMLS:C1396243
is_a: HP:0012537 ! Food intolerance

[Term]
id: HP:0001985
name: Hypoketotic hypoglycemia
alt_id: HP:0005969
def: "A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies." [https://orcid.org/0000-0002-0736-9199]
comment: Normally, decreased glucose production leads to increased mitochondrial fatty acid beta-oxidation and the production of ketones. Thus, ketones provide an indication of whether the hypoglycemia is a result of inadequate production or overutilization of glucose (which tends to be associated with low plasma ketone levels). Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism. A good starting point for evaluating hypoglycemia is to divide patients into ketotic or non-ketotic. Normal physiologic response to decreased glucose production is increased mitochondrial fatty acid beta-oxidation and the production of ketones. Ketones provide an indirect indication of whether hypoglycemia is the result of inadequate production or of over-utilization of glucose (insulin-induced over-utilization, associated with low urine or plasma ketones). The history of the relationship of the hypoglycemia to feeding is often helpful. Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism. Patients with defects in glycogen breakdown, gluconeogenesis, or fatty acid oxidation tend to tolerate short-term fasting much better.
synonym: "Hypoglycemia, hypoketotic" EXACT []
xref: UMLS:C1856438
is_a: HP:0001943 ! Hypoglycemia

[Term]
id: HP:0001986
name: Hypertonic dehydration
synonym: "Hyperosmolar dehydration" EXACT []
xref: UMLS:C1112601
is_a: HP:0001944 ! Dehydration

[Term]
id: HP:0001987
name: Hyperammonemia
alt_id: HP:0008308
alt_id: HP:0008334
def: "An increased concentration of ammonia in the blood." [HPO_CONTRIBUTOR:gcarletti]
synonym: "High blood ammonia levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:9360008
xref: UMLS:C0220994
is_a: HP:0002157 ! Azotemia

[Term]
id: HP:0001988
name: Recurrent hypoglycemia
def: "Recurrent episodes of decreased concentration of glucose in the blood." [HPO_CONTRIBUTOR:gcarletti]
synonym: "hypoglycaemia, recurrent" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "hypoglycemia, recurrent" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Hypoglycemic episodes" EXACT []
synonym: "Recurrent hypoglycaemia" EXACT []
synonym: "Recurrent hypoglycemic episodes" EXACT []
synonym: "Recurrent low blood sugar levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1846288
is_a: HP:0001943 ! Hypoglycemia

[Term]
id: HP:0001989
name: Fetal akinesia sequence
def: "Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia)." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Early severe fetal akinesia sequence" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Early severe foetal akinesia sequence" RELATED uk_spelling []
synonym: "Fetal akinesia" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Foetal akinesia" RELATED uk_spelling []
synonym: "Foetal akinesia sequence" EXACT uk_spelling []
xref: SNOMEDCT_US:401138005
xref: UMLS:C1276035
xref: UMLS:C3151520
is_a: HP:0001558 ! Decreased fetal movement

[Term]
id: HP:0001991
name: Aplasia/Hypoplasia of toe
def: "Absence or hypoplasia of toes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/hypoplastic toes" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Absent/small toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Aplastic/hypoplastic toe phalanges" EXACT []
xref: UMLS:C3551148
is_a: HP:0001780 ! Abnormal toe morphology
is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet

[Term]
id: HP:0001992
name: Organic aciduria
def: "Excretion of non-amino organic acids in urine." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C0241775
is_a: HP:0012072 ! Aciduria

[Term]
id: HP:0001993
name: Ketoacidosis
def: "Acidosis resulting from accumulation of ketone bodies." [https://orcid.org/0000-0002-0736-9199]
comment: Ketoacidosis can result from diabetes, alcoholic ketoacidosis, prolonged fasting, as well as several hereditary diseases of metabolism.
xref: SNOMEDCT_US:56051008
xref: UMLS:C0220982
is_a: HP:0001941 ! Acidosis
is_a: HP:0001946 ! Ketosis

[Term]
id: HP:0001994
name: Renal Fanconi syndrome
def: "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water." [https://orcid.org/0000-0002-0736-9199]
synonym: "De toni-fanconi-debre syndrome" EXACT []
synonym: "Renal tubular fanconi syndrome" EXACT []
xref: SNOMEDCT_US:236468006
xref: SNOMEDCT_US:44673006
xref: UMLS:C0341703
is_a: HP:0001947 ! Renal tubular acidosis
is_a: HP:0011038 ! Abnormal renal tubular resorption

[Term]
id: HP:0001995
name: Hyperchloremic acidosis
def: "Acidosis (pH less than 7.35) that develops with an increase in ionic chloride." [PMID:29493965]
xref: SNOMEDCT_US:18104000
xref: UMLS:C0085569
is_a: HP:0001941 ! Acidosis

[Term]
id: HP:0001996
name: Chronic metabolic acidosis
def: "Longstanding metabolic acidosis." [https://orcid.org/0000-0002-0736-9199, PMID:15882309]
comment: Severe chronic metabolic acidosis has two well-recognized major systemic consequences. First, metabolic acidosis, or acidemia, induces increased protein catabolism, decreased protein synthesis, and negative nitrogen and total body protein balance, which improve upon bicarbonate supplementation. Second, metabolic acidosis causes physicochemical dissolution of bone and cell-mediated bone resorption by inhibition of osteoblast and stimulation of osteoclast function.
xref: UMLS:C0740749
is_a: HP:0001942 ! Metabolic acidosis
is_a: HP:0012468 ! Chronic acidosis

[Term]
id: HP:0001997
name: Gout
alt_id: HP:0001368
def: "Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues." [https://orcid.org/0009-0006-4530-3154]
synonym: "Gouty arthritis" EXACT []
xref: SNOMEDCT_US:170733007
xref: SNOMEDCT_US:190828008
xref: SNOMEDCT_US:48440001
xref: SNOMEDCT_US:90560007
xref: UMLS:C0003868
xref: UMLS:C0018099
is_a: HP:0001369 ! Arthritis

[Term]
id: HP:0001998
name: Neonatal hypoglycemia
synonym: "Low blood sugar in newborn" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:52767006
xref: UMLS:C0158986
is_a: HP:0001943 ! Hypoglycemia

[Term]
id: HP:0001999
name: Abnormal facial shape
alt_id: HP:0002004
alt_id: HP:0002260
alt_id: HP:0004643
alt_id: HP:0004649
alt_id: HP:0004652
alt_id: HP:0004655
alt_id: HP:0004675
alt_id: HP:0005124
def: "An abnormal morphology (form) of the face or its components." [https://orcid.org/0000-0002-9602-2321]
comment: This term now covers many of the historical inexact descriptions such as Bird-like facies that probably should be avoided in modern genetics. This portion of the Ontology should be revised.
subset: hposlim_core
synonym: "Abnormal facial shape" EXACT layperson []
synonym: "Abnormal morphology of the face" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of face" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Distinctive facies" EXACT []
synonym: "Distortion of face" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Dysmorphic facial features" EXACT []
synonym: "Dysmorphic facies" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Facial dysmorphism" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Funny looking face" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of face" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Unusual facial appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Unusual facies" EXACT []
xref: SNOMEDCT_US:248200007
xref: SNOMEDCT_US:32003007
xref: SNOMEDCT_US:398206004
xref: SNOMEDCT_US:398302004
xref: UMLS:C0266617
xref: UMLS:C0424503
xref: UMLS:C1385263
xref: UMLS:C4072832
xref: UMLS:C4072833
is_a: HP:0000271 ! Abnormality of the face

[Term]
id: HP:0002000
name: Short columella
def: "Reduced distance from the anterior border of the naris to the subnasale." [PMID:19152422]
comment: This is often accompanied by a Depressed nasal tip but this should be assessed and coded separately. The term Absent columella has been deleted because a columella is thought to always be present, except in Single naris and Proboscis.
subset: hposlim_core
synonym: "Columella, short" EXACT []
synonym: "Decreased length of columella" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplasia of columella" RELATED [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1857479
xref: UMLS:C4280585
is_a: HP:0009929 ! Abnormal columella morphology

[Term]
id: HP:0002002
name: Deep philtrum
alt_id: HP:0000305
alt_id: HP:0004654
def: "Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border." [PMID:19152422]
comment: Some have used the term depressed philtrum, suggesting the presence of normal philtral ridges with a deeper groove, while admitting the difficulty in distinguishing this from prominent ridges with a normal philtral groove. We are unaware of a truly deepened philtral groove with normal height of the ridges.
subset: hposlim_core
synonym: "Depressed philtrum" RELATED []
synonym: "Increased depth of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Philtrum, deep" EXACT []
synonym: "Prominent philtrum" EXACT []
synonym: "Pronounced philtrum" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1839797
xref: UMLS:C4020861
is_a: HP:0000288 ! Abnormality of the philtrum

[Term]
id: HP:0002003
name: Large forehead
synonym: "Hyperplasia of forehead" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypertrophy of forehead" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased size of forehead" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased size of frontal region of face" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Large forehead" EXACT layperson []
xref: UMLS:C1839783
xref: UMLS:C4280583
xref: UMLS:C4280584
is_a: HP:0000290 ! Abnormal forehead morphology

[Term]
id: HP:0002006
name: Tessier cleft
def: "A congenital malformation with a cleft (gap or opening) in the face." [https://orcid.org/0000-0002-0736-9199]
comment: The categories of facial cleft (subterms) correspond to Tessier, P (1976) Classification of rare craniofacial clefts, Journal of Maxillofacial Surgery; 4:69-92. There exists a competing classification system by Van der Meulen that divides different types of clefts based on where the development arrest occurs in the embryogenesis. The HPO uses the Tessier classification because it is based on phenotype rather than pathophysiological considerations.
subset: hposlim_core
synonym: "Cleft of the face" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Facial cleft" EXACT layperson []
synonym: "Facial clefts" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Tessier facial cleft" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:92821006
xref: UMLS:C0685787
is_a: HP:0000271 ! Abnormality of the face
is_a: HP:5201015 ! Craniofacial cleft

[Term]
id: HP:0002007
name: Frontal bossing
alt_id: HP:0000254
alt_id: HP:0000333
alt_id: HP:0001358
alt_id: HP:0001359
def: "Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline." [PMID:19125436]
comment: This is not the same as prominent forehead.
subset: hposlim_core
synonym: "Frontal protuberance" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Skull bossing" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:90145001
xref: UMLS:C0221354
is_a: HP:0000290 ! Abnormal forehead morphology
is_a: HP:0011218 ! Abnormal shape of the frontal region

[Term]
id: HP:0002009
name: Potter facies
def: "A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose." [https://orcid.org/0000-0002-0736-9199]
comment: Potter sequence is a sequence of events resulting from oligohydramnios due to any of a number of causes such as bilateral renal agenesis. Affected fetuses often have a characteristic facial appearance.
xref: SNOMEDCT_US:24814002
xref: UMLS:C0266619
is_a: HP:0011334 ! Facial shape deformation

[Term]
id: HP:0002010
name: Narrow maxilla
synonym: "Decreased breadth of upper jaw bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased transverse dimension of maxilla" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased width of maxilla" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased width of upper jaw bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Narrow upper jaw bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Transverse hypoplasia of maxilla" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Transverse maxillary deficiency" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Transverse maxillary insufficiency" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1851835
is_a: HP:0000326 ! Abnormal maxilla morphology

[Term]
id: HP:0002011
name: Morphological central nervous system abnormality
alt_id: HP:0002405
alt_id: HP:0002413
alt_id: HP:0002481
alt_id: HP:0007319
def: "A structural abnormality of the central nervous system." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the central nervous system" EXACT []
synonym: "Central nervous system disease" RELATED []
synonym: "Morphological abnormality of the central nervous system" EXACT []
synonym: "Morphological abnormality of the CNS" EXACT abbreviation []
xref: SNOMEDCT_US:23853001
xref: UMLS:C0007682
xref: UMLS:C4021765
is_a: HP:0012639 ! Abnormal nervous system morphology

[Term]
id: HP:0002012
name: Abnormality of the abdominal organs
def: "An abnormality of the viscera of the abdomen." [https://orcid.org/0000-0002-0736-9199]
comment: The abdominal organs comprise the stomach, small and large intestines, liver, pancreas, bile tract, and spleen.
synonym: "Abnormality of the abdominal organs" EXACT layperson []
synonym: "Gastrointestinal tract defects" EXACT []
xref: UMLS:C4021764
is_a: HP:0025031 ! Abnormality of the digestive system

[Term]
id: HP:0002013
name: Vomiting
def: "Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Emesis" EXACT []
synonym: "Throwing up" EXACT layperson []
synonym: "Vomiting" EXACT layperson []
xref: MEDDRA:10047700 "Vomiting"
xref: SNOMEDCT_US:249497008
xref: SNOMEDCT_US:300359004
xref: SNOMEDCT_US:422400008
xref: UMLS:C0042963
is_a: HP:0002017 ! Nausea and vomiting

[Term]
id: HP:0002014
name: Diarrhea
def: "Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day." [https://orcid.org/0000-0002-0736-9199]
synonym: "Diarrhea" EXACT layperson []
synonym: "Diarrhoea" EXACT uk_spelling []
synonym: "Watery stool" EXACT layperson []
xref: SNOMEDCT_US:267060006
xref: SNOMEDCT_US:62315008
xref: UMLS:C0011991
is_a: HP:0011458 ! Abdominal symptom

[Term]
id: HP:0002015
name: Dysphagia
alt_id: HP:0002569
def: "Difficulty in swallowing." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Deglutition disorder" RELATED []
synonym: "Difficulty swallowing" EXACT []
synonym: "Poor swallowing" EXACT layperson []
synonym: "Swallowing difficulties" EXACT layperson []
synonym: "Swallowing difficulty" EXACT layperson []
xref: MEDDRA:10013950 "Dysphagia"
xref: SNOMEDCT_US:288939007
xref: SNOMEDCT_US:40739000
xref: UMLS:C0011168
is_a: HP:0012638 ! Abnormal nervous system physiology
is_a: HP:0025270 ! Abnormal esophagus physiology

[Term]
id: HP:0002017
name: Nausea and vomiting
def: "Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea." [PMID:26770271]
synonym: "Nausea and vomiting" EXACT layperson []
xref: SNOMEDCT_US:16932000
xref: UMLS:C0027498
is_a: HP:0011458 ! Abdominal symptom

[Term]
id: HP:0002018
name: Nausea
def: "A sensation of unease in the stomach together with an urge to vomit." [https://orcid.org/0000-0002-0736-9199, PMID:26770271]
subset: hposlim_core
synonym: "Nausea" EXACT layperson []
xref: MEDDRA:10028813 "Nausea"
xref: SNOMEDCT_US:422587007
xref: UMLS:C0027497
is_a: HP:0002017 ! Nausea and vomiting

[Term]
id: HP:0002019
name: Constipation
alt_id: HP:0002241
alt_id: HP:0003786
def: "Infrequent or difficult evacuation of feces." [https://orcid.org/0000-0002-0736-9199]
synonym: "Constipation" EXACT layperson []
synonym: "Costiveness" EXACT []
synonym: "Dyschezia" EXACT []
xref: SNOMEDCT_US:14760008
xref: SNOMEDCT_US:225595004
xref: UMLS:C0009806
xref: UMLS:C0237326
is_a: HP:0011458 ! Abdominal symptom

[Term]
id: HP:0002020
name: Gastroesophageal reflux
alt_id: HP:0004793
def: "A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Acid reflux" EXACT layperson []
synonym: "Acid reflux disease" EXACT layperson []
synonym: "Gastro-esophageal reflux" EXACT []
synonym: "Gastro-oesophageal reflux" EXACT uk_spelling []
synonym: "Gastroesophageal reflux disease" EXACT []
synonym: "GERD" EXACT abbreviation [https://orcid.org/0000-0002-5316-1399]
synonym: "GORD" EXACT abbreviation []
synonym: "Heartburn" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:16331000
xref: SNOMEDCT_US:235595009
xref: SNOMEDCT_US:698065002
xref: UMLS:C0017168
xref: UMLS:C0018834
is_a: HP:0025270 ! Abnormal esophagus physiology

[Term]
id: HP:0002021
name: Pyloric stenosis
def: "Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss." [https://orcid.org/0000-0002-0736-9199, PMID:32310391]
comment: Pyloric stenosis occurs in the first few months of life.
subset: hposlim_core
synonym: "Infantile hypertrophic pyloric stenosis" EXACT []
synonym: "Pylorus stenosis" EXACT []
xref: Fyler:4444
xref: MEDDRA:10037621 "Pyloric stenosis"
xref: SNOMEDCT_US:367403001
xref: UMLS:C0034194
is_a: HP:0004400 ! Abnormality of the pylorus

[Term]
id: HP:0002023
name: Anal atresia
alt_id: HP:0001550
def: "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Absent anus" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Imperforate anus" RELATED []
xref: Fyler:4402
xref: Fyler:4443
xref: MEDDRA:10002120 "Anal atresia"
xref: SNOMEDCT_US:204712000
xref: SNOMEDCT_US:204731006
xref: UMLS:C0003466
is_a: HP:0034915 ! Abnormal anus morphology

[Term]
id: HP:0002024
name: Malabsorption
alt_id: HP:0008270
def: "Impaired ability to absorb one or more nutrients from the intestine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Intestinal malabsorption" EXACT layperson []
synonym: "Malabsorption" EXACT layperson []
xref: UMLS:C3714745
is_a: HP:0025032 ! Abnormality of digestive system physiology

[Term]
id: HP:0002025
name: Anal stenosis
def: "Abnormal narrowing of the anal opening." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Narrowing of anal opening" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: MEDDRA:10002176 "Anal stenosis"
xref: SNOMEDCT_US:250037002
xref: SNOMEDCT_US:69914001
xref: UMLS:C0262374
is_a: HP:0034915 ! Abnormal anus morphology

[Term]
id: HP:0002027
name: Abdominal pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen." [https://orcid.org/0000-0002-0736-9199]
comment: Abdominal pain can be crampy, achy, dull, intermittent or sharp. The terms stomach ache and stomach cramps are nonmedical terms often used to describe pain in the mid- or upper abdominal area, even though it is not the case that the (smooth) muscles of the stomach or the abdomen have cramps. Stomach pain is another layperson term commonly used to refer to abdominal pain.
subset: hposlim_core
synonym: "Abdominal discomfort" RELATED layperson []
synonym: "Abdominal pain" EXACT layperson []
synonym: "Gastro pain" BROAD layperson []
synonym: "Gastrointestinal pain" BROAD layperson []
synonym: "Pain in stomach" EXACT layperson []
synonym: "Stomach pain" EXACT layperson [https://orcid.org/0000-0002-0736-9199]
synonym: "Upset stomach" RELATED layperson [https://orcid.org/0000-0001-6439-2224]
xref: MEDDRA:10000081 "Abdominal pain"
xref: SNOMEDCT_US:21522001
xref: UMLS:C0000737
is_a: HP:0011458 ! Abdominal symptom
is_a: HP:0012531 ! Pain

[Term]
id: HP:0002028
name: Chronic diarrhea
def: "The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks." [https://orcid.org/0000-0002-0736-9199]
synonym: "Chronic diarrhea" EXACT layperson []
synonym: "Chronic diarrhoea" EXACT uk_spelling []
synonym: "Diarrhea, recurrent" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Recurrent diarrhea" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Recurrent diarrhoea" RELATED uk_spelling []
xref: SNOMEDCT_US:236071009
xref: UMLS:C0401151
is_a: HP:0002014 ! Diarrhea

[Term]
id: HP:0002031
name: Abnormal esophagus morphology
def: "A structural abnormality of the esophagus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal oesophagus morphology" EXACT uk_spelling []
synonym: "Abnormality of esophagus structure" EXACT layperson []
synonym: "Abnormality of oesophagus structure" EXACT uk_spelling []
synonym: "Anomaly of the esophagus" EXACT []
synonym: "Anomaly of the oesophagus" EXACT uk_spelling []
xref: SNOMEDCT_US:69771008
xref: UMLS:C0266126
is_a: HP:0012718 ! Abnormal gastrointestinal tract morphology

[Term]
id: HP:0002032
name: Esophageal atresia
def: "A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach." [https://orcid.org/0000-0002-0736-9199]
synonym: "Birth defect in which part of esophagus did not develop" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Birth defect in which part of oesophagus did not develop" EXACT uk_spelling []
xref: Fyler:4412
xref: SNOMEDCT_US:26179002
xref: UMLS:C0014850
is_a: HP:0002031 ! Abnormal esophagus morphology
is_a: HP:0002589 ! Gastrointestinal atresia

[Term]
id: HP:0002033
name: Poor suck
def: "An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed." [https://orcid.org/0000-0002-0736-9199]
synonym: "Poor suck" EXACT layperson []
synonym: "Poor sucking" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Sucking weakness" EXACT []
xref: UMLS:C1837142
is_a: HP:0008872 ! Feeding difficulties in infancy

[Term]
id: HP:0002034
name: Abnormal rectum morphology
def: "An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the rectum" EXACT layperson []
synonym: "Anomaly of the rectum" EXACT layperson []
xref: SNOMEDCT_US:86993003
xref: UMLS:C0266210
is_a: HP:0002250 ! Abnormal large intestine morphology
is_a: HP:0012732 ! Anorectal anomaly

[Term]
id: HP:0002035
name: Rectal prolapse
def: "Protrusion of the rectal mucous membrane through the anus." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Rectal prolapsed" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Rectum protrudes through anus" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MEDDRA:10038077 "Rectal prolapse"
xref: SNOMEDCT_US:57773001
xref: UMLS:C0034888
is_a: HP:0002034 ! Abnormal rectum morphology

[Term]
id: HP:0002036
name: Hiatus hernia
def: "The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus." [https://orcid.org/0000-0002-0736-9199]
comment: A tendency for the upper part of the stomach to herniate into the thorax because of a weakness of the esophageal hiatus, which is the hole in the diaphragm through which the esophagus passes. Hiatus hernia can be asymptomatic or can lead to acid reflux symptoms (heartburn).
subset: hposlim_core
synonym: "Hiatal hernia" EXACT []
synonym: "Stomach hernia" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: MEDDRA:10020028 "Hiatus hernia"
xref: SNOMEDCT_US:84089009
xref: UMLS:C3489393
is_a: HP:0002577 ! Abnormal stomach morphology
is_a: HP:0100790 ! Hernia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-20T11:28:00Z

[Term]
id: HP:0002037
name: Inflammation of the large intestine
def: "Inflammation, or an inflammatory state in the large intestine." []
synonym: "Inflammation of the large intestine" EXACT layperson []
synonym: "Inflammatory bowel disease" RELATED layperson []
xref: SNOMEDCT_US:24526004
xref: SNOMEDCT_US:302168000
xref: UMLS:C0021390
xref: UMLS:C0578878
is_a: HP:0002250 ! Abnormal large intestine morphology
is_a: HP:0004386 ! Gastrointestinal inflammation

[Term]
id: HP:0002038
name: Protein avoidance
xref: UMLS:C1839531
is_a: HP:0011458 ! Abdominal symptom

[Term]
id: HP:0002039
name: Anorexia
def: "Anorexia, or the loss of appetite for food, is a medical condition." []
comment: Please note that this term does not refer to the condition of anorexia nervosa, which is a disorder characterized by an obsessive desire to lose weight by refusing to eat.
synonym: "Anorexia" EXACT layperson []
synonym: "Deliberately not eating" EXACT []
synonym: "Obsessive dieting" EXACT []
synonym: "Refusing to eat" EXACT []
xref: SNOMEDCT_US:79890006
xref: UMLS:C0003123
is_a: HP:0011458 ! Abdominal symptom
is_a: HP:0040202 ! Abnormal consumption behavior
property_value: terms:contributor https://orcid.org/0000-0001-6624-2975
property_value: terms:contributor https://orcid.org/0000-0002-2984-1124
property_value: terms:contributor https://orcid.org/0000-0002-4691-7362
property_value: terms:contributor https://orcid.org/0000-0002-6581-7754
property_value: terms:contributor https://orcid.org/0000-0002-7674-1767
property_value: terms:contributor https://orcid.org/0000-0003-2598-6622
property_value: terms:contributor https://orcid.org/0000-0003-4014-4490

[Term]
id: HP:0002040
name: Esophageal varix
def: "Extreme dilation of the submucusoal veins in the lower portion of the esophagus." [https://orcid.org/0000-0002-0736-9199]
comment: Esophageal varices are most often a consequence of portal hypertension.
subset: hposlim_core
synonym: "Enlarged vein in esophagus" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Enlarged vein in oesophagus" EXACT uk_spelling []
synonym: "Esophageal varices" RELATED []
xref: MEDDRA:10056091 "Varices oesophageal"
xref: SNOMEDCT_US:28670008
xref: UMLS:C0014867
is_a: HP:0002031 ! Abnormal esophagus morphology

[Term]
id: HP:0002041
name: Intractable diarrhea
synonym: "Intractable diarrhoea" EXACT uk_spelling []
xref: UMLS:C0743178
is_a: HP:0002014 ! Diarrhea

[Term]
id: HP:0002043
name: Esophageal stricture
def: "A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen." [https://orcid.org/0000-0002-0736-9199]
comment: Gastroesophageal reflux is a common cause of esophageal stricture.
synonym: "Narrowing of esophagus due to inflammation and scar tissue" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Narrowing of oesophagus due to inflammation and scar tissue" EXACT uk_spelling []
xref: SNOMEDCT_US:63305008
xref: UMLS:C0014866
is_a: HP:0010450 ! Esophageal stenosis

[Term]
id: HP:0002044
name: Zollinger-Ellison syndrome
def: "A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration." [https://orcid.org/0000-0002-0736-9199]
comment: Zollinger-Ellison syndrome may occur as a manifestation of multiple endocrine neoplasia type 1.
subset: hposlim_core
xref: MEDDRA:10048281 "Zollinger-Ellison syndrome"
xref: SNOMEDCT_US:53132006
xref: UMLS:C0043515
is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract

[Term]
id: HP:0002045
name: Hypothermia
def: "Reduced body temperature due to failed thermoregulation." [https://orcid.org/0009-0006-4530-3154]
comment: A condition in which core temperature drops below that required for normal metabolism and body functions which is defined as 35.0 degrees C (95.0 degrees F).
synonym: "Abnormally low body temperature" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Hypothermia" EXACT layperson []
xref: SNOMEDCT_US:386689009
xref: UMLS:C0020672
is_a: HP:0004370 ! Abnormality of temperature regulation

[Term]
id: HP:0002046
name: Heat intolerance
def: "The inability to maintain a comfortable body temperature in warm or hot weather." [https://orcid.org/0000-0002-0736-9199]
comment: Heat intolerance tends to produce a feeling of being overheated and profuse diaphoresis (sweating). Many, but not all, cases of heat intolerance are related to thyrotoxicosis.
subset: hposlim_core
synonym: "Heat intolerance" EXACT layperson []
synonym: "Intolerance to heat and fevers" EXACT layperson []
xref: SNOMEDCT_US:69215007
xref: UMLS:C0231274
is_a: HP:0004370 ! Abnormality of temperature regulation

[Term]
id: HP:0002047
name: Malignant hyperthermia
alt_id: HP:0004896
def: "Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C. Malignant hyperthermia may occur in response to either inhalational anesthetics such as halothane, to muscle relaxants such as succinylcholine, or to exercise." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:213026003
xref: SNOMEDCT_US:405501007
xref: UMLS:C0024591
is_a: HP:0004370 ! Abnormality of temperature regulation

[Term]
id: HP:0002048
name: Renal cortical atrophy
def: "Atrophy of the cortex of the kidney." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025730
is_a: HP:0011035 ! Abnormal renal cortex morphology
is_a: HP:0012585 ! Renal atrophy

[Term]
id: HP:0002049
name: Proximal renal tubular acidosis
def: "A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Proximal tubular acidosis" EXACT []
synonym: "Renal tubular acidosis, proximal" EXACT []
synonym: "Renal tubular acidosis, type II" EXACT []
xref: SNOMEDCT_US:24790002
xref: UMLS:C0268435
is_a: HP:0001947 ! Renal tubular acidosis

[Term]
id: HP:0002050
name: Macroorchidism, postpubertal
xref: UMLS:C1839782
is_a: HP:0000053 ! Macroorchidism

[Term]
id: HP:0002054
name: Heavy supraorbital ridges
synonym: "Heavy brow of the face" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Heavy supraorbital ridge" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1845107
is_a: HP:0000336 ! Prominent supraorbital ridges

[Term]
id: HP:0002055
name: Curved linear dimple below the lower lip
xref: UMLS:C1844572
is_a: HP:0000178 ! Abnormal lower lip morphology

[Term]
id: HP:0002056
name: Abnormality of the glabella
def: "An abnormality of the glabella." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the area between the eyebrows" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the area between the eyebrows" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Glabellar abnormality" EXACT []
synonym: "Malformation of the area between the eyebrows" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4021763
is_a: HP:0000290 ! Abnormal forehead morphology

[Term]
id: HP:0002057
name: Prominent glabella
def: "Forward protrusion of the glabella." [https://orcid.org/0000-0002-0736-9199, PMID:19125436]
comment: The glabella is the area of the forehead in the midline between the supraorbital ridges, just above the nasal root.
subset: hposlim_core
synonym: "Convex glabella" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hyperplasia of glabella" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Prominent area between the eyebrows" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Protruding area between the eyebrows" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1860247
is_a: HP:0002056 ! Abnormality of the glabella

[Term]
id: HP:0002058
name: Myopathic facies
alt_id: HP:0004647
def: "A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness." [https://orcid.org/0000-0002-0736-9199]
synonym: "Myopathic face" EXACT []
synonym: "Myopathic facial appearance" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:26432009
xref: UMLS:C0332615
is_a: HP:0004673 ! Decreased facial expression

[Term]
id: HP:0002059
name: Cerebral atrophy
alt_id: HP:0002422
alt_id: HP:0006890
def: "Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum." [https://orcid.org/0009-0006-4530-3154]
comment: Atrophy may be progressive over time.
synonym: "Degeneration of cerebrum" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Supratentorial atrophy" RELATED []
xref: SNOMEDCT_US:278849000
xref: SNOMEDCT_US:418143002
xref: SNOMEDCT_US:52522001
xref: UMLS:C0154671
xref: UMLS:C0235946
xref: UMLS:C4020860
is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum

[Term]
id: HP:0002060
name: Abnormal cerebral morphology
def: "Any structural abnormality of the telencephalon, which is also known as the cerebrum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the cerebrum" EXACT []
synonym: "Abnormality of the telencephalon" EXACT []
synonym: "Cerebral lesion" EXACT []
xref: UMLS:C4021762
is_a: HP:0100547 ! Abnormal forebrain morphology

[Term]
id: HP:0002061
name: Lower limb spasticity
def: "Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis." [HPO_CONTRIBUTOR:UKT_rschuele, https://orcid.org/0000-0002-0736-9199]
synonym: "Lower extremities spasticity" EXACT []
synonym: "Lower extremity spasticity" EXACT []
synonym: "Spastic lower extremities" EXACT []
synonym: "Spastic lower extremity" EXACT []
synonym: "Spastic lower limb" EXACT []
synonym: "Spastic lower limbs" EXACT []
synonym: "Spasticity in lower extremities" EXACT []
synonym: "Spasticity in lower extremity" EXACT []
synonym: "Spasticity in lower limb" EXACT []
synonym: "Spasticity in lower limbs" EXACT []
synonym: "Spasticity of lower extremities" EXACT []
synonym: "Spasticity of lower extremity" EXACT []
synonym: "Spasticity of lower limb" EXACT []
synonym: "Spasticity of lower limbs" EXACT []
xref: SNOMEDCT_US:394679006
xref: UMLS:C1271100
is_a: HP:0034353 ! Appendicular spasticity

[Term]
id: HP:0002062
name: Abnormal pyramidal tract morphology
alt_id: HP:0012445
def: "Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts." [https://orcid.org/0000-0002-0736-9199]
comment: The pyramidal tracts comprise both the corticospinal and corticobulbar tracts.
synonym: "Abnormality of the pyramidal tracts" EXACT []
synonym: "Morphological abnormality of the pyramidal tract" EXACT []
synonym: "Pyramidal tract disease" RELATED []
xref: UMLS:C4020859
xref: UMLS:C4021761
is_a: HP:0002011 ! Morphological central nervous system abnormality

[Term]
id: HP:0002063
name: Rigidity
def: "Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity." [https://orcid.org/0000-0002-0736-9199]
comment: Rigidity is often a manifestation of basal ganglia diseases.
synonym: "Muscle rigidity" EXACT layperson []
synonym: "Rigidity" EXACT layperson []
xref: SNOMEDCT_US:16046003
xref: UMLS:C0026837
is_a: HP:0001276 ! Hypertonia

[Term]
id: HP:0002064
name: Spastic gait
def: "Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg." [PMID:25649546]
synonym: "Spastic walk" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:9447003
xref: UMLS:C0231687
is_a: HP:0001257 ! Spasticity
is_a: HP:0001288 ! Gait disturbance

[Term]
id: HP:0002066
name: Gait ataxia
alt_id: HP:0002379
def: "A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall." [HPO_CONTRIBUTOR:UKT_rschuele, https://orcid.org/0000-0002-0736-9199]
synonym: "Ataxia of gait" EXACT []
synonym: "Ataxic gait" EXACT []
synonym: "Inability to coordinate movements when walking" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:25136009
xref: UMLS:C0751837
is_a: HP:0001251 ! Ataxia
is_a: HP:0001288 ! Gait disturbance

[Term]
id: HP:0002067
name: Bradykinesia
def: "Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Slow movements" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Slowness of movements" EXACT layperson []
xref: SNOMEDCT_US:399317006
xref: UMLS:C0233565
is_a: HP:0002071 ! Abnormality of extrapyramidal motor function

[Term]
id: HP:0002068
name: Neuromuscular dysphagia
xref: UMLS:C4025729
is_a: HP:0002015 ! Dysphagia

[Term]
id: HP:0002069
name: Bilateral tonic-clonic seizure
alt_id: HP:0001306
alt_id: HP:0002407
alt_id: HP:0007252
def: "A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase." [https://orcid.org/0000-0002-0736-9199, PMID:28276060]
comment: A tonic-clonic seizure may be generalized from onset or progress from a focal seizure to a bilateral tonic clonic seizure. This term describes the observed semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding bilateral tonic-clonic seizures when the onset is not known. This form of seizure was formerly commonly called grand mal seizure.
synonym: "Bilateral convulsive seizures" EXACT []
synonym: "Generalised convulsion" EXACT uk_spelling []
synonym: "Generalised tonic-clonic seizure (without specification of onset)" EXACT []
synonym: "Generalized convulsion" EXACT []
synonym: "Generalized tonic-clonic seizure (without specification of onset)" EXACT []
synonym: "Grand mal" EXACT []
synonym: "Grand mal seizures" EXACT layperson []
synonym: "Seizures, tonic-clonic" EXACT []
synonym: "Tonic-clonic convulsion" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Tonic-clonic convulsions" EXACT plural_form [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:54200006
xref: UMLS:C0494475
is_a: HP:0001250 ! Seizure

[Term]
id: HP:0002070
name: Limb ataxia
def: "A kind of ataxia that affects movements of the extremities." [https://orcid.org/0000-0002-0736-9199]
comment: Limb ataxia is generally caused by lesions of the cerebellar hemispheres and associated pathways.
synonym: "Appendicular ataxia" EXACT []
xref: UMLS:C0750937
is_a: HP:0001251 ! Ataxia

[Term]
id: HP:0002071
name: Abnormality of extrapyramidal motor function
alt_id: HP:0006810
alt_id: HP:0007113
def: "A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless)." [https://orcid.org/0000-0002-0736-9199]
comment: The basal ganglia, paired subcortical masses of gray matter that form distinct nuclei, subserve motor functions that are distinct from those of the pyramidal (i.e., corticospinal) tract. This is a bundled term that is kept for historical reasons, but it is preferable to annotate the precise abnormalities observed.
synonym: "Extrapyramidal dysfunction" EXACT []
synonym: "Extrapyramidal signs" EXACT []
synonym: "Extrapyramidal symptoms" EXACT []
synonym: "Extrapyramidal syndrome" EXACT []
synonym: "Extrapyramidal tract signs" EXACT []
xref: SNOMEDCT_US:43378000
xref: SNOMEDCT_US:76349003
xref: UMLS:C0015371
xref: UMLS:C0234133
is_a: HP:0011442 ! Abnormal central motor function

[Term]
id: HP:0002072
name: Chorea
alt_id: HP:0002397
def: "Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities." [https://orcid.org/0000-0002-0736-9199, PMID:20589866]
synonym: "Choreatic disease" RELATED []
synonym: "Choreic movements" EXACT []
synonym: "Choreiform movements" EXACT []
xref: SNOMEDCT_US:271700006
xref: UMLS:C0008489
xref: UMLS:C4020858
is_a: HP:0004305 ! Involuntary movements

[Term]
id: HP:0002073
name: Progressive cerebellar ataxia
alt_id: HP:0001329
alt_id: HP:0002496
alt_id: HP:0007331
synonym: "Cerebellar ataxia, progressive" EXACT []
synonym: "Progressive ataxia" EXACT []
xref: SNOMEDCT_US:230233000
xref: UMLS:C0393525
is_a: HP:0001251 ! Ataxia

[Term]
id: HP:0002074
name: Increased neuronal autofluorescent lipopigment
def: "Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient." [https://orcid.org/0000-0002-0736-9199, PMID:11406682]
synonym: "Neuronal lipopigments" RELATED []
xref: UMLS:C4020857
xref: UMLS:C4025728
is_a: HP:0011813 ! Increased cerebral lipofuscin

[Term]
id: HP:0002075
name: Dysdiadochokinesis
alt_id: HP:0002426
def: "A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible." [HPO_CONTRIBUTOR:UKB_tklockgether, HPO_CONTRIBUTOR:zaferyueksel, https://orcid.org/0000-0002-0736-9199]
comment: Inability to perform rapid, alternating movements. Dysdiadochokinesis is generally related to a cerebellar lesion.
synonym: "Difficulty performing quick and alternating movements" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Dysdiadochokinesia" EXACT []
xref: SNOMEDCT_US:23133003
xref: UMLS:C0234979
is_a: HP:0001251 ! Ataxia

[Term]
id: HP:0002076
name: Migraine
alt_id: HP:0007194
def: "Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms." [https://orcid.org/0000-0002-0736-9199, PMID:15304572]
synonym: "Intermittent migraine headaches" EXACT layperson []
synonym: "Migraine" EXACT layperson []
synonym: "Migraine headache" EXACT layperson []
synonym: "Migraine headaches" EXACT layperson []
xref: SNOMEDCT_US:37796009
xref: UMLS:C0149931
xref: UMLS:C0744641
is_a: HP:0002315 ! Headache

[Term]
id: HP:0002077
name: Migraine with aura
def: "A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession." [https://orcid.org/0000-0002-0736-9199, PMID:15304572]
xref: SNOMEDCT_US:4473006
xref: UMLS:C0154723
is_a: HP:0002076 ! Migraine

[Term]
id: HP:0002078
name: Truncal ataxia
alt_id: HP:0007014
def: "Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting." [HPO_CONTRIBUTOR:UKT_rschuele, https://orcid.org/0000-0002-0736-9199]
comment: Truncal ataxia is generally caused by midline damage to the cerebellar vermis and associated pathways. Patients with truncal ataxia may not be able to sit or stand without support.
synonym: "Instability or lack of coordination of central trunk muscles" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Trunk ataxia" EXACT []
xref: SNOMEDCT_US:250067008
xref: UMLS:C0427190
is_a: HP:0001251 ! Ataxia

[Term]
id: HP:0002079
name: Hypoplasia of the corpus callosum
alt_id: HP:0002319
alt_id: HP:0007026
def: "Underdevelopment of the corpus callosum." [https://orcid.org/0000-0002-0736-9199, PMID:21263138]
comment: The corpus callosum appears thin in midline views of the brain in neuroradiological images.
synonym: "Corpus callosum hypoplasia" EXACT []
synonym: "Hypoplasia of corpus callosum" EXACT []
synonym: "Hypoplastic corpus callosum" EXACT []
synonym: "Underdevelopment of part of brain called corpus callosum" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:204043002
xref: UMLS:C0344482
is_a: HP:0007370 ! Aplasia/Hypoplasia of the corpus callosum

[Term]
id: HP:0002080
name: Intention tremor
def: "A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger)." [https://orcid.org/0000-0002-0736-9199, PMID:16344298]
synonym: "Cerebellar tremor" RELATED []
synonym: "Terminal tremor" RELATED []
xref: SNOMEDCT_US:30721006
xref: UMLS:C0234376
xref: UMLS:C4020856
is_a: HP:0030186 ! Kinetic tremor

[Term]
id: HP:0002083
name: Migraine without aura
def: "Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia." [https://orcid.org/0000-0002-0736-9199, PMID:15304572]
comment: The definition of this term is based on the definition in the International Classification of Headache Disorders by the International Headache Society (PMID:15304572), which additionally stipulate that such headaches must have occurred at least five times and not other secondary cause must be apparent in order to make the diagnosis.
xref: SNOMEDCT_US:56097005
xref: UMLS:C0338480
is_a: HP:0002076 ! Migraine

[Term]
id: HP:0002084
name: Encephalocele
alt_id: HP:0002736
alt_id: HP:0100664
def: "A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull." [https://orcid.org/0000-0002-0736-9199]
comment: A congenital gap in the skull that usually results in a protrusion of brain material.
synonym: "Bifid skull" EXACT []
synonym: "Cranium bifidum" EXACT []
xref: SNOMEDCT_US:253101008
xref: SNOMEDCT_US:48777005
xref: SNOMEDCT_US:55999004
xref: UMLS:C0014065
is_a: HP:0011815 ! Cephalocele
is_a: HP:0034237 ! Open neural tube defect

[Term]
id: HP:0002085
name: Occipital encephalocele
alt_id: HP:0007051
alt_id: HP:0007357
def: "A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-2972-5481]
synonym: "Brain tissue sticks out through back of skull" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Occipital meningoencephalocele" EXACT []
synonym: "Posterior encephalocele" EXACT []
xref: SNOMEDCT_US:42376006
xref: UMLS:C0014067
is_a: HP:0002084 ! Encephalocele

[Term]
id: HP:0002086
name: Abnormality of the respiratory system
def: "An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles." [https://orcid.org/0000-0002-0736-9199]
synonym: "Respiratory abnormality" EXACT []
xref: UMLS:C4018871
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0002087
name: Abnormality of the upper respiratory tract
def: "An abnormality of the upper respiratory tract." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the upper respiratory tract" EXACT layperson []
synonym: "Upper respiratory tract issues" EXACT layperson []
xref: UMLS:C4025727
is_a: HP:0012252 ! Abnormal respiratory system morphology

[Term]
id: HP:0002088
name: Abnormal lung morphology
def: "Any structural anomaly of the lung." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of lung structure" EXACT layperson []
synonym: "Abnormality of the lungs" EXACT layperson []
synonym: "Abnormally shaped lung" EXACT layperson []
synonym: "Lung disease" RELATED layperson []
synonym: "Unusual lung shape" EXACT layperson []
xref: SNOMEDCT_US:19829001
xref: UMLS:C0024115
xref: UMLS:C4021760
is_a: HP:0012252 ! Abnormal respiratory system morphology

[Term]
id: HP:0002089
name: Pulmonary hypoplasia
synonym: "Hypoplastic lung" EXACT []
synonym: "Hypoplastic lungs" EXACT []
synonym: "Lung hypoplasia" EXACT []
synonym: "Poorly developed lungs" EXACT layperson []
synonym: "Small lung" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Underdeveloped lung" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:80825009
xref: UMLS:C0265783
is_a: HP:0006703 ! Aplasia/Hypoplasia of the lungs

[Term]
id: HP:0002090
name: Pneumonia
def: "Inflammation of any part of the lung parenchyma." [https://orcid.org/0000-0002-0736-9199]
synonym: "Pneumonia" EXACT layperson []
xref: SNOMEDCT_US:233604007
xref: UMLS:C0032285
is_a: HP:0011947 ! Respiratory tract infection
is_a: HP:0012649 ! Increased inflammatory response

[Term]
id: HP:0002091
name: Restrictive ventilatory defect
alt_id: HP:0002111
def: "A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus." [https://orcid.org/0000-0003-4546-6667, PMID:28194273]
comment: The most commonly used term for this feature is restrictive lung disease, but we choose the term Restrictive ventilatory defect to emphasize that this term refers to a phenotypic feature rather than a disease entity.
synonym: "Restrictive deficit on pulmonary function testing" EXACT []
synonym: "Restrictive deficit on pulmonary function tests" EXACT []
synonym: "Restrictive lung disease" RELATED [https://orcid.org/0000-0001-5208-3432]
synonym: "Restrictive respiratory disease" EXACT []
synonym: "Restrictive respiratory insufficiency" EXACT []
synonym: "Restrictive respiratory syndrome" EXACT []
synonym: "Spirometric restriction" EXACT []
synonym: "Stiff lung or chest wall causing decreased lung volume" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:36485005
xref: UMLS:C0085581
xref: UMLS:C3277226
is_a: HP:0030878 ! Abnormality on pulmonary function testing

[Term]
id: HP:0002092
name: Pulmonary arterial hypertension
alt_id: HP:0006546
def: "Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position." [https://orcid.org/0000-0002-0736-9199]
comment: Pulmonary hypertension can be secondary to known cardiac, pulmonary, or hepatic disease. If no cause is identifiable, the term primary pulmonary hypertension is used.
synonym: "Increased blood pressure in blood vessels of lungs" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Primary pulmonary hypertension" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Pulmonary artery hypertension" EXACT []
xref: SNOMEDCT_US:11399002
xref: SNOMEDCT_US:697898008
xref: SNOMEDCT_US:70995007
xref: UMLS:C0020542
xref: UMLS:C2973725
xref: UMLS:C3203102
is_a: HP:0033578 ! Pre-capillary pulmonary hypertension

[Term]
id: HP:0002093
name: Respiratory insufficiency
alt_id: HP:0004893
alt_id: HP:0005937
alt_id: HP:0006542
synonym: "Respiratory function loss" RELATED layperson []
synonym: "Respiratory impairment" EXACT layperson []
xref: SNOMEDCT_US:409623005
xref: UMLS:C0035229
xref: UMLS:C4020855
is_a: HP:0002795 ! Abnormal respiratory system physiology

[Term]
id: HP:0002094
name: Dyspnea
def: "Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale." [https://orcid.org/0000-0002-0736-9199, PMID:16914301]
synonym: "Abnormal breathing" EXACT []
synonym: "Breathing difficulty" EXACT layperson []
synonym: "Difficult to breathe" EXACT layperson []
synonym: "Difficulty breathing" EXACT layperson []
synonym: "Dyspnoea" EXACT uk_spelling []
synonym: "Panting" RELATED layperson []
synonym: "Shortness of breath" EXACT layperson []
synonym: "Trouble breathing" EXACT layperson []
xref: SNOMEDCT_US:230145002
xref: SNOMEDCT_US:267036007
xref: UMLS:C0013404
is_a: HP:0002793 ! Abnormal pattern of respiration

[Term]
id: HP:0002097
name: Emphysema
alt_id: HP:0006534
synonym: "Pulmonary emphysema" EXACT []
xref: SNOMEDCT_US:87433001
xref: UMLS:C0034067
is_a: HP:0002088 ! Abnormal lung morphology

[Term]
id: HP:0002098
name: Respiratory distress
alt_id: HP:0002880
def: "Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea." []
synonym: "Breathing difficulties" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Labored breathing" EXACT layperson []
synonym: "Laboured breathing" EXACT uk_spelling []
synonym: "Respiratory difficulties" EXACT []
xref: SNOMEDCT_US:230145002
xref: SNOMEDCT_US:267036007
xref: SNOMEDCT_US:271825005
xref: UMLS:C0013404
xref: UMLS:C0476273
is_a: HP:0002094 ! Dyspnea

[Term]
id: HP:0002099
name: Asthma
alt_id: HP:0002112
def: "Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing." [https://orcid.org/0000-0002-0736-9199]
synonym: "Asthma" EXACT layperson []
synonym: "Bronchial asthma" EXACT []
synonym: "Reactive airway disease" RELATED []
xref: SNOMEDCT_US:195967001
xref: SNOMEDCT_US:991000119106
xref: UMLS:C0004096
xref: UMLS:C3714497
is_a: HP:0002795 ! Abnormal respiratory system physiology
is_a: HP:0100326 ! Immunologic hypersensitivity

[Term]
id: HP:0002100
name: Recurrent aspiration pneumonia
alt_id: HP:0002106
def: "Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Recurrent pneumonia due to aspiration," EXACT []
xref: SNOMEDCT_US:430969000
xref: UMLS:C0747651
is_a: HP:0011951 ! Aspiration pneumonia

[Term]
id: HP:0002101
name: Abnormal lung lobation
alt_id: HP:0006525
alt_id: HP:0009753
def: "A developmental defect in the formation of pulmonary lobes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal pulmonary lobation" EXACT []
synonym: "Defective lung lobation" EXACT []
synonym: "Lung segmentation defects" EXACT []
xref: SNOMEDCT_US:91842005
xref: UMLS:C0685695
is_a: HP:4000059 ! Abnormal lung development

[Term]
id: HP:0002102
name: Pleuritis
def: "Inflammation of the pleura." [https://orcid.org/0009-0006-4530-3154]
synonym: "Inflammation of tissues lining lungs and chest" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Pleurisy" EXACT [https://orcid.org/0009-0006-4530-3154]
xref: SNOMEDCT_US:196075003
xref: UMLS:C0032231
is_a: HP:0002103 ! Abnormal pleura morphology

[Term]
id: HP:0002103
name: Abnormal pleura morphology
def: "An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the pleura" EXACT []
xref: UMLS:C4025726
is_a: HP:0002088 ! Abnormal lung morphology

[Term]
id: HP:0002104
name: Apnea
alt_id: HP:0005936
alt_id: HP:0005958
def: "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absence of spontaneous respiration" EXACT []
synonym: "Apneic episodes" EXACT []
synonym: "Apnoea" EXACT []
xref: SNOMEDCT_US:1023001
xref: SNOMEDCT_US:248583008
xref: UMLS:C0003578
is_a: HP:0002793 ! Abnormal pattern of respiration

[Term]
id: HP:0002105
name: Hemoptysis
def: "Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Coughing up blood" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Coughing up blood or blood-stained mucus" RELATED layperson []
synonym: "Haemoptysis" EXACT uk_spelling []
xref: SNOMEDCT_US:66857006
xref: SNOMEDCT_US:6686005
xref: UMLS:C0019079
is_a: HP:0032016 ! Abnormal sputum

[Term]
id: HP:0002107
name: Pneumothorax
def: "Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung." [https://orcid.org/0000-0002-0736-9199]
synonym: "Collapsed lung" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:36118008
xref: UMLS:C0032326
is_a: HP:0002103 ! Abnormal pleura morphology

[Term]
id: HP:0002108
name: Spontaneous pneumothorax
def: "Pneumothorax occurring without traumatic injury to the chest or lung." [https://orcid.org/0000-0002-0736-9199]
synonym: "Spontaneous collapsed lung" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:80423007
xref: UMLS:C0149781
is_a: HP:0002107 ! Pneumothorax

[Term]
id: HP:0002109
name: obsolete Abnormality of the bronchi
is_obsolete: true
replaced_by: HP:0025426

[Term]
id: HP:0002110
name: Bronchiectasis
def: "Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways." [https://orcid.org/0000-0002-0736-9199]
synonym: "Permanent enlargement of the airways of the lungs" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:12295008
xref: UMLS:C0006267
is_a: HP:0025426 ! Abnormal bronchus morphology

[Term]
id: HP:0002111
name: obsolete Restrictive deficit on pulmonary function testing
is_obsolete: true
replaced_by: HP:0002091

[Term]
id: HP:0002113
name: Pulmonary infiltrates
synonym: "Lung infiltrates" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Pulmonic infiltration" EXACT []
xref: UMLS:C0235896
is_a: HP:0031983 ! Abnormal pulmonary thoracic imaging finding

[Term]
id: HP:0002118
name: Abnormal cerebral ventricle morphology
def: "Any structural abnormality of the cerebral ventricles." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the cerebral ventricles" EXACT []
xref: UMLS:C4025724
is_a: HP:0012443 ! Abnormal brain morphology

[Term]
id: HP:0002119
name: Ventriculomegaly
alt_id: HP:0002447
alt_id: HP:0005691
alt_id: HP:0007071
def: "An increase in size of the ventricular system of the brain." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cerebral ventricular dilatation" EXACT []
synonym: "Dilated cerebral ventricle" EXACT []
synonym: "Dilated cerebral ventricles" EXACT []
synonym: "Dilated ventricles" EXACT []
synonym: "Enlarged cerebral ventricles" EXACT []
synonym: "Enlarged ventricles" EXACT []
synonym: "Enlarged ventricular system" EXACT []
synonym: "Large cerebral ventricles and cisternae" EXACT []
synonym: "Ventricular dilatation" EXACT []
xref: UMLS:C3278923
is_a: HP:0002118 ! Abnormal cerebral ventricle morphology

[Term]
id: HP:0002120
name: Cerebral cortical atrophy
alt_id: HP:0006823
alt_id: HP:0006835
def: "Atrophy of the cortex of the cerebrum." [https://orcid.org/0000-0002-0736-9199]
comment: Cortical atrophy is a finding that can be demonstrated by computer tomography or magnetic resonance imaging.
synonym: "Cerebral cortex atrophy" EXACT []
synonym: "Cortical atrophy" EXACT []
synonym: "Decrease in size of the outer layer of the brain due to loss of brain cells" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:278849000
xref: UMLS:C0235946
is_a: HP:0002059 ! Cerebral atrophy
is_a: HP:0002538 ! Abnormal cerebral cortex morphology

[Term]
id: HP:0002121
name: Generalized non-motor (absence) seizure
alt_id: HP:0007143
alt_id: HP:0011148
def: "A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features." [https://orcid.org/0000-0002-0736-9199, PMID:28276060, PMID:28276062, PMID:28276064]
comment: in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure.
synonym: "Absence seizure" EXACT []
synonym: "Absence seizures" EXACT plural_form []
synonym: "Brief seizures with staring spells" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Generalised non-motor (absence) seizure" EXACT uk_spelling []
synonym: "Generalised non-motor seizure" EXACT uk_spelling []
synonym: "Petit mal" EXACT []
synonym: "Petit mal seizure" EXACT []
synonym: "Petit mal seizures" EXACT plural_form []
xref: SNOMEDCT_US:230413002
xref: SNOMEDCT_US:432241000124101
xref: SNOMEDCT_US:50866000
xref: SNOMEDCT_US:79631006
xref: UMLS:C0014553
is_a: HP:0002197 ! Generalized-onset seizure
is_a: HP:0011146 ! Dialeptic seizure
is_a: HP:0033259 ! Non-motor seizure

[Term]
id: HP:0002123
name: Generalized myoclonic seizure
alt_id: HP:0006869
alt_id: HP:0006902
alt_id: HP:0007075
alt_id: HP:0007202
alt_id: HP:0007284
alt_id: HP:0007294
def: "A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus." [HPO_CONTRIBUTOR:jalbers, PMID:28276060, PMID:28276064]
synonym: "Generalised epileptic myoclonus" EXACT []
synonym: "Generalised myoclonic seizure" EXACT []
synonym: "Generalised myoclonic seizures" EXACT uk_spelling []
synonym: "Generalized epileptic myoclonus" EXACT []
synonym: "Generalized myoclonic seizures" EXACT plural_form []
synonym: "Myoclonic epilepsy, progressive" RELATED []
synonym: "Myoclonus seizures" EXACT []
xref: SNOMEDCT_US:192992007
xref: SNOMEDCT_US:267581004
xref: SNOMEDCT_US:37356005
xref: UMLS:C0014550
xref: UMLS:C0751778
xref: UMLS:C4021759
is_a: HP:0032677 ! Generalized-onset motor seizure
is_a: HP:0032794 ! Myoclonic seizure

[Term]
id: HP:0002126
name: Polymicrogyria
def: "Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds)." [http://www.wikidata.org/entity/Q90573458, https://orcid.org/0000-0002-0736-9199, PMID:24888723]
comment: Polymicrogyria, one of the most common malformations of cortical development, is characterized histologically by the appearance of an excessive number of small cortical folds, often fused together, with disordered cortical lamination.
synonym: "More grooves in brain" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:4945003
xref: UMLS:C0266464
is_a: HP:0002536 ! Abnormal cortical gyration

[Term]
id: HP:0002127
name: Abnormal upper motor neuron morphology
def: "Any structural anomaly that affects the upper motor neuron." []
comment: previous def: 'has part' some (quality and ('inheres in' some 'Upper motor neuron (adult human)') and ('has modifier' some abnormal))
synonym: "Abnormal shape of upper motor neuron" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025723
is_a: HP:0002450 ! Abnormal motor neuron morphology

[Term]
id: HP:0002131
name: Episodic ataxia
alt_id: HP:0006862
alt_id: HP:0007152
alt_id: HP:0007214
def: "Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days." [https://orcid.org/0000-0002-0736-9199]
synonym: "Intermittent cerebellar ataxia" EXACT []
synonym: "Paroxysmal ataxia" EXACT []
xref: SNOMEDCT_US:421455009
xref: UMLS:C1720189
is_a: HP:0001251 ! Ataxia

[Term]
id: HP:0002132
name: Porencephalic cyst
def: "A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system." [https://orcid.org/0000-0002-0736-9199, PMID:9279052]
comment: Porencephaly is usually the result of damage from stroke or infection after birth, but may also be the result of a developmental defect. Porencephaly is often associated with various ophthalmic and neurologic signs, including visual-field defects, abnormal pupillary responses, optic nerve hypoplasia, decreased vision, nystagmus, strabismus, hemi-inattention, seizures, and mental deficiencies.
synonym: "Cavity within brain" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C4082173
is_a: HP:0002060 ! Abnormal cerebral morphology

[Term]
id: HP:0002133
name: Status epilepticus
def: "Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures." [HPO_CONTRIBUTOR:jalbers, https://orcid.org/0000-0002-1735-8178, PMID:26336950, PMID:28276060]
comment: In 2015 the ILAE Task Force on Classification of Status Epilepticus concluded that the evidence to define time points 1 and 2 in humans was incomplete. For tonic-clonic status epilepticus t1 is defined as 5 minutes and t2 as 30 minutes. For focal status epilepticus with impaired consciousness t1 is defined as 10 minutes and t2 over 60 minutes. For absence status epilepticus t1 is defined as 10-15 minutes and t2 is unknown.
synonym: "Prolonged seizure" EXACT []
synonym: "Repeated seizure without recovery" EXACT []
synonym: "Repeated seizures without recovery between them" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:230456007
xref: UMLS:C0038220
is_a: HP:0001250 ! Seizure

[Term]
id: HP:0002134
name: Abnormal basal ganglia morphology
alt_id: HP:0006952
alt_id: HP:0007257
def: "Abnormality of the basal ganglia." [https://orcid.org/0000-0002-0736-9199]
comment: The basal ganglia are a group of nuclei (striatum, pallidum substantia nigra, and the subthalamic nucleus) at the base of the forebrain that are connected to the cerebral cortex, the thalamus, and other areas. The basal ganglia subserve motor functions that are distinct from those of the pyramidal (corticospinal) tract, for which reason neurologic abnormalities caused by lesions to the basal ganglia are often referred to as extrapyramidal.
synonym: "Abnormality of the basal ganglia" EXACT []
synonym: "Anomaly of the basal ganglia" EXACT []
synonym: "Basal ganglia disease" EXACT []
xref: SNOMEDCT_US:70835005
xref: UMLS:C0004782
is_a: HP:0010993 ! Abnormal cerebral subcortex morphology

[Term]
id: HP:0002135
name: Basal ganglia calcification
alt_id: HP:0002485
def: "The presence of calcium deposition affecting one or more structures of the basal ganglia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Basal ganglia calcifications" EXACT []
synonym: "Basal ganglion calcification" EXACT []
synonym: "Calcification of the basal ganglia" EXACT []
xref: UMLS:C1389280
is_a: HP:0002134 ! Abnormal basal ganglia morphology
is_a: HP:0002514 ! Cerebral calcification

[Term]
id: HP:0002136
name: Broad-based gait
def: "An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad based gait" EXACT []
synonym: "Wide based gait" EXACT []
synonym: "Wide based walk" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Wide-based gait" EXACT []
xref: UMLS:C0856863
is_a: HP:0001288 ! Gait disturbance

[Term]
id: HP:0002138
name: Subarachnoid hemorrhage
def: "Hemorrhage occurring between the arachnoid mater and the pia mater." [https://orcid.org/0009-0006-4530-3154]
comment: Bleeding into the subarachnoid space the area between the arachnoid membrane and the pia mater surrounding the brain. Subarachnoid hemorrhage may occur spontaneously, usually from a ruptured cerebral aneurysm, or may result from head injury.
synonym: "Subarachnoid hemorrhage" EXACT []
xref: SNOMEDCT_US:21454007
xref: UMLS:C0038525
is_a: HP:0002170 ! Intracranial hemorrhage
is_a: HP:0012703 ! Abnormal subarachnoid space morphology

[Term]
id: HP:0002139
name: Arrhinencephaly
def: "A defect of development of the brain characterized by congenital absence of the part of the brain that includes the olfactory bulbs, tracts, and other structures associated with the sense of smell." []
synonym: "Arhinencephaly" EXACT []
xref: UMLS:C0078982
is_a: HP:0100547 ! Abnormal forebrain morphology

[Term]
id: HP:0002140
name: Ischemic stroke
def: "Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured." [PMID:32054610]
synonym: "Ischaemic stroke" EXACT uk_spelling []
xref: SNOMEDCT_US:422504002
xref: UMLS:C0948008
is_a: HP:0001297 ! Stroke
is_a: HP:0002637 ! Cerebral ischemia
is_a: HP:0025722 ! Cerebral infarct

[Term]
id: HP:0002141
name: Gait imbalance
alt_id: HP:0100683
synonym: "Abnormality of balance" EXACT layperson []
synonym: "Abnormality of equilibrium" EXACT layperson []
synonym: "Imbalanced walk" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1836150
is_a: HP:0001288 ! Gait disturbance

[Term]
id: HP:0002143
name: Abnormal spinal cord morphology
def: "A structural abnormality of the spinal cord (myelon)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the spinal cord" EXACT layperson []
synonym: "Spinal cord disease" RELATED layperson []
synonym: "Spinal cord pathology" RELATED []
xref: SNOMEDCT_US:48522003
xref: UMLS:C0037928
xref: UMLS:C4025722
is_a: HP:0002011 ! Morphological central nervous system abnormality

[Term]
id: HP:0002144
name: Tethered cord
def: "During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord." [https://orcid.org/0000-0002-0736-9199]
synonym: "Occult spinal dysraphism" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:70534000
xref: UMLS:C0080218
is_a: HP:0031938 ! Abnormal conus terminalis morphology

[Term]
id: HP:0002145
name: Frontotemporal dementia
def: "A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders." [https://orcid.org/0000-0002-0736-9199, PMID:24966676]
xref: SNOMEDCT_US:230270009
xref: UMLS:C0338451
is_a: HP:0000726 ! Dementia

[Term]
id: HP:0002148
name: Hypophosphatemia
def: "An abnormally decreased phosphate concentration in the blood." [HPO_CONTRIBUTOR:gcarletti]
synonym: "Hypophosphataemia" EXACT []
synonym: "Low blood phosphate level" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:4996001
xref: UMLS:C0085682
is_a: HP:0100529 ! Abnormal blood phosphate concentration

[Term]
id: HP:0002149
name: Hyperuricemia
def: "An abnormally high level of uric acid in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "High blood uric acid level" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Hyperuricaemia" EXACT []
xref: SNOMEDCT_US:35885006
xref: UMLS:C0740394
is_a: HP:0002157 ! Azotemia
is_a: HP:0010932 ! Abnormal circulating nucleobase concentration

[Term]
id: HP:0002150
name: Hypercalciuria
synonym: "Elevated urine calcium levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Hypercalcinuria" EXACT []
xref: SNOMEDCT_US:71938000
xref: UMLS:C0020438
is_a: HP:0011280 ! Abnormality of urine calcium concentration

[Term]
id: HP:0002151
name: Increased circulating lactate concentration
alt_id: HP:0003638
def: "Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35)." [https://orcid.org/0000-0002-0736-9199, PMID:24079682]
synonym: "Higher than normal levels of lactate in blood" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Increased blood lactate" EXACT []
synonym: "Increased serum lactate" EXACT []
xref: UMLS:C1836440
is_a: HP:0001941 ! Acidosis

[Term]
id: HP:0002152
name: Hyperproteinemia
def: "An increased concentration of proteins in the blood." [HPO_CONTRIBUTOR:gcarletti]
xref: SNOMEDCT_US:37064009
xref: UMLS:C0267988
is_a: HP:0010876 ! Abnormal circulating protein concentration

[Term]
id: HP:0002153
name: Hyperkalemia
def: "An abnormally increased potassium concentration in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased circulating potassium concentration" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:14140009
xref: SNOMEDCT_US:166689004
xref: SNOMEDCT_US:238142003
xref: UMLS:C0020461
is_a: HP:0011042 ! Abnormal circulating potassium concentration

[Term]
id: HP:0002154
name: Hyperglycinemia
def: "An elevated concentration of glycine in the blood." [HPO_CONTRIBUTOR:gcarletti, PMID:16902722, PMID:4696900]
comment: Normal blood glycine levels are around 200-250 micromole per liter.
synonym: "Elevated blood glycine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Hyperglycinaemia" EXACT []
xref: SNOMEDCT_US:64654004
xref: UMLS:C0268559
is_a: HP:0010895 ! Abnormal circulating glycine concentration

[Term]
id: HP:0002155
name: Hypertriglyceridemia
alt_id: HP:0003082
alt_id: HP:0008174
alt_id: HP:0008332
def: "An abnormal increase in the level of triglycerides in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased circulating Tg levels" EXACT abbreviation []
synonym: "Increased plasma Tg levels" EXACT abbreviation []
synonym: "Increased plasma triglycerides" EXACT layperson []
synonym: "Increased serum triglycerides" EXACT layperson []
synonym: "Increased triglycerides" EXACT layperson []
xref: UMLS:C1522137
is_a: HP:0003077 ! Hyperlipidemia

[Term]
id: HP:0002156
name: Homocystinuria
def: "An increased concentration of homocystine in the urine." [HPO_CONTRIBUTOR:gcarletti]
comment: Homocystine is a disulfide derivate of homocysteine (a precursor of cysteine). Patients with homocystinuria have a clinical phenotype similar to that of patients affected by Marfan syndrome (pectus excavatum, dislocated lenses, etc). This term does not describe the disease entity, but rather the finding of an increased concentration of homocystine in urine, which can be easily detected by a sensitive test for disulphide compounds (the cyanide-nitroprusside reaction) and using chromatographic techniques. Homocystinuria can be caused by biochemical defects including cystathionine B-synthase deficiency, N5-methyltetrahydrofolate:homocystine methyltransferase deficiency, N5,10-methylentetrahydrofolate reductase deficiency, and methhylcobalamin deficiency.
synonym: "High urine homocystine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:11282001
xref: UMLS:C0019880
is_a: HP:0033095 ! Increased sulfur amino acid level in urine

[Term]
id: HP:0002157
name: Azotemia
def: "An increased concentration of nitrogen compounds in the blood." [HPO_CONTRIBUTOR:gcarletti]
comment: Abnormal levels of nitrogen-containing compounds, such as urea and creatinine.
synonym: "Azotaemia" EXACT []
xref: SNOMEDCT_US:445009001
xref: UMLS:C0242528
is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration

[Term]
id: HP:0002159
name: Heparan sulfate excretion in urine
def: "An increased concentration of heparan sulfates in the urine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Heparan sulphate excretion in urine" EXACT uk_spelling []
xref: UMLS:C1854827
is_a: HP:0008155 ! Mucopolysacchariduria

[Term]
id: HP:0002160
name: Hyperhomocystinemia
def: "An increased concentration of homocystine in the blood." [HPO_CONTRIBUTOR:gcarletti]
comment: Homocystine is a disulfide derivative of homocysteine (a precursor of cysteine). Hyperhomocystinemic patients show blood homocystine levels in the range of 50-200 micromolar.
synonym: "Elevated blood homocystine" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Homocystinemia" EXACT []
xref: UMLS:C3806347
is_a: HP:0010919 ! Abnormal circulating homocysteine concentration

[Term]
id: HP:0002161
name: Hyperlysinemia
def: "An increased concentration of lysine in the blood." [HPO_CONTRIBUTOR:gcarletti, PMID:4696900]
comment: Normal blood lysine levels are around 180-200 micromole per liter.
synonym: "Elevated blood lysine" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:58558003
xref: UMLS:C0268553
is_a: HP:0010908 ! Abnormal circulating lysine concentration

[Term]
id: HP:0002162
name: Low posterior hairline
def: "Hair on the neck extends more inferiorly than usual." [PMID:19125436]
comment: This feature is often seen in later childhood, as the neck lengthens, in an individual who was born with redundant nuchal skin, which should be assessed and coded separately.
subset: hposlim_core
synonym: "Low hairline at back of neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Low posterior hair line" EXACT []
xref: UMLS:C1855728
is_a: HP:0025668 ! Abnormal neck morphology
is_a: HP:0030141 ! Abnormality of the posterior hairline

[Term]
id: HP:0002164
name: Nail dysplasia
alt_id: HP:0001793
alt_id: HP:0001794
alt_id: HP:0001797
alt_id: HP:0008387
alt_id: HP:0008403
alt_id: HP:0008409
alt_id: HP:0008412
def: "The presence of developmental dysplasia of the nail." [https://orcid.org/0000-0002-0736-9199]
synonym: "Atypical nail growth" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Dysplastic nails" EXACT []
synonym: "Onychodysplasia" EXACT []
xref: UMLS:C1834405
is_a: HP:0001597 ! Abnormal nail morphology

[Term]
id: HP:0002165
name: Nail pterygium
def: "Inward advance of skin over the nail plate." [https://orcid.org/0000-0002-0736-9199]
synonym: "Nail pterygium" EXACT []
synonym: "Pterygium of nails" EXACT []
xref: SNOMEDCT_US:110987009
xref: UMLS:C0406438
is_a: HP:0025756 ! Abnormal nail attachment

[Term]
id: HP:0002166
name: Impaired vibration sensation in the lower limbs
def: "A decrease in the ability to perceive vibration in the legs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased lower limb vibratory sense" EXACT layperson []
synonym: "Decreased vibratory sense in lower limbs" EXACT layperson []
synonym: "Decreased vibratory sense in the lower extremities" EXACT layperson []
synonym: "Decreased vibratory sense in the lower limbs" EXACT layperson []
synonym: "Diminished vibratory sensation in the legs" EXACT layperson []
synonym: "Distal sensory loss, especially vibratory sense" EXACT []
synonym: "Distal vibratory impairment of the lower limbs" EXACT []
synonym: "Impaired vibration sensation in the lower limbs" EXACT layperson []
xref: UMLS:C1849134
is_a: HP:0002495 ! Impaired vibratory sensation

[Term]
id: HP:0002167
name: Abnormal speech pattern
def: "An abnormality in the sound (volume) or cadence (rate) of speech." []
comment: The term Abnormal speech pattern includes both psychiatric and neurological conditions that affect the rate, rhythm, and volume of expressed speech.
synonym: "Abnormal speech" EXACT []
synonym: "Abnormal vocalisation" EXACT uk_spelling []
synonym: "Abnormal vocalization" EXACT []
synonym: "Abnormality of speech or vocalization" EXACT []
xref: UMLS:C0037822
is_a: HP:4000072 ! Abnormal language feature
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-2592-4715
property_value: terms:contributor https://orcid.org/0000-0002-9593-5508
property_value: terms:contributor https://orcid.org/0000-0003-3777-1389

[Term]
id: HP:0002168
name: Scanning speech
def: "An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly." [PMID:16247074]
synonym: "Explosive speech" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:102935005
xref: SNOMEDCT_US:77420001
xref: UMLS:C0278184
xref: UMLS:C0522198
is_a: HP:0002167 ! Abnormal speech pattern

[Term]
id: HP:0002169
name: Clonus
def: "A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch." [https://orcid.org/0000-0002-0736-9199]
comment: Clonus is a manifestation of spasticity that can occur with lesions of the corticospinal tract. Only sustained clonus (5 beats or more) is considered abnormal.
synonym: "Involuntary rhythmic muscular contractions and relaxations" EXACT [http://purl.obolibrary.org/obo/hp#layperson, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:36649002
xref: UMLS:C0009024
is_a: HP:0001347 ! Hyperreflexia
is_a: HP:0004305 ! Involuntary movements

[Term]
id: HP:0002170
name: Intracranial hemorrhage
def: "Hemorrhage occurring within the skull." [HPO_CONTRIBUTOR:gcarletti]
synonym: "Bleeding within the skull" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Intracranial haemorrhage" EXACT uk_spelling []
xref: SNOMEDCT_US:1386000
xref: UMLS:C0151699
is_a: HP:0011029 ! Internal hemorrhage
is_a: HP:0100659 ! Abnormal cerebral vascular morphology

[Term]
id: HP:0002171
name: Gliosis
def: "Gliosis is the focal proliferation of glial cells in the central nervous system." [https://orcid.org/0009-0006-4530-3154]
comment: Gliosis generally occurs as a response to tissue damage. Gliosis appears bright on T2 scans upon magnetic resonance imaging, unlike encephalomalacia which follows CSF signal on all sequences. Glial cells, the non-neuronal component of the central nervous system, are divided into microglia and macroglia. The latter are in turn divided into astrocytes, oligodendrocytes, and ependymal cells. The astrocytes and the microglia are the glial cells predominantly responsible for tissue response to injury.
synonym: "Cerebral gliosis" EXACT []
synonym: "Excess astrocytes in brain" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:359580009
xref: SNOMEDCT_US:81415000
xref: UMLS:C0017639
is_a: HP:0100705 ! Abnormal glial cell morphology

[Term]
id: HP:0002172
name: Postural instability
def: "A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps." [PMID:25613349]
synonym: "Abnormal retropulsion test" RELATED []
synonym: "Balance impairment" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Imbalance" RELATED []
xref: UMLS:C1843921
is_a: HP:0100022 ! Abnormality of movement

[Term]
id: HP:0002173
name: Hypoglycemic seizures
xref: UMLS:C0877056
is_a: HP:0001943 ! Hypoglycemia
is_a: HP:0011145 ! Symptomatic seizures

[Term]
id: HP:0002174
name: Postural tremor
alt_id: HP:0006925
alt_id: HP:0007197
def: "A type of tremors that is triggered by holding a limb in a fixed position." [https://orcid.org/0000-0002-0736-9199]
synonym: "Tremor, postural" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:56610005
xref: UMLS:C0234378
is_a: HP:0002345 ! Action tremor

[Term]
id: HP:0002176
name: Spinal cord compression
def: "External mechanical compression of the spinal cord." [https://orcid.org/0000-0002-0736-9199]
comment: Clinical abnormalities vary according to the site of the compression any may comprise pain, weakness, sensory loss, incontinence, and impotence. The compression may be caused by fractures of the spine, neoplasms, abscesses, and other factors.
synonym: "Pressure on spinal cord" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:71286001
xref: UMLS:C0037926
is_a: HP:0002143 ! Abnormal spinal cord morphology

[Term]
id: HP:0002179
name: Opisthotonus
def: "Opisthotonus is defined as a dramatic abnormal posture due to spastic contraction of the extensor muscles of the neck, trunk, and lower extremities that produces a severe backward arching from neck to heel. In most cases, the trunk is elevated off the ground by a few inches. It is usually sudden in onset and can be sustained or repetitive. It can be considered a variant of decerebrate posturing involving a hyperextension of the neck, back, and limbs." [PMID:29972427]
synonym: "Arc de cercle" EXACT []
synonym: "Opisthotonos" EXACT []
xref: SNOMEDCT_US:8652009
xref: UMLS:C0151818
is_a: HP:0001257 ! Spasticity

[Term]
id: HP:0002180
name: Neurodegeneration
def: "Progressive loss of neural cells and tissue." [https://orcid.org/0000-0002-0736-9199]
synonym: "Neuro-degenerative disease" RELATED []
synonym: "Neurodegenerative disease" RELATED []
synonym: "Ongoing loss of nerve cells" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Progressive neurodegenerative disorder" RELATED []
xref: UMLS:C0027746
xref: UMLS:C0524851
xref: UMLS:C4020854
is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system

[Term]
id: HP:0002181
name: Cerebral edema
def: "Abnormal accumulation of fluid in the brain." [https://orcid.org/0000-0002-0736-9199]
comment: Cerebral edema refers to swelling within brain tissue due to the accumulation of fluid, and can occur as in response to almost any insulting agent. Edema canbe observed in and around regions of dead or dying brain, around metastases and abscesses, after traumatic injury, following hypoxic ischemic injury, and around primary brain tumors. There are at least five different types of edema: vasogenic, cytotoxic, hydrostatic, interstitial, and hypoosmotic. Three effects of edema are visible on imaging: (i) loss of gray-white matter differentiation; (ii) swelling of sulci (shrinking of gyri); and (iii) mass effects. On CT scanning, extensive low density may represent vasogenic edema. As the brain swells, not only do the sulci decrease, but all of the CSF spaces of the hemispheres (including the ventricles) decrease as well. Magnetic resonance tomography may show abnormalities of diffusion-weighted imaging (DWI), and Fluid attenuation inversion recovery (FLAIR) sequences. Phenotype terms involving cerebral edema thus reflect inference about the underlying processes responsible for these abnormalities on brain imaging.
synonym: "Brain edema" EXACT []
synonym: "Brain oedema" EXACT uk_spelling []
synonym: "Brain swelling" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Cerebral oedema" EXACT uk_spelling []
synonym: "Swelling of brain" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:2032001
xref: UMLS:C0006114
xref: UMLS:C1527311
is_a: HP:0000969 ! Edema
is_a: HP:0002060 ! Abnormal cerebral morphology

[Term]
id: HP:0002183
name: Phonophobia
def: "An abnormally heightened sensitivity to loud sounds." []
comment: Hyperacusis refers to a general hypersensitivity to sound of any frequency, and phonophobia to an anxious sensitivity towards specific sound largely independent of its volume. Hyperacusis and phonophobia represent disturbances of central auditory processing without peripheral pathology, often combined with psychosomatic reactions. Phonophobia is generally used to refer to discomfort caused by loud sounds rather than 'fear' of sounds as the etymology of the word might suggest.
synonym: "Fear of loud sounds" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
xref: SNOMEDCT_US:313387002
xref: UMLS:C0751466
is_a: HP:5200060 ! Auditory hypersensitivity
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-0736-9199
property_value: terms:contributor https://orcid.org/0000-0002-4142-7153
property_value: terms:contributor https://orcid.org/0000-0002-4422-1708
property_value: terms:contributor https://orcid.org/0000-0003-3777-1389

[Term]
id: HP:0002185
name: Neurofibrillary tangles
alt_id: HP:0003132
alt_id: HP:0007070
def: "Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form." [https://orcid.org/0009-0006-4530-3154, PMID:19652142, PMID:38812098]
synonym: "Neurofibrillary tangles composed of disordered microtubules in neurons" EXACT []
synonym: "NFTs" EXACT abbreviation []
synonym: "Paired helical filaments" EXACT []
synonym: "Tau-positive neurofibrillary tangles" EXACT []
synonym: "Tau-positive tangle" EXACT []
xref: SNOMEDCT_US:85775002
xref: UMLS:C0085400
is_a: HP:0100314 ! Cerebral inclusion bodies

[Term]
id: HP:0002186
name: Apraxia
def: "A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements." []
synonym: "Apraxias" RELATED []
xref: SNOMEDCT_US:68345001
xref: SNOMEDCT_US:6950007
xref: UMLS:C0003635
is_a: HP:0011442 ! Abnormal central motor function

[Term]
id: HP:0002187
name: Intellectual disability, profound
def: "Profound mental retardation is defined as an intelligence quotient (IQ) below 20." [https://orcid.org/0000-0002-0736-9199]
comment: Persons with profound mental retardation generally require constant care.
synonym: "IQ less than 20" EXACT layperson [https://www.merckmanuals.com/home/children-s-health-issues/learning-and-developmental-disorders/intellectual-disability]
synonym: "Mental retardation, profound" EXACT []
synonym: "Profound mental retardation" EXACT []
xref: SNOMEDCT_US:31216003
xref: UMLS:C0020796
xref: UMLS:C3161330
is_a: HP:0001249 ! Intellectual disability

[Term]
id: HP:0002188
name: Delayed CNS myelination
alt_id: HP:0005770
alt_id: HP:0006974
alt_id: HP:0007300
def: "Delayed myelination in the central nervous system." [https://orcid.org/0000-0002-0736-9199]
comment: A delay in the process of myelination, which normally begins in the fifth fetal month and is about 90 percent complete at the age of two years. Myelination continues into early adulthood.
synonym: "Delay in central nervous system myelination" EXACT []
xref: UMLS:C4021758
is_a: HP:0011400 ! Abnormal CNS myelination
is_a: HP:0012448 ! Delayed myelination

[Term]
id: HP:0002189
name: obsolete Excessive daytime sleepiness
is_obsolete: true
replaced_by: HP:0001262

[Term]
id: HP:0002190
name: Choroid plexus cyst
def: "A cyst occurring within the choroid plexus within a cerebral ventricle." [https://orcid.org/0000-0002-0736-9199]
comment: Choroid plexus cysts can be observed on prenatal ultrasound examinations and are associated with a weakly increased risk for fetal chromosome abnormalities such as trisomy 18.
xref: SNOMEDCT_US:230790004
xref: UMLS:C0338597
is_a: HP:0007376 ! Abnormal choroid plexus morphology

[Term]
id: HP:0002191
name: Progressive spasticity
def: "Spasticity that increases in degree with time." [https://orcid.org/0000-0002-0736-9199]
synonym: "Spasticity, progressive" EXACT []
xref: UMLS:C1859520
is_a: HP:0001257 ! Spasticity

[Term]
id: HP:0002193
name: Pseudobulbar affect
def: "Pseudobulbar affect (PBA) is characterized by uncontrolled crying or laughing which may be disproportionate or inappropriate to the social context. Thus, there is a disparity between the patient's emotional expression and his or her emotional experience." [https://orcid.org/0009-0006-4530-3154, PMID:24348042]
comment: Terminology has been varied and somewhat confusing, including involuntary emotional expression disorder, emotional lability, emotional dysregulation, pathological laughter and crying, emotional dysregulation, emotional incontinence, and emotionalism. PBA may be encountered in the setting of amyotrophic lateral sclerosis, extrapyramidal and cerebellar disorders (Parkinson disease, multiple system atrophy, progressive supranuclear palsy), multiple sclerosis, traumatic brain injury, Alzheimer disease and other dementias, stroke, and brain tumors.
synonym: "Pseudobulbar behavioral symptoms" EXACT []
synonym: "Pseudobulbar behavioural symptoms" EXACT uk_spelling []
xref: UMLS:C4025720
is_a: HP:0000708 ! Atypical behavior
is_a: HP:0002200 ! Pseudobulbar signs

[Term]
id: HP:0002194
name: Delayed gross motor development
alt_id: HP:0006905
alt_id: HP:0007046
alt_id: HP:0008973
def: "A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling." [https://orcid.org/0000-0002-0736-9199]
synonym: "Delayed attainment of gross motor milestones" EXACT []
synonym: "Delayed attainment of gross motor skills" EXACT []
synonym: "Delayed development of gross motor milestones" EXACT []
synonym: "Delayed development of gross motor skills" EXACT []
synonym: "Delayed gross motor milestones" EXACT []
synonym: "Delayed gross motor skills" EXACT []
synonym: "Delayed motor skills" EXACT layperson []
synonym: "Developmental delay, gross motor" EXACT []
synonym: "Gross motor delay" EXACT []
synonym: "Limited gross motor development" EXACT []
synonym: "Limited gross motor skills" EXACT []
xref: SNOMEDCT_US:430099007
xref: UMLS:C1837658
is_a: HP:0001270 ! Motor delay

[Term]
id: HP:0002195
name: Dysgenesis of the cerebellar vermis
def: "Defective development of the vermis of cerebellum." [https://orcid.org/0000-0002-0736-9199]
comment: Note that the term cerebellar dysgenesis is generally used to refer to a morphological abnormality of the cerebellum that is of presumed developmental (rather than acquired) origin,and is often diagnosed by means of magnetic resonance tomography.
xref: UMLS:C4025719
is_a: HP:0002334 ! Abnormal cerebellar vermis morphology

[Term]
id: HP:0002196
name: Myelopathy
def: "Myelopathy is an descriptive term, referring to pathology leading to a neurologic deficit related to the spinal cord. The clinical diagnosis of myelopathy requires a detailed history and physical examination to define the clinical syndrome. Neuroimaging is indicated in most instances of new-onset myelopathy. It is indicated also when the worsening of a myelopathy is unexplained." [PMID:27430455]
comment: This is a descriptive term that should not be used for new annotations. If possible, choose a more precise HPO term that describes the actual observed abnormality.The most frequent etiology of myelopathy is related to degenerative disease of the spine. This can be due to compression of the spinal cord by an osteophyte or extruded disc material in the cervical spine or, less often, in the thoracic spine. Subsequent to degenerative etiology, the next common etiologies are spinal cord compression due to extradural masses caused by metastatic disease to bone or blunt trauma. There are also primary neoplastic, infectious, inflammatory, neurodegenerative, vascular, nutritional, and idiopathic disorders that lead to myelopathy.
xref: SNOMEDCT_US:48522003
xref: UMLS:C0037928
is_a: HP:0002143 ! Abnormal spinal cord morphology
is_a: HP:0034238 ! Closed neural tube defect

[Term]
id: HP:0002197
name: Generalized-onset seizure
alt_id: HP:0002409
alt_id: HP:0007114
alt_id: HP:0007339
def: "A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex." [https://orcid.org/0000-0002-0736-9199, PMID:20196795, PMID:23739099, PMID:28276060, PMID:28276064, PMID:6790275]
comment: in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination. Classifying a seizure as having apparently generalized onset does not rule out a focal-onset obscured by limitations of our current clinical methods.
synonym: "Generalised onset seizure" EXACT uk_spelling []
synonym: "Generalised seizures" EXACT uk_spelling []
synonym: "Generalised-onset seizure" EXACT uk_spelling []
synonym: "Generalized onset seizure" EXACT []
synonym: "Generalized seizures" EXACT plural_form []
synonym: "Generalized-onset seizures" EXACT plural_form []
synonym: "Primary generalised seizure" EXACT uk_spelling []
synonym: "Primary generalized seizure" EXACT []
xref: SNOMEDCT_US:246545002
xref: UMLS:C0234533
xref: UMLS:C1833488
is_a: HP:0001250 ! Seizure

[Term]
id: HP:0002198
name: Dilated fourth ventricle
alt_id: HP:0007223
def: "An abnormal dilatation of the fourth cerebral ventricle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlarged fourth ventricle" EXACT []
xref: UMLS:C1847117
is_a: HP:0002119 ! Ventriculomegaly
is_a: HP:0010950 ! Abnormal fourth ventricle morphology

[Term]
id: HP:0002199
name: Hypocalcemic seizures
synonym: "Low calcium seizures" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Seizures due to hypocalcemia" EXACT []
xref: UMLS:C1855841
is_a: HP:0002901 ! Hypocalcemia
is_a: HP:0011145 ! Symptomatic seizures

[Term]
id: HP:0002200
name: Pseudobulbar signs
def: "Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc." [https://orcid.org/0009-0006-4530-3154]
synonym: "Pseudobulbar symptoms" EXACT []
xref: UMLS:C1838579
is_a: HP:0012638 ! Abnormal nervous system physiology

[Term]
id: HP:0002202
name: Pleural effusion
def: "The presence of an excessive amount of fluid in the pleural cavity." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fluid around lungs" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:60046008
xref: UMLS:C0032227
is_a: HP:0000969 ! Edema
is_a: HP:0002103 ! Abnormal pleura morphology

[Term]
id: HP:0002203
name: Respiratory paralysis
def: "Inability to move the muscles of respiration." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:64228003
xref: UMLS:C0035232
is_a: HP:0003470 ! Paralysis
is_a: HP:0004347 ! Weakness of muscles of respiration

[Term]
id: HP:0002204
name: Pulmonary embolism
def: "An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery." []
synonym: "Blood clot in artery of lung" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:59282003
xref: UMLS:C0034065
is_a: HP:0030875 ! Abnormality of pulmonary circulation

[Term]
id: HP:0002205
name: Recurrent respiratory infections
alt_id: HP:0002782
alt_id: HP:0002873
def: "An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections." [https://orcid.org/0000-0002-0736-9199]
synonym: "Frequent respiratory infections" EXACT layperson []
synonym: "Multiple respiratory infections" EXACT layperson []
synonym: "Recurrent respiratory infections" EXACT layperson []
synonym: "respiratory infections, recurrent" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Susceptibility to respiratory infections" EXACT layperson []
xref: UMLS:C3806482
is_a: HP:0002719 ! Recurrent infections
is_a: HP:0011947 ! Respiratory tract infection

[Term]
id: HP:0002206
name: Pulmonary fibrosis
alt_id: HP:0006523
def: "Replacement of normal lung tissues by fibroblasts and collagen." [HPO_CONTRIBUTOR:DDD_tkuijpers, https://orcid.org/0000-0002-0736-9199]
comment: Pulmonary fibrosis leads to an irreversible impairment of alveolar oxygen transfer.
xref: SNOMEDCT_US:51615001
xref: UMLS:C0034069
is_a: HP:0006530 ! Abnormal pulmonary interstitial morphology

[Term]
id: HP:0002207
name: Diffuse reticular or finely nodular infiltrations
xref: UMLS:C1843428
is_a: HP:0002113 ! Pulmonary infiltrates

[Term]
id: HP:0002208
name: Coarse hair
alt_id: HP:0200078
def: "Hair shafts are rough in texture." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Coarse hair" EXACT layperson []
synonym: "Coarse hair texture" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Rough hair texture" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:48610005
xref: UMLS:C0277959
xref: UMLS:C4072834
is_a: HP:0010719 ! Abnormality of hair texture

[Term]
id: HP:0002209
name: Sparse scalp hair
alt_id: HP:0002233
alt_id: HP:0002556
alt_id: HP:0004526
alt_id: HP:0004534
alt_id: HP:0004541
alt_id: HP:0004542
alt_id: HP:0004772
alt_id: HP:0004774
alt_id: HP:0004775
alt_id: HP:0004782
def: "Decreased number of hairs per unit area of skin of the scalp." [PMID:19125436, PMID:28061825]
comment: Hypotrichosis should not be used as a synonym as, formally, it means underdevelopment of the hair. No normal values for number of hairs per unit area exist.
synonym: "Decreased number of scalp follicles" EXACT []
synonym: "Hypotrichosis on scalp" EXACT []
synonym: "Reduced amount of scalp hair" EXACT layperson []
synonym: "Reduced/lack of hair on scalp" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Reduction in the number of scalp follicles" EXACT []
synonym: "Scalp hypotrichosis" EXACT []
synonym: "Sparse scalp hair" EXACT layperson []
synonym: "Thin scalp hair" RELATED layperson []
synonym: "Thinning scalp hair" EXACT layperson []
xref: UMLS:C1857042
xref: UMLS:C1873509
is_a: HP:0008070 ! Sparse hair
is_a: HP:0100037 ! Abnormality of the scalp hair

[Term]
id: HP:0002211
name: White forelock
def: "A triangular depigmented region of white hairs located in the anterior midline of the scalp." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Poliosis of anterior hair" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Poliosis of forelock hair" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "White part of hair above forehead" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:247564004
xref: UMLS:C0344312
is_a: HP:0011365 ! Patchy hypopigmentation of hair

[Term]
id: HP:0002212
name: Curly hair
synonym: "Curly hair" EXACT layperson []
xref: SNOMEDCT_US:225570000
xref: UMLS:C0558165
is_a: HP:0010719 ! Abnormality of hair texture

[Term]
id: HP:0002213
name: Fine hair
alt_id: HP:0200132
def: "Hair that is fine or thin to the touch." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Fine hair" EXACT layperson []
synonym: "Fine hair shaft" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Fine hair texture" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thin hair" EXACT []
synonym: "Thin hair shaft" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thin hair texture" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thinned hair" EXACT []
xref: SNOMEDCT_US:247546006
xref: UMLS:C0423867
is_a: HP:0010719 ! Abnormality of hair texture

[Term]
id: HP:0002215
name: Sparse axillary hair
alt_id: HP:0004514
alt_id: HP:0004518
alt_id: HP:0004545
def: "Reduced number or density of axillary hair." [https://orcid.org/0000-0002-0736-9199]
synonym: "Limited armpit hair" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Little underarm hair" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Sparse axillary and pubic hair" BROAD []
synonym: "Sparse scalp, axillary, and pubic hair" BROAD []
synonym: "sparse to absent axillary hair" EXACT []
xref: UMLS:C1858574
is_a: HP:0008070 ! Sparse hair
is_a: HP:0100134 ! Abnormality of the axillary hair

[Term]
id: HP:0002216
name: Premature graying of hair
def: "Development of gray hair at a younger than normal age." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Early graying" EXACT layperson []
synonym: "Early greying" EXACT uk_spelling []
synonym: "Premature graying" EXACT layperson []
synonym: "Premature graying of hair" EXACT layperson []
synonym: "Premature graying of the hair" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Premature greying" EXACT uk_spelling []
synonym: "Premature greying of hair" EXACT uk_spelling []
synonym: "Premature greying of the hair" RELATED uk_spelling []
synonym: "Premature hair graying" EXACT layperson []
synonym: "Premature hair greying" EXACT uk_spelling []
xref: SNOMEDCT_US:387833009
xref: UMLS:C0263498
is_a: HP:0007495 ! Prematurely aged appearance
is_a: HP:0009887 ! Abnormality of hair pigmentation

[Term]
id: HP:0002217
name: Slow-growing hair
alt_id: HP:0004767
alt_id: HP:0004770
alt_id: HP:0004781
def: "Hair whose growth is slower than normal." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Delayed hair growth" EXACT []
synonym: "Poor hair growth" EXACT []
synonym: "Slow growing hair" EXACT layperson []
synonym: "Slow rate of hair growth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Slow speed of hair growth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Slow-growing hair" EXACT layperson []
xref: UMLS:C1832348
is_a: HP:0011363 ! Abnormality of hair growth rate

[Term]
id: HP:0002218
name: Silver-gray hair
def: "Hypopigmented hair that appears silver-gray." [https://orcid.org/0000-0002-0736-9199]
synonym: "Silver-gray hair" EXACT layperson []
synonym: "Silver-gray hair color" EXACT layperson []
synonym: "Silver-gray hair colour" EXACT uk_spelling []
synonym: "Silvery-gray hair" EXACT layperson []
xref: UMLS:C1836576
is_a: HP:0011358 ! Generalized hypopigmentation of hair

[Term]
id: HP:0002219
name: Facial hypertrichosis
def: "Excessive, increased hair growth located in the facial region." []
synonym: "Increased facial hair growth" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1851400
is_a: HP:0000998 ! Hypertrichosis

[Term]
id: HP:0002220
name: Melanin pigment aggregation in hair shafts
xref: UMLS:C1843390
is_a: HP:0009887 ! Abnormality of hair pigmentation

[Term]
id: HP:0002221
name: Absent axillary hair
alt_id: HP:0004549
def: "Absence of axillary hair." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1859392
is_a: HP:0002298 ! Absent hair
is_a: HP:0100134 ! Abnormality of the axillary hair

[Term]
id: HP:0002223
name: Absent eyebrow
def: "Absence of the eyebrow." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Absent eyebrow" EXACT layperson []
synonym: "Absent eyebrows" EXACT []
synonym: "Agenesis of eyebrows" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Aplasia of eyebrows" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of eyebrows" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Loss of eyebrows" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing eyebrows" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:253208007
xref: SNOMEDCT_US:422441003
xref: UMLS:C0431448
xref: UMLS:C0578682
xref: UMLS:C4280581
xref: UMLS:C4280582
is_a: HP:0002298 ! Absent hair
is_a: HP:0100840 ! Aplasia/Hypoplasia of the eyebrow

[Term]
id: HP:0002224
name: Woolly hair
def: "The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter." [PMID:20464096]
comment: See figures in PMID:20464096.
subset: hposlim_core
synonym: "Afro-textured hair" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Kinked hair" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Kinky hair texture" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Nappy hair texture" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Wooly hair" EXACT []
xref: MEDDRA:10048017 "Wooly hair"
xref: SNOMEDCT_US:52564001
xref: UMLS:C0343073
xref: UMLS:C4072835
xref: UMLS:C4072836
xref: UMLS:C4073292
is_a: HP:0010719 ! Abnormality of hair texture

[Term]
id: HP:0002225
name: Sparse pubic hair
alt_id: HP:0004778
def: "Reduced number or density of pubic hair." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Decreased sexual hair" EXACT layperson []
synonym: "Sparse pubic hair" EXACT layperson []
synonym: "sparse to absent pubic hair" EXACT []
xref: UMLS:C1858573
is_a: HP:0008070 ! Sparse hair
is_a: HP:0100133 ! Abnormality of the pubic hair

[Term]
id: HP:0002226
name: White eyebrow
alt_id: HP:0002228
alt_id: HP:0004536
def: "White color (lack of pigmentation) of the eyebrow." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Blonde eyebrow" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Depigmented eyebrow" EXACT []
synonym: "Grey eyebrow" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypopigmented eyebrow" EXACT []
synonym: "Pale eyebrow" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "White eyebrow" EXACT layperson []
xref: UMLS:C1836737
xref: UMLS:C4280579
xref: UMLS:C4280580
is_a: HP:0000534 ! Abnormal eyebrow morphology
is_a: HP:0009887 ! Abnormality of hair pigmentation

[Term]
id: HP:0002227
name: White eyelashes
def: "White color (lack of pigmentation) of the eyelashes." [https://orcid.org/0000-0003-1773-4011]
synonym: "Blonde eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Depigmented eyelashes" EXACT []
synonym: "Grey eyelashes" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Pale eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "White eyelashes" EXACT layperson []
xref: UMLS:C1836736
xref: UMLS:C4280578
is_a: HP:0000499 ! Abnormal eyelash morphology
is_a: HP:0009887 ! Abnormality of hair pigmentation

[Term]
id: HP:0002229
name: obsolete Alopecia areata
is_obsolete: true
replaced_by: HP:0002232

[Term]
id: HP:0002230
name: Generalized hirsutism
def: "Abnormally increased hair growth over much of the entire body." [https://orcid.org/0000-0002-0736-9199]
synonym: "Excessive hairiness over body" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Generalised hirsutism" EXACT uk_spelling []
xref: UMLS:C1849211
is_a: HP:0001007 ! Hirsutism

[Term]
id: HP:0002231
name: Sparse body hair
def: "Sparseness of the body hair." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Limited body hair" EXACT []
synonym: "Little body hair" EXACT []
synonym: "Sparse body hair" EXACT layperson []
synonym: "Sparse to absent body hair" EXACT []
xref: UMLS:C1862863
is_a: HP:0008070 ! Sparse hair

[Term]
id: HP:0002232
name: Patchy alopecia
alt_id: HP:0002229
def: "Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches." []
synonym: "Alopecia areata" EXACT []
synonym: "Patchy baldness" EXACT layperson []
xref: SNOMEDCT_US:68225006
xref: UMLS:C0002171
xref: UMLS:C1862862
is_a: HP:0001596 ! Alopecia
is_a: HP:0011360 ! Acquired abnormal hair pattern

[Term]
id: HP:0002234
name: Early balding
def: "Loss of scalp hair at an earlier than normal age." [https://orcid.org/0000-0002-0736-9199]
synonym: "Early balding" EXACT layperson []
xref: UMLS:C4025718
is_a: HP:0011360 ! Acquired abnormal hair pattern

[Term]
id: HP:0002235
name: Pili canaliculi
alt_id: HP:0002285
def: "A characteristic triangular, kidney- or heat-shaped diameter of hair shafts with typical longitudinal canalicular deformation as observable by scanning electron microscopy." [https://orcid.org/0000-0002-0736-9199, PMID:8274794]
xref: UMLS:C1860608
is_a: HP:0003328 ! Abnormal hairshaft morphology

[Term]
id: HP:0002236
name: Frontal upsweep of hair
def: "Upward and/or sideward growth of anterior hair." [PMID:19125436]
subset: hposlim_core
synonym: "Cowlick" EXACT layperson []
synonym: "Frontal Cowlick" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Frontal upsweep of hair" EXACT layperson []
synonym: "Upswept frontal hair" EXACT layperson []
synonym: "Upswept frontal hair pattern" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Upswept frontal hairline" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1185616
xref: UMLS:C2675540
xref: UMLS:C3275754
is_a: HP:0010721 ! Abnormal hair whorl

[Term]
id: HP:0002239
name: Gastrointestinal hemorrhage
def: "Hemorrhage affecting the gastrointestinal tract." [https://orcid.org/0000-0002-0736-9199]
synonym: "Gastrointestinal bleeding" EXACT layperson []
synonym: "Gastrointestinal haemorrhage" EXACT uk_spelling []
synonym: "GI haemorrhage" EXACT uk_spelling []
synonym: "GI hemorrhage" EXACT abbreviation []
xref: SNOMEDCT_US:74474003
xref: UMLS:C0017181
is_a: HP:0011029 ! Internal hemorrhage
is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract

[Term]
id: HP:0002240
name: Hepatomegaly
alt_id: HP:0001393
alt_id: HP:0001398
def: "Abnormally increased size of the liver." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlarged liver" EXACT layperson []
xref: SNOMEDCT_US:80515008
xref: UMLS:C0019209
is_a: HP:0003271 ! Visceromegaly
is_a: HP:0410042 ! Abnormal liver morphology

[Term]
id: HP:0002242
name: Abnormal intestine morphology
alt_id: HP:0002628
def: "An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the intestine" EXACT layperson []
synonym: "Enteropathy" EXACT []
xref: SNOMEDCT_US:85919009
xref: UMLS:C0021831
is_a: HP:0012718 ! Abnormal gastrointestinal tract morphology

[Term]
id: HP:0002243
name: Protein-losing enteropathy
def: "Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract." [https://orcid.org/0000-0002-0736-9199]
comment: Affected individuals may present with peripheral edema, diarrhea with or without bleeding, abdominal pain, and/or weight loss. Protein-losing enteropathy is not a disease but is a manifestation of a number of gastrointestinal diseases and can be related to factors such as lymphatic obstruction, mucosal disease with erosions, ulcerations, or increased mucosal permeability to proteins.
xref: SNOMEDCT_US:22542007
xref: SNOMEDCT_US:66972006
xref: UMLS:C0033680
is_a: HP:0002244 ! Abnormal small intestine morphology

[Term]
id: HP:0002244
name: Abnormal small intestine morphology
def: "A structural abnormality of the small intestine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the small intestine" EXACT []
xref: UMLS:C4025717
is_a: HP:0002242 ! Abnormal intestine morphology

[Term]
id: HP:0002245
name: Meckel diverticulum
def: "Meckel's diverticulum is a congenital diverticulum located in the distal ileum." [https://orcid.org/0000-0002-0736-9199]
xref: MEDDRA:10027055 "Meckel's diverticulum"
xref: SNOMEDCT_US:127962001
xref: SNOMEDCT_US:37373007
xref: UMLS:C0025037
is_a: HP:0001549 ! Abnormal ileum morphology

[Term]
id: HP:0002246
name: Abnormal duodenum morphology
def: "An abnormality of the duodenum, i.e., the first section of the small intestine." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the duodenum" EXACT []
xref: UMLS:C4025716
is_a: HP:0002244 ! Abnormal small intestine morphology

[Term]
id: HP:0002247
name: Duodenal atresia
def: "A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Absence or narrowing of first part of small bowel" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: Fyler:4406
xref: MEDDRA:10013812 "Duodenal atresia"
xref: SNOMEDCT_US:51118003
xref: UMLS:C0266174
is_a: HP:0002246 ! Abnormal duodenum morphology
is_a: HP:0011100 ! Intestinal atresia

[Term]
id: HP:0002248
name: Hematemesis
def: "The vomiting of blood." [https://orcid.org/0000-0002-0736-9199]
comment: The source of hematemesis is generally the upper gastrointestinal tract.
synonym: "Vomiting blood" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:8765009
xref: UMLS:C0018926
is_a: HP:0002239 ! Gastrointestinal hemorrhage

[Term]
id: HP:0002249
name: Melena
def: "The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding." [https://orcid.org/0000-0002-0736-9199]
synonym: "Black faeces" NARROW uk_spelling []
synonym: "Black feces" NARROW layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:249627005
xref: SNOMEDCT_US:267055007
xref: SNOMEDCT_US:269899009
xref: SNOMEDCT_US:2901004
xref: SNOMEDCT_US:35064005
xref: UMLS:C0025222
xref: UMLS:C0474585
is_a: HP:0002239 ! Gastrointestinal hemorrhage
is_a: HP:0025085 ! Bloody diarrhea

[Term]
id: HP:0002250
name: Abnormal large intestine morphology
def: "Any abnormality of the large intestine." [https://orcid.org/0000-0002-0736-9199]
comment: The large intestine comprises the cecum and colon.
synonym: "Abnormality of the large intestine" EXACT layperson []
xref: UMLS:C4025715
is_a: HP:0002242 ! Abnormal intestine morphology

[Term]
id: HP:0002251
name: Aganglionic megacolon
alt_id: HP:0002029
alt_id: HP:0002030
alt_id: HP:0002606
alt_id: HP:0004391
def: "An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon." [https://orcid.org/0000-0002-0736-9199, PMID:17965226]
comment: Aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract.
subset: hposlim_core
synonym: "Enlarged colon lacking nerve cells" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Hirschsprung disease" RELATED []
synonym: "Hirschsprung megacolon" EXACT []
is_a: HP:0004362 ! Abnormal enteric ganglion morphology
is_a: HP:6000852 ! Megacolon

[Term]
id: HP:0002253
name: Colonic diverticula
alt_id: HP:0005860
def: "The presence of multiple diverticula of the colon." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Colon diverticula" RELATED []
synonym: "Colonic diverticulosis" EXACT []
xref: MEDDRA:10009993 "Colonic diverticulosis"
xref: SNOMEDCT_US:398050005
xref: UMLS:C0012811
xref: UMLS:C0012819
is_a: HP:0002250 ! Abnormal large intestine morphology
is_a: HP:0005222 ! Bowel diverticulosis

[Term]
id: HP:0002254
name: Intermittent diarrhea
def: "Repeated episodes of diarrhea separated by periods without diarrhea." []
synonym: "Episodic diarrhea" EXACT []
synonym: "Episodic diarrhoea" EXACT uk_spelling []
synonym: "Intermittent diarrhoea" EXACT uk_spelling []
xref: UMLS:C0239181
is_a: HP:0002014 ! Diarrhea

[Term]
id: HP:0002256
name: Small bowel diverticula
subset: hposlim_core
xref: MEDDRA:10013533 "Diverticula of small intestine"
xref: SNOMEDCT_US:8114009
xref: UMLS:C0267498
is_a: HP:0002244 ! Abnormal small intestine morphology
is_a: HP:0005222 ! Bowel diverticulosis

[Term]
id: HP:0002257
name: Chronic rhinitis
def: "Chronic inflammation of the nasal mucosa." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:86094006
xref: UMLS:C0008711
is_a: HP:0012384 ! Rhinitis

[Term]
id: HP:0002263
name: Exaggerated cupid's bow
def: "More pronounced paramedian peaks and median notch of the Cupid's bow." [PMID:19125428]
comment: This may be associated with a Deep philtrum, but that finding should be coded separately.
subset: hposlim_core
synonym: "Cupid bow upper lip" EXACT layperson []
synonym: "Cupid's bow, accentuated" EXACT []
synonym: "Cupid-bow shaped upper lip" EXACT layperson []
synonym: "Exaggerated cupid's bow" EXACT layperson []
synonym: "Prominent cupid-bow of upper lip" EXACT layperson []
xref: UMLS:C1850629
is_a: HP:0011339 ! Abnormality of upper lip vermillion

[Term]
id: HP:0002265
name: Large fleshy ears
synonym: "Large fleshy ears" EXACT layperson []
xref: UMLS:C3808403
is_a: HP:0000400 ! Macrotia

[Term]
id: HP:0002266
name: Focal clonic seizure
def: "A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive." [https://orcid.org/0000-0002-1735-8178, PMID:11580774, PMID:28276060, PMID:28276064]
comment: The movement involves sustained rhythmic jerking, this may involve a limb, half the face or one side of the body, and may spread according to a Jacksonian march: The jerking may spread to involve parts of the body according to their representation on the motor cortex (according to the homunculus).
synonym: "Focal clonic seizures" EXACT plural_form []
synonym: "Localised clonic seizure" EXACT uk_spelling []
synonym: "Localized clonic seizure" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Partial clonic seizure" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Segmental clonic seizure" EXACT []
xref: UMLS:C0752323
is_a: HP:0011153 ! Focal motor seizure
is_a: HP:0020221 ! Clonic seizure

[Term]
id: HP:0002267
name: Exaggerated startle response
def: "An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face." [https://orcid.org/0000-0002-0736-9199]
synonym: "Exaggerated acoustic startle response" EXACT []
synonym: "Hyperekplexia" RELATED []
synonym: "Increased startle response" EXACT []
xref: SNOMEDCT_US:19557000
xref: UMLS:C0234166
xref: UMLS:C1740801
xref: UMLS:C1836014
xref: UMLS:C1848918
is_a: HP:0002071 ! Abnormality of extrapyramidal motor function

[Term]
id: HP:0002268
name: Paroxysmal dystonia
alt_id: HP:0002412
def: "A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Episodic dystonia" EXACT []
xref: SNOMEDCT_US:230310003
xref: UMLS:C0393588
is_a: HP:0001332 ! Dystonia

[Term]
id: HP:0002269
name: Abnormality of neuronal migration
alt_id: HP:0007317
def: "An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal neuronal migration" EXACT []
synonym: "Heterotopias/abnormal migration" EXACT []
synonym: "Migrational brain disorder" EXACT []
synonym: "Neuronal migration disorder" EXACT []
xref: UMLS:C1837249
is_a: HP:0002011 ! Morphological central nervous system abnormality

[Term]
id: HP:0002270
name: Abnormality of the autonomic nervous system
def: "An abnormality of the autonomic nervous system." [https://orcid.org/0000-0002-0736-9199]
comment: The autonomic nervous system is the part of the peripheral nervous system that controls visceral functions such as heart rate and digestion and functions largely below the level of consciousness.
xref: UMLS:C4025714
is_a: HP:0410008 ! Abnormality of the peripheral nervous system

[Term]
id: HP:0002271
name: obsolete Autonomic dysregulation
is_obsolete: true
replaced_by: HP:0012332

[Term]
id: HP:0002273
name: Tetraparesis
alt_id: HP:0002338
def: "Weakness of all four limbs." [https://orcid.org/0000-0002-0736-9199]
comment: Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength.
synonym: "Quadriparesis" EXACT []
xref: SNOMEDCT_US:91327001
xref: UMLS:C0270790
is_a: HP:0030182 ! Tetraplegia/tetraparesis

[Term]
id: HP:0002275
name: Poor motor coordination
synonym: "Poor motor coordination" EXACT layperson []
xref: UMLS:C1848453
is_a: HP:0011443 ! Abnormality of coordination

[Term]
id: HP:0002277
name: Horner syndrome
alt_id: HP:0000596
def: "An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection." [https://orcid.org/0000-0002-0736-9199]
comment: Ptosis, miosis, and occasionally apparent enophthalmos and anhidrosis on one side of the face, loss of ciliospinal reflex and blood shot conjunctiva.
synonym: "Horner's syndrome" EXACT []
synonym: "Oculosympathetic palsy" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:12731000
xref: SNOMEDCT_US:192915005
xref: SNOMEDCT_US:271730003
xref: UMLS:C0019937
is_a: HP:0000508 ! Ptosis
is_a: HP:0000616 ! Miosis
is_a: HP:0012332 ! Abnormal autonomic nervous system physiology

[Term]
id: HP:0002280
name: Enlarged cisterna magna
def: "Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata." [https://orcid.org/0000-0002-0736-9199]
comment: Cerebrospinal fluid produced in the fourth ventricle drains into the cisterna magna via the lateral apertures and median aperture.
synonym: "Large cisterna magna" EXACT []
synonym: "Mega cisterna magna" RELATED []
xref: UMLS:C1853377
is_a: HP:0005445 ! Enlarged posterior fossa

[Term]
id: HP:0002281
name: obsolete Gray matter heterotopias
is_obsolete: true
replaced_by: HP:0002282

[Term]
id: HP:0002282
name: Gray matter heterotopia
alt_id: HP:0002281
alt_id: HP:0007314
def: "Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter." [http://www.wikidata.org/entity/Q90573458, https://orcid.org/0000-0001-5208-3432, PMID:22427329, PMID:25180909, PMID:7524438]
comment: Gray matter heterotopia is caused by clumps of gray matter being located in the wrong part of the brain. It is characterized as a type of cortical malformation. The neurons in heterotopia may appear to be normal, except for their mislocation; nuclear studies have shown glucose metabolism equal to that of normally positioned gray matter. The condition causes a variety of symptoms, but usually includes some degree of epilepsy or recurring seizures, and often affects the brain's ability to function on higher levels. Symptoms range from nonexistent to profound, in which case heterotopia can result in severe seizure disorder, loss of motor skills, and mental retardation. Neuronal heterotopia consists of gray matter within the white matter, and the term gray matter heterotopia is more frequently used.
synonym: "Gray matter heterotopias" EXACT plural_form []
synonym: "Grey matter heterotopia" EXACT uk_spelling []
synonym: "Grey matter heterotopias" EXACT uk_spelling []
synonym: "Heterotopia" EXACT []
synonym: "Heterotopias" EXACT plural_form []
synonym: "Neuronal heterotopia" EXACT []
xref: SNOMEDCT_US:128490007
xref: SNOMEDCT_US:416286003
xref: SNOMEDCT_US:417338002
xref: UMLS:C0008519
is_a: HP:0002269 ! Abnormality of neuronal migration

[Term]
id: HP:0002283
name: Global brain atrophy
alt_id: HP:0002369
alt_id: HP:0002462
def: "Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size." [https://orcid.org/0009-0006-4530-3154]
comment: Global brain atrophy can be visualized and quantified by magnetic resonance imaging.
synonym: "Diffuse brain atrophy" EXACT []
synonym: "Generalised brain atrophy" EXACT uk_spelling []
synonym: "Generalised brain degeneration" EXACT uk_spelling []
synonym: "Generalised cerebral atrophy" EXACT uk_spelling []
synonym: "Generalized brain atrophy" EXACT []
synonym: "Generalized brain degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Generalized cerebral atrophy" EXACT []
xref: UMLS:C0241816
is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system
is_a: HP:0012444 ! Brain atrophy

[Term]
id: HP:0002286
name: Fair hair
alt_id: HP:0002214
alt_id: HP:0002294
def: "A lesser degree of hair pigmentation than would otherwise be expected." [https://orcid.org/0000-0003-1773-4011]
comment: For instance, in Angelman syndrome, reduced expression of the gene OCA2 is associated with light-colored hair and fair skin, such that affected children often have noticeably fairer hair than their unaffected relatives.
synonym: "Blond hair" EXACT layperson []
synonym: "Fair hair" EXACT layperson []
synonym: "Fair hair color" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Fair hair colour" EXACT uk_spelling []
synonym: "Flaxen hair color" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Flaxen hair colour" EXACT uk_spelling []
synonym: "Light colored hair" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Light coloured hair" EXACT uk_spelling []
synonym: "Sandy hair color" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Sandy hair colour" EXACT uk_spelling []
synonym: "Straw colored hair" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Straw coloured hair" EXACT uk_spelling []
synonym: "Towhead (hair color)" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:297995004
xref: UMLS:C0239801
xref: UMLS:C1849221
is_a: HP:0011358 ! Generalized hypopigmentation of hair

[Term]
id: HP:0002287
name: Progressive alopecia
def: "Progressive loss of hair." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1851885
is_a: HP:0001596 ! Alopecia

[Term]
id: HP:0002289
name: Alopecia universalis
alt_id: HP:0004550
def: "Loss of all hair on the entire body." [https://orcid.org/0000-0002-0736-9199]
synonym: "Alopecia, complete" EXACT []
synonym: "Universal alopecia" RELATED []
xref: SNOMEDCT_US:86166000
xref: UMLS:C0263505
is_a: HP:0001596 ! Alopecia

[Term]
id: HP:0002290
name: Poliosis
def: "Circumscribed depigmentation of the hair of the head or the eyelashes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Patch of white hair" EXACT layperson []
synonym: "White patch" EXACT layperson []
xref: SNOMEDCT_US:14240001
xref: UMLS:C0221262
is_a: HP:0011365 ! Patchy hypopigmentation of hair

[Term]
id: HP:0002292
name: Frontal balding
def: "Absence of hair in the anterior midline and/or parietal areas." [PMID:19125436]
subset: hposlim_core
synonym: "Frontal balding" EXACT layperson []
synonym: "Male pattern baldness" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:87872006
xref: UMLS:C1864584
xref: UMLS:C4083212
is_a: HP:0011360 ! Acquired abnormal hair pattern

[Term]
id: HP:0002293
name: Alopecia of scalp
alt_id: HP:0200115
synonym: "Absence of scalp hair" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Baldness" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing scalp hair" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Pathologic hair loss from scalp" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Scalp hair loss" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:278040002
xref: SNOMEDCT_US:298000004
xref: SNOMEDCT_US:56317004
xref: UMLS:C0002170
xref: UMLS:C0574769
xref: UMLS:C1850535
is_a: HP:0001596 ! Alopecia
is_a: HP:0100037 ! Abnormality of the scalp hair

[Term]
id: HP:0002296
name: Progressive hypotrichosis
def: "Progressively reduced or lacking hair growth." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1857048
is_a: HP:0008070 ! Sparse hair

[Term]
id: HP:0002297
name: Red hair
synonym: "Ginger hair color" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Ginger hair colour" BROAD uk_spelling []
synonym: "Red hair" EXACT layperson []
synonym: "Red hair color" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Red hair colour" EXACT uk_spelling []
synonym: "Red head (hair color)" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:297997007
xref: UMLS:C0239803
is_a: HP:0009887 ! Abnormality of hair pigmentation

[Term]
id: HP:0002298
name: Absent hair
alt_id: HP:0004548
synonym: "Absent hair" EXACT layperson []
xref: SNOMEDCT_US:297991008
xref: UMLS:C0574763
is_a: HP:0011362 ! Abnormal hair quantity

[Term]
id: HP:0002299
name: Brittle hair
def: "Fragile, easily breakable hair, i.e., with reduced tensile strength." [https://orcid.org/0000-0003-1773-4011]
comment: Brittle is used to describe hair which is very short because of an abnormality is in the structure of the shaft. Microscopically the ends appear fractured. Affected patients may report bits of hair on the collar or pillow. Brittle hair can be distinguished from hypotrichosis due to slow or deficient growth (e.g., due to hypotrichosis simplex) and hypotrichosis due to the hair being fine and soft where the hair just wears out too quickly (e.g., due to ectodermal dysplasia).
synonym: "Brittle hair" EXACT layperson []
synonym: "Easily breakable hair" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Fractured hair" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Fragile hair" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Reduced tensile strength of hair" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:25159003
xref: UMLS:C0263490
xref: UMLS:C1851868
xref: UMLS:C1970705
xref: UMLS:C4072837
is_a: HP:0010719 ! Abnormality of hair texture

[Term]
id: HP:0002300
name: Mutism
def: "Complete lack of speech or verbal communication in a person despite attempts to engage in conversation. Mutism as a phenomena assumes the individual has previous capacity for speech and in the pediatric population it assumes that the person is past the age of typical language development." [PMID:26709680]
synonym: "Inability to speak" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Muteness" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:88052002
xref: UMLS:C0026884
is_a: HP:0002167 ! Abnormal speech pattern
property_value: terms:contributor https://orcid.org/0000-0001-5395-5036
property_value: terms:contributor https://orcid.org/0000-0001-6886-767X
property_value: terms:contributor https://orcid.org/0000-0001-8423-2623
property_value: terms:contributor https://orcid.org/0000-0001-9114-8737
property_value: terms:contributor https://orcid.org/0000-0002-0375-6247
property_value: terms:contributor https://orcid.org/0000-0002-2414-5605
property_value: terms:contributor https://orcid.org/0000-0002-4487-3589

[Term]
id: HP:0002301
name: Hemiplegia
def: "Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body." [https://orcid.org/0000-0002-0736-9199]
synonym: "Paralysis on one side of body" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:50582007
xref: UMLS:C0018991
is_a: HP:0004374 ! Hemiplegia/hemiparesis

[Term]
id: HP:0002304
name: Akinesia
def: "Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily." [https://orcid.org/0000-0002-0736-9199]
comment: Akinesia is a typical extrapyramidal abnormality.
xref: SNOMEDCT_US:33994004
xref: UMLS:C0085623
is_a: HP:0002374 ! Diminished movement

[Term]
id: HP:0002305
name: Athetosis
alt_id: HP:0007167
alt_id: HP:0007316
def: "A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest." [https://orcid.org/0000-0002-0736-9199, PMID:20589866]
comment: Athetosis derives from the Greek word for 'changeable' or 'unfixed'.
synonym: "Athetoid movements" EXACT []
synonym: "Involuntary writhing movements" EXACT []
synonym: "Involuntary writhing movements in fingers, hands, toes, and feet" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:44913001
xref: SNOMEDCT_US:58593005
xref: UMLS:C0004158
xref: UMLS:C1845265
is_a: HP:0004305 ! Involuntary movements

[Term]
id: HP:0002307
name: Drooling
def: "Habitual flow of saliva out of the mouth." [https://orcid.org/0000-0002-0736-9199, PMID:15202698]
synonym: "Dribbling" EXACT layperson []
synonym: "Drooling" EXACT layperson []
synonym: "Sialorrhea" EXACT [https://orcid.org/0009-0006-4530-3154]
xref: SNOMEDCT_US:275295002
xref: SNOMEDCT_US:53827007
xref: SNOMEDCT_US:62718007
xref: UMLS:C0013132
xref: UMLS:C0037036
is_a: HP:0003781 ! Excessive salivation

[Term]
id: HP:0002308
name: Chiari malformation
def: "Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow." [https://orcid.org/0000-0002-0736-9199, PMID:28613730]
synonym: "Arnold-Chiari malformation" EXACT []
synonym: "Cerebellar tonsillar ectopia" EXACT []
xref: SNOMEDCT_US:253184003
xref: UMLS:C0003803
is_a: HP:0002438 ! Cerebellar malformation

[Term]
id: HP:0002310
name: Orofacial dyskinesia
synonym: "Orofacial dyskinesias" EXACT []
xref: SNOMEDCT_US:49386006
xref: UMLS:C0152115
is_a: HP:0100660 ! Dyskinesia

[Term]
id: HP:0002311
name: Incoordination
alt_id: HP:0002276
synonym: "Difficulties in coordination" EXACT layperson []
synonym: "Incoordination" EXACT layperson []
synonym: "Incoordination of limb movements" EXACT layperson []
synonym: "Limb incoordination" EXACT layperson []
xref: SNOMEDCT_US:281016006
xref: SNOMEDCT_US:302289002
xref: UMLS:C0520966
is_a: HP:0011443 ! Abnormality of coordination

[Term]
id: HP:0002312
name: Clumsiness
def: "Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects." [https://orcid.org/0000-0002-0736-9199]
synonym: "Clumsiness" EXACT layperson []
xref: SNOMEDCT_US:7006003
xref: UMLS:C0233844
is_a: HP:0002311 ! Incoordination

[Term]
id: HP:0002313
name: Spastic paraparesis
alt_id: HP:0007191
def: "Partial loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs." [PMID:19277459]
xref: SNOMEDCT_US:312444006
xref: UMLS:C0037771
is_a: HP:0002061 ! Lower limb spasticity
is_a: HP:0002385 ! Paraparesis

[Term]
id: HP:0002314
name: Degeneration of the lateral corticospinal tracts
alt_id: HP:0007254
def: "Deterioration of the tissues of the lateral corticospinal tracts." [https://orcid.org/0000-0002-0736-9199]
synonym: "Degeneration of lateral corticospinal tracts" EXACT []
xref: UMLS:C1846566
is_a: HP:0007372 ! Atrophy/Degeneration involving the corticospinal tracts

[Term]
id: HP:0002315
name: Headache
alt_id: HP:0000266
alt_id: HP:0001354
def: "Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve." [https://orcid.org/0000-0002-0736-9199, PMID:15304572]
comment: Headache is one of the most common types of recurrent pain as well as one of the most frequent symptoms in neurology. In addition to occasional headaches, there are well-defined headache disorders that vary in incidence, prevalence and duration and can be divided into two broad categories. In secondary headache disorders, headaches are attributed to another condition, such as brain tumor or head injury; for the primary disorders the headache is not due to another condition.
synonym: "Headache" EXACT layperson []
synonym: "Headaches" EXACT layperson []
xref: SNOMEDCT_US:25064002
xref: UMLS:C0018681
is_a: HP:0012638 ! Abnormal nervous system physiology

[Term]
id: HP:0002317
name: Unsteady gait
synonym: "Gait instability" EXACT []
synonym: "Unsteady walk" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:22631008
xref: SNOMEDCT_US:394616008
xref: UMLS:C0231686
is_a: HP:0001288 ! Gait disturbance

[Term]
id: HP:0002318
name: Cervical myelopathy
alt_id: HP:0005788
def: "A collection of pathologic conditions that result from progressive spinal cord dysfunction secondary to cord compression in the cervical spine." []
synonym: "Cervical spondylotic myelopathy" EXACT []
synonym: "Degenerative cervical myelopathy" EXACT []
xref: SNOMEDCT_US:202664003
xref: UMLS:C0149645
is_a: HP:0002196 ! Myelopathy

[Term]
id: HP:0002321
name: Vertigo
def: "An abnormal sensation of spinning while the body is actually stationary." [https://orcid.org/0000-0002-0736-9199]
synonym: "Dizziness" RELATED layperson []
synonym: "Dizzy spell" EXACT layperson []
xref: SNOMEDCT_US:271789005
xref: SNOMEDCT_US:399090003
xref: SNOMEDCT_US:399153001
xref: SNOMEDCT_US:404640003
xref: UMLS:C0012833
xref: UMLS:C0042571
is_a: HP:0001751 ! Abnormal vestibular function

[Term]
id: HP:0002322
name: Resting tremor
def: "A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse." [https://orcid.org/0000-0002-0736-9199, PMID:22675666]
comment: Resting tremor vanishes with active movement, but typically reappears after a few seconds when the arms are held outstretched (reemergent tremor). In Parkinson disease, rest tremor frequency is usually in the low to mid-range (3-6 Hz), and the amplitude is quite variable, from less than 1 cm to over 10 cm in width.
synonym: "Parkinsonian tremor" RELATED []
synonym: "Rest tremor" EXACT []
synonym: "Resting tremor" EXACT layperson []
synonym: "Tremor at rest" EXACT layperson []
xref: SNOMEDCT_US:25082004
xref: UMLS:C0234379
is_a: HP:0001337 ! Tremor

[Term]
id: HP:0002323
name: Anencephaly
def: "Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development." [PMID:31424828, PMID:32706613]
comment: See Figure 3 of PMID:32706613.
synonym: "Embryonic anencephaly" EXACT []
synonym: "Fetal anencephaly" EXACT []
synonym: "Foetal anencephaly" EXACT uk_spelling []
xref: Fyler:4332
xref: SNOMEDCT_US:89369001
xref: UMLS:C0002902
is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum
is_a: HP:0034237 ! Open neural tube defect

[Term]
id: HP:0002324
name: Hydranencephaly
def: "A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hydrancephaly" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:30023002
xref: UMLS:C0020225
is_a: HP:0002323 ! Anencephaly

[Term]
id: HP:0002326
name: Transient ischemic attack
synonym: "Mini stroke" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "TIA" EXACT abbreviation [https://orcid.org/0000-0002-5316-1399]
synonym: "Transient ischaemic attack" EXACT uk_spelling []
synonym: "Transient ischaemic attacks" EXACT uk_spelling []
synonym: "Transient ischemic attacks" EXACT []
xref: UMLS:C0917805
is_a: HP:0001297 ! Stroke
is_a: HP:0002637 ! Cerebral ischemia

[Term]
id: HP:0002329
name: Drowsiness
def: "Abnormal feeling of sleepiness or difficulty staying awake." [PMID:34589772]
synonym: "Abnormal drowsiness" EXACT []
synonym: "Drowsiness" EXACT layperson []
synonym: "Sleepiness" EXACT []
synonym: "Sleepy" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Somnolence" EXACT []
xref: SNOMEDCT_US:271782001
xref: SNOMEDCT_US:79519003
xref: UMLS:C0013144
is_a: HP:0004372 ! Reduced consciousness
property_value: terms:contributor https://orcid.org/0000-0001-6262-8264
property_value: terms:contributor https://orcid.org/0000-0001-9446-5121
property_value: terms:contributor https://orcid.org/0000-0002-1592-0825
property_value: terms:contributor https://orcid.org/0000-0002-4672-4923
property_value: terms:contributor https://orcid.org/0000-0002-5554-6946
property_value: terms:contributor https://orcid.org/0000-0002-7367-663X

[Term]
id: HP:0002330
name: Paroxysmal drowsiness
def: "A neurological disorder marked by a sudden recurrent uncontrollable compulsion to sleep" []
synonym: "A neurological disorder marked by a sudden recurrent uncontrollable compulsion to sleep" EXACT []
xref: UMLS:C4025713
is_a: HP:0002329 ! Drowsiness
property_value: terms:contributor https://orcid.org/0000-0001-6262-8264
property_value: terms:contributor https://orcid.org/0000-0001-9446-5121
property_value: terms:contributor https://orcid.org/0000-0002-1592-0825
property_value: terms:contributor https://orcid.org/0000-0002-4672-4923
property_value: terms:contributor https://orcid.org/0000-0002-5554-6946
property_value: terms:contributor https://orcid.org/0000-0002-7367-663X

[Term]
id: HP:0002331
name: Recurrent paroxysmal headache
def: "Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1854337
is_a: HP:0002315 ! Headache

[Term]
id: HP:0002332
name: Lack of peer relationships
def: "The state of not having relationships with peers outside of school or organized activity appropriate to developmental level. This may be caused by behavioral or physical barriers." []
xref: UMLS:C1845337
is_a: HP:5200016 ! Abnormal peer relationships
property_value: terms:contributor https://orcid.org/0000-0001-9112-5148
property_value: terms:contributor https://orcid.org/0000-0002-4142-7153
property_value: terms:contributor https://orcid.org/0000-0002-6670-9157
property_value: terms:contributor https://orcid.org/0000-0002-9593-5508

[Term]
id: HP:0002333
name: Motor deterioration
def: "Loss of previously present motor (i.e., movement) abilities." [https://orcid.org/0000-0002-0736-9199]
synonym: "Progressive degeneration of movement" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1866284
is_a: HP:0001268 ! Mental deterioration

[Term]
id: HP:0002334
name: Abnormal cerebellar vermis morphology
def: "An anomaly of the vermis of cerebellum." [https://orcid.org/0000-0002-0736-9199]
comment: The cerebellar vermis is the unpaired, median portion of the cerebellum that connects the two hemispheres.
synonym: "Abnormality of the cerebellar vermis" EXACT []
xref: UMLS:C4025712
is_a: HP:0001317 ! Abnormal cerebellum morphology

[Term]
id: HP:0002335
name: Agenesis of cerebellar vermis
alt_id: HP:0007125
def: "Congenital absence of the vermis of cerebellum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cerebellar vermis aplasia" EXACT []
synonym: "Vermian agenesis" EXACT []
xref: SNOMEDCT_US:253175003
xref: SNOMEDCT_US:716997004
xref: UMLS:C0431399
is_a: HP:0006817 ! Aplasia/Hypoplasia of the cerebellar vermis

[Term]
id: HP:0002339
name: Abnormal caudate nucleus morphology
def: "Any structural abnormality of the caudate nucleus." [https://orcid.org/0000-0002-0736-9199]
comment: The caudate nucleus is an elongated crescent-shaped mass lying parallel and adjacent to the lateral ventricle throughout its extent.
synonym: "Abnormality of the caudate nucleus" EXACT []
xref: UMLS:C4025711
is_a: HP:0010994 ! Abnormal corpus striatum morphology

[Term]
id: HP:0002340
name: Caudate atrophy
synonym: "Caudate degeneration" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1858116
is_a: HP:0007374 ! Atrophy/Degeneration involving the caudate nucleus

[Term]
id: HP:0002341
name: Cervical cord compression
alt_id: HP:0007145
def: "Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cervical cord compression myelopathy" EXACT []
xref: UMLS:C0852866
is_a: HP:0002176 ! Spinal cord compression

[Term]
id: HP:0002342
name: Intellectual disability, moderate
alt_id: HP:0007303
def: "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49." [https://orcid.org/0000-0002-0736-9199]
synonym: "IQ between 34 and 49" EXACT layperson [https://www.merckmanuals.com/home/children-s-health-issues/learning-and-developmental-disorders/intellectual-disability]
synonym: "Mental retardation, moderate" EXACT []
synonym: "Moderate mental deficiency" EXACT []
synonym: "Moderate mental retardation" EXACT []
xref: SNOMEDCT_US:61152003
xref: UMLS:C0026351
is_a: HP:0001249 ! Intellectual disability

[Term]
id: HP:0002343
name: Normal pressure hydrocephalus
def: "A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture." [eMedicine:1135286, https://orcid.org/0000-0002-0736-9199]
comment: Normal pressure hydrocephalus rarely occurs in patients younger than 60 years.
synonym: "Normal-pressure hydrocephalus" EXACT []
xref: SNOMEDCT_US:30753002
xref: UMLS:C0020258
is_a: HP:0000238 ! Hydrocephalus

[Term]
id: HP:0002344
name: Progressive neurologic deterioration
synonym: "Neurologic deterioration" EXACT []
synonym: "Neurologic deterioration, progressive" EXACT []
synonym: "Progressive mental deterioration" EXACT []
synonym: "Progressive neurodegeneration" EXACT []
synonym: "Worsening neurological symptoms" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1854838
is_a: HP:0001268 ! Mental deterioration

[Term]
id: HP:0002345
name: Action tremor
def: "A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement." [https://orcid.org/0000-0002-0736-9199]
comment: Action tremor occurs with voluntary contraction of muscle. Subforms of action tremor include postural, isometric, and kinetic tremors
synonym: "Ataxic tremor" RELATED []
xref: SNOMEDCT_US:30721006
xref: UMLS:C0234376
xref: UMLS:C4020853
is_a: HP:0001337 ! Tremor

[Term]
id: HP:0002346
name: Head tremor
def: "An unintentional, oscillating to-and-fro muscle movement affecting head movement." [https://orcid.org/0000-0002-0736-9199]
synonym: "Head tremor" EXACT layperson []
xref: UMLS:C0239882
is_a: HP:0030188 ! Tremor by anatomical site

[Term]
id: HP:0002349
name: Focal aware seizure
def: "A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-1735-8178, PMID:28276060, PMID:28276062, PMID:28276064]
comment: In the previous (1981) ILAE classification of seizure types, the term 'simple partial seizure' was used to denote a focal aware seizure. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. If awareness is preserved throughout, then the seizure is a focal aware seizure. Previously the terms simple partial was used to describe focal aware seizures.
synonym: "Focal aware seizures" EXACT plural_form []
synonym: "Focal seizure with retained awareness" EXACT []
synonym: "Focal seizure without impairment of awareness" EXACT []
synonym: "Focal seizure without impairment of consciousness or awareness" EXACT []
synonym: "Focal seizures without impairment of consciousness or awareness" EXACT plural_form []
synonym: "Partial seizure with retained awareness" EXACT []
synonym: "Partial seizure without impairment of awareness" EXACT []
synonym: "Simple partial seizure" EXACT []
synonym: "Simple partial seizures" EXACT plural_form []
xref: SNOMEDCT_US:117891000119100
xref: SNOMEDCT_US:79348005
xref: UMLS:C0234974
is_a: HP:0007359 ! Focal-onset seizure

[Term]
id: HP:0002350
name: Cerebellar cyst
synonym: "Cerebellar cysts" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1847762
is_a: HP:0002438 ! Cerebellar malformation
is_a: HP:0010576 ! Intracranial cystic lesion

[Term]
id: HP:0002352
name: Leukoencephalopathy
alt_id: HP:0006838
alt_id: HP:0007073
def: "This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells." [https://orcid.org/0000-0002-0736-9199]
comment: This feature can be demonstrated by magnetic resonance imaging or computer tomography.
xref: SNOMEDCT_US:22811006
xref: UMLS:C0270612
is_a: HP:0002060 ! Abnormal cerebral morphology

[Term]
id: HP:0002353
name: EEG abnormality
alt_id: HP:0001346
alt_id: HP:0002429
alt_id: HP:0006841
def: "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal EEG" EXACT abbreviation []
synonym: "Abnormal electroencephalogram" EXACT []
synonym: "EEG abnormalities" EXACT abbreviation []
synonym: "Electroencephalogram abnormal" EXACT []
synonym: "Electroencephalogram abnormalities" EXACT []
xref: SNOMEDCT_US:274521009
xref: UMLS:C0151611
is_a: HP:0030178 ! Abnormality of central nervous system electrophysiology

[Term]
id: HP:0002354
name: Memory impairment
alt_id: HP:0000747
alt_id: HP:0002081
def: "An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness." [https://orcid.org/0000-0002-0736-9199]
comment: Affected individuals tend to lose their train of thought in conversation, begin tasks but forget their intention while doing it, repeat things often during conversations, and have difficulties in tasks of daily living.
synonym: "Forgetfulness" EXACT layperson []
synonym: "Memory impairment" EXACT layperson []
synonym: "Memory loss" EXACT layperson []
synonym: "Memory problems" EXACT layperson []
synonym: "Poor memory" EXACT layperson []
xref: SNOMEDCT_US:386807006
xref: SNOMEDCT_US:55533009
xref: UMLS:C0233794
xref: UMLS:C0542476
xref: UMLS:C0751295
is_a: HP:0100543 ! Cognitive impairment

[Term]
id: HP:0002355
name: obsolete Difficulty walking
is_obsolete: true
replaced_by: HP:0001288

[Term]
id: HP:0002356
name: Writer's cramp
def: "A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument." [https://orcid.org/0000-0002-0736-9199]
synonym: "Writer's cramp" EXACT layperson []
xref: SNOMEDCT_US:52008007
xref: UMLS:C0154676
is_a: HP:0004373 ! Focal dystonia

[Term]
id: HP:0002357
name: obsolete Dysphasia
is_obsolete: true
replaced_by: HP:0002381

[Term]
id: HP:0002359
name: Frequent falls
synonym: "Frequent falls" EXACT layperson []
xref: UMLS:C0850703
is_a: HP:0004302 ! Functional motor deficit

[Term]
id: HP:0002360
name: Sleep abnormality
def: "An abnormal pattern in the quality, quantity, or characteristics of sleep." [PMID:32809555]
synonym: "Difficulty sleeping" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Sleep disturbance" EXACT []
synonym: "Sleep disturbances" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Sleep dysfunction" EXACT []
synonym: "Trouble sleeping" EXACT layperson []
xref: SNOMEDCT_US:53888004
xref: UMLS:C0037317
is_a: HP:0011446 ! Abnormality of mental function
property_value: terms:contributor https://orcid.org/0000-0001-6262-8264
property_value: terms:contributor https://orcid.org/0000-0001-9446-5121
property_value: terms:contributor https://orcid.org/0000-0002-1592-0825
property_value: terms:contributor https://orcid.org/0000-0002-4672-4923
property_value: terms:contributor https://orcid.org/0000-0002-5554-6946
property_value: terms:contributor https://orcid.org/0000-0002-7367-663X

[Term]
id: HP:0002361
name: Psychomotor deterioration
def: "Loss of previously present mental and motor abilities." [https://orcid.org/0000-0002-0736-9199]
synonym: "Psychomotor degeneration" EXACT []
xref: UMLS:C1836842
is_a: HP:0001268 ! Mental deterioration

[Term]
id: HP:0002362
name: Shuffling gait
def: "A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground." []
synonym: "Shuffled walk" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:43005009
xref: UMLS:C0231688
is_a: HP:0001288 ! Gait disturbance

[Term]
id: HP:0002363
name: Abnormal brainstem morphology
def: "An anomaly of the brainstem." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal shape of brainstem" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of brainstem morphology" EXACT []
synonym: "Abnormality of the brainstem" EXACT []
xref: UMLS:C1850601
is_a: HP:0012443 ! Abnormal brain morphology

[Term]
id: HP:0002365
name: Hypoplasia of the brainstem
def: "Underdevelopment of the brainstem." [https://orcid.org/0000-0002-0736-9199]
comment: This finding can be demonstrated by magnetic resonance imaging.
synonym: "Brainstem hypoplasia" EXACT []
synonym: "Hypoplastic brain stem" EXACT []
synonym: "Hypoplastic brainstem" EXACT []
synonym: "Small brainstem" EXACT layperson []
synonym: "Underdeveloped brainstem" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1842688
is_a: HP:0007362 ! Aplasia/Hypoplasia of the brainstem

[Term]
id: HP:0002366
name: Abnormal lower motor neuron morphology
alt_id: HP:0007276
def: "Any structural anomaly of the lower motor neuron." [https://orcid.org/0000-0002-0736-9199]
comment: previous def: 'has part' some (quality and ('inheres in' some 'Lower motor neuron (adult human)') and ('has modifier' some abnormal))
synonym: "Lower motor neuron disease" EXACT []
synonym: "Lower motor neuron manifestations" EXACT []
synonym: "Lower motor neuron signs" EXACT []
xref: UMLS:C1865412
is_a: HP:0000759 ! Abnormal peripheral nervous system morphology
is_a: HP:0002450 ! Abnormal motor neuron morphology

[Term]
id: HP:0002367
name: Visual hallucination
def: "Visual perception in the absence of a visual stimulus." []
synonym: "Visual hallucinations" EXACT layperson []
xref: SNOMEDCT_US:64269007
xref: UMLS:C0233763
is_a: HP:0000738 ! Hallucinations
property_value: terms:contributor https://orcid.org/0000-0001-7062-8192
property_value: terms:contributor https://orcid.org/0000-0001-7941-2961
property_value: terms:contributor https://orcid.org/0000-0001-9221-9226
property_value: terms:contributor https://orcid.org/0000-0002-0183-1637
property_value: terms:contributor https://orcid.org/0000-0003-1785-7126
property_value: terms:contributor https://orcid.org/0000-0003-2291-6952
property_value: terms:contributor https://orcid.org/0000-0003-4958-6025

[Term]
id: HP:0002370
name: Poor coordination
synonym: "Poor coordination" EXACT layperson []
xref: UMLS:C0563243
is_a: HP:0002311 ! Incoordination

[Term]
id: HP:0002371
name: Loss of speech
synonym: "Loss of speech" EXACT layperson []
xref: UMLS:C0542223
is_a: HP:0002167 ! Abnormal speech pattern

[Term]
id: HP:0002372
name: Normal interictal EEG
def: "Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis." []
xref: UMLS:C1843146
is_a: HP:0025373 ! Interictal EEG abnormality

[Term]
id: HP:0002373
name: Febrile seizure (within the age range of 3 months to 6 years)
alt_id: HP:0002175
alt_id: HP:0007102
def: "A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years." [https://orcid.org/0000-0002-0736-9199, PMID:10353950, PMID:19125841, PMID:30078767, PMID:6779259]
comment: Typically febrile seizures are limited to the age range of 3 months to 6 years and not accompanied or preceded by afebrile seizures; in this case febrile seizures are not considered indicative of epilepsy. When febrile seizures occur prior to the age of 3 months, or continue beyond the 6th birthday, or when a person has both febrile seizures and afebrile generalized tonic-clonic seizures then a diagnosis of Febrile Seizures Plus (an epilepsy syndrome) may be made.
synonym: "Febrile convulsion" EXACT []
synonym: "Febrile seizures" EXACT plural_form []
synonym: "Fever induced seizures" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Seizures, febrile, in early childhood" EXACT []
synonym: "Seizures, generalized, associated with fever" EXACT []
xref: SNOMEDCT_US:41497008
xref: UMLS:C0009952
is_a: HP:0032894 ! Seizure precipitated by febrile infection

[Term]
id: HP:0002374
name: Diminished movement
synonym: "Diminished movement" EXACT layperson []
xref: UMLS:C4025710
is_a: HP:0100022 ! Abnormality of movement

[Term]
id: HP:0002375
name: Hypokinesia
alt_id: HP:0002603
alt_id: HP:0006795
def: "Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased muscle movement" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Decreased spontaneous movement" EXACT layperson []
synonym: "Decreased spontaneous movements" EXACT layperson []
xref: SNOMEDCT_US:255385008
xref: SNOMEDCT_US:43994002
xref: UMLS:C0086439
is_a: HP:0002374 ! Diminished movement

[Term]
id: HP:0002376
name: Developmental regression
alt_id: HP:0002471
alt_id: HP:0002489
alt_id: HP:0006797
alt_id: HP:0006828
alt_id: HP:0006854
alt_id: HP:0007037
alt_id: HP:0007242
alt_id: HP:0007247
def: "Loss of developmental skills, as manifested by loss of developmental milestones." [https://orcid.org/0000-0002-6410-0882]
comment: Developmental regression is said to occur when a child that has reached a certain psychomotor developmental stage starts to regress and to lose the acquired milestones.
synonym: "Loss of acquired milestones" EXACT []
synonym: "Loss of developmental milestones" EXACT layperson []
synonym: "Loss of milestones" EXACT []
synonym: "Mental deterioration in childhood" EXACT layperson []
synonym: "Neurodevelopmental regression" EXACT []
synonym: "Psychomotor regression" EXACT []
synonym: "Psychomotor regression beginning in infancy" EXACT []
synonym: "Psychomotor regression in infants" EXACT []
synonym: "Psychomotor regression, progressive" EXACT []
xref: SNOMEDCT_US:609225004
xref: UMLS:C1836550
xref: UMLS:C1836830
xref: UMLS:C1850493
xref: UMLS:C1855009
xref: UMLS:C1855019
xref: UMLS:C1855996
xref: UMLS:C1857121
xref: UMLS:C1859678
is_a: HP:0012759 ! Neurodevelopmental abnormality

[Term]
id: HP:0002377
name: obsolete Paraganglioma-related cranial nerve palsy
is_obsolete: true
replaced_by: HP:0006824

[Term]
id: HP:0002378
name: Hand tremor
def: "An unintentional, oscillating to-and-fro muscle movement affecting the hand." []
synonym: "Hand tremor" EXACT layperson []
synonym: "Tremor of hand" EXACT layperson []
synonym: "Tremor of hands" EXACT layperson []
synonym: "tremors in hands" EXACT layperson []
xref: UMLS:C0239842
is_a: HP:0030188 ! Tremor by anatomical site

[Term]
id: HP:0002380
name: Fasciculations
alt_id: HP:0002468
alt_id: HP:0007092
def: "Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units." [https://orcid.org/0000-0002-0736-9199]
comment: This finding can be visible clinically and can be demonstrated by electromyography (EMG).
synonym: "Fasciculation" EXACT []
synonym: "Muscle fasciculation" EXACT []
synonym: "Muscle twitch" EXACT layperson [https://orcid.org/0000-0001-6908-9849, https://www.nlm.nih.gov/medlineplus/ency/article/003296.htm]
xref: SNOMEDCT_US:82470000
xref: UMLS:C0015644
is_a: HP:0004305 ! Involuntary movements

[Term]
id: HP:0002381
name: Aphasia
alt_id: HP:0002357
def: "An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write." [PMID:27384070]
comment: Aphasia is caused by brain injury. The most common cause is stroke, but aphasia can also be caused by other factors such as head trauma, brain tumors, or infections. The terms aphasia and dysphasia are usually considered to be synonymous, but the word dysphasia has been used inconsistently and it is recommended to no longer use the term dysphasia.
synonym: "Difficulty finding words" EXACT layperson []
synonym: "Losing words" EXACT layperson []
synonym: "Loss of words" EXACT layperson []
xref: SNOMEDCT_US:87486003
xref: UMLS:C0003537
is_a: HP:0002167 ! Abnormal speech pattern

[Term]
id: HP:0002383
name: Infectious encephalitis
def: "A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity." [PMID:24365426]
synonym: "Brain inflammation" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:45170000
xref: UMLS:C0014038
is_a: HP:0011450 ! Unusual CNS infection

[Term]
id: HP:0002384
name: Focal impaired awareness seizure
alt_id: HP:0002278
def: "Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure." [https://orcid.org/0000-0002-0736-9199, PMID:28276062, PMID:28276064, PMID:9738682]
comment: Awareness during a seizure is defined as the person being fully aware of themselves and their environment throughout the seizure, even if immobile. If awareness is impaired at any point during the seizure, the seizure is a focal impaired awareness seizure. The degree of loss of awareness may vary. The terms 'complex partial seizure' and 'focal dyscognitive seizure' were previously used to denote a focal impaired awareness seizure.
synonym: "Complex focal seizures" EXACT []
synonym: "Complex partial seizure" EXACT []
synonym: "Complex partial seizures" EXACT []
synonym: "Dyscognitive seizures" EXACT []
synonym: "Focal dyscognitive seizure" EXACT []
synonym: "Focal impaired awareness seizures" EXACT plural_form []
synonym: "Focal seizure with impairment of awareness" EXACT []
synonym: "Focal seizure with loss of awareness" EXACT []
synonym: "Focal seizures with impairment of consciousness or awareness" EXACT plural_form []
synonym: "Localised dyscognitive seizure" EXACT []
synonym: "Localised seizure with impaired awareness" EXACT []
synonym: "Localised seizure with loss of awareness" EXACT []
synonym: "Localized dyscognitive seizure" EXACT []
synonym: "Localized seizure with impaired awareness" EXACT []
synonym: "Localized seizure with loss of awareness" EXACT []
synonym: "Partial dyscognitive seizure" EXACT []
synonym: "Partial seizure with impairment of awareness" EXACT []
synonym: "Partial seizure with loss of awareness" EXACT []
xref: SNOMEDCT_US:4103001
xref: UMLS:C0149958
xref: UMLS:C0270834
is_a: HP:0007359 ! Focal-onset seizure
is_a: HP:0011146 ! Dialeptic seizure

[Term]
id: HP:0002385
name: Paraparesis
def: "Weakness or partial paralysis in the lower limbs." [https://orcid.org/0000-0002-0736-9199]
comment: Diseases of the spinal cord that affect motor function of the legs produce a gait characterized by both leg weakness and spasticity.
synonym: "Partial paralysis of legs" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:1845001
xref: UMLS:C0221166
is_a: HP:0010551 ! Paraplegia/paraparesis

[Term]
id: HP:0002389
name: Cavum septum pellucidum
alt_id: HP:0006884
alt_id: HP:0007091
alt_id: HP:0007336
def: "If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space." [https://orcid.org/0000-0002-0736-9199]
synonym: "Large cavum septi pellucidi" EXACT []
synonym: "Persistent cavum septum pellucidum" EXACT []
synonym: "Widened cavum septum pellucidum" EXACT []
xref: UMLS:C1840380
is_a: HP:0007375 ! Abnormal septum pellucidum morphology

[Term]
id: HP:0002390
name: Spinal arteriovenous malformation
xref: SNOMEDCT_US:261482004
xref: UMLS:C0348023
is_a: HP:0002143 ! Abnormal spinal cord morphology
is_a: HP:0100026 ! Arteriovenous malformation

[Term]
id: HP:0002392
name: EEG with polyspike wave complexes
def: "The presence of complexes of repetitive spikes and waves in EEG." [HPO_CONTRIBUTOR:jalbers]
synonym: "EEG: spike and multispike waves, 3-4 hz" EXACT []
xref: UMLS:C4021757
is_a: HP:0010850 ! EEG with spike-wave complexes

[Term]
id: HP:0002395
name: Lower limb hyperreflexia
alt_id: HP:0007245
alt_id: HP:0007288
def: "Increased intensity of the a reflex in the leg." []
synonym: "Brisk lower extremity reflexes" EXACT []
synonym: "Hyperreflexia in lower limbs" EXACT []
synonym: "Hyperreflexia in the lower limbs" EXACT []
synonym: "Increased deep tendon reflexes in the lower limbs" EXACT []
synonym: "Leg hyperreflexia" EXACT []
synonym: "Overactive lower leg reflex" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1836696
is_a: HP:0001347 ! Hyperreflexia

[Term]
id: HP:0002396
name: Cogwheel rigidity
def: "A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched)." [https://orcid.org/0000-0002-0736-9199]
comment: Cogwheel rigidity is a typical manifestation of Parkinson disease.
xref: SNOMEDCT_US:55630000
xref: UMLS:C0151564
is_a: HP:0002063 ! Rigidity

[Term]
id: HP:0002398
name: Degeneration of anterior horn cells
alt_id: HP:0007136
alt_id: HP:0008312
synonym: "Anterior horn cell loss" EXACT []
synonym: "Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord" EXACT []
synonym: "Degeneration of spinal cord anterior horn cells" EXACT []
synonym: "Loss of spinal cord anterior horn cells" EXACT []
synonym: "Progressive loss of anterior horn cells" EXACT []
synonym: "Spinal cord anterior horn cell degeneration" EXACT []
xref: UMLS:C1843505
is_a: HP:0006802 ! Abnormal anterior horn cell morphology
is_a: HP:0007373 ! Motor neuron atrophy

[Term]
id: HP:0002401
name: Stroke-like episode
def: "No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours." [PMID:22715346, PMID:23907585]
comment: Stroke-like episodes are phenotypic features predominantly of mitochondrial disorders, most frequently mitochondrial encephalopathy, lactacidosis, SLE (MELAS)-syndrome, and mimic the clinical manifestations of ischemic stroke to some extent.
synonym: "Stroke-like episodes" EXACT plural_form []
synonym: "Strokelike episodes" EXACT plural_form []
xref: UMLS:C1857287
is_a: HP:0001297 ! Stroke

[Term]
id: HP:0002403
name: Positive Romberg sign
def: "The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:298310004
xref: UMLS:C0240914
is_a: HP:0010831 ! Impaired proprioception

[Term]
id: HP:0002404
name: Thickened superior cerebellar peduncle
def: "Increased width of the superior cerebellar peduncle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Thick cerebellar peduncles" EXACT []
xref: UMLS:C4021756
is_a: HP:0011932 ! Abnormal superior cerebellar peduncle morphology

[Term]
id: HP:0002406
name: Limb dysmetria
def: "A type of dysmetria involving the limbs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Uncoordinated limb movement" NARROW layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1854489
xref: UMLS:C4280577
is_a: HP:0001310 ! Dysmetria

[Term]
id: HP:0002408
name: Cerebral arteriovenous malformation
def: "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain." []
synonym: "Cerebral AV malformation" EXACT abbreviation []
xref: Fyler:2201
xref: SNOMEDCT_US:234142008
xref: UMLS:C0917804
is_a: HP:0100026 ! Arteriovenous malformation
is_a: HP:0100659 ! Abnormal cerebral vascular morphology

[Term]
id: HP:0002410
name: Aqueductal stenosis
def: "Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Aqueduct of Sylvius stenosis" EXACT []
synonym: "Aqueduct stenosis" EXACT []
synonym: "Narrowing of aqueduct of Sylvius" EXACT [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C2936786
is_a: HP:0002118 ! Abnormal cerebral ventricle morphology

[Term]
id: HP:0002411
name: Myokymia
def: "Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle." [PMID:21501741]
comment: Myokymia is characterized electrophysiologically by rhythmic or semi-rhythmic bursts of a single motor unit discharging several times a second at a rate of 3-8 Hz. These myokymic discharges are nonsynchronous in different muscles or even in the same muscle, with intervals of 100-200 milliseconds separating individual bursts. The spontaneous discharges are not initiated by voluntary movement, although they may increase with such activity.
xref: SNOMEDCT_US:27678003
xref: UMLS:C0684219
is_a: HP:0100022 ! Abnormality of movement

[Term]
id: HP:0002414
name: Spina bifida
def: "Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele." [https://orcid.org/0000-0002-0736-9199]
synonym: "Split spine" BROAD layperson [http://www.mayoclinic.org/diseases-conditions/spina-bifida/basics/definition/con-20035356?utm_source=google&utm_medium=abstract&utm_content=spina-bifida&utm_campaign=knowledge-panel, https://orcid.org/0000-0001-5208-3432]
xref: Fyler:4157
xref: SNOMEDCT_US:67531005
xref: UMLS:C0080178
is_a: HP:0010301 ! Spinal dysraphism

[Term]
id: HP:0002415
name: Leukodystrophy
alt_id: HP:0006926
alt_id: HP:0007079
def: "Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies." [https://orcid.org/0000-0002-0736-9199, PMID:30620693]
comment: The deterioration coincides with clinical regression of skills, and in the most severe cases neurological devastation. Leukodystrophy should be distinguished from leukoencephalopathy (defect causing secondary myelin damage). Note that the term leukodystrophy is most often used to refer to a disease rather than a phenotypic feature, and a more precise description is to be preferred if possible.
synonym: "Degeneration of white matter of brain" EXACT [https://en.wikipedia.org/wiki/leukodystrophy, https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:192781003
xref: UMLS:C0023520
is_a: HP:0011400 ! Abnormal CNS myelination

[Term]
id: HP:0002416
name: Subependymal cysts
def: "Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life." [https://orcid.org/0000-0002-0736-9199, PMID:12423490]
comment: In the vast majority of cases, a simple persistence of the germinal matrix is proposed to explain their presence in asymptomatic preterm neonates. Viral infections, mainly with CMV and rubella, are commonly found when the pseudocysts are associated with other abnormalities of the central nervous system. The pseudocysts are then often multilocular.
synonym: "Subependymal germinolytic cyst" EXACT []
synonym: "Subependymal pseudocyst" EXACT []
xref: UMLS:C1833431
is_a: HP:0002118 ! Abnormal cerebral ventricle morphology
is_a: HP:0010576 ! Intracranial cystic lesion

[Term]
id: HP:0002418
name: Abnormal midbrain morphology
def: "An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal shape of midbrain" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of midbrain morphology" EXACT []
synonym: "Abnormality of the mesencephalon" EXACT []
synonym: "Abnormality of the midbrain" EXACT layperson []
xref: UMLS:C4021755
is_a: HP:0012443 ! Abnormal brain morphology

[Term]
id: HP:0002419
name: Molar tooth sign on MRI
def: "An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth." [https://orcid.org/0000-0002-0736-9199, PMID:14657304]
comment: Molar tooth appearance results from a lack of normal decussation of superior cerebellar peduncular fiber tracts which in turn leads to enlargement of the peduncles, which also follow a more horizontal course. The absence of crossing fibers also leads to a reduction in the anteroposterior diameter of the midbrain and deepening of the interpeduncular cistern.
synonym: "Molar tooth sign" EXACT []
synonym: "Molar tooth sign on brain imaging" EXACT []
synonym: "Molar tooth sign on imaging" EXACT []
xref: UMLS:C1865060
is_a: HP:0002418 ! Abnormal midbrain morphology

[Term]
id: HP:0002421
name: Poor head control
def: "Difficulty to maintain correct position of the head while standing or sitting. Infant head lag is observed when the head seems to flop around or lags posteriorly behind the trunk. Several articles have maintained that head lag should be absent by age 3 to 4 months." [https://orcid.org/0000-0002-0736-9199, PMID:33620859]
synonym: "Delay in head control" EXACT []
synonym: "Delay in head righting" EXACT []
synonym: "Infant head lag" EXACT []
synonym: "Poor head control" EXACT layperson []
xref: UMLS:C1836038
is_a: HP:0001324 ! Muscle weakness

[Term]
id: HP:0002423
name: Long-tract sign
def: "Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions. These include spasticity, hyperreflexia, and abnormal reflexes such as Babinski or Hoffman's sign. If possible, it is preferable to use the precise HPO terms for these abnormalities." []
synonym: "Long tract signs" EXACT plural_form []
synonym: "Long-tract signs" EXACT plural_form []
xref: UMLS:C1865903
is_a: HP:0034482 ! Abnormal spinal cord physiology

[Term]
id: HP:0002425
name: Anarthria
def: "A defect in the motor ability that enables speech." [https://orcid.org/0000-0002-0736-9199]
synonym: "Loss of articulate speech" EXACT layperson [http://dictionary.reference.com/browse/anarthria, https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:48257004
xref: UMLS:C0234517
is_a: HP:0002167 ! Abnormal speech pattern

[Term]
id: HP:0002427
name: Expressive aphasia
def: "Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broca's aphasia" EXACT [https://en.wikipedia.org/wiki/aphasia, https://orcid.org/0000-0001-5208-3432]
synonym: "Loss of expressive speech" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Motor aphasia" EXACT [https://en.wikipedia.org/wiki/aphasia, https://orcid.org/0000-0001-5208-3432]
synonym: "Non-fluent aphasia" EXACT layperson []
xref: SNOMEDCT_US:229654003
xref: SNOMEDCT_US:229665008
xref: SNOMEDCT_US:328681008
xref: UMLS:C0003550
xref: UMLS:C0917814
is_a: HP:0002381 ! Aphasia

[Term]
id: HP:0002435
name: Meningocele
def: "Protrusion of the meninges through a defect of the skull or vertebral column." [https://orcid.org/0009-0006-4530-3154, PMID:32965845]
xref: SNOMEDCT_US:171131006
xref: UMLS:C0025299
is_a: HP:0010651 ! Abnormal meningeal morphology
is_a: HP:0034238 ! Closed neural tube defect

[Term]
id: HP:0002436
name: Occipital meningocele
def: "A herniation of meninges through a congenital bone defect in the skull in the occipital region." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:445468002
xref: UMLS:C1848652
is_a: HP:0002435 ! Meningocele

[Term]
id: HP:0002438
name: Cerebellar malformation
xref: UMLS:C4025708
is_a: HP:0001317 ! Abnormal cerebellum morphology

[Term]
id: HP:0002439
name: Frontolimbic dementia
xref: UMLS:C1836151
is_a: HP:0000726 ! Dementia

[Term]
id: HP:0002442
name: Dyscalculia
def: "A specific learning disability involving mathematics and arithmetic." [https://orcid.org/0000-0002-0736-9199]
synonym: "Acalculia" EXACT []
synonym: "Difficulty making arithmetical calculations" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:47916000
xref: UMLS:C1411876
xref: UMLS:C4280576
is_a: HP:0001328 ! Specific learning disability

[Term]
id: HP:0002444
name: Hypothalamic hamartoma
def: "The presence of a hamartoma of the hypothalamus." [https://orcid.org/0000-0002-0736-9199]
comment: Hypothalamic hamartoma is a malformation, not a tumor. Hypothalamic hamartomas grow at the rate of, or slower than, the surrounding brain tissue. A hamartoma of the hypothalamus appears as a non-enhancing mass in the floor of the third ventricle posterior to the optic chiasm that is isointense to gray matter on T1 and T2 pulse sequences of an MRI, but may have distinct intensity on FLAIR (neither cranial CT examination nor cranial ultrasound examination is adequate for diagnosis of hypothalamic hamartom). Individuals with hypothalamic hamartomas may have neurologic symptoms, although most are asymptomatic. Removal of the hypothalamic hamartoma is not indicated and often results in iatrogenic pituitary insufficiency.
xref: SNOMEDCT_US:237714006
xref: UMLS:C0342418
is_a: HP:0009731 ! Cerebral hamartoma
is_a: HP:0012286 ! Abnormal hypothalamus morphology

[Term]
id: HP:0002445
name: Tetraplegia
alt_id: HP:0010552
def: "Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord." [https://orcid.org/0000-0002-0736-9199]
synonym: "Paralysis of all four limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Quadriplegia" EXACT []
xref: SNOMEDCT_US:11538006
xref: UMLS:C0034372
is_a: HP:0030182 ! Tetraplegia/tetraparesis

[Term]
id: HP:0002446
name: Astrocytosis
def: "Proliferation of astrocytes in the area of a lesion of the central nervous system." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increase in astrocyte number" BROAD [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:81415000
xref: UMLS:C3887640
is_a: HP:0100707 ! Abnormal astrocyte morphology

[Term]
id: HP:0002448
name: Progressive encephalopathy
synonym: "Progressive brain disease" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1838578
xref: UMLS:C4280575
is_a: HP:0001298 ! Encephalopathy

[Term]
id: HP:0002450
name: Abnormal motor neuron morphology
def: "Any structural anomaly that affects the motor neuron." []
synonym: "Abnormal shape of motor neuron" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025707
is_a: HP:0012757 ! Abnormal neuron morphology

[Term]
id: HP:0002451
name: Limb dystonia
def: "A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C0751093
is_a: HP:0001332 ! Dystonia

[Term]
id: HP:0002453
name: Abnormal globus pallidus morphology
alt_id: HP:0007040
def: "An abnormality of the globus pallidus." [https://orcid.org/0000-0002-0736-9199]
comment: The globus pallidus is a cerebral nucleus located medially to the putamen and laterally to the internal capsule.
xref: UMLS:C4025706
is_a: HP:0002134 ! Abnormal basal ganglia morphology

[Term]
id: HP:0002454
name: Eye of the tiger anomaly of globus pallidus
alt_id: HP:0012677
def: "The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity of the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. The sign is thought to represent iron accumulation in the globus pallidus." [https://orcid.org/0000-0002-0736-9199, PMID:11110959, PMID:19881070, PMID:29371252]
comment: This sign is observed upon magnetic resonance tomography (MRI). It can be seen in several diseases including Hallervorden-Spatz syndrome, where the pathophysiology has been hypothesized to be related to iron deposition in the globus pallidus (associated with low signal intensity on T2-weighted images) accompanied by other pathological processes such as gliosis and water accumulation that are responsible for the high signal intensity at the central globus pallidus.
xref: UMLS:C4025705
is_a: HP:0002453 ! Abnormal globus pallidus morphology
is_a: HP:0012675 ! Iron accumulation in brain

[Term]
id: HP:0002457
name: Abnormal head movements
synonym: "Abnormal head movements" EXACT layperson []
xref: SNOMEDCT_US:271799000
xref: UMLS:C0476217
is_a: HP:0100022 ! Abnormality of movement

[Term]
id: HP:0002459
name: obsolete Dysautonomia
is_obsolete: true
replaced_by: HP:0012332

[Term]
id: HP:0002460
name: Distal muscle weakness
alt_id: HP:0002598
alt_id: HP:0002935
alt_id: HP:0003497
alt_id: HP:0006940
alt_id: HP:0009008
def: "Reduced strength of the musculature of the distal extremities." [https://orcid.org/0000-0002-0736-9199]
comment: Typically, at onset the lower limbs are more affected than upper limbs. The distribution of weakness is often roughly symmetric.
synonym: "Distal limb muscle weakness" EXACT []
synonym: "Distal limb muscle weakness due to peripheral neuropathy" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Distal limb weakness" EXACT []
synonym: "Distal muscular weakness" EXACT []
synonym: "Distal paresis" EXACT []
synonym: "Muscle weakness, distal" EXACT []
synonym: "Muscle weakness, distal limbs, due to neuronopathy" EXACT []
synonym: "Weakness of distal muscles" EXACT []
synonym: "Weakness of outermost muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:249942005
xref: UMLS:C0427065
xref: UMLS:C1864696
is_a: HP:0001324 ! Muscle weakness

[Term]
id: HP:0002461
name: Cerebellar dentate nucleus calcification
def: "Pathological deposition of calcium salts in the dentate nucleus of the cerebellum." []
xref: UMLS:C1859273
is_a: HP:0007352 ! Cerebellar calcifications
is_a: HP:0100321 ! Abnormal dentate nucleus morphology

[Term]
id: HP:0002463
name: Language impairment
def: "Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations." []
synonym: "Language disorder" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389]
xref: SNOMEDCT_US:62305002
xref: UMLS:C0023015
is_a: HP:0034434 ! Abnormal communication
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-2592-4715
property_value: terms:contributor https://orcid.org/0000-0002-9593-5508
property_value: terms:contributor https://orcid.org/0000-0003-3777-1389

[Term]
id: HP:0002464
name: Spastic dysarthria
def: "A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality." [https://orcid.org/0000-0002-0736-9199]
synonym: "Rigid dysarthria" EXACT [http://medical-dictionary.thefreedictionary.com/spastic+dysarthria, https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:229684006
xref: UMLS:C0454596
is_a: HP:0001257 ! Spasticity
is_a: HP:0001260 ! Dysarthria

[Term]
id: HP:0002465
name: Poor speech
synonym: "Difficulty speaking" RELATED layperson []
synonym: "Poor speech" EXACT layperson []
synonym: "Problems speaking" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1848207
xref: UMLS:C4280574
is_a: HP:0002167 ! Abnormal speech pattern

[Term]
id: HP:0002470
name: Nonprogressive cerebellar ataxia
xref: UMLS:C1845029
is_a: HP:0001251 ! Ataxia

[Term]
id: HP:0002472
name: Small cerebral cortex
alt_id: HP:0006791
alt_id: HP:0007151
def: "Reduced size of the cerebral cortex." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased volume of cerebral cortex" EXACT []
xref: UMLS:C1837503
is_a: HP:0002538 ! Abnormal cerebral cortex morphology

[Term]
id: HP:0002474
name: Expressive language delay
alt_id: HP:0007192
def: "A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts." [https://orcid.org/0000-0002-0736-9199]
synonym: "Communication delay" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Deficit in expressive language" EXACT []
xref: SNOMEDCT_US:229734008
xref: UMLS:C0454641
xref: UMLS:C1847610
xref: UMLS:C4280573
is_a: HP:0000750 ! Delayed speech and language development

[Term]
id: HP:0002475
name: Myelomeningocele
def: "Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column." [https://orcid.org/0000-0002-0736-9199]
comment: Meningomyelocele can result if more than one or two vertebral bodies are affected by spina bifida. The meningomyelocele is usually covered by a thin, vulnerable membrane. Meningomyelocele is generally accompanied by neurological deficits.
synonym: "Meningomyelocele" EXACT []
synonym: "Spina bifida cystica" EXACT [https://orcid.org/0009-0006-4530-3154]
xref: Fyler:4309
xref: SNOMEDCT_US:203994003
xref: SNOMEDCT_US:414667000
xref: UMLS:C0025312
is_a: HP:0034237 ! Open neural tube defect

[Term]
id: HP:0002476
name: Primitive reflex
def: "The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant." [PMID:12700289]
synonym: "Archaic reflex" EXACT []
synonym: "Primitive reflexes" EXACT []
xref: UMLS:C1838319
is_a: HP:0031826 ! Abnormal reflex

[Term]
id: HP:0002478
name: Progressive spastic quadriplegia
synonym: "Progressive spastic quadriparesis" EXACT []
xref: UMLS:C1859736
is_a: HP:0002191 ! Progressive spasticity

[Term]
id: HP:0002480
name: Hepatic encephalopathy
def: "Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:13920009
xref: SNOMEDCT_US:449902003
xref: UMLS:C0019151
is_a: HP:0001298 ! Encephalopathy

[Term]
id: HP:0002483
name: Bulbar signs
xref: UMLS:C1856507
is_a: HP:0012638 ! Abnormal nervous system physiology

[Term]
id: HP:0002486
name: Myotonia
alt_id: HP:0003632
alt_id: HP:0003754
alt_id: HP:0003792
def: "An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation." [https://orcid.org/0000-0002-0736-9199]
comment: Patients often describe myotonia as stiffness that is worse at the onset of activity and that improves with repeated muscle contractions. Myotonia tends to worsen in cold weather. Myotonia can be elicited by voluntary muscle contraction of by muscle percussion (e.g., by tapping the thenar eminence). During physical examination, myotonia may be elicited by asking the patient to make a tight fist and then quickly open the hand. Myotonia is caused by an abnormality in the muscle membrane, i.e., of the ion channels that control the contraction of muscle fibers.
synonym: "Delayed relaxation of muscle fibers after contraction" EXACT []
synonym: "Delayed relaxation of muscle fibres after contraction" EXACT uk_spelling []
xref: SNOMEDCT_US:3434004
xref: UMLS:C0027125
is_a: HP:0011804 ! Abnormal muscle physiology

[Term]
id: HP:0002487
name: Hyperkinetic movements
def: "Motor hyperactivity with excessive movement of muscles of the body as a whole." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hyperactive movements" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Hyperkinesia" EXACT []
synonym: "Hyperkinesis" EXACT []
xref: SNOMEDCT_US:44548000
xref: SNOMEDCT_US:45352006
xref: UMLS:C0037763
xref: UMLS:C0424295
is_a: HP:0100022 ! Abnormality of movement

[Term]
id: HP:0002488
name: Acute leukemia
def: "A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." [NCIT:C9300]
synonym: "Acute blood cancer" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Acute leukaemia" EXACT uk_spelling []
synonym: "Acute leukemias" EXACT []
xref: SNOMEDCT_US:24072005
xref: SNOMEDCT_US:91855006
xref: UMLS:C0085669
xref: UMLS:C4280572
is_a: HP:0001909 ! Leukemia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-27T10:32:00Z

[Term]
id: HP:0002490
name: Increased CSF lactate
def: "Increased concentration of lactate in the cerebrospinal fluid." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hyperlactatorachia" EXACT []
synonym: "Increased cerebrospinal fluid lactate" EXACT []
synonym: "Increased CSF lactic acid" EXACT []
xref: UMLS:C1167918
is_a: HP:0030085 ! Abnormal CSF lactate concentration

[Term]
id: HP:0002491
name: Spasticity of facial muscles
alt_id: HP:0000313
def: "Spasticity of one or more muscles innervated by the facial nerve." []
comment: Spasticity of facial muscles can result in slow oral movements that are imprecise and require a lot of effort.
synonym: "Increased stiffness of facial muscles" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased tone of facial muscles" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Spasticity of the facial muscles" EXACT []
xref: UMLS:C1853404
xref: UMLS:C4280570
xref: UMLS:C4280571
is_a: HP:0000301 ! Abnormality of facial musculature
is_a: HP:0001257 ! Spasticity

[Term]
id: HP:0002492
name: Abnormal corticospinal tract morphology
alt_id: HP:0006912
def: "Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the corticospinal tract" RELATED []
synonym: "Involvement of the corticospinal pathways" RELATED []
synonym: "Morphological abnormality of the corticospinal tract" EXACT []
xref: UMLS:C4020852
xref: UMLS:C4025704
is_a: HP:0002062 ! Abnormal pyramidal tract morphology

[Term]
id: HP:0002493
name: Upper motor neuron dysfunction
def: "A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs." [https://orcid.org/0000-0002-0736-9199]
comment: A functional deficit of the tract that conveys nervous impulses from the motor cortex of the brain to the spinal cord. The corticospinal tract mediates discrete voluntary skilled movements. Clinical features of corticospinal tract dysfunction may include spasticity and weakness, particularly affecting the lower limbs, as well as hyperreflexia, clonus at the ankles and knees, and extensor plantar responses (Babinski response).
synonym: "Corticospinal tract dysfunction" EXACT []
synonym: "Pyramidal tract dysfunction" EXACT []
xref: UMLS:C1504405
xref: UMLS:C1839042
is_a: HP:0011442 ! Abnormal central motor function

[Term]
id: HP:0002494
name: Abnormal rapid eye movement sleep
def: "Abnormality of REM Sleep are phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tone except for the eye and middle-ear muscles. There are also phases of rapid eye movements." [PMID:31910377, PMID:32179430]
synonym: "Abnormal REM sleep" EXACT []
xref: SNOMEDCT_US:69020003
xref: UMLS:C0392188
is_a: HP:0002360 ! Sleep abnormality
property_value: terms:contributor https://orcid.org/0000-0001-6262-8264
property_value: terms:contributor https://orcid.org/0000-0001-9446-5121
property_value: terms:contributor https://orcid.org/0000-0002-1592-0825
property_value: terms:contributor https://orcid.org/0000-0002-4672-4923
property_value: terms:contributor https://orcid.org/0000-0002-5554-6946
property_value: terms:contributor https://orcid.org/0000-0002-7367-663X

[Term]
id: HP:0002495
name: Impaired vibratory sensation
alt_id: HP:0006836
alt_id: HP:0007116
def: "A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient." [https://orcid.org/0000-0002-0736-9199]
comment: Impaired vibratory sensation may suggesti involvement of the posterior column-medial lemniscus pathway, which is responsible for transmitting fine touch, vibration and conscious proprioceptive information from the body to the cerebral cortex.
synonym: "Decreased vibration sense" EXACT layperson []
synonym: "Decreased vibratory sense" EXACT layperson []
synonym: "Diminished vibratory sense" EXACT layperson []
synonym: "Hypopallesthesia" EXACT []
synonym: "Impaired vibratory sensation" EXACT layperson []
synonym: "Impaired vibratory sense" EXACT layperson []
xref: SNOMEDCT_US:130980003
xref: UMLS:C1295585
is_a: HP:0010831 ! Impaired proprioception

[Term]
id: HP:0002497
name: Spastic ataxia
xref: UMLS:C1849156
is_a: HP:0001251 ! Ataxia

[Term]
id: HP:0002500
name: Abnormal cerebral white matter morphology
alt_id: HP:0200100
def: "An abnormality of the cerebral white matter." [https://orcid.org/0000-0002-0736-9199]
comment: This finding can be demonstrated by magnetic resonance imaging, especially with t2 signaling. The cerebral white matter is the region of the central nervous system that consists mostly of glial cells and myelinated axons that interconnect the various regions of the cerebrum and the lower brain centers. It is located in the subcortex.
synonym: "Abnormality of subcortical white matter" EXACT []
synonym: "Abnormality of the cerebral white matter" EXACT []
synonym: "Cerebral white matter abnormalities" EXACT []
synonym: "Cortical white matter abnormalities seen on MRI" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Leukoaraiosis" EXACT [PMID:3800716]
synonym: "White matter abnormalities" EXACT []
synonym: "White matter alterations" EXACT []
xref: UMLS:C0948163
xref: UMLS:C4020851
is_a: HP:0010993 ! Abnormal cerebral subcortex morphology

[Term]
id: HP:0002501
name: Spasticity of pharyngeal muscles
xref: UMLS:C1853398
is_a: HP:0001257 ! Spasticity

[Term]
id: HP:0002503
name: Spinocerebellar tract degeneration
synonym: "Degeneration of the spinocerebellar tracts" EXACT []
synonym: "Spinocerebellar degeneration" EXACT []
xref: UMLS:C1866751
is_a: HP:0003133 ! Abnormality of the spinocerebellar tracts

[Term]
id: HP:0002504
name: Calcification of the small brain vessels
def: "Deposition of calcium salts within small blood vessels of the brain." [https://orcid.org/0000-0002-0736-9199]
comment: This finding can be made upon neuropathologic examination.
xref: UMLS:C4025703
is_a: HP:0009145 ! Abnormal cerebral artery morphology
is_a: HP:0031306 ! Intracranial arterial calcification

[Term]
id: HP:0002505
name: Loss of ambulation
alt_id: HP:0006957
def: "Inability to walk in a person who previous had the ability to walk." []
synonym: "Loss of ability to walk" EXACT layperson []
xref: UMLS:C1836843
is_a: HP:0002540 ! Inability to walk

[Term]
id: HP:0002506
name: Diffuse cerebral atrophy
alt_id: HP:0006954
def: "Diffuse unlocalised atrophy affecting the cerebrum." [https://orcid.org/0009-0006-4530-3154]
synonym: "Cerebral atrophy, diffuse" EXACT []
xref: UMLS:C0598275
is_a: HP:0002059 ! Cerebral atrophy

[Term]
id: HP:0002507
name: Semilobar holoprosencephaly
def: "A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." [HPO_CONTRIBUTOR:GC_HPE]
xref: SNOMEDCT_US:253138008
xref: UMLS:C0751617
is_a: HP:0001360 ! Holoprosencephaly

[Term]
id: HP:0002508
name: Brainstem dysplasia
alt_id: HP:0006991
def: "A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord." [https://orcid.org/0000-0002-0736-9199]
synonym: "Brainstem hypoplasia/dysplasia" EXACT []
synonym: "Malformation of brainstem structures" EXACT []
xref: UMLS:C1855677
is_a: HP:0002363 ! Abnormal brainstem morphology

[Term]
id: HP:0002509
name: Limb hypertonia
synonym: "Appendicular hypertonia" EXACT []
synonym: "Increased muscle tone of arm or leg" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1838391
is_a: HP:0001276 ! Hypertonia
is_a: HP:0009127 ! Abnormality of the musculature of the limbs

[Term]
id: HP:0002510
name: Spastic tetraplegia
alt_id: HP:0001280
alt_id: HP:0006983
def: "Spastic paralysis affecting all four limbs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Spastic quadriplegia" EXACT []
xref: SNOMEDCT_US:192965001
xref: UMLS:C0426970
is_a: HP:0034353 ! Appendicular spasticity
is_a: HP:0100021 ! Cerebral palsy

[Term]
id: HP:0002511
name: Alzheimer disease
alt_id: HP:0006878
alt_id: HP:0007213
def: "A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads." [https://orcid.org/0000-0002-0736-9199]
comment: Note that this is a bundled term that refers to a disease rather than to phenotypic features. It is retained for convenience since Alzheimer disease is used for annotation of other diseases (e.g., Down syndrome) as if it were a feature. If possible it is preferable to annotate with the precise phenotypic features.
synonym: "Alzheimer disease" EXACT layperson []
synonym: "Late-onset form of familial Alzheimer disease" EXACT layperson []
xref: DOID:10652
xref: MONDO:0004975
xref: SNOMEDCT_US:230267005
xref: SNOMEDCT_US:26929004
xref: UMLS:C0002395
xref: UMLS:C1863051
is_a: HP:0002011 ! Morphological central nervous system abnormality

[Term]
id: HP:0002512
name: Brain stem compression
xref: SNOMEDCT_US:25816005
xref: SNOMEDCT_US:5582005
xref: UMLS:C0270680
is_a: HP:0002363 ! Abnormal brainstem morphology

[Term]
id: HP:0002514
name: Cerebral calcification
alt_id: HP:0002502
alt_id: HP:0005806
alt_id: HP:0006848
def: "The presence of calcium deposition within the cerebrum." [https://orcid.org/0000-0002-0736-9199]
comment: This finding can be demonstrated upon cerebral computer tomography, magnetic resonance imaging, or potentially by standard radiography of the skull. The cerebrum is the largest of the five major components of the brain, which comprise the cerebrum, cerebellum, brain stem, pituitary gland, and hypothalamus.
synonym: "Abnormal deposits of calcium in the brain" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:17944005
xref: UMLS:C0270685
is_a: HP:0002060 ! Abnormal cerebral morphology
is_a: HP:0430048 ! Intracranial calcification

[Term]
id: HP:0002515
name: Waddling gait
def: "Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck." [PMID:27770207]
synonym: "Waddling gait" EXACT layperson []
synonym: "Waddling walk" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:271706000
xref: UMLS:C0231712
is_a: HP:0001288 ! Gait disturbance

[Term]
id: HP:0002516
name: Increased intracranial pressure
def: "An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid." [https://orcid.org/0000-0002-0736-9199]
comment: Normal values of intracranial pressure in adults are around 7-15 mm Hg in the supine position. The term pseudotumor cerebri (also: idiopathic intracranial hypertension or benign intracranial hypertension) is the presence of increased intracranial pressure in the absence of a brain tumor or other identifiable cause. It should be coded using this term and negations of appropriate other HPO terms. Increased intracranial pressure can damage tissue, contribute to hydrocephalus, cause brain herniation, and restrict blood supply to the brain.
synonym: "Intracranial hypertension" EXACT []
synonym: "Intracranial pressure elevation" EXACT []
synonym: "Pseudotumor cerebri" RELATED []
synonym: "Rise in pressure inside skull" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:271719001
xref: UMLS:C0151740
is_a: HP:0012640 ! Abnormality of intracranial pressure

[Term]
id: HP:0002518
name: Abnormal periventricular white matter morphology
def: "A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles." []
synonym: "Abnormality of the periventricular white matter" EXACT []
synonym: "Periventricular white matter abnormalities" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C2673431
is_a: HP:0002352 ! Leukoencephalopathy
is_a: HP:0002500 ! Abnormal cerebral white matter morphology

[Term]
id: HP:0002519
name: Hypnagogic hallucination
def: "Hypnagogic hallucinations are brief hallucinations that occur as you are falling asleep." [PMID:27872259]
comment: Hypnagogic hallucinations are typically reported as visual, auditory, and tactile sensations. Visual phenomena often consist of kaleidoscopically changing patterns, shapes, and flashes of light. Lifelike and highly detailed images of animals, people, faces, and scenes are also common, displaying a wide range of vivid colors. Auditory experiences, although less frequent, may include voices, as well as sounds like a ringing phone, doorbell, or music. These auditory impressions may involve words, names, conversations, or environmental and animal sounds. Additionally, hypnagogic hallucinations can manifest as somatic experiences, which include bodily distortions, feelings of weightlessness, sensations of flying or falling, and an eerie sense of a presence in the room.
synonym: "Hallucinations while falling asleep" EXACT []
xref: SNOMEDCT_US:44780000
xref: UMLS:C0233773
is_a: HP:0000738 ! Hallucinations
is_a: HP:5200296 ! Abnormal hypnagogia
property_value: terms:contributor https://orcid.org/0000-0001-7062-8192
property_value: terms:contributor https://orcid.org/0000-0001-7941-2961
property_value: terms:contributor https://orcid.org/0000-0001-9221-9226
property_value: terms:contributor https://orcid.org/0000-0002-0183-1637
property_value: terms:contributor https://orcid.org/0000-0003-1785-7126
property_value: terms:contributor https://orcid.org/0000-0003-2291-6952
property_value: terms:contributor https://orcid.org/0000-0003-4958-6025

[Term]
id: HP:0002521
name: Hypsarrhythmia
def: "Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypsarrhythmia by EEG" EXACT []
xref: SNOMEDCT_US:28055006
xref: UMLS:C0684276
is_a: HP:0011198 ! EEG with generalized epileptiform discharges

[Term]
id: HP:0002522
name: Areflexia of lower limbs
def: "Inability to elicit tendon reflexes in the lower limbs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent lower limb tendon reflexes" EXACT []
synonym: "Areflexia in lower limbs" EXACT []
synonym: "Areflexia of the lower limbs" EXACT []
synonym: "Areflexia, lower limbs" EXACT []
xref: UMLS:C1856694
is_a: HP:0001284 ! Areflexia
is_a: HP:0002814 ! Abnormality of the lower limb

[Term]
id: HP:0002524
name: Cataplexy
alt_id: HP:0002428
alt_id: HP:0002525
def: "A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions." [https://orcid.org/0000-0002-0736-9199, PMID:21931493, PMID:22249574]
comment: Cataplexy is a frequent feature of narcolepsy, a neurologic disorder characterized by excessive daytime sleepiness and manifestations of disrupted rapid eye movement sleep stage.
xref: SNOMEDCT_US:46263000
xref: UMLS:C0007384
is_a: HP:0011442 ! Abnormal central motor function

[Term]
id: HP:0002526
name: Deficit in nonword repetition
def: "Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025702
is_a: HP:0002167 ! Abnormal speech pattern

[Term]
id: HP:0002527
name: Falls
synonym: "Falls" EXACT layperson []
xref: SNOMEDCT_US:161898004
xref: SNOMEDCT_US:1912002
xref: UMLS:C0085639
is_a: HP:0001288 ! Gait disturbance

[Term]
id: HP:0002528
name: Granulovacuolar degeneration
def: "Electron-dense granules within double membrane-bound cytoplasmic vacuoles." [PMID:22073234]
comment: Degeneration of hippocampal cells characterized by basophilic granules surrounded by a clear zone in hippocampal neurons. Frequently occurs in Alzheimers disease.
xref: SNOMEDCT_US:90506004
xref: UMLS:C0333454
is_a: HP:0002060 ! Abnormal cerebral morphology
is_a: HP:0002180 ! Neurodegeneration

[Term]
id: HP:0002529
name: Neuronal loss in central nervous system
alt_id: HP:0002400
comment: This finding can be demonstrated by neuropathology.
synonym: "Loss of brain cells" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Neuronal loss" EXACT []
synonym: "Neuronal loss in CNS" EXACT abbreviation []
xref: UMLS:C1850496
is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system

[Term]
id: HP:0002530
name: Axial dystonia
def: "A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles." [https://orcid.org/0000-0002-0736-9199]
synonym: "Truncal dystonia" EXACT []
xref: UMLS:C1836149
is_a: HP:0001332 ! Dystonia

[Term]
id: HP:0002533
name: Abnormal posturing
def: "Involuntary flexion or extension of the arms and legs." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:43029002
xref: UMLS:C0231471
is_a: HP:0100022 ! Abnormality of movement

[Term]
id: HP:0002536
name: Abnormal cortical gyration
alt_id: HP:0006900
def: "An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal gyration" EXACT []
synonym: "Cerebral gyral anomalies" EXACT []
synonym: "Gyral disorganisation" BROAD uk_spelling []
synonym: "Gyral disorganization" BROAD []
xref: UMLS:C1856019
is_a: HP:0002269 ! Abnormality of neuronal migration
is_a: HP:0002538 ! Abnormal cerebral cortex morphology

[Term]
id: HP:0002538
name: Abnormal cerebral cortex morphology
def: "Any structural abnormality of the cerebral cortex." [https://orcid.org/0000-0002-0736-9199, PMID:31373394]
comment: The cerebral cortex constitutes more than half the volume of the human brain and is presumed to be responsible for the neuronal computations underlying complex phenomena, such as perception, thought, language, attention, episodic memory and voluntary movement.
synonym: "Abnormality of the cerebral cortex" EXACT []
xref: UMLS:C4025701
is_a: HP:0002060 ! Abnormal cerebral morphology

[Term]
id: HP:0002539
name: Cortical dysplasia
alt_id: HP:0007139
def: "The presence of developmental dysplasia of the cerebral cortex." [https://orcid.org/0000-0002-0736-9199]
synonym: "Neocortical dysplasia" EXACT []
xref: SNOMEDCT_US:253153000
xref: UMLS:C0431380
is_a: HP:0002538 ! Abnormal cerebral cortex morphology

[Term]
id: HP:0002540
name: Inability to walk
def: "Incapability to ambulate." [https://orcid.org/0000-0002-0736-9199]
synonym: "Inability to walk" EXACT layperson []
synonym: "Non-ambulatory" EXACT []
xref: SNOMEDCT_US:282145008
xref: UMLS:C0560046
is_a: HP:0001288 ! Gait disturbance

[Term]
id: HP:0002542
name: Olivopontocerebellar atrophy
alt_id: HP:0005683
def: "Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Olivopontocerebellar degeneration" EXACT []
xref: SNOMEDCT_US:67761004
xref: UMLS:C0028968
is_a: HP:0001317 ! Abnormal cerebellum morphology

[Term]
id: HP:0002544
name: Retrocollis
def: "A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture." [https://orcid.org/0000-0002-0736-9199, PMID:17917462]
comment: Retrocollis is a spasmodic form of torticollis in which the head is drawn back.
xref: UMLS:C3887667
is_a: HP:0000473 ! Torticollis

[Term]
id: HP:0002545
name: Patchy demyelination of subcortical white matter
def: "Patchy loss of myelin from nerve fibers in the central nervous system." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1857638
is_a: HP:0007305 ! CNS demyelination

[Term]
id: HP:0002546
name: Incomprehensible speech
synonym: "Incomprehensible speech" EXACT layperson []
xref: UMLS:C1838027
is_a: HP:0002167 ! Abnormal speech pattern

[Term]
id: HP:0002548
name: Parkinsonism with favorable response to dopaminergic medication
def: "Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication." []
synonym: "Favorable response to levodopa" RELATED []
synonym: "Favourable response to levodopa" RELATED uk_spelling []
synonym: "Parkinsonism with favourable response to dopaminergic medication" EXACT uk_spelling []
xref: UMLS:C1846868
is_a: HP:0001300 ! Parkinsonism

[Term]
id: HP:0002549
name: Deficit in phonologic short-term memory
def: "Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory" [PMID:19646677]
synonym: "Deficit in non-word repetition" EXACT []
synonym: "Impaired non-word repetition" EXACT []
xref: UMLS:C1847609
is_a: HP:0033687 ! Short term memory impairment

[Term]
id: HP:0002550
name: Absent facial hair
def: "Absence of facial hair." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent facial hair" EXACT layperson []
xref: UMLS:C1848192
is_a: HP:0002298 ! Absent hair

[Term]
id: HP:0002552
name: Trichodysplasia
alt_id: HP:0004515
def: "Developmental dysplasia of the hair." [https://orcid.org/0000-0002-0736-9199]
synonym: "Generalised trichodysplasia" RELATED uk_spelling []
synonym: "Generalized trichodysplasia" RELATED []
xref: UMLS:C4020850
xref: UMLS:C4025700
is_a: HP:0001595 ! Abnormal hair morphology

[Term]
id: HP:0002553
name: Highly arched eyebrow
alt_id: HP:0001584
alt_id: HP:0004533
alt_id: HP:0007681
alt_id: HP:0007804
alt_id: HP:0008505
def: "Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape." [PMID:19125427]
comment: Most eyebrows have some arch with downturning medially and laterally.
subset: hposlim_core
synonym: "Arched eyebrows" EXACT layperson []
synonym: "Bowed and upward slanting eyebrows" RELATED layperson []
synonym: "Broad, arched eyebrows" EXACT layperson []
synonym: "High arched eyebrows" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "High, rounded eyebrows" EXACT layperson []
synonym: "High-arched eyebrows" EXACT layperson []
synonym: "Highly arched eyebrow" EXACT layperson []
synonym: "Thick, flared eyebrows" EXACT layperson []
xref: UMLS:C1868571
xref: UMLS:C4020849
is_a: HP:0000534 ! Abnormal eyebrow morphology

[Term]
id: HP:0002555
name: Absent pubic hair
alt_id: HP:0004537
alt_id: HP:0004556
def: "Absence of pubic hair." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Absent pubic hair" EXACT layperson []
xref: UMLS:C1859391
is_a: HP:0002298 ! Absent hair
is_a: HP:0100133 ! Abnormality of the pubic hair

[Term]
id: HP:0002557
name: Hypoplastic nipples
alt_id: HP:0002560
alt_id: HP:0003188
alt_id: HP:0006652
def: "Underdevelopment of the nipple." [https://orcid.org/0000-0002-0736-9199]
synonym: "Nipple hypoplasia" EXACT []
synonym: "Small nipples" EXACT layperson []
xref: SNOMEDCT_US:268290005
xref: UMLS:C0432355
is_a: HP:0006709 ! Aplasia/Hypoplasia of the nipples

[Term]
id: HP:0002558
name: Supernumerary nipple
alt_id: HP:0002559
def: "Presence of more than two nipples." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "accessory mamilla" EXACT []
synonym: "accessory mamillas" RELATED []
synonym: "Accessory nipple" EXACT layperson []
synonym: "Accessory nipples" RELATED layperson []
synonym: "Increased nipple number" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Supernumerary nipples" RELATED []
xref: Fyler:4234
xref: SNOMEDCT_US:50956007
xref: UMLS:C0266011
is_a: HP:0004404 ! Abnormal nipple morphology

[Term]
id: HP:0002561
name: Absent nipple
def: "Congenital failure to develop, and absence of, the nipple." []
comment: This finding can be unilateral or bilateral.
synonym: "Absent nipple" EXACT layperson []
synonym: "Absent nipples" EXACT layperson []
synonym: "Athelia" EXACT []
xref: SNOMEDCT_US:248820000
xref: UMLS:C0425795
is_a: HP:0006709 ! Aplasia/Hypoplasia of the nipples

[Term]
id: HP:0002562
name: Low-set nipples
def: "Placement of the nipples at a lower than normal location." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Low-set nipples" EXACT layperson []
xref: UMLS:C1836933
is_a: HP:0004404 ! Abnormal nipple morphology

[Term]
id: HP:0002563
name: Constrictive pericarditis
def: "Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:85598007
xref: UMLS:C0031048
is_a: HP:0001701 ! Pericarditis

[Term]
id: HP:0002564
name: obsolete Malformation of the heart and great vessels
is_obsolete: true
replaced_by: HP:0030680

[Term]
id: HP:0002566
name: Intestinal malrotation
alt_id: HP:0002026
def: "An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis." [https://orcid.org/0000-0002-0736-9199, PMID:12438031]
subset: hposlim_core
synonym: "Gut malrotation" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Malrotation" EXACT []
xref: MEDDRA:10064024 "Intestinal malrotation"
xref: SNOMEDCT_US:253789002
xref: SNOMEDCT_US:29980002
xref: SNOMEDCT_US:48641006
xref: UMLS:C0221210
is_a: HP:0002242 ! Abnormal intestine morphology

[Term]
id: HP:0002570
name: Steatorrhea
def: "Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fat in faeces" EXACT uk_spelling []
synonym: "Fat in feces" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Fatty stool" EXACT []
synonym: "Greasy stools" EXACT layperson []
xref: SNOMEDCT_US:27868004
xref: SNOMEDCT_US:66187002
xref: UMLS:C0038238
is_a: HP:0002630 ! Fat malabsorption

[Term]
id: HP:0002571
name: Achalasia
def: "A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus." [https://orcid.org/0000-0002-0736-9199]
comment: Achalasia may lead to regurgitation of food, chest pain, cough, and difficulty swallowing.
subset: hposlim_core
synonym: "Achalasia of the esophagus" EXACT []
synonym: "Achalasia of the oesophagus" EXACT uk_spelling []
xref: MEDDRA:10030136 "Oesophageal achalasia"
xref: SNOMEDCT_US:45564002
xref: UMLS:C0014848
is_a: HP:0031857 ! Ineffective esophageal peristalsis

[Term]
id: HP:0002572
name: Episodic vomiting
def: "Paroxysmal, recurrent episodes of vomiting." [https://orcid.org/0000-0002-0736-9199]
synonym: "Episodic vomiting" EXACT layperson []
synonym: "Frequent vomiting" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1838993
xref: UMLS:C1857202
is_a: HP:0002013 ! Vomiting

[Term]
id: HP:0002573
name: Hematochezia
alt_id: HP:0002255
alt_id: HP:0002609
def: "The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus." [https://orcid.org/0000-0002-6410-0882]
comment: Bright red blood in stool, most frequentoly caused by hemorrhoids or diverticulosis.
synonym: "Rectal bleeding" EXACT layperson []
synonym: "Recurrent rectal bleeding" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:236068001
xref: SNOMEDCT_US:405729008
xref: UMLS:C0018932
is_a: HP:0002239 ! Gastrointestinal hemorrhage
is_a: HP:0025085 ! Bloody diarrhea

[Term]
id: HP:0002574
name: Episodic abdominal pain
def: "An intermittent form of abdominal pain." [https://orcid.org/0000-0002-0736-9199]
synonym: "Intermittent abdominal pain" RELATED layperson []
xref: UMLS:C0262527
xref: UMLS:C3808022
is_a: HP:0002027 ! Abdominal pain
is_a: HP:0032148 ! Episodic pain

[Term]
id: HP:0002575
name: Tracheoesophageal fistula
def: "An abnormal connection (fistula) between the esophagus and the trachea." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormal connection between trachea and esophagus" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Abnormal connection between trachea and oesophagus" BROAD uk_spelling []
xref: Fyler:4202
xref: MEDDRA:10044310 "Tracheo-oesophageal fistula"
xref: SNOMEDCT_US:95435007
xref: UMLS:C0040588
is_a: HP:0002031 ! Abnormal esophagus morphology
is_a: HP:0002778 ! Abnormal tracheal morphology

[Term]
id: HP:0002576
name: Intussusception
def: "An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine." [https://orcid.org/0000-0002-0736-9199]
comment: Intussusception can lead to intestinal obstruction as well as to the interruption of the blood supply to the intestine. It can affect small or large bowel.
subset: hposlim_core
xref: MEDDRA:10022863 "Intussusception"
xref: SNOMEDCT_US:35327006
xref: SNOMEDCT_US:49723003
xref: UMLS:C0021933
is_a: HP:0002242 ! Abnormal intestine morphology

[Term]
id: HP:0002577
name: Abnormal stomach morphology
def: "An abnormality of the stomach." [https://orcid.org/0000-0002-0736-9199]
comment: The stomach is the hollow, muscular organ of the gastrointestinal tract between the esophagus and the small intestine.
synonym: "Abnormality of the stomach" EXACT []
xref: UMLS:C4025699
is_a: HP:0012718 ! Abnormal gastrointestinal tract morphology

[Term]
id: HP:0002578
name: Gastroparesis
def: "Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Delayed gastric emptying" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:196753007
xref: SNOMEDCT_US:235675006
xref: UMLS:C0152020
is_a: HP:0011804 ! Abnormal muscle physiology
is_a: HP:0025032 ! Abnormality of digestive system physiology

[Term]
id: HP:0002579
name: Gastrointestinal dysmotility
def: "Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "GI dysmotility" EXACT abbreviation []
xref: UMLS:C1836923
is_a: HP:0030895 ! Abnormal gastrointestinal motility

[Term]
id: HP:0002580
name: Volvulus
def: "Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue." [https://orcid.org/0000-0002-0736-9199]
comment: Volvulus can lead to intestinal obstruction and ischemia.
xref: SNOMEDCT_US:90738007
xref: SNOMEDCT_US:9707006
xref: UMLS:C0042961
is_a: HP:0002242 ! Abnormal intestine morphology

[Term]
id: HP:0002582
name: Atrophic gastritis
def: "Atrophic gastritis (AG) is a histopathological entity that is characterized by chronic inflammation of the gastric mucosa with loss of gastric glandular cells and replacement by intestinal-type epithelium, pyloric-type glands, and fibrous tissue." [https://orcid.org/0000-0002-0736-9199, PMID:21483628]
comment: Atrophy of the gastric mucosa is the endpoint of chronic processes, such as chronic gastritis associated with Helicobacter pylori (H. pylori) infection, other unidentified environmental factors, and autoimmunity directed against gastric glandular cells.
synonym: "Chronic atrophic gastritis" EXACT []
xref: SNOMEDCT_US:84568007
xref: UMLS:C0017154
is_a: HP:0005263 ! Gastritis

[Term]
id: HP:0002583
name: Colitis
def: "Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases." [https://orcid.org/0009-0006-4530-3154]
xref: SNOMEDCT_US:64226004
xref: UMLS:C0009319
is_a: HP:0002037 ! Inflammation of the large intestine

[Term]
id: HP:0002584
name: Intestinal bleeding
def: "Bleeding from the intestines." [https://orcid.org/0000-0003-2945-4463]
synonym: "Intestinal bleeding" EXACT layperson []
synonym: "Intestinal haemorrhage" EXACT uk_spelling []
synonym: "Intestinal hemorrhage" EXACT []
xref: SNOMEDCT_US:712510007
xref: UMLS:C0267373
is_a: HP:0002239 ! Gastrointestinal hemorrhage
is_a: HP:0002242 ! Abnormal intestine morphology

[Term]
id: HP:0002585
name: Abnormal peritoneum morphology
def: "An abnormality of the peritoneum." [https://orcid.org/0000-0002-0736-9199]
comment: The peritoneum is the thin tissue that lines the inner wall of the abdomen and covers most of the abdominal organs.
synonym: "Abnormality of the peritoneum" EXACT []
xref: UMLS:C4025698
is_a: HP:0002012 ! Abnormality of the abdominal organs

[Term]
id: HP:0002586
name: Peritonitis
alt_id: HP:0100591
def: "Inflammation of the peritoneum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Inflammation of the peritoneum" EXACT []
xref: SNOMEDCT_US:48661000
xref: UMLS:C0031154
is_a: HP:0002585 ! Abnormal peritoneum morphology
is_a: HP:0045073 ! Serositis

[Term]
id: HP:0002587
name: Projectile vomiting
def: "Vomiting that ejects the gastric contents with great force." [https://orcid.org/0000-0002-0736-9199]
synonym: "Projectile vomiting" EXACT layperson []
xref: SNOMEDCT_US:8579004
xref: UMLS:C0221151
is_a: HP:0002013 ! Vomiting

[Term]
id: HP:0002588
name: Duodenal ulcer
def: "An erosion of the mucous membrane in a portion of the duodenum." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
xref: MEDDRA:10013836 "Duodenal ulcer"
xref: SNOMEDCT_US:367474008
xref: SNOMEDCT_US:51868009
xref: UMLS:C0013295
is_a: HP:0002246 ! Abnormal duodenum morphology
is_a: HP:0034274 ! Gastrointestinal ulcer

[Term]
id: HP:0002589
name: Gastrointestinal atresia
synonym: "GI atresia" EXACT abbreviation []
xref: UMLS:C4025697
is_a: HP:0012718 ! Abnormal gastrointestinal tract morphology

[Term]
id: HP:0002590
name: Paralytic ileus
xref: SNOMEDCT_US:55525008
xref: UMLS:C0030446
is_a: HP:0002595 ! Ileus

[Term]
id: HP:0002591
name: Polyphagia
alt_id: HP:0000724
alt_id: HP:0002042
def: "A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hyperphagia" EXACT []
synonym: "Increased appetite" RELATED layperson []
synonym: "Voracious appetite" EXACT layperson []
xref: SNOMEDCT_US:267023007
xref: SNOMEDCT_US:58424009
xref: SNOMEDCT_US:72405004
xref: UMLS:C0020505
xref: UMLS:C0232461
is_a: HP:0100738 ! Abnormal eating behavior

[Term]
id: HP:0002592
name: Gastric ulcer
def: "An ulcer, that is, an erosion of an area of the gastric mucous membrane." [https://orcid.org/0000-0002-0736-9199]
comment: The presence of a mucosal erosion equal to or greater than 0.5 cm.
subset: hposlim_core
synonym: "Stomach ulcer" EXACT layperson []
xref: MEDDRA:10017822 "Gastric ulcer"
xref: SNOMEDCT_US:397825006
xref: UMLS:C0038358
is_a: HP:0004295 ! Abnormal gastric mucosa morphology
is_a: HP:0004398 ! Peptic ulcer

[Term]
id: HP:0002593
name: Intestinal lymphangiectasia
def: "Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:197260007
xref: UMLS:C0024215
is_a: HP:0002242 ! Abnormal intestine morphology
is_a: HP:0031842 ! Lymphangiectasis

[Term]
id: HP:0002594
name: Pancreatic hypoplasia
alt_id: HP:0005221
def: "Hypoplasia of the pancreas." [https://orcid.org/0000-0002-0736-9199]
comment: Hypoplasia is defined in MPATH as resulting in a small organ or structure owing to failure to develop to normal size.
synonym: "Hypoplastic pancreas" EXACT []
synonym: "Underdeveloped pancreas" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:68591005
xref: UMLS:C0266267
is_a: HP:0100800 ! Aplasia/Hypoplasia of the pancreas

[Term]
id: HP:0002595
name: Ileus
def: "Acute obstruction of the intestines preventing passage of the contents of the intestines." [https://orcid.org/0009-0006-4530-3154]
subset: hposlim_core
synonym: "Gastrointestinal atony" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: MEDDRA:10021328 "Ileus"
xref: UMLS:C1258215
is_a: HP:0002579 ! Gastrointestinal dysmotility
is_a: HP:0005214 ! Intestinal obstruction

[Term]
id: HP:0002597
name: Abnormality of the vasculature
def: "An abnormality of the vasculature." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of blood vessels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the vasculature" EXACT layperson []
synonym: "Vascular abnormalities" EXACT layperson []
xref: UMLS:C0241657
is_a: HP:0001626 ! Abnormality of the cardiovascular system

[Term]
id: HP:0002599
name: Head titubation
def: "A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction." [https://orcid.org/0000-0002-0736-9199]
comment: Titubation often accompanies midline cerebellar lesions. The 3-4 per second frequency of titubation is faster than the head nodding/bobbing that can be seen with thalamic lesions. The original description of head titubation in 1899 by Gowers (see PMID:4821687) was: As the disease progresses, some jerky irregularity develops in the movement of the neck and head so that the head presents slight movements, sometimes like an irregular tremor, sometimes simulating chorea.
xref: UMLS:C1608410
is_a: HP:0002346 ! Head tremor
is_a: HP:0002457 ! Abnormal head movements
is_a: HP:0030187 ! Titubation

[Term]
id: HP:0002600
name: Hyporeflexia of lower limbs
alt_id: HP:0006861
def: "Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping." [https://orcid.org/0000-0002-0736-9199]
comment: Reflexes are sensorimotor arcs that require some type of sensory (afferent) signal, and some motor response. While the simplest of reflexes involve direct synapse between the sensory fiber and the motor neuron (monosynaptic), many reflexes have several neurons interposed (polysynaptic reflexes). Hyporeflexia can result from a defect anywhere in this chain.
synonym: "Hyporeflexia in lower limbs" EXACT []
synonym: "Hyporeflexia of the lower limbs" EXACT []
synonym: "Hyporeflexia, lower limbs" EXACT []
synonym: "Hyporeflexia/areflexia in lower limbs" EXACT []
xref: UMLS:C1834696
is_a: HP:0001265 ! Hyporeflexia
is_a: HP:0002814 ! Abnormality of the lower limb

[Term]
id: HP:0002601
name: Paresis of extensor muscles of the big toe
xref: UMLS:C4025696
is_a: HP:0001844 ! Abnormal hallux morphology
is_a: HP:0002460 ! Distal muscle weakness

[Term]
id: HP:0002604
name: Gastrointestinal telangiectasia
def: "Telangiectasia affecting the gastrointestinal tract." [https://orcid.org/0000-0002-0736-9199]
comment: Telangiectasia affecting stomach, duodenum, small bowel, and/or colon.
synonym: "GI telangiectasia" EXACT abbreviation []
synonym: "Small, enlarged blood vessels near skin" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1619711
is_a: HP:0004296 ! Abnormal gastrointestinal vascular morphology
is_a: HP:0100579 ! Mucosal telangiectasiae

[Term]
id: HP:0002605
name: Hepatic necrosis
def: "The presence of cell death (necrosis) affecting the liver." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:87248009
xref: UMLS:C0151798
is_a: HP:0410042 ! Abnormal liver morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-20T11:32:00Z

[Term]
id: HP:0002607
name: Bowel incontinence
alt_id: HP:0007147
def: "Involuntary fecal soiling in adults and children who have usually already been toilet trained." [https://orcid.org/0009-0006-4530-3154]
synonym: "Anal incontinence" EXACT []
synonym: "Faecal incontinence" EXACT uk_spelling []
synonym: "Fecal incontinence" EXACT []
synonym: "Loss of bowel control" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:72042002
xref: UMLS:C0015732
is_a: HP:0012700 ! Abnormal large intestine physiology
is_a: HP:0031064 ! Impaired continence

[Term]
id: HP:0002608
name: Celiac disease
def: "Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurrence of CD is seen as a feature of a number of other diseases." [https://orcid.org/0000-0002-0736-9199, PMID:23681421]
synonym: "Celiac disease" EXACT layperson []
synonym: "Celiac sprue" EXACT []
synonym: "Coeliac disease" EXACT uk_spelling []
synonym: "Coeliac sprue" EXACT uk_spelling []
xref: SNOMEDCT_US:396331005
xref: UMLS:C0007570
is_a: HP:0002244 ! Abnormal small intestine morphology
is_a: HP:0100326 ! Immunologic hypersensitivity

[Term]
id: HP:0002611
name: Cholestatic liver disease
xref: UMLS:C0860204
is_a: HP:0001396 ! Cholestasis

[Term]
id: HP:0002612
name: Congenital hepatic fibrosis
def: "The presence of fibrosis of that part of the liver with congenital onset." [https://orcid.org/0000-0002-0736-9199]
comment: Congenital hepatic fibrosis is characterized by enlarged portal tracts with extensive fibrosis and numerous bile ductules that communicate with the bile tree. The affected area tends to be sharply demarcated from normal liver parenchyma and does not display regenerative nodules (which distinguished the condition from cirrhosis).
synonym: "Congenital liver fibrosis" EXACT []
synonym: "Excessive buildup of connective tissue and scarring of liver at birth" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:79607001
xref: UMLS:C0009714
is_a: HP:0001395 ! Hepatic fibrosis

[Term]
id: HP:0002613
name: Biliary cirrhosis
def: "Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease." [https://orcid.org/0000-0002-0736-9199]
synonym: "Primary biliary cirrhosis" RELATED []
xref: SNOMEDCT_US:1761006
xref: SNOMEDCT_US:31712002
xref: UMLS:C0008312
xref: UMLS:C0023892
is_a: HP:0012440 ! Abnormal biliary tract morphology

[Term]
id: HP:0002614
name: Hepatic periportal necrosis
def: "A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C0546389
is_a: HP:0002605 ! Hepatic necrosis

[Term]
id: HP:0002615
name: Hypotension
alt_id: HP:0005127
alt_id: HP:0006701
def: "Low Blood Pressure, vascular hypotension." [https://orcid.org/0000-0002-0736-9199]
synonym: "Arterial hypotension" EXACT []
synonym: "Low blood pressure" EXACT layperson []
xref: SNOMEDCT_US:45007003
xref: UMLS:C0020649
is_a: HP:0030972 ! Abnormal systemic blood pressure

[Term]
id: HP:0002616
name: Aortic root aneurysm
alt_id: HP:0002631
alt_id: HP:0004750
alt_id: HP:0005125
def: "An abnormal localized widening (dilatation) of the aortic root." []
synonym: "Aortic root dilatation" BROAD []
synonym: "Bulge in wall of root of large artery that carries blood away from heart" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Enlarged aortic root" EXACT layperson []
synonym: "Increased aortic root diameter" EXACT []
xref: SNOMEDCT_US:251036003
xref: UMLS:C0238669
is_a: HP:0012727 ! Thoracic aortic aneurysm

[Term]
id: HP:0002617
name: Vascular dilatation
def: "Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart." [https://orcid.org/0000-0002-0736-9199, PMID:30225143]
comment: Aneurysm is considered a severe form of dilatation.
synonym: "Aneurysm" NARROW layperson []
synonym: "Aneurysmal dilatation" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Aneurysmal disease" RELATED layperson []
synonym: "Aneurysms" NARROW layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Wider than typical opening or gap" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: Fyler:2399
xref: SNOMEDCT_US:432119003
xref: SNOMEDCT_US:85659009
xref: UMLS:C0002940
xref: UMLS:C4020848
is_a: HP:0033353 ! Abnormal blood vessel morphology

[Term]
id: HP:0002619
name: Varicose veins
def: "Enlarged and tortuous veins." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:128060009
xref: SNOMEDCT_US:12856003
xref: SNOMEDCT_US:399989005
xref: UMLS:C0042345
is_a: HP:0005293 ! Venous insufficiency

[Term]
id: HP:0002621
name: Atherosclerosis
def: "A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow." [https://orcid.org/0000-0002-0736-9199, PMID:31420554]
comment: Strictly speaking, atherosclerosis is a specific type of arteriosclerosis ('hardening of the arteries'), although the terms are sometimes used interchangeably in clinical jargon.
synonym: "Atherosclerotic cardiovascular disease" EXACT [http://www.mayoclinic.org/diseases-conditions/arteriosclerosis-atherosclerosis/basics/definition/con-20026972?utm_source=google&utm_medium=abstract&utm_content=atherosclerosis&utm_campaign=knowledge-panel, https://orcid.org/0000-0001-5208-3432]
synonym: "Narrowing and hardening of arteries" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Plaque build-up in arteries" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:38716007
xref: UMLS:C0004153
xref: UMLS:C4280569
is_a: HP:0002634 ! Arteriosclerosis

[Term]
id: HP:0002622
name: obsolete Dissecting aortic dilatation
is_obsolete: true
replaced_by: HP:0002647

[Term]
id: HP:0002623
name: Overriding aorta
def: "An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Dextroposition of aorta" EXACT []
synonym: "Overriding aortic valve" EXACT []
xref: Fyler:1432
xref: SNOMEDCT_US:63934006
xref: UMLS:C0011818
xref: UMLS:C0265886
is_a: HP:0001679 ! Abnormal aortic morphology

[Term]
id: HP:0002624
name: Abnormal venous morphology
def: "An anomaly of vein." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal vein" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Venous abnormality" EXACT []
xref: UMLS:C0241665
is_a: HP:0033353 ! Abnormal blood vessel morphology

[Term]
id: HP:0002625
name: Deep venous thrombosis
def: "Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected." [https://orcid.org/0000-0002-0736-9199]
synonym: "Blood clot in a deep vein" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Deep vein thrombosis" EXACT []
synonym: "Multiple deep venous thrombosis" EXACT []
xref: SNOMEDCT_US:128053003
xref: UMLS:C0149871
is_a: HP:0004936 ! Venous thrombosis

[Term]
id: HP:0002626
name: Venous varicosities of celiac and mesenteric vessels
def: "Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein." [https://orcid.org/0000-0002-0736-9199]
synonym: "Venous varicosities of coeliac and mesenteric vessels" EXACT uk_spelling []
xref: UMLS:C1857692
is_a: HP:0002619 ! Varicose veins

[Term]
id: HP:0002627
name: Right aortic arch with mirror image branching
def: "The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0009-0006-4530-3154]
xref: UMLS:C4025695
is_a: HP:0012020 ! Right aortic arch

[Term]
id: HP:0002629
name: Gastrointestinal arteriovenous malformation
def: "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract." []
synonym: "GI arteriovenous malformation" EXACT abbreviation []
xref: UMLS:C0744321
is_a: HP:0004296 ! Abnormal gastrointestinal vascular morphology
is_a: HP:0100026 ! Arteriovenous malformation

[Term]
id: HP:0002630
name: Fat malabsorption
def: "Abnormality of the absorption of fat from the gastrointestinal tract." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:197494007
xref: UMLS:C0554103
is_a: HP:0002024 ! Malabsorption

[Term]
id: HP:0002631
name: obsolete Dilatation of ascending aorta
is_obsolete: true
replaced_by: HP:0002616

[Term]
id: HP:0002632
name: Low-to-normal blood pressure
synonym: "Low-to-normal blood pressure" EXACT layperson []
synonym: "Low-to-normal BP" EXACT abbreviation []
xref: UMLS:C1866500
is_a: HP:0002615 ! Hypotension

[Term]
id: HP:0002633
name: Vasculitis
def: "Inflammation of blood vessel." [https://orcid.org/0000-0002-0736-9199]
synonym: "Angiitis" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Inflammation of blood vessel" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:31996006
xref: UMLS:C0042384
is_a: HP:0033353 ! Abnormal blood vessel morphology

[Term]
id: HP:0002634
name: Arteriosclerosis
def: "Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity." [https://orcid.org/0000-0002-0736-9199]
comment: Although arteriosclerosis and atherosclerosis are often used as if they were synonyms, they are not. Atherosclerosis is the most common type of arteriosclerosis, and is caused by plaque building up in the vessel, which in turn causes sclerosis, increased stiffness, and loss of elasticity of the affected arteries.
synonym: "Hardened artery wall" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:107671003
xref: SNOMEDCT_US:28960008
xref: SNOMEDCT_US:72092001
xref: UMLS:C0003850
xref: UMLS:C4280568
is_a: HP:0011004 ! Abnormal systemic arterial morphology

[Term]
id: HP:0002635
name: Type IV atherosclerotic lesion
def: "In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion." [PMID:7648691]
synonym: "Atheromatosis" RELATED []
xref: SNOMEDCT_US:38716007
xref: UMLS:C0004153
is_a: HP:0031678 ! Atherosclerotic lesion

[Term]
id: HP:0002636
name: Dilatation of an abdominal artery
def: "Abnormal outpouching or sac-like dilatation in an artery that originates from the abdominal aorta." [https://orcid.org/0000-0002-0736-9199]
comment: Aneurysm is considered a severe form of dilatation.
synonym: "Aneurysm of an abdominal artery" NARROW []
xref: UMLS:C4025694
is_a: HP:0002617 ! Vascular dilatation
is_a: HP:0011004 ! Abnormal systemic arterial morphology

[Term]
id: HP:0002637
name: Cerebral ischemia
def: "Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue." []
synonym: "Brain ischemia" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Cerebrovascular ischemia" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Disruption of blood oxygen supply to brain" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:287731003
xref: SNOMEDCT_US:389100007
xref: UMLS:C0007786
xref: UMLS:C0917798
is_a: HP:0033401 ! Tissue ischemia

[Term]
id: HP:0002638
name: Superficial thrombophlebitis
def: "Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein)." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:2477008
xref: UMLS:C1510431
is_a: HP:0004418 ! Thrombophlebitis

[Term]
id: HP:0002639
name: Budd-Chiari syndrome
def: "Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience." [https://orcid.org/0000-0002-0736-9199, PMID:16265183]
xref: SNOMEDCT_US:82385007
xref: UMLS:C0856761
is_a: HP:0030846 ! Abnormality of venous physiology

[Term]
id: HP:0002640
name: Hypertension associated with pheochromocytoma
def: "A type of hypertension associated with pheochromocytoma." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025693
is_a: HP:0000822 ! Hypertension

[Term]
id: HP:0002641
name: Peripheral thrombosis
synonym: "Peripheral blood clot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1849749
is_a: HP:0001977 ! Abnormal thrombosis

[Term]
id: HP:0002642
name: Arteriovenous fistulas of celiac and mesenteric vessels
synonym: "Arteriovenous fistulas of coeliac and mesenteric vessels" EXACT uk_spelling []
xref: UMLS:C1857693
is_a: HP:0002624 ! Abnormal venous morphology
is_a: HP:0004947 ! Arteriovenous fistula

[Term]
id: HP:0002643
name: Neonatal respiratory distress
def: "Respiratory difficulty as newborn." [https://orcid.org/0000-0002-0736-9199]
synonym: "Infantile respiratory distress" EXACT layperson []
synonym: "Neonatal respiratory distress" EXACT layperson []
synonym: "Newborn respiratory distress" EXACT layperson []
synonym: "Respiratory distress, neonatal" EXACT layperson []
xref: UMLS:C0852283
is_a: HP:0002093 ! Respiratory insufficiency

[Term]
id: HP:0002644
name: Abnormal pelvic girdle bone morphology
def: "An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal shape of pelvic girdle bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of pelvic girdle bone morphology" EXACT []
synonym: "Abnormality of the pelvic girdle" RELATED []
xref: UMLS:C4020847
is_a: HP:0011844 ! Abnormal appendicular skeleton morphology

[Term]
id: HP:0002645
name: Wormian bones
def: "The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium." [https://orcid.org/0000-0002-0736-9199]
comment: Irregular, isolated bones in the lambdoidal suture or at the fontanelles.
subset: hposlim_core
synonym: "Extra bones within cranial sutures" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Intra sutural bones" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Intrasutural bones" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Islands of bone within cranial sutures" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:113194005
xref: UMLS:C0222716
is_a: HP:0011329 ! Abnormality of cranial sutures

[Term]
id: HP:0002647
name: Aortic dissection
alt_id: HP:0002622
def: "Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta." [https://orcid.org/0000-0002-0736-9199]
synonym: "Tear in inner wall of large artery that carries blood away from heart" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:308546005
xref: UMLS:C0340643
is_a: HP:0001679 ! Abnormal aortic morphology

[Term]
id: HP:0002648
name: obsolete Abnormality of calvarial morphology
is_obsolete: true
replaced_by: HP:0002683

[Term]
id: HP:0002650
name: Scoliosis
alt_id: HP:0002770
alt_id: HP:0003303
alt_id: HP:0003317
alt_id: HP:0003415
def: "The presence of an abnormal lateral curvature of the spine." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Cobb angle greater than ten degrees" RELATED []
xref: Fyler:4160
xref: SNOMEDCT_US:111266001
xref: SNOMEDCT_US:64217002
xref: UMLS:C0037932
xref: UMLS:C0700208
is_a: HP:0010674 ! Abnormal curvature of the vertebral column

[Term]
id: HP:0002651
name: Spondyloepimetaphyseal dysplasia
xref: SNOMEDCT_US:254062008
xref: UMLS:C0432211
is_a: HP:0002652 ! Skeletal dysplasia

[Term]
id: HP:0002652
name: Skeletal dysplasia
alt_id: HP:0005685
def: "A general term describing features characterized by abnormal development of bones and connective tissues." [https://orcid.org/0000-0002-0736-9199]
comment: The word skeletal dysplasia is most often used to describe a group of over 380 inherited conditions that involve abnormal development of bones and connective tissues. However, the word can also be used to describe the presence of congenital defects of bones or connective tissues that are found in one or more of the diseases, especially on prenatal ultrasound, i.e., a situation in which it is often not yet possible to make an exact etiological diagnosis. This is the sense of the phrase we use in the HPO. It is, however, preferable to annotate the observed abnormalities.
synonym: "Abnormal skeletal development" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:105985007
xref: SNOMEDCT_US:240190009
xref: UMLS:C0029422
xref: UMLS:C4280567
is_a: HP:0011842 ! Abnormal skeletal morphology

[Term]
id: HP:0002653
name: Bone pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone." []
synonym: "Bone pain" EXACT layperson []
xref: SNOMEDCT_US:12584003
xref: UMLS:C0151825
is_a: HP:0011843 ! Abnormal musculoskeletal physiology
is_a: HP:0012531 ! Pain

[Term]
id: HP:0002654
name: Multiple epiphyseal dysplasia
xref: SNOMEDCT_US:59708000
xref: UMLS:C0026760
is_a: HP:0002652 ! Skeletal dysplasia

[Term]
id: HP:0002655
name: Spondyloepiphyseal dysplasia
alt_id: HP:0002776
alt_id: HP:0005893
def: "A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses)." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C0038015
is_a: HP:0002652 ! Skeletal dysplasia

[Term]
id: HP:0002656
name: Epiphyseal dysplasia
synonym: "Abnormal development of end part of bone" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormal development of the ends of long bones in arms and legs" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:254080004
xref: UMLS:C0392476
xref: UMLS:C4280566
is_a: HP:0002652 ! Skeletal dysplasia
is_a: HP:0005930 ! Abnormal epiphysis morphology

[Term]
id: HP:0002657
name: Spondylometaphyseal dysplasia
xref: SNOMEDCT_US:702350003
xref: UMLS:C0700635
is_a: HP:0002652 ! Skeletal dysplasia

[Term]
id: HP:0002659
name: Increased susceptibility to fractures
alt_id: HP:0002662
alt_id: HP:0002798
alt_id: HP:0005710
alt_id: HP:0005783
alt_id: HP:0005931
def: "An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture." [https://orcid.org/0009-0006-4530-3154]
comment: This is a bundled term that will be made obsolete.
synonym: "Abnormal susceptibility to fractures" EXACT layperson []
synonym: "Bone fragility" EXACT layperson []
synonym: "Frequent broken bones" EXACT layperson []
synonym: "Increased bone fragility" EXACT layperson []
synonym: "Increased susceptibility to fractures" EXACT layperson []
synonym: "Increased tendency to fractures" EXACT layperson []
xref: UMLS:C1390474
is_a: HP:0011843 ! Abnormal musculoskeletal physiology

[Term]
id: HP:0002661
name: Painless fractures due to injury
def: "An increased tendency to fractures following trauma, with fractures occurring without pain." [https://orcid.org/0000-0002-0736-9199]
synonym: "Painless fractures due to injury" EXACT layperson []
xref: UMLS:C1837602
is_a: HP:0002659 ! Increased susceptibility to fractures
is_a: HP:0010832 ! Abnormality of pain sensation

[Term]
id: HP:0002663
name: Delayed epiphyseal ossification
alt_id: HP:0005862
synonym: "Delayed epiphyseal maturation" EXACT []
synonym: "Delayed maturation of end part of long bone" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Delayed opacification of the epiphyses" EXACT []
synonym: "Epiphyseal ossification delay" EXACT []
xref: UMLS:C1865200
xref: UMLS:C4280565
is_a: HP:0005930 ! Abnormal epiphysis morphology
is_a: HP:0010656 ! Abnormal epiphyseal ossification

[Term]
id: HP:0002664
name: Neoplasm
alt_id: HP:0003008
alt_id: HP:0006741
def: "An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor)." [https://orcid.org/0000-0002-0736-9199]
comment: The World Health Organization (WHO) classifies neoplasms into four main groups: (i) benign neoplasm, (ii) in situ neoplasm, (iii) malignant neoplasm, and (iv) neoplasm of uncertain or unknown behavior. A malignant neoplasm is also known as cancer.
synonym: "Abnormal tissue mass" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Cancer" RELATED layperson []
synonym: "Neoplasia" EXACT []
synonym: "Oncological abnormality" EXACT []
synonym: "Oncology" RELATED [https://orcid.org/0000-0002-0736-9199]
synonym: "Tumor" EXACT []
synonym: "Tumour" EXACT []
xref: NCIT:C3262
xref: SNOMEDCT_US:108369006
xref: SNOMEDCT_US:363346000
xref: UMLS:C0006826
xref: UMLS:C0027651
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0002665
name: Lymphoma
def: "A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cancer of lymphatic system" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: NCIT:C7065
xref: SNOMEDCT_US:115244002
xref: SNOMEDCT_US:118600007
xref: SNOMEDCT_US:188676008
xref: SNOMEDCT_US:21964009
xref: UMLS:C0024299
is_a: HP:0004377 ! Hematological neoplasm

[Term]
id: HP:0002666
name: Pheochromocytoma
def: "Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines." [https://orcid.org/0000-0002-0736-9199]
synonym: "Chromaffin tumors" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Chromaffin tumours" EXACT uk_spelling []
xref: NCIT:C3326
xref: SNOMEDCT_US:302835009
xref: SNOMEDCT_US:399343007
xref: SNOMEDCT_US:85583005
xref: UMLS:C0031511
is_a: HP:0100634 ! Neuroendocrine neoplasm

[Term]
id: HP:0002667
name: Nephroblastoma
alt_id: HP:0000115
def: "The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children." [https://orcid.org/0000-0002-0736-9199]
comment: Nephroblastoma is characterized by an abnormal proliferation of the metanephric blastema cells, which are believed to be primitive embryologic cells of the kidney. Clinically, nephroblastoma usually presents as an abdominal mass, and in some cases with abdominal pain, hypertension, hematuria, and fever.
synonym: "Wilms tumor" EXACT []
synonym: "Wilms tumour" EXACT uk_spelling []
xref: NCIT:C40407
xref: SNOMEDCT_US:25081006
xref: SNOMEDCT_US:302849000
xref: UMLS:C0027708
is_a: HP:0011794 ! Embryonal renal neoplasm

[Term]
id: HP:0002668
name: Paraganglioma
alt_id: HP:0002670
alt_id: HP:0003004
def: "A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation." [https://orcid.org/0000-0002-0736-9199]
synonym: "Carotid body tumors" EXACT []
synonym: "Carotid body tumours" EXACT uk_spelling []
synonym: "Paragangliomas" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: NCIT:C3308
xref: SNOMEDCT_US:127027008
xref: SNOMEDCT_US:253029009
xref: SNOMEDCT_US:302833002
xref: SNOMEDCT_US:72787006
xref: SNOMEDCT_US:803009
xref: UMLS:C0030421
is_a: HP:0100634 ! Neuroendocrine neoplasm

[Term]
id: HP:0002669
name: Osteosarcoma
def: "A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bone cell cancer" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Osteogenic sarcoma" EXACT []
xref: NCIT:C9145
xref: SNOMEDCT_US:21708004
xref: SNOMEDCT_US:307576001
xref: UMLS:C0029463
is_a: HP:0010622 ! Neoplasm of the skeletal system
is_a: HP:0100242 ! Sarcoma

[Term]
id: HP:0002671
name: Basal cell carcinoma
def: "The presence of a basal cell carcinoma of the skin." [https://orcid.org/0009-0006-4530-3154]
comment: A basal cell carcinoma is the most common type of skin cancer which rarely metastasizes, but is still considered malignant because it can cause significant destruction and disfigurement by invading surrounding tissues. In 80 percent of all cases, basal cell cancers are found on the head and neck or on other sun-exposed areas of the body. Apart from sporadic basal cell carcinoma, there are hereditary conditions such as the basal cell nevus syndrome where patients develop multiple basal cell carcinomas throughout life.
synonym: "Basal cell carcinomas" EXACT []
synonym: "Basal cell epithelioma" EXACT []
synonym: "Basal cell nevus" EXACT []
synonym: "Basalioma" EXACT []
xref: NCIT:C2921
xref: SNOMEDCT_US:1338007
xref: SNOMEDCT_US:254701007
xref: SNOMEDCT_US:275265005
xref: UMLS:C0007117
xref: UMLS:C1862314
is_a: HP:0008069 ! Neoplasm of the skin

[Term]
id: HP:0002672
name: Gastrointestinal carcinoma
synonym: "GI carcinoma" EXACT abbreviation []
xref: UMLS:C0151544
is_a: HP:0006749 ! Malignant gastrointestinal tract tumors

[Term]
id: HP:0002673
name: Coxa valga
def: "Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults)." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-6670-9157]
synonym: "Coxa valga deformity" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Valgus hip" EXACT []
xref: SNOMEDCT_US:299236004
xref: UMLS:C0239137
xref: UMLS:C3549698
is_a: HP:0003367 ! Abnormal femoral neck morphology

[Term]
id: HP:0002676
name: Cloverleaf skull
alt_id: HP:0004477
alt_id: HP:0005459
def: "Trilobar skull configuration when viewed from the front or behind." [PMID:19125436, PMID:29089832]
comment: A deformity of the skull that resembles a cloverleaf and is characterized by very prominent temporal bones with constriction of the remainder of the cranium. Cloverleaf skull is commonly accompanied by hydrocephalus. See figure 3 in PMID:29089832.
subset: hposlim_core
synonym: "Cloverleaf cranium shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Cloverleaf skull shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Kleeblattschaedel" EXACT []
synonym: "Trilobar cranium shape" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Trilobar skull shape" BROAD [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1860050
xref: UMLS:C4280564
is_a: HP:0002683 ! Abnormal calvaria morphology

[Term]
id: HP:0002677
name: Small foramen magnum
alt_id: HP:0005468
def: "An abnormal narrowing of the foramen magnum." [https://orcid.org/0000-0002-0736-9199]
comment: The foramen magnum is the aperture through which the medulla oblongata enters and exits the skull. Stenosis of the foramen magnum can represent a risk for compression to the spinal cord.
subset: hposlim_core
synonym: "Foramen magnum stenosis" EXACT []
synonym: "Hypoplasia of foramen magnum" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Little foramen magnum" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Narrow foramen magnum" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Stenosis of foramen magnum" NARROW [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:444879009
xref: UMLS:C1535953
xref: UMLS:C1861217
xref: UMLS:C4072838
is_a: HP:0002699 ! Abnormal foramen magnum morphology

[Term]
id: HP:0002678
name: Skull asymmetry
synonym: "Abnormality of skull shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Asymmetry of skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of skull shape" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Skull asymmetry" EXACT layperson []
synonym: "Unequal skull shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Uneven skull shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:248372000
xref: UMLS:C0424690
xref: UMLS:C4280562
xref: UMLS:C4280563
is_a: HP:0002683 ! Abnormal calvaria morphology

[Term]
id: HP:0002679
name: Abnormal sella turcica morphology
def: "Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the hypophysial fossa" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the pituitary fossa" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the sella turcica" EXACT []
synonym: "Anomaly of the hypophysial fossa" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Anomaly of the pituitary fossa" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Anomaly of the sella turcica" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4021754
xref: UMLS:C4072839
is_a: HP:0000929 ! Abnormal skull morphology

[Term]
id: HP:0002680
name: J-shaped sella turcica
def: "A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Hour glass shaped hypophysial fossa" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hour glass shaped pituitary fossa" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hour glass shaped sella turcica" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "J-shaped hypophysial fossa" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "J-shaped pituitary fossa" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "J-shaped sella" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Omega shaped hypophysial fossa" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Omega shaped pituitary fossa" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Omega shaped sella turcica" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1854718
xref: UMLS:C4072841
xref: UMLS:C4072842
is_a: HP:0002681 ! Deformed sella turcica

[Term]
id: HP:0002681
name: Deformed sella turcica
synonym: "Abnormal shape of hypophysial fossa" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormal shape of pituitary fossa" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormal shape of sella turcica" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of hypophysial fossa" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of pituitary fossa" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of hypophysial fossa" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of pituitary fossa" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of sella turcica" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1846437
is_a: HP:0002679 ! Abnormal sella turcica morphology

[Term]
id: HP:0002682
name: Broad skull
def: "Increased width of the skull." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad cranium" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Broad skull" EXACT layperson []
synonym: "Increased width of cranium" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased width of skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Wide cranium" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Wide skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:248374004
xref: UMLS:C0424693
is_a: HP:0002683 ! Abnormal calvaria morphology

[Term]
id: HP:0002683
name: Abnormal calvaria morphology
alt_id: HP:0002648
def: "Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain." [https://orcid.org/0000-0002-0736-9199]
comment: The calvaria, or skull cap, is the upper part of the skull (cranium) and comprises the frontal, occipital and right and left parietal bones. Occasionally, calvaria is misspelled as 'calvarium' in the medical literature.
synonym: "Abnormality of calvarium" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of cranial vault" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of cranium" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the calvaria" EXACT []
synonym: "Abnormality of the shape of calvarium" EXACT []
synonym: "Abnormality of the skull cap" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the skullcap" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025691
xref: UMLS:C4280561
is_a: HP:0000929 ! Abnormal skull morphology

[Term]
id: HP:0002684
name: Thickened calvaria
def: "The presence of an abnormally thick calvaria." [https://orcid.org/0000-0002-0736-9199]
synonym: "Calvarial thickening" EXACT []
synonym: "Calvarium thickened" EXACT []
synonym: "Increased calvarial thickness" EXACT []
synonym: "Increased thickness of calvaria" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased thickness of calvarium" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased thickness of cranial vault" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased thickness of cranium" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased thickness of skull cap" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thick calvaria" EXACT []
synonym: "Thick calvarium" EXACT []
synonym: "Thickened calvarium" EXACT []
synonym: "Thickened cranial vault" EXACT []
synonym: "Thickened cranium" EXACT []
synonym: "Thickened skull cap" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thickening of the calvaria" EXACT []
xref: UMLS:C1858452
xref: UMLS:C4280560
is_a: HP:0002683 ! Abnormal calvaria morphology

[Term]
id: HP:0002686
name: Pregnancy history
def: "Medical history of maternal diseases, exposures, or other relevant findings during the pregnancy of which the index person was the product." []
synonym: "Maternal health problem" RELATED layperson []
synonym: "Prenatal maternal abnormality" EXACT []
xref: UMLS:C4025690
is_a: HP:0032443 ! Past medical history

[Term]
id: HP:0002687
name: Abnormality of frontal sinus
def: "An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone." [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of sinus frontalis" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the forehead sinus" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025689
is_a: HP:0000245 ! Abnormal paranasal sinus morphology

[Term]
id: HP:0002688
name: Absent frontal sinuses
alt_id: HP:0005452
alt_id: HP:0005475
def: "Aplasia of frontal sinus." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Absence of frontal sinuses" EXACT []
synonym: "Absent frontal sinus" EXACT []
synonym: "Aplasia of frontal sinus" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Aplasia sinus frontalis" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing frontal sinus" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1855669
xref: UMLS:C4280559
is_a: HP:0009119 ! Aplasia/Hypoplasia of the frontal sinuses

[Term]
id: HP:0002689
name: Absent paranasal sinuses
def: "Aplasia of the paranasal sinuses." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absence of paranasal sinuses" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Aplasia of paranasal sinuses" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing paranasal sinuses" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing sinuses" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1857131
xref: UMLS:C3804986
xref: UMLS:C4072844
is_a: HP:0005453 ! Absent/hypoplastic paranasal sinuses

[Term]
id: HP:0002690
name: Large sella turcica
alt_id: HP:0005444
def: "An abnormal enlargement of the sella turcica." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Big sella turcica" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Enlarged sella turcica" EXACT []
synonym: "Hyperplasia of hypophysial fossa" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Hyperplasia of pituitary fossa" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Hyperplasia of sella turcica" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Large hypophysial fossa" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Large pituitary fossa" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Prominent sella turcica" EXACT []
xref: UMLS:C1843677
xref: UMLS:C4072845
xref: UMLS:C4072846
is_a: HP:0002679 ! Abnormal sella turcica morphology

[Term]
id: HP:0002691
name: Platybasia
def: "A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base." [https://orcid.org/0000-0002-0736-9199]
comment: Platybasia is malformation of the base of the skull due to softening of skull bones or a developmental anomaly, with bulging upwards of the floor of the posterior cranial fossa, upward displacement of the upper cervical vertebrae, and bony impingement on the brainstem. It results in abnormal obtuseness of the basal angle that can be demonstrated radiographically. If platybasia is associated with basilar invagination, compression of the brainstem and upper cervical cord can result. Basal Angle formed by: line joining the nasion with the center of the pituitary fossa line joining the anterior border of the foramen magnum with the center of the pituitary fossa normal: 125 degrees-143 degrees platybasia: > 143 degrees basilar kyphosis: < 125 degrees. {xref="https://orcid.org/0000-0001-5889-4463"}
subset: hposlim_core
synonym: "Flattening of the skull base" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased basal angle of skull base" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Obtuse basal angle of skull base" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:86587003
xref: UMLS:C0032209
is_a: HP:0002683 ! Abnormal calvaria morphology

[Term]
id: HP:0002692
name: Hypoplastic facial bones
synonym: "Decreased size of facial bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of facial skeleton" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Flattening of facial bones" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Flattening of facial skeleton" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplasia of facial skeleton" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypotrophic facial bones" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypotrophic facial skeleton" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Small facial bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Small facial skeleton" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of facial bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of facial skeleton" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1846438
xref: UMLS:C4229090
xref: UMLS:C4280268
xref: UMLS:C4280557
xref: UMLS:C4280558
is_a: HP:0034261 ! Aplasia/Hypoplasia of facial bones

[Term]
id: HP:0002693
name: Abnormal skull base morphology
def: "An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of cranial base" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the skull base" EXACT layperson []
xref: UMLS:C4025688
is_a: HP:0000929 ! Abnormal skull morphology

[Term]
id: HP:0002694
name: Sclerosis of skull base
alt_id: HP:0005757
def: "Increased bone density of the skull base without significant changes in bony contour." [https://orcid.org/0000-0002-0736-9199]
synonym: "Dense bone of skull base" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "HyperCalcification of skull base" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "HyperMineralization of skull base" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Hyperossification of skull base" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hyperostosis of skull base" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Marked sclerosis of skull base" EXACT []
synonym: "Sclerosis of cranial base" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Sclerosis of the skull base" EXACT []
synonym: "Sclerotic skull base" EXACT []
xref: UMLS:C1851714
xref: UMLS:C4072847
xref: UMLS:C4072848
is_a: HP:0002693 ! Abnormal skull base morphology
is_a: HP:0011001 ! Increased bone mineral density

[Term]
id: HP:0002695
name: obsolete Symmetrical, oval parietal bone defects
is_obsolete: true
replaced_by: HP:0002697

[Term]
id: HP:0002696
name: Abnormal parietal bone morphology
def: "Any abnormality of the parietal bone of the skull." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the parietal bone" EXACT []
synonym: "Abnormality of the parietal bone of skull" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4021834
is_a: HP:0002683 ! Abnormal calvaria morphology

[Term]
id: HP:0002697
name: Parietal foramina
alt_id: HP:0002695
def: "The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide." [https://orcid.org/0000-0002-0736-9199]
comment: Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the two bones (parietal bones) that form the top and sides of the skull. This condition is due to problems with bone formation (ossification) within the parietal bones. The openings are symmetrical and circular in shape, with variable size ranging from a few millimeters to several centimeters wide. Parietal foramina are a normal feature of fetal development, but they usually close by the fifth month of pregnancy.
synonym: "Holes in parietal bones" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Openings in parietal bones" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Persistent foramina of the parietal bones" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Symmetrical, oval defects in the parietal bone" EXACT []
synonym: "Symmetrical, oval parietal bone defects" EXACT []
xref: SNOMEDCT_US:11240000
xref: SNOMEDCT_US:29307005
xref: UMLS:C0222706
xref: UMLS:C4280556
is_a: HP:0002696 ! Abnormal parietal bone morphology

[Term]
id: HP:0002699
name: Abnormal foramen magnum morphology
def: "Any abnormality of the foramen magnum." [https://orcid.org/0000-0002-0736-9199]
comment: The foramen magnum is the aperture through which the medulla oblongata enters and exits the skull.
subset: hposlim_core
synonym: "Abnormality of the foramen magnum" EXACT []
xref: UMLS:C4025687
is_a: HP:0000929 ! Abnormal skull morphology

[Term]
id: HP:0002700
name: Large foramen magnum
def: "An abnormal increase in the size of the foramen magnum." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Big foramen magnum" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Dilation of foramen magnum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Enlarged foramen magnum" EXACT []
synonym: "Increased circumference of foramen magnum" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased diameter of foramen magnum" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Wide foramen magnum" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1844508
xref: UMLS:C4073291
xref: UMLS:C4280554
xref: UMLS:C4280555
is_a: HP:0002699 ! Abnormal foramen magnum morphology

[Term]
id: HP:0002703
name: Abnormality of skull ossification
def: "An abnormality of the process of ossification of the skull." [https://orcid.org/0000-0002-0736-9199]
comment: The bones of the skull derive directly from mesenchyme cells by intramembranous ossification.
synonym: "Abnormality of bone calcification of calvarium" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of bone calcification of cranium" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of bone calcification of skull" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of bone formation of calvarium" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of bone formation of cranium" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of bone mineralization of calvarium" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of bone mineralization of cranium" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of bone mineralization of skull" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of ossification of calvarium" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of ossification of cranium" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of skull bone formation" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025686
xref: UMLS:C4280550
xref: UMLS:C4280551
xref: UMLS:C4280552
xref: UMLS:C4280553
is_a: HP:0000929 ! Abnormal skull morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-28T11:53:00Z

[Term]
id: HP:0002705
name: High, narrow palate
def: "The presence of a high and narrow palate." [https://orcid.org/0000-0002-0736-9199]
synonym: "Gothic palate" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "High narrow palate" EXACT []
synonym: "High vaulted palate" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "High, narrow palate" EXACT layperson []
synonym: "Narrow and high arched palate" EXACT []
synonym: "Narrow, high-arched palate" EXACT []
synonym: "Narrow, high-arched roof of mouth" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Narrow, highly arched palate" EXACT []
synonym: "Narrow, highly arched roof of mouth" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1837404
is_a: HP:0000189 ! Narrow palate
is_a: HP:0000218 ! High palate

[Term]
id: HP:0002707
name: Palate telangiectasia
alt_id: HP:0000229
def: "The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate." [https://orcid.org/0000-0002-0736-9199]
synonym: "Palatal angioectasia" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Palatal spider veins" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Palatal telangiectasia" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Palate telangiectases" EXACT []
synonym: "Palate teleangiectases" EXACT []
synonym: "Spider veins of the roof of the mouth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Telangiectasia of the roof of the mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1857699
xref: UMLS:C4280267
is_a: HP:0000174 ! Abnormal palate morphology
is_a: HP:0000228 ! Oral cavity telangiectasia

[Term]
id: HP:0002708
name: Prominent median palatal raphe
def: "Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate." [https://orcid.org/0000-0002-0736-9199]
synonym: "Prominent central palatal ridge" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Prominent central ridge on roof of the mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Prominent medial palatal suture" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1845108
is_a: HP:0000174 ! Abnormal palate morphology

[Term]
id: HP:0002710
name: Commissural lip pit
def: "A depression located at an oral commissure." [https://orcid.org/0009-0006-4530-3154, PMID:19125428]
comment: Commissural lip pits have no relationship to other forms of lip pits which may be located on the vermilion of the upper or lower lip, usually paramedian. Rather, commissural pits are located at the corners of the oral aperture.
subset: hposlim_core
synonym: "Commissural labial pits" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Commissural pit" EXACT []
synonym: "Lip pits at corners of the mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Pits at the corners of the lips" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C0399605
is_a: HP:0100267 ! Lip pit

[Term]
id: HP:0002711
name: Exaggerated median tongue furrow
def: "Increased depth of the median tongue furrow." [https://orcid.org/0000-0002-0736-9199]
synonym: "Deep central lingual furrow" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Deep central lingual groove" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deep central tongue furrow" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Deep central tongue groove" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deep median lingual furrow" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Deep median lingual groove" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Deep median tongue furrow" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Deep median tongue groove" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Exaggerated median lingual furrow" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1845109
is_a: HP:0000221 ! Furrowed tongue

[Term]
id: HP:0002714
name: Downturned corners of mouth
alt_id: HP:0000192
def: "A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure." [https://orcid.org/0000-0002-0736-9199, PMID:19125428]
comment: This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the lower lip is enlarged. Previous terms for downturned corners of mouth included Carp mouth andFish mouth which are no longer recommended (pejorative terms).
subset: hposlim_core
synonym: "Downturned corners of mouth" EXACT layperson []
synonym: "Downturned corners of the mouth" EXACT layperson []
synonym: "Downturned mouth" EXACT layperson []
synonym: "Downturned oral commisures" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1866195
is_a: HP:0011338 ! Abnormality of mouth shape

[Term]
id: HP:0002715
name: Abnormality of the immune system
alt_id: HP:0003257
alt_id: HP:0003346
alt_id: HP:0010986
def: "An abnormality of the immune system." [https://orcid.org/0000-0002-0736-9199]
comment: The immune system is composed of organs and interdependent cell types that collectively protect the body from infections and from the growth of tumor cells. The organs of the immune system comprise the bone marrow, the spleen, the thymus,the lymph nodes, and the cell types comprise B cells, T cells, natural killer cells, granulocytes,dendritic cells, and macrophages.
synonym: "Abnormality of the immune system" EXACT layperson []
synonym: "Immunological abnormality" EXACT layperson []
xref: UMLS:C4021753
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0002716
name: Lymphadenopathy
alt_id: HP:0002735
def: "Enlargement (swelling) of a lymph node." [https://orcid.org/0000-0002-0736-9199]
synonym: "Lymph node hyperplasia" EXACT []
synonym: "Swollen lymph nodes" EXACT layperson []
xref: SNOMEDCT_US:30746006
xref: UMLS:C0497156
is_a: HP:0002733 ! Abnormal lymph node morphology

[Term]
id: HP:0002717
name: Adrenal overactivity
comment: Cortisol is the main member of the glucocorticoid family in humans and together with aldosterone is one of the main secretions of the adrenal cortex.
xref: UMLS:C4025685
is_a: HP:0011733 ! Abnormality of adrenal physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-25T10:41:00Z

[Term]
id: HP:0002718
name: Recurrent bacterial infections
alt_id: HP:0005355
alt_id: HP:0005361
alt_id: HP:0005367
alt_id: HP:0005391
alt_id: HP:0005393
alt_id: HP:0005410
def: "Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bacterial infections, recurrent" EXACT layperson []
synonym: "Frequent bacterial infections" EXACT layperson []
synonym: "Frequent pyogenic infections" EXACT []
synonym: "Increased susceptibility to bacterial infections" EXACT layperson []
synonym: "Prone to bacterial infection" RELATED layperson []
synonym: "Recurrent bacterial infections" EXACT layperson []
synonym: "Recurrent major bacterial infections" EXACT layperson []
synonym: "Recurrent pyogenic infections" EXACT []
synonym: "Susceptibility to pyogenic infection" EXACT []
xref: SNOMEDCT_US:428875002
xref: UMLS:C1844383
xref: UMLS:C2748958
xref: UMLS:C4020846
is_a: HP:0002719 ! Recurrent infections

[Term]
id: HP:0002719
name: Recurrent infections
alt_id: HP:0002957
alt_id: HP:0002964
alt_id: HP:0005405
def: "Increased susceptibility to infections." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-5316-1399]
synonym: "Frequent infections" EXACT layperson []
synonym: "Frequent, severe infections" EXACT layperson []
synonym: "Increased frequency of infection" EXACT layperson []
synonym: "infections, recurrent" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Predisposition to infections" EXACT layperson []
synonym: "Recurrent infections" EXACT layperson []
synonym: "Susceptibility to infection" EXACT layperson []
xref: UMLS:C0239998
is_a: HP:0032101 ! Unusual infection

[Term]
id: HP:0002720
name: Decreased circulating IgA concentration
alt_id: HP:0005358
alt_id: HP:0005399
alt_id: HP:0005431
alt_id: HP:0008350
def: "Decreased levels of immunoglobulin A (IgA)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased circulating IgA level" EXACT []
synonym: "Decreased IgA" EXACT []
synonym: "Decreased immunoglobulin A" EXACT []
synonym: "Gamma-A globulin deficiency" EXACT []
synonym: "IgA deficiency" EXACT []
synonym: "Low levels of immunoglobulin A" EXACT []
synonym: "Reduced IgA levels" EXACT []
xref: SNOMEDCT_US:29260007
xref: UMLS:C0162538
is_a: HP:0004313 ! Decreased circulating immunoglobulin concentration
is_a: HP:0410240 ! Abnormal circulating IgA concentration

[Term]
id: HP:0002721
name: Immunodeficiency
alt_id: HP:0005362
alt_id: HP:0005371
def: "Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance." [PMID:20042227]
synonym: "Decreased immune function" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Immune deficiency" EXACT []
xref: SNOMEDCT_US:234532001
xref: UMLS:C0021051
is_a: HP:0010978 ! Abnormality of immune system physiology

[Term]
id: HP:0002722
name: Recurrent abscess formation
def: "An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025684
is_a: HP:0002719 ! Recurrent infections

[Term]
id: HP:0002723
name: Absence of bactericidal oxidative respiratory burst in phagocytes
def: "An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity." [GO:0045728]
xref: UMLS:C1844385
is_a: HP:0010977 ! Abnormal phagocytosis

[Term]
id: HP:0002724
name: Recurrent Aspergillus infections
def: "An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections." [https://orcid.org/0000-0002-0736-9199]
synonym: "Aspergillus infections, recurrent" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C4021752
is_a: HP:0002841 ! Recurrent fungal infections

[Term]
id: HP:0002725
name: Systemic lupus erythematosus
def: "A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes." [https://orcid.org/0000-0002-0736-9199]
comment: This is a bundled term that describes a disease rather than a phenotypic feature, but is left for convenience for annotations of lupus conceived of as a feature of another disease.
synonym: "SLE" EXACT abbreviation []
xref: SNOMEDCT_US:55464009
xref: UMLS:C0024141
is_a: HP:0002960 ! Autoimmunity

[Term]
id: HP:0002726
name: Recurrent Staphylococcus aureus infections
def: "Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection." [https://orcid.org/0000-0002-0736-9199]
synonym: "Staphylococcus aureus infections, recurrent" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C2673462
is_a: HP:0007499 ! Recurrent staphylococcal infections

[Term]
id: HP:0002728
name: Chronic mucocutaneous candidiasis
alt_id: HP:0005392
def: "Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails." [https://orcid.org/0000-0002-0736-9199, PMID:20859203]
comment: The most commonly involved Candida species is Candida albicans. Chronic mucocutaneous candidiasis (CMC) is usually confined to the cutaneous surface without systemic dissemination. CMC does not represent a specific disease, but rather a phenotypic feature of several immunologic, endocrinologic, and autoimmune disorders.
synonym: "Chronic candidiasis of mucosa, skin and nails" EXACT []
synonym: "Mucocutaneous candidiasis" EXACT []
xref: SNOMEDCT_US:234568006
xref: UMLS:C0006845
is_a: HP:0011370 ! Recurrent cutaneous fungal infections

[Term]
id: HP:0002729
name: Follicular hyperplasia
def: "Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers." [https://orcid.org/0000-0002-0736-9199, PMID:23281438, PMID:27929264]
comment: Lymphadenopathy can be defined as enlargement of lymph nodes. It is just a sign accompanying a great variety of entities with multiple etiologies: acute vs. chronic, benign vs. malignant. One of the most commonly seen histological pictures is lymphadenopathy owing to hyperplasia of follicular (germinal centers) but this one is by far not the only one.
xref: UMLS:C4014733
is_a: HP:0002716 ! Lymphadenopathy

[Term]
id: HP:0002730
name: Chronic noninfectious lymphadenopathy
def: "A chronic form of lymphadenopathy that is not related to infection." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1858970
is_a: HP:0002716 ! Lymphadenopathy

[Term]
id: HP:0002731
name: Decreased T cell apoptosis
def: "Abnormal decrease of apoptosis by peripheral blood T cells in an in vitro culture, compared to a healthy control sample. May be either spontaneous, induced by UV, X-ray, FasL or other agens. Commonly measured by surface expression of phosphatidyl serine labelled by Annexin V, but other methods such as staning of cleaved Caspases may be used by different laboratories." [https://orcid.org/0000-0002-0736-9199]
comment: Apoptosis, a form of programmed cell death, is an important mechanism that prevents uncontrolled proliferation of activated lymphocytes and regulates lymphocyte homeostasis.
synonym: "Defective lymphocyte apoptosis" EXACT []
xref: UMLS:C1858969
is_a: HP:0030886 ! Abnormal T cell apoptosis

[Term]
id: HP:0002732
name: Lymph node hypoplasia
def: "Underdevelopment of the lymph nodes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small lymph nodes" RELATED layperson []
xref: UMLS:C1865377
xref: UMLS:C4025683
is_a: HP:0002733 ! Abnormal lymph node morphology

[Term]
id: HP:0002733
name: Abnormal lymph node morphology
alt_id: HP:0008149
def: "A structural lymph node abnormality." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal lymph node histology" EXACT layperson []
synonym: "Abnormality of the lymph nodes" EXACT layperson []
xref: UMLS:C0149727
is_a: HP:0100763 ! Abnormality of the lymphatic system

[Term]
id: HP:0002737
name: Thick skull base
synonym: "Increased thickness of bone of skull base" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased thickness of skull base" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thick skull base" EXACT layperson []
xref: UMLS:C1839507
is_a: HP:0002693 ! Abnormal skull base morphology

[Term]
id: HP:0002738
name: Hypoplastic frontal sinuses
def: "Underdevelopment of frontal sinus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased pneumatization of frontal sinus" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased volume of frontal sinuses" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypotrophic frontal sinus" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Small frontal sinuses" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdeveloped frontal sinuses" EXACT []
xref: UMLS:C1859682
xref: UMLS:C4280548
xref: UMLS:C4280549
is_a: HP:0009119 ! Aplasia/Hypoplasia of the frontal sinuses

[Term]
id: HP:0002740
name: Recurrent E. coli infections
def: "Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent." [https://orcid.org/0000-0002-0736-9199]
synonym: "E coli infections" EXACT []
synonym: "E coli infections, recurrent" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:71057007
xref: UMLS:C0014836
is_a: HP:0005420 ! Recurrent gram-negative bacterial infections

[Term]
id: HP:0002741
name: Recurrent Serratia marcescens infections
def: "Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025682
is_a: HP:0005420 ! Recurrent gram-negative bacterial infections

[Term]
id: HP:0002742
name: Recurrent Klebsiella infections
def: "Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection." [https://orcid.org/0000-0002-0736-9199]
synonym: "Klebsiella infections, recurrent" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C4021751
is_a: HP:0005420 ! Recurrent gram-negative bacterial infections

[Term]
id: HP:0002743
name: Recurrent enteroviral infections
def: "Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025681
is_a: HP:0004429 ! Recurrent viral infections

[Term]
id: HP:0002744
name: obsolete Bilateral cleft lip and palate
is_obsolete: true
consider: HP:0100337

[Term]
id: HP:0002745
name: Oral leukoplakia
def: "A thickened white patch on the oral mucosa that cannot be rubbed off." [https://orcid.org/0000-0002-0736-9199, PMID:17944749]
comment: The definition of oral leukoplakia states that the lesion be characterized clinically or histologically as any other condition, and is not associated with any physical or chemical causative agent except tobacco. Leukoplakia is a precancerous lesion, i.e. a morphologically altered tissue in which cancer is more likely to occur than in its apparently normal counterpart.
subset: hposlim_core
synonym: "leukokeratosis" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Oral idiopathic keratosis" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Oral idiopathic leukoplakia" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Oral idiopathic white patch" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Oral leucoplakia" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Oral leukokeratosis" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Oral leukoplasia" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Oral white patch" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Oral white plaque" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:414603003
xref: SNOMEDCT_US:9187004
xref: UMLS:C0023532
xref: UMLS:C1704317
is_a: HP:0025125 ! White lesion of the oral mucosa

[Term]
id: HP:0002747
name: Respiratory insufficiency due to muscle weakness
alt_id: HP:0004882
alt_id: HP:0004888
synonym: "Decreased lung function due to weak breathing muscles" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Decreased respiratory function due to muscle weakness" EXACT []
synonym: "Respiratory distress due to muscle weakness" EXACT []
synonym: "Respiratory failure due to muscle weakness" EXACT []
synonym: "Respiratory muscle weakness" EXACT []
xref: UMLS:C3806467
is_a: HP:0002093 ! Respiratory insufficiency
is_a: HP:0004347 ! Weakness of muscles of respiration

[Term]
id: HP:0002748
name: Rickets
def: "Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets." [GARD:0005700]
synonym: "Weak and soft bones" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:41345002
xref: UMLS:C0035579
is_a: HP:0004349 ! Reduced bone mineral density

[Term]
id: HP:0002749
name: Osteomalacia
def: "Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets." [https://orcid.org/0000-0002-0736-9199]
synonym: "Softening of the bones" EXACT layperson []
xref: SNOMEDCT_US:4598005
xref: UMLS:C0029442
is_a: HP:0004349 ! Reduced bone mineral density

[Term]
id: HP:0002750
name: Delayed skeletal maturation
alt_id: HP:0000928
alt_id: HP:0002806
def: "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [https://orcid.org/0000-0002-0736-9199]
synonym: "Delayed bone age" EXACT []
synonym: "Delayed bone age before puberty" EXACT []
synonym: "Delayed bone maturation" EXACT layperson []
synonym: "Delayed skeletal development" EXACT layperson []
synonym: "Retarded bone age" EXACT []
synonym: "Retarded ossification" RELATED []
synonym: "Skeletal maturation retardation" EXACT []
xref: SNOMEDCT_US:123983008
xref: UMLS:C0541764
is_a: HP:0000927 ! Abnormality of skeletal maturation

[Term]
id: HP:0002751
name: Kyphoscoliosis
alt_id: HP:0003412
alt_id: HP:0003424
alt_id: HP:0004593
alt_id: HP:0005728
def: "An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:405773007
xref: UMLS:C0575158
is_a: HP:0002650 ! Scoliosis
is_a: HP:0002808 ! Kyphosis

[Term]
id: HP:0002752
name: Sparse bone trabeculae
xref: UMLS:C1833324
is_a: HP:0100671 ! Abnormal trabecular bone morphology

[Term]
id: HP:0002753
name: Thin bony cortex
alt_id: HP:0003104
def: "Abnormal thinning of the cortical region of bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Thin cortices" EXACT []
xref: UMLS:C1833325
is_a: HP:0003103 ! Abnormal cortical bone morphology

[Term]
id: HP:0002754
name: Osteomyelitis
alt_id: HP:0002755
alt_id: HP:0005901
def: "Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism." [https://orcid.org/0000-0002-0736-9199, PMID:15276398]
comment: Osteomyelitis can be acute or chronic and can be caused by a variety of microbial agents.
synonym: "Bone infection" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:111253001
xref: SNOMEDCT_US:60168000
xref: UMLS:C0029443
xref: UMLS:C2242472
is_a: HP:0011843 ! Abnormal musculoskeletal physiology
is_a: HP:0012649 ! Increased inflammatory response

[Term]
id: HP:0002755
name: obsolete Osteomyelitis due to immunodeficiency
is_obsolete: true
replaced_by: HP:0002754

[Term]
id: HP:0002756
name: Pathologic fracture
alt_id: HP:0005633
def: "A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Pathologic fractures" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Spontaneous fracture" EXACT layperson []
synonym: "Spontaneous fractures" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:22640007
xref: SNOMEDCT_US:268029009
xref: UMLS:C0016663
is_a: HP:0002659 ! Increased susceptibility to fractures

[Term]
id: HP:0002757
name: Recurrent fractures
alt_id: HP:0002660
alt_id: HP:0002767
alt_id: HP:0002809
def: "The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture)." [https://orcid.org/0000-0002-0736-9199]
comment: This term will be made obsolete. The annotations need to be checked.
synonym: "Frequent fractures" EXACT []
synonym: "Increased fracture rate" EXACT layperson []
synonym: "Increased fractures" EXACT layperson []
synonym: "Multiple fractures" EXACT layperson []
synonym: "Multiple spontaneous fractures" EXACT layperson []
synonym: "Recurrent fractures" EXACT layperson []
synonym: "Varying degree of multiple fractures" EXACT layperson []
xref: SNOMEDCT_US:134291007
xref: SNOMEDCT_US:5468008
xref: UMLS:C0016655
xref: UMLS:C1833752
xref: UMLS:C3805574
xref: UMLS:C3806283
is_a: HP:0002659 ! Increased susceptibility to fractures

[Term]
id: HP:0002758
name: Osteoarthritis
alt_id: HP:0001379
alt_id: HP:0002824
alt_id: HP:0005762
def: "Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity." []
synonym: "Degenerative joint disease" EXACT layperson []
xref: SNOMEDCT_US:225655006
xref: SNOMEDCT_US:396275006
xref: UMLS:C0029408
is_a: HP:0001369 ! Arthritis

[Term]
id: HP:0002761
name: Generalized joint hypermobility
def: "Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. In individuals with Joint hypermobility at multiple sites (usually five or more), the term generalized joint hypermobility is preferred." [https://orcid.org/0000-0002-0736-9199, PMID:28145606]
synonym: "Generalised joint laxity" EXACT uk_spelling []
synonym: "Generalized joint laxity" EXACT []
synonym: "Hypermobility of all joints" EXACT layperson []
synonym: "Joint laxity, generalised" RELATED uk_spelling []
synonym: "Joint laxity, generalized" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1836308
is_a: HP:0001382 ! Joint hypermobility

[Term]
id: HP:0002762
name: Multiple exostoses
def: "Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:254044004
xref: UMLS:C0015306
is_a: HP:0100777 ! Exostoses

[Term]
id: HP:0002763
name: Abnormal cartilage morphology
alt_id: HP:0410007
def: "Any morphological abnormality of cartilage." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal shape of cartilage" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of cartilage morphology" EXACT []
xref: UMLS:C4025680
is_a: HP:0011842 ! Abnormal skeletal morphology

[Term]
id: HP:0002764
name: Stippled chondral calcification
def: "Punctate (speckled, dot-like) deposition of calcium of calcium salts in the articular cartilage (cartilage located in joints)." [https://orcid.org/0000-0002-0736-9199, PMID:29246349]
comment: See the figure in PMID:29246349
xref: UMLS:C4025679
is_a: HP:0002832 ! Calcific stippling
is_a: HP:0100593 ! Calcification of cartilage

[Term]
id: HP:0002766
name: Relatively short spine
synonym: "Relatively short spine" EXACT layperson []
xref: UMLS:C3277114
is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column

[Term]
id: HP:0002773
name: obsolete Small vertebral bodies
is_obsolete: true
replaced_by: HP:0008479

[Term]
id: HP:0002777
name: Tracheal stenosis
synonym: "Narrowing of windpipe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:11296007
xref: UMLS:C0040583
is_a: HP:0002778 ! Abnormal tracheal morphology

[Term]
id: HP:0002778
name: Abnormal tracheal morphology
def: "A structural anomaly of the trachea." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal trachea morphology" EXACT []
synonym: "Abnormality of the trachea" EXACT []
synonym: "Tracheal disease" RELATED []
xref: SNOMEDCT_US:47125007
xref: UMLS:C0040580
xref: UMLS:C4025678
is_a: HP:0005607 ! Abnormal tracheobronchial morphology

[Term]
id: HP:0002779
name: Tracheomalacia
synonym: "Floppy windpipe" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:95434006
xref: UMLS:C0948187
is_a: HP:0002778 ! Abnormal tracheal morphology

[Term]
id: HP:0002780
name: Bronchomalacia
def: "Weakness or softness of the cartilage in the walls of the bronchial tubes." [PMID:15764786]
xref: SNOMEDCT_US:54203008
xref: UMLS:C0264353
is_a: HP:0025426 ! Abnormal bronchus morphology

[Term]
id: HP:0002781
name: Upper airway obstruction
def: "Increased resistance to the passage of air in the upper airway." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Upper airway obstruction" EXACT layperson []
xref: UMLS:C0740852
is_a: HP:0006536 ! Airway obstruction

[Term]
id: HP:0002783
name: Recurrent lower respiratory tract infections
alt_id: HP:0004884
alt_id: HP:0005955
def: "An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections." [https://orcid.org/0000-0002-0736-9199]
synonym: "Chronic lung infections" EXACT []
synonym: "Lower respiratory tract infections" EXACT []
synonym: "Recurrent chest infections" EXACT layperson []
xref: SNOMEDCT_US:448739000
xref: SNOMEDCT_US:50417007
xref: UMLS:C0149725
xref: UMLS:C0585953
xref: UMLS:C3163798
is_a: HP:0002205 ! Recurrent respiratory infections

[Term]
id: HP:0002786
name: Tracheobronchomalacia
def: "Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:233788001
xref: UMLS:C0340231
is_a: HP:0002779 ! Tracheomalacia
is_a: HP:0002780 ! Bronchomalacia

[Term]
id: HP:0002787
name: Tracheal calcification
def: "Calcification (abnormal deposits of calcium) in the tracheal tissues." [https://orcid.org/0000-0002-0736-9199, PMID:18663210]
synonym: "Calcification of the trachea" EXACT []
synonym: "Tracheal calcifications" EXACT plural_form []
synonym: "Tracheal ectopic calcification" EXACT []
xref: SNOMEDCT_US:81089005
xref: UMLS:C0264324
is_a: HP:0002778 ! Abnormal tracheal morphology
is_a: HP:0010766 ! Ectopic calcification

[Term]
id: HP:0002788
name: Recurrent upper respiratory tract infections
alt_id: HP:0001740
alt_id: HP:0002784
def: "An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Frequent upper respiratory infections" EXACT []
synonym: "Frequent upper respiratory tract infections" EXACT []
synonym: "Recurrent colds" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Recurrent upper respiratory and lower respiratory infections" EXACT []
synonym: "Recurrent upper respiratory infection" EXACT []
synonym: "Recurrent upper respiratory infections" EXACT []
synonym: "Recurrent URI" EXACT abbreviation []
synonym: "Upper respiratory tract infections" EXACT []
synonym: "Upper respiratory tract infections, recurrent" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:195708003
xref: UMLS:C0581381
is_a: HP:0001739 ! Abnormal nasopharynx morphology
is_a: HP:0002205 ! Recurrent respiratory infections

[Term]
id: HP:0002789
name: Tachypnea
alt_id: HP:0002874
alt_id: HP:0004346
def: "Very rapid breathing." [https://orcid.org/0000-0002-0736-9199]
comment: In adults, a beathing rate of between 12-20 breaths per minute is normal and tachypnea is present with a ventilatory rate greater than 20 breaths per minute.
synonym: "Increased respiratory rate or depth of breathing" EXACT layperson []
synonym: "Polypnea" EXACT []
xref: SNOMEDCT_US:271823003
xref: UMLS:C0231835
is_a: HP:0002793 ! Abnormal pattern of respiration

[Term]
id: HP:0002790
name: Neonatal breathing dysregulation
synonym: "Impaired breathing in newborn" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C3806216
is_a: HP:0005957 ! Breathing dysregulation

[Term]
id: HP:0002791
name: Hypoventilation
alt_id: HP:0004892
def: "A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide)." [https://orcid.org/0000-0002-0736-9199]
comment: Not to be confused with Hypopnea, where the partial pressure of carbon dioxide can remain normal.
synonym: "Alveolar hypoventilation" EXACT []
synonym: "Respiratory depression" RELATED []
synonym: "Slow breathing" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Under breathing" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:15993004
xref: SNOMEDCT_US:31515003
xref: SNOMEDCT_US:80954004
xref: UMLS:C0235063
xref: UMLS:C3203358
is_a: HP:0002793 ! Abnormal pattern of respiration

[Term]
id: HP:0002792
name: Reduced vital capacity
def: "An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased vital capacity" EXACT []
xref: SNOMEDCT_US:274715008
xref: SNOMEDCT_US:607007
xref: UMLS:C0476408
xref: UMLS:C0520831
is_a: HP:0030878 ! Abnormality on pulmonary function testing

[Term]
id: HP:0002793
name: Abnormal pattern of respiration
def: "An anomaly of the rhythm or depth of breathing." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal pattern of respiration" EXACT layperson []
synonym: "Abnormal respiratory patterns" EXACT layperson []
synonym: "Unusual breathing patterns" EXACT layperson []
xref: UMLS:C1837388
is_a: HP:0002795 ! Abnormal respiratory system physiology

[Term]
id: HP:0002795
name: Abnormal respiratory system physiology
alt_id: HP:0005952
def: "Abnormal function of the respiratory system." []
synonym: "Abnormal respiration" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Functional respiratory abnormality" EXACT layperson []
synonym: "Impaired pulmonary function" RELATED []
synonym: "Respiratory problem" RELATED layperson []
xref: Fyler:4200
xref: UMLS:C4025677
is_a: HP:0002086 ! Abnormality of the respiratory system

[Term]
id: HP:0002797
name: Osteolysis
alt_id: HP:0010737
def: "Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium." [https://orcid.org/0000-0002-0736-9199]
comment: Osteolysis may be a feature of neoplastic, infectious, metabolis, vascular, and joint disorders and is also a component of many hereditary diseases. Osteolysis may be highly localized or more diffuse. This term is meant to group the more specific osteolysis terms.
synonym: "Breakdown of bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Increased bone resorption" EXACT [https://orcid.org/0009-0006-4530-3154]
synonym: "Osteolytic defects of bones" EXACT []
xref: SNOMEDCT_US:203522001
xref: SNOMEDCT_US:30425001
xref: UMLS:C0221204
is_a: HP:0003330 ! Abnormal bone structure

[Term]
id: HP:0002803
name: Congenital contracture
def: "One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth." [https://orcid.org/0000-0002-0736-9199]
synonym: "congenital contractures" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Congenital joint contractures" EXACT []
xref: UMLS:C0332878
is_a: HP:0001371 ! Flexion contracture

[Term]
id: HP:0002804
name: Arthrogryposis multiplex congenita
alt_id: HP:0001389
alt_id: HP:0001390
alt_id: HP:0002759
alt_id: HP:0005188
alt_id: HP:0005663
alt_id: HP:0005809
alt_id: HP:0005859
def: "Multiple congenital contractures in different body areas." [https://orcid.org/0000-0002-0736-9199, PMID:23050160]
comment: Arthrogryposis multiplex congenita (AMC) consists of several conditions of different etiology and mixed clinical features, including multiple congenital contractures in multiple body areas. Here, we use the term to refer solely to the multiple congenital contractures. It is related to fetal akinesia owing to fetal neurogenic, muscle, or connective tissue disorders or occasionally to maternal conditions. AMC can be associated with polyhydramnios, pulmonary hypoplasia, micrognathia, ocular hypertelorism, and short umbilical cord. AMC is a feature of a heterogeneous group of disorders, some of which have the phrase 'arthrogryposis multiplex congenita' as a part of their name (for instance, Arthrogryposis multiplex congenita, distal type 1 or AMCD1). This term refers to the finding of multiple joint contractures found throughout the body at birth rather than to the disease entities of which this is a clinical feature.
synonym: "Arthrogryposis" EXACT []
synonym: "Arthrogryposis multiplex" EXACT []
synonym: "Arthrogryposis, congenital" EXACT []
synonym: "Multiple congenital contractures" EXACT []
xref: SNOMEDCT_US:111246005
xref: SNOMEDCT_US:77016009
xref: UMLS:C0003886
is_a: HP:0002803 ! Congenital contracture

[Term]
id: HP:0002805
name: Accelerated bone age after puberty
synonym: "Accelerated bone age after puberty" EXACT layperson []
xref: UMLS:C1860825
is_a: HP:0005616 ! Accelerated skeletal maturation

[Term]
id: HP:0002808
name: Kyphosis
alt_id: HP:0002769
alt_id: HP:0003314
def: "Exaggerated anterior convexity of the thoracic vertebral column." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Gibbus deformity" EXACT []
synonym: "Hunched back" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Hyperkyphosis" EXACT []
synonym: "Round back" EXACT layperson []
xref: SNOMEDCT_US:414564002
xref: UMLS:C0022821
xref: UMLS:C1845112
is_a: HP:0010674 ! Abnormal curvature of the vertebral column

[Term]
id: HP:0002810
name: Dumbbell-shaped metaphyses
alt_id: HP:0005079
synonym: "Dumbbell shaped metaphyses" EXACT []
synonym: "Dumbbell shaped metaphysis" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Dumbbell shaped wide portion of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C3277123
is_a: HP:0000944 ! Abnormal metaphysis morphology

[Term]
id: HP:0002812
name: Coxa vara
def: "Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees." [https://orcid.org/0000-0002-0736-9199]
comment: The Latin word 'coxa' refers to the hip, and varus is a term for the inward angulation of the distal segment of a bone or joint. The normal range of the angle between the ball and the shaft of the femur is 120 to 135 degrees. Coxa vara can be congenital, developmental, or acquired.
xref: SNOMEDCT_US:74820003
xref: UMLS:C0239138
is_a: HP:0003367 ! Abnormal femoral neck morphology

[Term]
id: HP:0002813
name: Abnormal limb bone morphology
def: "Any abnormality of bones of the arms or legs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal shape of limb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of limb bone morphology" EXACT []
synonym: "Arm and/or leg bone differences" EXACT layperson []
synonym: "Limb abnormality" EXACT layperson []
xref: UMLS:C4082761
is_a: HP:0011844 ! Abnormal appendicular skeleton morphology
is_a: HP:0040068 ! Abnormality of limb bone

[Term]
id: HP:0002814
name: Abnormality of the lower limb
def: "An abnormality of the leg." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the leg" EXACT []
synonym: "Abnormality of the lower limb" EXACT layperson []
synonym: "Lower limb deformities" EXACT layperson []
xref: SNOMEDCT_US:449715001
xref: UMLS:C1096086
is_a: HP:0040064 ! Abnormality of limbs

[Term]
id: HP:0002815
name: Abnormality of the knee
def: "An abnormality of the knee joint or surrounding structures." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the knee" EXACT layperson []
xref: UMLS:C4025676
is_a: HP:0100491 ! Abnormality of lower limb joint

[Term]
id: HP:0002816
name: Genu recurvatum
def: "An abnormally increased extension of the knee joint, so that the knee can bend backwards." [https://orcid.org/0000-0002-0736-9199, PMID:9580896]
comment: Individuals with genu recurvatum may experience knee pain, display an extension gait pattern, and have poor proprioceptive control of terminal knee extension.
subset: hposlim_core
synonym: "Back knee" EXACT layperson [https://en.wikipedia.org/wiki/genu_recurvatum, https://orcid.org/0000-0001-6908-9849]
synonym: "Genu recurvata" EXACT []
synonym: "Knee hyperextension" EXACT layperson [https://en.wikipedia.org/wiki/genu_recurvatum, https://orcid.org/0000-0001-6908-9849]
xref: MEDDRA:10018194 "Genu recurvatum"
xref: UMLS:C0546964
is_a: HP:0010500 ! Hyperextensibility of the knee

[Term]
id: HP:0002817
name: Abnormality of the upper limb
alt_id: HP:0003838
def: "An abnormality of the arm." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the arm" EXACT []
synonym: "Abnormality of the upper limb" EXACT layperson []
xref: UMLS:C4020900
is_a: HP:0040064 ! Abnormality of limbs

[Term]
id: HP:0002818
name: Abnormal morphology of the radius
alt_id: HP:0045009
def: "An abnormality of the radius." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the radius" EXACT []
xref: UMLS:C4025675
is_a: HP:0040072 ! Abnormal forearm bone morphology

[Term]
id: HP:0002821
name: Neuropathic arthropathy
synonym: "Charcot arthropathy" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Charcot joint" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:359554008
xref: SNOMEDCT_US:67536000
xref: UMLS:C0003892
is_a: HP:0003040 ! Arthropathy

[Term]
id: HP:0002822
name: Hyperplasia of the femoral trochanters
synonym: "Hyperplastic femoral trochanters" EXACT []
xref: UMLS:C3277120
is_a: HP:0003366 ! Abnormal femoral neck/head morphology

[Term]
id: HP:0002823
name: Abnormal femur morphology
alt_id: HP:0001439
def: "Any anomaly of the structure of the femur." [https://orcid.org/0000-0002-0736-9199]
comment: The femur (plural: femora) is the thigh bone.
synonym: "Abnormality of femur morphology" EXACT []
synonym: "Abnormality of the femora" EXACT []
synonym: "Abnormality of the thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021750
is_a: HP:0040069 ! Abnormal lower limb bone morphology

[Term]
id: HP:0002825
name: Caudal appendage
def: "The presence of a tail-like skin appendage located adjacent to the sacrum." [https://orcid.org/0000-0002-0736-9199, PMID:18266249, PMID:18629881, PMID:23904413]
subset: hposlim_core
synonym: "Coccygeal tail" EXACT []
synonym: "Human tail" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Sacral appendage" EXACT []
xref: UMLS:C3277117
is_a: HP:0008519 ! Abnormal coccyx morphology

[Term]
id: HP:0002826
name: Halberd-shaped pelvis
def: "An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle)." [https://orcid.org/0000-0002-0736-9199, PMID:19232556]
synonym: "Halberd-shaped pelvis bone" EXACT []
xref: UMLS:C3277119
is_a: HP:0040163 ! Abnormal pelvis bone morphology

[Term]
id: HP:0002827
name: Hip dislocation
alt_id: HP:0001375
alt_id: HP:0008826
def: "Displacement of the femur from its normal location in the hip joint." [https://orcid.org/0000-0002-0736-9199]
synonym: "Dislocated femoral heads" EXACT []
synonym: "Dislocated hips" EXACT layperson []
synonym: "Dislocation of hip" EXACT layperson []
synonym: "Dislocation of the femoral head" EXACT []
synonym: "Hip dislocation" EXACT layperson []
xref: SNOMEDCT_US:157265008
xref: UMLS:C0019554
is_a: HP:0001384 ! Abnormal hip joint morphology
is_a: HP:0030311 ! Lower extremity joint dislocation

[Term]
id: HP:0002828
name: Multiple joint contractures
xref: SNOMEDCT_US:19393004
xref: SNOMEDCT_US:202264009
xref: UMLS:C0158118
is_a: HP:0001371 ! Flexion contracture

[Term]
id: HP:0002829
name: Arthralgia
def: "Joint pain." [https://orcid.org/0000-0002-0736-9199]
comment: Arthralgia is distinct from Arthritis, which is not a symptom but a diagnosis with articular inflammation or signs of osteoarthritis.
synonym: "Arthralgias" EXACT []
synonym: "Arthritic pain" RELATED []
synonym: "Joint pain" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Joint pains" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:57676002
xref: UMLS:C0003862
is_a: HP:0012531 ! Pain

[Term]
id: HP:0002831
name: Long coccyx
synonym: "Long tailbone" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C3277116
is_a: HP:0008519 ! Abnormal coccyx morphology

[Term]
id: HP:0002832
name: Calcific stippling
alt_id: HP:0005738
def: "An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Discrete calcific stippling" EXACT []
xref: UMLS:C1849993
is_a: HP:0010766 ! Ectopic calcification

[Term]
id: HP:0002833
name: Cystic angiomatosis of bone
def: "Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping." [https://orcid.org/0000-0002-0736-9199, PMID:11930062]
comment: The term Cystic angiomatosis is used to describe a disease entity that includes cystic angiomatosis of bone and of visceral organs.
synonym: "Lytic cystic lesions in appendicular bones" EXACT []
xref: UMLS:C4021749
is_a: HP:0012062 ! Bone cyst

[Term]
id: HP:0002834
name: Flared femoral metaphysis
synonym: "Flared metaphysis of thigh bone" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025674
is_a: HP:0006489 ! Abnormal femoral metaphysis morphology
is_a: HP:0030307 ! Flared lower limb metaphysis

[Term]
id: HP:0002835
name: Aspiration
def: "Inspiration of a foreign object into the airway." [https://orcid.org/0000-0002-0736-9199]
synonym: "Pulmonary aspiration" RELATED [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:413585005
xref: SNOMEDCT_US:68052005
xref: UMLS:C0700198
xref: UMLS:C2712334
is_a: HP:0002795 ! Abnormal respiratory system physiology

[Term]
id: HP:0002836
name: Bladder exstrophy
def: "Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall." [https://orcid.org/0000-0002-0736-9199, PMID:23650202]
comment: Exstrophy of the bladder can be associated with epispadias and bifid penis or in females with bifid clitoris, a bifid uterus, and a septated vagina, each of which should be coded separately.
synonym: "Ectopia vesicae" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:61758007
xref: UMLS:C0005689
is_a: HP:0025487 ! Abnormal bladder morphology
is_a: HP:0100548 ! Exstrophy

[Term]
id: HP:0002837
name: Recurrent bronchitis
alt_id: HP:0002785
def: "An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis." [https://orcid.org/0000-0002-0736-9199, ISBN:0199747725, PMID:28261574]
synonym: "Bronchitis, recurrent" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C0741796
is_a: HP:0002783 ! Recurrent lower respiratory tract infections
is_a: HP:0012387 ! Bronchitis
is_a: HP:0025426 ! Abnormal bronchus morphology

[Term]
id: HP:0002839
name: Urinary bladder sphincter dysfunction
alt_id: HP:0000018
def: "Abnormal function of a sphincter of the urinary bladder." [https://orcid.org/0000-0002-0736-9199]
synonym: "Sphincter disturbance" EXACT []
synonym: "Sphincter disturbances" EXACT []
xref: UMLS:C1843663
is_a: HP:0000009 ! Functional abnormality of the bladder

[Term]
id: HP:0002840
name: Lymphadenitis
def: "Inflammation of a lymph node." [https://orcid.org/0000-0002-0736-9199]
synonym: "Inflammation of the lymph nodes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:19471005
xref: UMLS:C0024205
is_a: HP:0002733 ! Abnormal lymph node morphology
is_a: HP:0012649 ! Increased inflammatory response

[Term]
id: HP:0002841
name: Recurrent fungal infections
alt_id: HP:0005350
alt_id: HP:0005380
alt_id: HP:0005388
def: "Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection." [https://orcid.org/0000-0002-0736-9199]
synonym: "Recurrent fungal infections" EXACT layperson []
xref: UMLS:C1844384
is_a: HP:0002719 ! Recurrent infections
is_a: HP:0020100 ! Unusual fungal infection

[Term]
id: HP:0002842
name: Recurrent Burkholderia cepacia infections
def: "Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025673
is_a: HP:0005420 ! Recurrent gram-negative bacterial infections

[Term]
id: HP:0002843
name: Abnormal T cell morphology
alt_id: HP:0002734
alt_id: HP:0030332
def: "Abnormal increase or decrease of total or subset T cell count. T cells are commonly characterized as CD3+ lymphocytes, or their subpopulations, in the blood, compared to a reference range for a given sex and age-group, measured ex vivo. These may include both TCR alpha/beta and gamma/delta T cells." [https://orcid.org/0000-0002-0736-9199]
comment: T-cells are lymphocytes whose principle function in the adaptive immune system is to mediate cell-mediated immunity.
synonym: "Abnormal T cells" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Abnormality of T cells" EXACT []
synonym: "Cellular immune defect" EXACT []
synonym: "Defective cellular immunity" EXACT []
xref: UMLS:C1855752
is_a: HP:0004332 ! Abnormal lymphocyte morphology

[Term]
id: HP:0002845
name: obsolete Increased proportion of peripheral CD3+ T cells
is_obsolete: true
replaced_by: HP:0002851

[Term]
id: HP:0002846
name: Abnormal B cell morphology
def: "A structural abnormality of B cells." [https://orcid.org/0000-0002-0736-9199, PMID:18725575]
comment: B cells are bursal or bone marrow-derived lymphocytes whose principle function in the adaptive immune system is to make antibodies against antigens. A simple definition of B lymphocytes is a population of cells that express clonally diverse cell surface immunoglobulin (Ig) receptors recognizing specific antigenic epitopes. Over 10 B cell-specific cell surface molecules have been identified by monoclonal antibodies, including CD19, which is considered a pan-B cell and possibly follicular dendritic cell marker, and CD20, which is considered to be a marker for mature B cells.
synonym: "Abnormal B cells" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Abnormality of B cells" EXACT []
xref: UMLS:C4021748
is_a: HP:0004332 ! Abnormal lymphocyte morphology

[Term]
id: HP:0002847
name: Impaired memory B cell generation
def: "Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025672
is_a: HP:0005372 ! Abnormality of B cell physiology

[Term]
id: HP:0002848
name: Decreased specific anti-polysaccharide antibody level
def: "The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides." [https://orcid.org/0000-0002-0736-9199]
comment: Specific anti-polysaccharide antibody deficiency is associated with an increased risk of infection with Streptococcus pneumoniae, Haemophilus influenzae type b, and Staphylococcus aureus.
synonym: "Depressed antibody response to polysaccharide antigens" EXACT []
synonym: "Low specific anti-polysaccharide antibody titer" EXACT []
synonym: "Specific anti-polysaccharide antibody deficiency" EXACT []
xref: UMLS:C4021747
is_a: HP:0012475 ! Decreased circulating level of specific antibody

[Term]
id: HP:0002849
name: Absence of lymph node germinal center
def: "Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absence of lymph node germinal centre" EXACT uk_spelling []
synonym: "Lymph nodes lack germinal center" EXACT []
synonym: "Lymph nodes lack germinal centre" EXACT uk_spelling []
synonym: "Lymphoid germinal center defect" EXACT []
synonym: "Lymphoid germinal centre defect" EXACT uk_spelling []
xref: UMLS:C1847383
is_a: HP:0002733 ! Abnormal lymph node morphology

[Term]
id: HP:0002850
name: Decreased circulating total IgM
alt_id: HP:0003147
alt_id: HP:0005385
def: "An abnormally decreased level of immunoglobulin M (IgM) in blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased IgM" EXACT []
synonym: "Decreased IgM level" EXACT []
synonym: "IgM deficiency" EXACT []
synonym: "Reduced IgM levels" EXACT []
xref: UMLS:C0239989
is_a: HP:0004313 ! Decreased circulating immunoglobulin concentration
is_a: HP:0410243 ! Abnormal circulating IgM concentration

[Term]
id: HP:0002851
name: Elevated double-negative T cell proportion
alt_id: HP:0002845
def: "Abnormal increase of double negative (DN) CD3+CD4-CD8- T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population." []
synonym: "Elevated proportion of CD4-negative, CD8-negative T cells" EXACT []
synonym: "Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors" EXACT []
xref: UMLS:C1858973
is_a: HP:0031399 ! Abnormal double-negative T cell proportion

[Term]
id: HP:0002853
name: Increased HLA DR+ CD4+ T cell proportion
def: "Abnormal increase of the activated HLA-DR+ CD4+ T cell subpopulation, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group." [PMID:11531958]
comment: HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation.
synonym: "Increased HLA DR+ T cell proportion" EXACT []
synonym: "Increased proportion of HLA DR+ T cells" EXACT []
xref: UMLS:C1858974
is_a: HP:0025840 ! Abnormal HLA DR+ CD4+ T cell proportion

[Term]
id: HP:0002857
name: Genu valgum
alt_id: HP:0004999
def: "The legs angle inward, such that the knees are close together and the ankles far apart." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Genu valga" EXACT []
synonym: "Genu valgus" EXACT []
synonym: "Genua valga" EXACT []
synonym: "Knee joint valgus deformity" EXACT []
synonym: "Knock knees" EXACT layperson []
xref: MEDDRA:10023480 "Knock-knee"
xref: SNOMEDCT_US:299330008
xref: UMLS:C0576093
is_a: HP:0002979 ! Bowing of the legs
is_a: HP:0034669 ! Abnormal knee morphology

[Term]
id: HP:0002858
name: Meningioma
alt_id: HP:0006754
def: "The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater." [https://orcid.org/0000-0002-0736-9199]
synonym: "Noncancerous growth of membranes covering brain" BROAD layperson [https://orcid.org/0000-0002-6548-5200]
xref: NCIT:C3230
xref: UMLS:C0025286
is_a: HP:0010651 ! Abnormal meningeal morphology
is_a: HP:0100835 ! Benign neoplasm of the central nervous system

[Term]
id: HP:0002859
name: Rhabdomyosarcoma
xref: NCIT:C3359
xref: SNOMEDCT_US:302847003
xref: SNOMEDCT_US:30924005
xref: UMLS:C0035412
is_a: HP:0009728 ! Neoplasm of striated muscle
is_a: HP:0030448 ! Soft tissue sarcoma

[Term]
id: HP:0002860
name: Squamous cell carcinoma
def: "The presence of squamous cell carcinoma of the skin." [https://orcid.org/0000-0002-0736-9199]
synonym: "Squamous cell cancer" BROAD [https://orcid.org/0000-0001-6908-9849]
xref: NCIT:C2929
xref: SNOMEDCT_US:28899001
xref: SNOMEDCT_US:402815007
xref: UMLS:C0007137
xref: UMLS:C0751688
is_a: HP:0008069 ! Neoplasm of the skin

[Term]
id: HP:0002861
name: Melanoma
alt_id: HP:0002887
alt_id: HP:0006777
alt_id: HP:0007474
def: "The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea)." [https://orcid.org/0000-0002-0736-9199]
comment: A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis.
synonym: "Cancer of skin pigment cells" BROAD layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Malignant melanoma" EXACT []
synonym: "Skin cancer (melanoma)" BROAD layperson []
xref: NCIT:C3224
xref: SNOMEDCT_US:2092003
xref: SNOMEDCT_US:372244006
xref: UMLS:C0025202
is_a: HP:0011792 ! Neoplasm by histology

[Term]
id: HP:0002862
name: Bladder carcinoma
def: "The presence of a carcinoma of the urinary bladder." [https://orcid.org/0000-0002-0736-9199]
xref: NCIT:C2916
xref: SNOMEDCT_US:255108000
xref: UMLS:C0699885
is_a: HP:0009725 ! Bladder neoplasm

[Term]
id: HP:0002863
name: Myelodysplasia
alt_id: HP:0004832
alt_id: HP:0006730
def: "Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic myelodysplasia" RELATED []
synonym: "Myelodysplastic syndrome" EXACT []
xref: SNOMEDCT_US:109995007
xref: SNOMEDCT_US:128623006
xref: SNOMEDCT_US:188736006
xref: UMLS:C1851971
xref: UMLS:C3463824
is_a: HP:0004377 ! Hematological neoplasm

[Term]
id: HP:0002864
name: Paraganglioma of head and neck
synonym: "Paragangliomas, head and neck" EXACT []
xref: UMLS:C1333944
is_a: HP:0002668 ! Paraganglioma

[Term]
id: HP:0002865
name: Medullary thyroid carcinoma
def: "The presence of a medullary carcinoma of the thyroid gland." [https://orcid.org/0000-0002-0736-9199]
synonym: "Medullary thyroid cancer" BROAD [https://orcid.org/0000-0001-6908-9849]
xref: NCIT:C3879
xref: SNOMEDCT_US:128916007
xref: SNOMEDCT_US:255032005
xref: UMLS:C0238462
is_a: HP:0002890 ! Thyroid carcinoma

[Term]
id: HP:0002866
name: Hypoplastic iliac wing
alt_id: HP:0003169
alt_id: HP:0003181
alt_id: HP:0008837
def: "Underdevelopment of the ilium ala." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Hypoplastic iliac alae" EXACT []
synonym: "Hypoplastic iliac wings" EXACT []
synonym: "Small iliac wings" EXACT []
xref: UMLS:C1865027
is_a: HP:0000946 ! Hypoplastic ilia
is_a: HP:0011867 ! Abnormal iliac wing morphology

[Term]
id: HP:0002867
name: Abnormal ilium morphology
def: "An abnormality of the ilium, the largest and uppermost bone of the pelvis." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the ilium" EXACT []
synonym: "Iliac abnormalities" EXACT []
xref: UMLS:C4021746
is_a: HP:0003272 ! Abnormal hip bone morphology

[Term]
id: HP:0002868
name: Narrow iliac wing
def: "Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally)." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Narrow iliac wings" EXACT plural_form []
xref: UMLS:C1836688
is_a: HP:0011867 ! Abnormal iliac wing morphology

[Term]
id: HP:0002869
name: Flared iliac wing
def: "Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing." [https://orcid.org/0000-0002-0736-9199, PMID:28744080]
comment: See Figure 4A of PMID:28744080.
subset: hposlim_core
synonym: "Flared iliac wings" EXACT plural_form []
xref: UMLS:C1865841
is_a: HP:0011867 ! Abnormal iliac wing morphology

[Term]
id: HP:0002870
name: Obstructive sleep apnea
def: "Obstructive Sleep Apnea is a condition characterized by the obstruction of the airway and pauses in breathing during sleep, which occur multiple times throughout the night. It is related to the relaxation of muscle tone that typically happens during sleep, leading to a partial collapse of the soft tissues in the airway and causing airflow obstruction." [PMID:35609941]
synonym: "Obstructive sleep apnoea" RELATED []
xref: SNOMEDCT_US:78275009
xref: UMLS:C0520679
is_a: HP:0010535 ! Sleep apnea
property_value: terms:contributor https://orcid.org/0000-0001-6262-8264
property_value: terms:contributor https://orcid.org/0000-0001-9446-5121
property_value: terms:contributor https://orcid.org/0000-0002-1592-0825
property_value: terms:contributor https://orcid.org/0000-0002-4672-4923
property_value: terms:contributor https://orcid.org/0000-0002-5554-6946
property_value: terms:contributor https://orcid.org/0000-0002-7367-663X

[Term]
id: HP:0002871
name: Central apnea
def: "Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow." [https://orcid.org/0000-0002-0736-9199]
synonym: "Central apnoea" EXACT []
xref: UMLS:C0520680
is_a: HP:0002104 ! Apnea

[Term]
id: HP:0002872
name: Apneic episodes precipitated by illness, fatigue, stress
def: "Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress." [https://orcid.org/0000-0002-0736-9199]
synonym: "Episodic apnea induced by febrile illness or stress" EXACT []
xref: UMLS:C3806462
is_a: HP:0002104 ! Apnea

[Term]
id: HP:0002875
name: Exertional dyspnea
def: "Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest." [PMID:29763022]
synonym: "Exertional breathlessness" EXACT layperson []
synonym: "Exertional dyspnoea" EXACT uk_spelling []
synonym: "Shortness of breathing upon physical activity" EXACT layperson []
xref: SNOMEDCT_US:60845006
xref: UMLS:C0231807
is_a: HP:0002094 ! Dyspnea

[Term]
id: HP:0002876
name: Episodic tachypnea
alt_id: HP:0002881
def: "Episodes of very rapid breathing." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hyperpnea, episodic" EXACT []
xref: UMLS:C3806218
is_a: HP:0002789 ! Tachypnea

[Term]
id: HP:0002877
name: Nocturnal hypoventilation
def: "An abnormal reduction in alveolar ventilation occurring during sleep. This is characterized by a rise in arterial carbon dioxide." [PMID:20308760]
synonym: "Hypoventilation during sleep" EXACT []
synonym: "Nocturnal hypopnea" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Nocturnal slow breathing" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Nocturnal under breathing" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1843643
is_a: HP:0002791 ! Hypoventilation

[Term]
id: HP:0002878
name: Respiratory failure
alt_id: HP:0004877
def: "A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits." [https://orcid.org/0000-0002-0736-9199]
comment: Respiratory failure is classified as type 1 with hypoxemia (arterial partial pressure of oxygen less than 60 mmHg) without hypercapnea, and type 2 with hypoxemia in the present of hypercapnea (partial pressure of carbon dioxide over 50 mmHg).
synonym: "Respiratory failure" EXACT layperson []
xref: SNOMEDCT_US:409622000
xref: UMLS:C1145670
is_a: HP:0002093 ! Respiratory insufficiency

[Term]
id: HP:0002879
name: Anisospondyly
def: "Abnormally increased variability of the size of the vertebral bodies." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1857101
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0002880
name: obsolete Respiratory difficulties
is_obsolete: true
replaced_by: HP:0002098

[Term]
id: HP:0002882
name: Sudden episodic apnea
def: "Recurrent bouts of sudden, severe apnea that may be life-threatening." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025671
is_a: HP:0002104 ! Apnea

[Term]
id: HP:0002883
name: Hyperventilation
def: "Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide." [https://orcid.org/0000-0002-0736-9199]
synonym: "Rapid breathing" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:68978004
xref: UMLS:C0020578
is_a: HP:0002793 ! Abnormal pattern of respiration

[Term]
id: HP:0002884
name: Hepatoblastoma
def: "A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts." [eMedicine:986802, https://orcid.org/0000-0002-0736-9199]
comment: Hepatoblastoma occurs nearly exclusively in infants and children.
xref: NCIT:C3728
xref: SNOMEDCT_US:109843000
xref: SNOMEDCT_US:45024009
xref: UMLS:C0206624
is_a: HP:0002896 ! Neoplasm of the liver
is_a: HP:0002898 ! Embryonal neoplasm

[Term]
id: HP:0002885
name: Medulloblastoma
def: "A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults." [https://orcid.org/0000-0002-0736-9199]
comment: Medulloblastoma is a highly malignant primary brain tumor that originates in the cerebellum or posterior fossa and belonging to the family of cranial primitive neuroectodermal tumors.
xref: NCIT:C3222
xref: SNOMEDCT_US:443333004
xref: SNOMEDCT_US:83217000
xref: UMLS:C0025149
is_a: HP:0100836 ! Malignant neoplasm of the central nervous system

[Term]
id: HP:0002886
name: Vagal paraganglioma
def: "A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve." [https://orcid.org/0000-0002-0736-9199, PMID:17268589]
synonym: "Glomus vagale paraganglioma" RELATED []
synonym: "Glomus vagale tumor" EXACT []
synonym: "Glomus vagale tumour" EXACT uk_spelling []
synonym: "Vagal nerve tumors" EXACT []
synonym: "Vagal nerve tumours" EXACT uk_spelling []
xref: SNOMEDCT_US:253030004
xref: UMLS:C0474819
is_a: HP:0002864 ! Paraganglioma of head and neck

[Term]
id: HP:0002888
name: Ependymoma
def: "The presence of an ependymoma of the central nervous system." [https://orcid.org/0000-0002-0736-9199]
comment: According to MPATH, ependymomas are neoplasms derived from the ependymal cells lining the ventricles and aqueduct of the brain and the central canal of the spinal cord and may be malignant or benign.
xref: NCIT:C3017
xref: SNOMEDCT_US:443643007
xref: SNOMEDCT_US:57706008
xref: UMLS:C0014474
is_a: HP:0009733 ! Glioma

[Term]
id: HP:0002890
name: Thyroid carcinoma
def: "The presence of a carcinoma of the thyroid gland." [https://orcid.org/0000-0002-0736-9199]
xref: NCIT:C2916
xref: UMLS:C0549473
is_a: HP:0100031 ! Neoplasm of the thyroid gland

[Term]
id: HP:0002891
name: Uterine leiomyosarcoma
def: "The presence of a leiomyosarcoma of the uterus." [https://orcid.org/0000-0002-0736-9199]
comment: Leiomyosarcoma is a malignant tumor derived form pluripotential mesenchymal stem cells or smooth muscle cells [MPATH].
xref: NCIT:C3158
xref: SNOMEDCT_US:447389009
xref: UMLS:C0280631
is_a: HP:0010784 ! Uterine neoplasm
is_a: HP:0100243 ! Leiomyosarcoma

[Term]
id: HP:0002893
name: Pituitary adenoma
def: "A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary)." [https://orcid.org/0000-0002-0538-4547, PMID:32119338]
comment: In most cases pituitary adenoma are histologically benign, slow-growing, small neoplasms confined to the sella turcica. Some pituitary adenomas are more aggressive, grow faster, invade surrounding tissues, and cause local symptoms such as visual disturbances, headache, and varying degrees of hypopituitarism. Pituitary adenoma can be described as microadenoma, macroadenoma, and giant tumors based on size. Microadenoma is a tumor less than 10 mm, while macroadenoma describes a tumor larger than 10mm. Giant pituitary tumors are bigger than 40 mm.
synonym: "Noncancerous tumor in pituitary gland" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Noncancerous tumour in pituitary gland" EXACT uk_spelling []
synonym: "Pituitary gland adenoma" EXACT []
xref: ICD-O:M8272/0 "Pituitary adenoma"
xref: NCIT:C2855
xref: SNOMEDCT_US:128664001
xref: SNOMEDCT_US:254956000
xref: UMLS:C0032000
is_a: HP:0011750 ! Neoplasm of the anterior pituitary

[Term]
id: HP:0002894
name: Neoplasm of the pancreas
alt_id: HP:0004511
def: "A tumor (abnormal growth of tissue) of the pancreas." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cancer of the pancreas" BROAD layperson []
synonym: "increased risk of pancreatic cancer" RELATED layperson []
synonym: "Neoplasia of the pancreas" EXACT []
synonym: "Pancreatic cancer" BROAD layperson []
synonym: "Pancreatic tumor" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Pancreatic tumour" EXACT uk_spelling []
xref: NCIT:C3262
xref: SNOMEDCT_US:126859007
xref: SNOMEDCT_US:363418001
xref: UMLS:C0030297
xref: UMLS:C0346647
xref: UMLS:C1842408
is_a: HP:0001732 ! Abnormality of the pancreas
is_a: HP:0034930 ! Digestive system neoplasm

[Term]
id: HP:0002895
name: Papillary thyroid carcinoma
def: "The presence of a papillary adenocarcinoma of the thyroid gland." [https://orcid.org/0000-0002-0736-9199]
synonym: "Papillary carcinoma of thyroid" EXACT []
synonym: "Thyroid papillary carcinoma" EXACT []
xref: NCIT:C2853
xref: SNOMEDCT_US:255029007
xref: UMLS:C0238463
is_a: HP:0002890 ! Thyroid carcinoma

[Term]
id: HP:0002896
name: Neoplasm of the liver
def: "A tumor (abnormal growth of tissue) of the liver." [https://orcid.org/0000-0002-0736-9199]
synonym: "Liver cancer" EXACT layperson []
synonym: "Liver tumor" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Liver tumour" EXACT uk_spelling []
xref: NCIT:C3262
xref: SNOMEDCT_US:126851005
xref: SNOMEDCT_US:93870000
xref: UMLS:C0023903
xref: UMLS:C0345904
is_a: HP:0001392 ! Abnormality of the liver
is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract

[Term]
id: HP:0002897
name: Parathyroid adenoma
alt_id: HP:0008257
def: "A benign tumor of the parathyroid gland that can cause hyperparathyroidism." [https://orcid.org/0000-0002-0736-9199]
synonym: "Parathyroid adenomas" EXACT []
xref: ICD-10:D35.1 "Benign neoplasm: Parathyroid gland"
xref: NCIT:C2855
xref: SNOMEDCT_US:128474007
xref: UMLS:C0262587
is_a: HP:0100733 ! Neoplasm of the parathyroid gland

[Term]
id: HP:0002898
name: Embryonal neoplasm
synonym: "Embryonal neoplasia" EXACT []
synonym: "Embryonal tumors" EXACT []
synonym: "Embryonal tumours" EXACT uk_spelling []
xref: UMLS:C0027654
is_a: HP:0011792 ! Neoplasm by histology

[Term]
id: HP:0002900
name: Hypokalemia
def: "An abnormally decreased potassium concentration in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Low blood potassium levels" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:166690008
xref: SNOMEDCT_US:43339004
xref: UMLS:C0020621
is_a: HP:0011042 ! Abnormal circulating potassium concentration

[Term]
id: HP:0002901
name: Hypocalcemia
def: "An abnormally decreased calcium concentration in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypocalcaemia" EXACT []
synonym: "Low blood calcium levels" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:5291005
xref: UMLS:C0020598
is_a: HP:0004363 ! Abnormal circulating calcium concentration

[Term]
id: HP:0002902
name: Hyponatremia
def: "An abnormally decreased sodium concentration in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Low blood sodium levels" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:89627008
xref: UMLS:C0020625
is_a: HP:0010931 ! Abnormal blood sodium concentration

[Term]
id: HP:0002904
name: Hyperbilirubinemia
def: "An increased amount of bilirubin in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "High blood bilirubin levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:26165005
xref: UMLS:C0311468
is_a: HP:0033479 ! Abnormal circulating bilirubin concentration

[Term]
id: HP:0002905
name: Hyperphosphatemia
def: "An abnormally increased phosphate concentration in the blood." [HPO_CONTRIBUTOR:gcarletti]
synonym: "High blood phosphate levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:20165001
xref: UMLS:C0085681
xref: UMLS:C0553706
is_a: HP:0100529 ! Abnormal blood phosphate concentration

[Term]
id: HP:0002907
name: Microscopic hematuria
def: "Microscopic hematuria detected by dipstick or microscopic examination of the urine." [https://orcid.org/0009-0006-4530-3154]
synonym: "Microhematuria" EXACT []
synonym: "Occult hematuria" EXACT []
synonym: "Small amount of blood in urine" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:197940006
xref: UMLS:C0239937
is_a: HP:0000790 ! Hematuria

[Term]
id: HP:0002908
name: Conjugated hyperbilirubinemia
alt_id: HP:0008351
synonym: "Direct hyperbilirubinemia" EXACT []
xref: SNOMEDCT_US:9326001
xref: UMLS:C0268307
is_a: HP:0002904 ! Hyperbilirubinemia

[Term]
id: HP:0002909
name: Generalized aminoaciduria
alt_id: HP:0008284
alt_id: HP:0008317
def: "An increased concentration of all types of amino acid in the urine." [https://orcid.org/0000-0002-0736-9199]
comment: This abnormality is distinct from aminoacidurias in which the urinary concentration of a single amino acid, or a of single group of amino acids, is increased.
synonym: "Generalised aminoaciduria" EXACT uk_spelling []
synonym: "Generalised nonspecific aminoaciduria" EXACT uk_spelling []
synonym: "Generalized nonspecific aminoaciduria" EXACT []
xref: UMLS:C1847868
is_a: HP:0003355 ! Aminoaciduria

[Term]
id: HP:0002910
name: Elevated circulating hepatic transaminase concentration
alt_id: HP:0001411
alt_id: HP:0003143
alt_id: HP:0003156
alt_id: HP:0003293
alt_id: HP:0006567
alt_id: HP:0006578
alt_id: HP:0008267
alt_id: HP:0008342
def: "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal liver enzymes" EXACT []
synonym: "Abnormal liver function" EXACT []
synonym: "Abnormal liver function tests" EXACT []
synonym: "Elevated circulating hepatic transaminase activity" EXACT []
synonym: "Elevated liver enzymes" EXACT []
synonym: "Elevated liver function tests" RELATED []
synonym: "Elevated serum transaminases" EXACT []
synonym: "Elevated transaminases" EXACT []
synonym: "High liver enzymes" EXACT layperson []
synonym: "Increased liver enzymes" EXACT []
synonym: "Increased liver function tests" EXACT []
synonym: "Increased transaminases" EXACT []
synonym: "Raised liver enzymes" EXACT []
synonym: "Subclinical abnormal liver function tests" EXACT []
xref: SNOMEDCT_US:166603001
xref: SNOMEDCT_US:166643006
xref: SNOMEDCT_US:75183008
xref: UMLS:C0086565
xref: UMLS:C0151766
xref: UMLS:C0235996
xref: UMLS:C0438237
xref: UMLS:C0438717
xref: UMLS:C0877359
xref: UMLS:C1842003
xref: UMLS:C1848701
is_a: HP:0430135 ! Abnormal circulating hepatic transaminase concentration

[Term]
id: HP:0002912
name: Methylmalonic acidemia
alt_id: HP:0003123
alt_id: HP:0008295
def: "Increased concentration of methylmalonic acid in the blood." [https://orcid.org/0000-0002-0736-9199, PMID:26101005]
comment: Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism.
synonym: "Elevated circulating methylmalonic acid concentration" EXACT []
xref: SNOMEDCT_US:42393006
xref: UMLS:C0268583
is_a: HP:0004341 ! Abnormality of vitamin B12 metabolism
is_a: HP:0010995 ! Abnormal circulating dicarboxylic acid concentration
is_a: HP:0032368 ! Acidemia

[Term]
id: HP:0002913
name: Myoglobinuria
def: "Presence of myoglobin in the urine." [https://orcid.org/0000-0002-0736-9199]
comment: Myoglobinuria is usually associated with rhabdomyolysis or muscle destruction.
xref: SNOMEDCT_US:48165008
xref: UMLS:C0027080
is_a: HP:0033354 ! Abnormal urine metabolite level

[Term]
id: HP:0002914
name: Hyperchloriduria
def: "An increased concentration of chloride in the urine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased urinary chloride" EXACT layperson []
xref: UMLS:C1846352
is_a: HP:0012600 ! Abnormal urine chloride concentration

[Term]
id: HP:0002916
name: Abnormality of chromosome segregation
def: "An abnormality of chromosome segregation." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025670
is_a: HP:0011017 ! Abnormal cellular physiology

[Term]
id: HP:0002917
name: Hypomagnesemia
alt_id: HP:0003284
def: "An abnormally decreased magnesium concentration in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Low blood magnesium levels" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Low blood Mg levels" EXACT abbreviation []
xref: SNOMEDCT_US:190855004
xref: UMLS:C0151723
is_a: HP:0004921 ! Abnormal magnesium concentration

[Term]
id: HP:0002918
name: Hypermagnesemia
def: "An abnormally increased magnesium concentration in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "High blood magnesium levels" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "High blood Mg levels" EXACT abbreviation []
xref: SNOMEDCT_US:66978005
xref: UMLS:C0151714
is_a: HP:0004921 ! Abnormal magnesium concentration

[Term]
id: HP:0002919
name: Ketonuria
def: "High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state." [https://orcid.org/0000-0002-0736-9199, PMID:11344564]
comment: Acetone is the main component of the ketone bodies.
synonym: "Acetonuria" RELATED []
synonym: "Ketoaciduria" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Ketonaciduria" EXACT []
synonym: "Ketone bodies in urine" EXACT [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:274783007
xref: SNOMEDCT_US:36815008
xref: UMLS:C0162275
is_a: HP:0033354 ! Abnormal urine metabolite level

[Term]
id: HP:0002920
name: Decreased circulating ACTH concentration
def: "The concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), is below the lower limit of normal in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025669
is_a: HP:0011043 ! Abnormal circulating adrenocorticotropin concentration

[Term]
id: HP:0002921
name: Abnormal cerebrospinal fluid morphology
def: "An abnormality of the cerebrospinal fluid (CSF)." [https://orcid.org/0000-0002-0736-9199]
comment: The cerebrospinal fluid (CSF) is secreted by the choroid plexus, and flows uninterrupted throughout the central nervous system (the central cerebrospinal canal of the spinal cord and through the four interconnected cerebral ventricles in the brain).
synonym: "Abnormal CSF findings" EXACT abbreviation []
synonym: "Abnormality of the cerebrospinal fluid" EXACT []
synonym: "Abnormality of the CSF" EXACT abbreviation []
xref: UMLS:C0151583
is_a: HP:0002011 ! Morphological central nervous system abnormality

[Term]
id: HP:0002922
name: Increased CSF protein concentration
def: "Increased concentration of protein in the cerebrospinal fluid." [HPO_CONTRIBUTOR:KI_phemming, PMID:29114301]
synonym: "Cerebrospinal fluid protein increased" EXACT []
synonym: "Cerebrospinal fluid with increased protein" EXACT []
synonym: "Elevated cerebrospinal fluid protein" EXACT []
synonym: "Elevated csf protein" EXACT []
synonym: "Hyperproteinorrhachia" EXACT []
synonym: "Increased CSF protein" EXACT []
synonym: "Increased protein in csf" EXACT []
synonym: "Spinal fluid protein elevated" EXACT []
xref: UMLS:C1806780
is_a: HP:0025456 ! Abnormal CSF protein concentration

[Term]
id: HP:0002923
name: Rheumatoid factor positive
def: "The presence in the serum of an autoantibody directed against the Fc portion of IgG." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:165839004
xref: UMLS:C0151379
is_a: HP:0030057 ! Autoimmune antibody positivity

[Term]
id: HP:0002924
name: obsolete Decreased circulating aldosterone level
is_obsolete: true
replaced_by: HP:0004319

[Term]
id: HP:0002925
name: Elevated circulating thyroid-stimulating hormone concentration
def: "Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation." [https://orcid.org/0000-0002-0538-4547]
synonym: "Elevated thyroid stimulating hormone" EXACT []
synonym: "Elevated thyroid stimulating hormone levels" EXACT []
synonym: "High TSH" EXACT abbreviation []
synonym: "Increased serum thyroid-stimulating hormone" EXACT []
synonym: "Increased thyroid-stimulating hormone" EXACT []
synonym: "Increased thyroid-stimulating hormone level" EXACT []
synonym: "Increased thyrotropin level" EXACT []
synonym: "Thyroid-stimulating hormone excess" EXACT []
synonym: "TSH excess" EXACT abbreviation []
xref: SNOMEDCT_US:309080005
xref: UMLS:C0586553
is_a: HP:0031097 ! Abnormal thyroid-stimulating hormone level

[Term]
id: HP:0002926
name: Abnormality of thyroid physiology
def: "An abnormal functionality of the thyroid gland." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal thyroid function" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C0857576
is_a: HP:0000820 ! Abnormality of the thyroid gland

[Term]
id: HP:0002927
name: Histidinuria
alt_id: HP:0010905
def: "An increased concentration of histidine in the urine." [https://orcid.org/0000-0002-0736-9199, PMID:18901181, PMID:20240447]
comment: Normal urinary histidine total (free and combined form) excretion is around 190 mg per 24 hours.
synonym: "Elevated histidine in urine" EXACT []
synonym: "High urine histidine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:78311009
xref: UMLS:C0268642
is_a: HP:0033100 ! Increased proteinogenic amino acid level in urine

[Term]
id: HP:0002928
name: Decreased activity of the pyruvate dehydrogenase complex
synonym: "Decreased activity of the PDH complex" EXACT []
synonym: "Pyruvate dehydrogenase complex deficiency" EXACT []
xref: UMLS:C1839888
is_a: HP:0003287 ! Abnormality of mitochondrial metabolism

[Term]
id: HP:0002929
name: Leydig cell insensitivity to gonadotropin
xref: UMLS:C4025668
is_a: HP:0008373 ! Puberty and gonadal disorders

[Term]
id: HP:0002930
name: Impaired sensitivity to thyroid hormone
alt_id: HP:0008215
alt_id: HP:0008243
alt_id: HP:0008262
def: "Reduced sensitivity of end organs to thyroid hormone characterized by elevated serum levels of free thyroid hormone with nonsuppressed thyroid stimulating hormone." [https://orcid.org/0000-0002-0538-4547, PMID:24847459]
comment: Impaired sensitivity to thyroid hormone may be accompanied by goiter and no clear symptoms and signs of thyrotoxicosis. The etiologies of this feature include defects in the thyroid hormone receptor, reduced cellular access of the biologically active thyroid hormone, T3 related to defects of thyroid hormone cell membrane transport, and a defect reducing the intracellular metabolism generating T3 from T4.
synonym: "Elevated serum levels of free thyroid hormone with nonsuppressed TSH" EXACT []
synonym: "End-organ unresponsiveness to thyroid hormone" EXACT []
synonym: "Resistance to thyroid hormone" EXACT []
synonym: "Thyroid hormone receptor defect" EXACT []
synonym: "Thyroid hormone resistance" EXACT []
xref: SNOMEDCT_US:111567006
xref: SNOMEDCT_US:237559000
xref: SNOMEDCT_US:237560005
xref: SNOMEDCT_US:50375007
xref: UMLS:C2940786
is_a: HP:0002926 ! Abnormality of thyroid physiology

[Term]
id: HP:0002932
name: Aldehyde oxidase deficiency
def: "A reduction in aldehyde oxidase level." [https://orcid.org/0000-0002-0736-9199]
comment: Aldehyde oxidase generates carboxylic acids from aldehydes.
xref: SNOMEDCT_US:124161002
xref: UMLS:C1291266
is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity

[Term]
id: HP:0002933
name: Ventral hernia
def: "Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:414396006
xref: UMLS:C0019326
is_a: HP:0004299 ! Hernia of the abdominal wall

[Term]
id: HP:0002936
name: Distal sensory impairment
alt_id: HP:0003476
alt_id: HP:0006843
alt_id: HP:0006845
alt_id: HP:0006922
alt_id: HP:0006971
alt_id: HP:0006993
alt_id: HP:0007138
alt_id: HP:0007292
alt_id: HP:0007296
def: "An abnormal reduction in sensation in the distal portions of the extremities." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased distal sensation" EXACT []
synonym: "Decreased sensation in extremities" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Distal sensation loss" EXACT []
synonym: "Distal sensory impairment in lower limbs" EXACT []
synonym: "Distal sensory impairment of the lower extremities" EXACT []
synonym: "Distal sensory loss" EXACT []
synonym: "Distal sensory loss, upper and lower limbs" EXACT []
synonym: "Loss of distal sensation" EXACT []
xref: UMLS:C1847584
is_a: HP:0003474 ! Somatic sensory dysfunction

[Term]
id: HP:0002937
name: Hemivertebrae
def: "Absence of one half of the vertebral body." [https://orcid.org/0000-0002-0736-9199]
comment: Lateral hemivertebrae represent a developmental defect resulting from the failure of the contralateral chondral center to develop. Dorsal hemivertebrae result from a developmental defect in which the anterior chondral centers fail to develop, and ventral hemivertebrae result from failure of the posterior centers to ossify. The affected half of the vertebral body may by hypoplastic or absent, as is the pedicle, and (for thoracic vetebrae) the corresponding rib. The affected half of the vertebral body may also show a fusion or segmentation defect.
subset: hposlim_core
synonym: "Hemi-vertebrae" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Hemivertebra" EXACT []
synonym: "Missing part of vertebrae" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:68359008
xref: UMLS:C0265677
is_a: HP:0003312 ! Abnormal form of the vertebral bodies
is_a: HP:0003422 ! Vertebral segmentation defect

[Term]
id: HP:0002938
name: Lumbar hyperlordosis
alt_id: HP:0002941
alt_id: HP:0004560
alt_id: HP:0004574
alt_id: HP:0004596
def: "An abnormal accentuation of the inward curvature of the spine in the lumbar region." [https://orcid.org/0000-0002-0736-9199]
synonym: "Exaggerated lumbar lordosis" EXACT []
synonym: "Excessive inward curvature of lower spine" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Increased lumbar lordosis" EXACT []
synonym: "Lumbar lordosis" EXACT []
synonym: "Prominent lumbar lordosis" EXACT []
xref: UMLS:C1184923
is_a: HP:0003307 ! Hyperlordosis

[Term]
id: HP:0002942
name: Thoracic kyphosis
def: "Over curvature of the thoracic region, leading to a round back or if sever to a hump." [https://orcid.org/0000-0002-0736-9199]
synonym: "Accentuated thoracic kyphosis" EXACT []
synonym: "Exaggerated thoracic kyphosis" EXACT []
xref: UMLS:C1184919
is_a: HP:0002808 ! Kyphosis
is_a: HP:0100711 ! Abnormal thoracic spine morphology

[Term]
id: HP:0002943
name: Thoracic scoliosis
alt_id: HP:0004615
xref: UMLS:C1857790
is_a: HP:0002650 ! Scoliosis
is_a: HP:0100711 ! Abnormal thoracic spine morphology

[Term]
id: HP:0002944
name: Thoracolumbar scoliosis
alt_id: HP:0004567
alt_id: HP:0004585
synonym: "Scoliosis, thoracolumbar" EXACT []
xref: UMLS:C0749379
is_a: HP:0002650 ! Scoliosis

[Term]
id: HP:0002945
name: Intervertebral space narrowing
def: "Decreased height of the intervertebral disk." [https://orcid.org/0000-0002-0736-9199]
comment: A decrease in the height of the intervertebral disks is usually observed as a narrowing of the space between the vertebrae on X-ray examination.
synonym: "Narrow intervertebral disc spaces" EXACT uk_spelling []
synonym: "Narrow intervertebral disk spaces" EXACT []
synonym: "Narrow intervertebral spaces" EXACT []
xref: SNOMEDCT_US:11301007
xref: UMLS:C0263870
is_a: HP:0005108 ! Abnormal intervertebral disk morphology

[Term]
id: HP:0002946
name: Supernumerary vertebrae
xref: SNOMEDCT_US:87294007
xref: UMLS:C0265681
is_a: HP:0009144 ! Supernumerary bones of the axial skeleton
is_a: HP:0030304 ! Abnormal number of vertebrae

[Term]
id: HP:0002947
name: Cervical kyphosis
def: "Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance." [https://orcid.org/0000-0002-0736-9199]
synonym: "Rounded neck" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:298393001
xref: UMLS:C0575170
is_a: HP:0002808 ! Kyphosis
is_a: HP:0005905 ! Abnormal cervical curvature

[Term]
id: HP:0002948
name: Vertebral fusion
alt_id: HP:0002807
alt_id: HP:0008471
alt_id: HP:0008485
def: "A developmental defect leading to the union of two adjacent vertebrae." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Congenital spinal fusion" EXACT []
synonym: "Congenitally fused vertebrae" EXACT []
synonym: "Fusion of vertebral bodies" EXACT []
synonym: "Vertebral body fusion" EXACT []
xref: UMLS:C1835763
xref: UMLS:C1849073
xref: UMLS:C3278509
is_a: HP:0003422 ! Vertebral segmentation defect
is_a: HP:0100240 ! Synostosis of joints

[Term]
id: HP:0002949
name: Fused cervical vertebrae
def: "A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another." []
synonym: "Cervical spine fusion" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Cervical vertebral fusion" EXACT []
synonym: "Fused neck" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Fusion of cervical vertebrae" EXACT []
xref: UMLS:C3887527
is_a: HP:0002948 ! Vertebral fusion

[Term]
id: HP:0002951
name: Partial absence of cerebellar vermis
def: "Congenital absence of a part of the vermis of cerebellum." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025667
is_a: HP:0006817 ! Aplasia/Hypoplasia of the cerebellar vermis

[Term]
id: HP:0002953
name: Vertebral compression fracture
synonym: "Compression fracture of a vertebral body" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Fractures of vertebral bodies" EXACT []
synonym: "Vertebral body compression" EXACT []
synonym: "Vertebral collapse" EXACT []
synonym: "Vertebral compression" EXACT []
synonym: "Vertebral compression fractures" EXACT plural_form []
synonym: "Vertebral compression or collapse" EXACT []
xref: SNOMEDCT_US:42942008
xref: SNOMEDCT_US:84138006
xref: UMLS:C0262431
xref: UMLS:C0410550
is_a: HP:0003468 ! Abnormal vertebral morphology

[Term]
id: HP:0002955
name: Granulomatosis
def: "A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity." [https://orcid.org/0000-0002-0736-9199, PMID:10908370, PMID:937513]
comment: This finding can be demonstrated by tissue biopsy. A granuloma is a compact (organized) collection of mature mononuclear phagocytes (macrophages and/or epithelioid cells) which may or may not be accompanied by accessory features such as necrosis or the infiltration of other inflammatory leukocytes (Adams DO. The granulomatous inflammatory response. Am J Pathol 1976:84:163-192).
xref: SNOMEDCT_US:443138004
xref: SNOMEDCT_US:44328006
xref: UMLS:C0521173
is_a: HP:0004311 ! Abnormal macrophage morphology

[Term]
id: HP:0002958
name: Immune dysregulation
def: "Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications." [PMID:26233425]
synonym: "Immune dysregulation" EXACT layperson []
synonym: "Unregulated immune response" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1844666
is_a: HP:0010978 ! Abnormality of immune system physiology

[Term]
id: HP:0002959
name: Impaired Ig class switch recombination
def: "An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE." [https://orcid.org/0000-0002-0736-9199, PMID:11544001]
comment: The generation of the antibody repertoire requires two successive steps. The first is antigen- and T-cell-independent; it takes place in the fetal liver and the bone marrow. Immature B lymphocytes rearrange their immunoglobulin-gene variable segments (V segments), diversity segments (D segments) and joining segments (J segments), producing a functionally integrated VDJ segment linked to the mu constant region (C-mu), which determines the primary antibody repertoire composed of IgM antibodies. The second step is antigen- and T-cell-dependent and takes place in secondary lymphoid organs. After encountering antigen, B cells proliferate and form germinal centers. In this unique anatomic formation, two genetic events lead to generation of the secondary antibody repertoire: class-switch recombination (CSR) and somatic hypermutation (SHM). CSR of immunoglobulins occurs by a recombination process between two different switch regions (S regions) located upstream of each C region. Replacement of C-mu by a constant region of another class of immunoglobulin (C-gamma, C-alpha or C-epsilon) ensues and leads to the production of IgG, IgA or IgE.
synonym: "Impaired B-lymphocyte isotype switching" EXACT []
xref: UMLS:C1842528
is_a: HP:0005372 ! Abnormality of B cell physiology

[Term]
id: HP:0002960
name: Autoimmunity
def: "The occurrence of an immune reaction against the organism's own cells or tissues." [https://orcid.org/0000-0002-0736-9199]
synonym: "Autoimmune condition" EXACT []
synonym: "Autoimmune disease" EXACT layperson []
synonym: "Autoimmune disorder" EXACT layperson []
synonym: "Autoimmunity" EXACT layperson []
xref: SNOMEDCT_US:85828009
xref: UMLS:C0004364
is_a: HP:0010978 ! Abnormality of immune system physiology

[Term]
id: HP:0002961
name: Dysgammaglobulinemia
def: "Selective deficiency of one or more, but not all, classes of immunoglobulins." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:123782009
xref: UMLS:C0013374
is_a: HP:0004313 ! Decreased circulating immunoglobulin concentration

[Term]
id: HP:0002963
name: Abnormal delayed hypersensitivity skin test
def: "Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter." [https://orcid.org/0000-0002-0736-9199]
comment: This is an immune function test measuring the presence of activated T cells that recognize a certain substance.
xref: UMLS:C1833172
is_a: HP:0011840 ! Abnormality of T cell physiology

[Term]
id: HP:0002965
name: Cutaneous anergy
alt_id: HP:0005427
def: "Inability to react to a delayed hypersensitivity skin test." [https://orcid.org/0000-0002-0736-9199]
comment: Anergy skin testing assesses the responses to skin-test antigens to which a cell-mediated, delayed-type hypersensitivity (DTH) response is expected.
synonym: "Absence of delayed hypersensitivity skin test" EXACT []
synonym: "Lack of delayed skin hypersensitivity reaction" EXACT []
xref: UMLS:C1855781
is_a: HP:0002963 ! Abnormal delayed hypersensitivity skin test

[Term]
id: HP:0002967
name: Cubitus valgus
def: "Abnormal positioning in which the elbows are turned out." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Outward turned elbows" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:54583007
xref: UMLS:C0158465
is_a: HP:0009811 ! Abnormality of the elbow

[Term]
id: HP:0002970
name: Genu varum
alt_id: HP:0003052
def: "A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Genu vara" EXACT []
synonym: "Genua vara" EXACT []
synonym: "Outward bow-leggedness" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Outward bowing at knees" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:299331007
xref: UMLS:C0544755
is_a: HP:0002979 ! Bowing of the legs
is_a: HP:0034669 ! Abnormal knee morphology

[Term]
id: HP:0002971
name: Absent microvilli on the surface of peripheral blood lymphocytes
def: "Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes." [PMID:15130947]
xref: UMLS:C1833173
is_a: HP:0004332 ! Abnormal lymphocyte morphology

[Term]
id: HP:0002972
name: Reduced delayed hypersensitivity
alt_id: HP:0005434
def: "Decreased ability to react to a delayed hypersensitivity skin test." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased reactivity to skin test antigens" EXACT []
synonym: "Deficiency of delayed skin hypersensitivity" EXACT []
synonym: "Impaired delayed hypersensitivity" EXACT []
xref: UMLS:C1843386
is_a: HP:0002963 ! Abnormal delayed hypersensitivity skin test

[Term]
id: HP:0002973
name: Abnormal forearm morphology
def: "An abnormality of the lower arm." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the forearm" EXACT layperson []
xref: UMLS:C4025666
is_a: HP:0002817 ! Abnormality of the upper limb

[Term]
id: HP:0002974
name: Radioulnar synostosis
alt_id: HP:0003962
def: "An abnormal osseous union (fusion) between the radius and the ulna." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Fused forearm bones" EXACT layperson []
xref: MEDDRA:10037798 "Radioulnar synostosis"
xref: SNOMEDCT_US:33313004
xref: UMLS:C0158761
is_a: HP:0002818 ! Abnormal morphology of the radius
is_a: HP:0040071 ! Abnormal morphology of ulna
is_a: HP:0100238 ! Synostosis involving bones of the upper limbs

[Term]
id: HP:0002977
name: Aplasia/Hypoplasia involving the central nervous system
alt_id: HP:0001323
def: "Absence or underdevelopment of tissue in the central nervous system." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/underdeveloped central nervous system tissue" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Aplasia/Hypoplasia involving the CNS" EXACT abbreviation []
xref: UMLS:C4025665
is_a: HP:0002011 ! Morphological central nervous system abnormality
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-31T05:13:00Z

[Term]
id: HP:0002979
name: Bowing of the legs
alt_id: HP:0006428
def: "A bending or abnormal curvature affecting a long bone of the leg." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bow legs" EXACT []
synonym: "Bow-leggedness" EXACT []
synonym: "Bowed legs" EXACT layperson []
synonym: "Bowed lower limbs" EXACT layperson []
xref: SNOMEDCT_US:299331007
xref: UMLS:C0544755
is_a: HP:0002981 ! Abnormality of the calf
is_a: HP:0006487 ! Bowing of the long bones

[Term]
id: HP:0002980
name: Femoral bowing
alt_id: HP:0004998
def: "Bowing (abnormal curvature) of the femur." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Bowed femur" EXACT []
synonym: "Bowed femura" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Bowed femurs" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Bowed thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1859461
is_a: HP:0002823 ! Abnormal femur morphology
is_a: HP:0002979 ! Bowing of the legs

[Term]
id: HP:0002981
name: Abnormality of the calf
def: "An abnormality of the calf, i.e. of the posterior part of the lower leg." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the calf" EXACT layperson []
xref: UMLS:C4021832
is_a: HP:0002814 ! Abnormality of the lower limb

[Term]
id: HP:0002982
name: Tibial bowing
alt_id: HP:0006363
def: "A bending or abnormal curvature of the tibia." [https://orcid.org/0000-0002-0736-9199]
comment: A developmental defect with posteromedial tibial angulation.
subset: hposlim_core
synonym: "Bowed shankbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Bowed shinbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Bowed tibia" EXACT []
synonym: "Bowing of the tibia" EXACT []
xref: UMLS:C1837081
is_a: HP:0002979 ! Bowing of the legs
is_a: HP:0002992 ! Abnormal tibia morphology

[Term]
id: HP:0002983
name: Micromelia
alt_id: HP:0003030
alt_id: HP:0005753
def: "The presence of abnormally small extremities." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Smaller or shorter than typical limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: MEDDRA:10027546 "Micromelia"
xref: SNOMEDCT_US:74370006
xref: UMLS:C0025995
is_a: HP:0009826 ! Limb undergrowth

[Term]
id: HP:0002984
name: Hypoplasia of the radius
alt_id: HP:0002995
alt_id: HP:0004989
alt_id: HP:0005014
alt_id: HP:0005081
alt_id: HP:0005714
alt_id: HP:0006418
def: "Underdevelopment of the radius." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Hypoplastic radii" EXACT []
synonym: "Hypoplastic radius" EXACT []
synonym: "Radial hypoplasia" EXACT []
synonym: "Radial ray hypoplasia" RELATED []
synonym: "Short radii" EXACT []
synonym: "Short radius" EXACT []
synonym: "Shortening of radius" EXACT []
synonym: "Underdeveloped outer large forearm bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:205170001
xref: SNOMEDCT_US:93288001
xref: UMLS:C0685381
xref: UMLS:C1840087
is_a: HP:0006501 ! Aplasia/Hypoplasia of the radius
is_a: HP:0009821 ! Forearm undergrowth

[Term]
id: HP:0002986
name: Radial bowing
alt_id: HP:0004996
def: "A bending or abnormal curvature of the radius." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Bowed radii" EXACT []
synonym: "Bowed radius" EXACT []
synonym: "Bowing of outer large bone of the forearm" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Bowing of radius bone of the forearm" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1859399
is_a: HP:0003956 ! Bowed forearm bones
is_a: HP:0045008 ! Abnormal shape of the radius

[Term]
id: HP:0002987
name: Elbow flexion contracture
alt_id: HP:0003937
alt_id: HP:0004984
alt_id: HP:0005654
def: "An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position." [https://orcid.org/0000-0002-0736-9199]
synonym: "Elbow flexion contractures" EXACT []
synonym: "Elbow flexion deformity" EXACT []
synonym: "Fixed flexion at the elbow joint" EXACT []
xref: SNOMEDCT_US:202271004
xref: UMLS:C0409338
is_a: HP:0002996 ! Limited elbow movement
is_a: HP:0034391 ! Elbow contracture

[Term]
id: HP:0002990
name: Fibular aplasia
alt_id: HP:0006373
def: "Absence of the fibula." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Absent calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent fibulae" EXACT []
synonym: "Absent-hypoplastic fibulae" EXACT []
xref: MEDDRA:10054882 "Fibula agenesis"
xref: UMLS:C1836186
is_a: HP:0006492 ! Aplasia/Hypoplasia of the fibula

[Term]
id: HP:0002991
name: Abnormal fibula morphology
def: "An anomaly of the calf bone (fibula), one of the two bones of the calf." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of fibula morphology" EXACT []
synonym: "Abnormality of the calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025664
is_a: HP:0002981 ! Abnormality of the calf
is_a: HP:0040069 ! Abnormal lower limb bone morphology

[Term]
id: HP:0002992
name: Abnormal tibia morphology
def: "Abnormality of the tibia (shinbone)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the shankbone" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Abnormality of the shinbone" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Abnormality of tibia morphology" EXACT []
xref: UMLS:C4025663
is_a: HP:0002981 ! Abnormality of the calf
is_a: HP:0040069 ! Abnormal lower limb bone morphology

[Term]
id: HP:0002996
name: Limited elbow movement
alt_id: HP:0006395
synonym: "Decreased elbow mobility" EXACT layperson []
synonym: "Limited elbow mobility" EXACT layperson []
synonym: "Limited elbow movement" EXACT layperson []
synonym: "Restricted elbow motion" EXACT layperson []
xref: UMLS:C1849955
is_a: HP:0001376 ! Limitation of joint mobility
is_a: HP:0009811 ! Abnormality of the elbow

[Term]
id: HP:0002997
name: obsolete Abnormality of the ulna
is_obsolete: true
replaced_by: HP:0040071

[Term]
id: HP:0002999
name: Patellar dislocation
def: "The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove." [https://orcid.org/0000-0002-0736-9199]
synonym: "Dislocated kneecap" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Dislocated patellae" EXACT []
synonym: "Dislocation of patella" EXACT []
xref: SNOMEDCT_US:263029007
xref: UMLS:C1135812
is_a: HP:0003045 ! Abnormal patella morphology
is_a: HP:0030311 ! Lower extremity joint dislocation

[Term]
id: HP:0003001
name: Glomus jugular tumor
synonym: "Glomus jugular tumour" EXACT uk_spelling []
synonym: "Glomus jugulare tumor" EXACT []
synonym: "Glomus jugulare tumors" EXACT []
synonym: "Glomus jugulare tumour" EXACT uk_spelling []
synonym: "Glomus jugulare tumours" EXACT uk_spelling []
xref: SNOMEDCT_US:127030001
xref: SNOMEDCT_US:32037004
xref: UMLS:C0017671
is_a: HP:0002864 ! Paraganglioma of head and neck

[Term]
id: HP:0003002
name: Breast carcinoma
def: "The presence of a carcinoma of the breast." [https://orcid.org/0000-0002-0736-9199]
synonym: "Breast cancer" EXACT layperson []
xref: NCIT:C2916
xref: SNOMEDCT_US:254838004
xref: UMLS:C0678222
is_a: HP:0100013 ! Neoplasm of the breast

[Term]
id: HP:0003003
name: Colon cancer
alt_id: HP:0006718
synonym: "Colon cancer" EXACT layperson []
xref: SNOMEDCT_US:363406005
xref: UMLS:C0007102
is_a: HP:0100273 ! Neoplasm of the colon

[Term]
id: HP:0003005
name: Ganglioneuroma
def: "A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells." [https://orcid.org/0000-0002-0736-9199]
comment: Ganglioneuromas and ganglioneuroblastomas are tumors of the sympathetic nervous system. They originate from neural crest sympathogonia, which are completely undifferentiated cells of the sympathetic nervous system.
xref: SNOMEDCT_US:116371000119107
xref: SNOMEDCT_US:128919000
xref: SNOMEDCT_US:53801007
xref: UMLS:C0017075
is_a: HP:0030450 ! Neoplasm of the autonomic nervous system

[Term]
id: HP:0003006
name: Neuroblastoma
alt_id: HP:0006738
def: "Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cancer of early nerve cells" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: NCIT:C3270
xref: SNOMEDCT_US:432328008
xref: SNOMEDCT_US:87364003
xref: UMLS:C0027819
is_a: HP:0004376 ! Neuroblastic tumor
is_a: HP:0030067 ! Peripheral primitive neuroectodermal neoplasm

[Term]
id: HP:0003009
name: Enhanced neurotoxicity of vincristine
xref: UMLS:C4025661
is_a: HP:0000759 ! Abnormal peripheral nervous system morphology

[Term]
id: HP:0003010
name: Prolonged bleeding time
alt_id: HP:0008294
alt_id: HP:0008337
def: "Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding." [https://orcid.org/0000-0002-5523-511X]
comment: The bleeding time test measures the time taken for blood vessel constriction and platelet plug formation to occur. No clot is allowed to form, so that the arrest of bleeding depends exclusively on blood vessel constriction and platelet action. To perform the test, pressure is maintained throughout the test by inflating a sphygmomanometer cuff on the upper arm. The dorsal surface of the forearm is then cleaned, and the bleeding time device placed onto the skin and the trigger is depressed. At 30-second intervals, the flow of blood is blotted with filter paper. The time from puncture to cessation of bleeding is then recorded as the bleeding time. Normal values depend on the device used and other parameters, but are around 2 to 9 minutes.
synonym: "Increased bleeding time" EXACT []
synonym: "Prolonged bleeding time" EXACT layperson []
xref: UMLS:C0151529
is_a: HP:0001892 ! Abnormal bleeding

[Term]
id: HP:0003011
name: Abnormality of the musculature
alt_id: HP:0003197
alt_id: HP:0003708
alt_id: HP:0040290
def: "Abnormality originating in one or more muscles, i.e., of the set of muscles of body." [https://orcid.org/0000-0002-0736-9199]
synonym: "Muscular abnormality" EXACT layperson []
xref: UMLS:C4021745
is_a: HP:0033127 ! Abnormality of the musculoskeletal system

[Term]
id: HP:0003013
name: Bulging epiphyses
def: "A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bulging end part of bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1833329
is_a: HP:0010580 ! Enlarged epiphyses

[Term]
id: HP:0003015
name: Flared metaphysis
alt_id: HP:0000945
alt_id: HP:0003047
alt_id: HP:0004994
alt_id: HP:0005015
alt_id: HP:0005095
alt_id: HP:0200002
def: "The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones." [https://orcid.org/0000-0002-0736-9199, PMID:12853662]
comment: Figure 11 of PMID:12853662 shows metaphyseal flaring.
synonym: "Flared wide portion of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Flared, widened metaphyses" EXACT []
synonym: "marked metaphyseal flaring of long bones" EXACT []
synonym: "Metaphyseal flaring" EXACT []
synonym: "Metaphyseal flaring of long bones" EXACT []
synonym: "Metaphyseal splaying" EXACT []
synonym: "Metaphyses flared" EXACT []
synonym: "Splayed metaphyses" EXACT []
xref: UMLS:C1850135
is_a: HP:0003016 ! Metaphyseal widening

[Term]
id: HP:0003016
name: Metaphyseal widening
alt_id: HP:0005074
def: "Abnormal widening of the metaphyseal regions of long bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad wide portion of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Wide metaphyses" EXACT []
synonym: "Widened long bone metaphyses" EXACT []
synonym: "Widened metaphyses" EXACT []
xref: UMLS:C1849039
is_a: HP:0000944 ! Abnormal metaphysis morphology

[Term]
id: HP:0003019
name: Abnormality of the wrist
alt_id: HP:0001224
def: "Abnormality of the wrist, the structure connecting the hand and the forearm." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormalities of the wrists" EXACT layperson []
synonym: "Abnormality of the wrist" EXACT layperson []
xref: UMLS:C4021744
is_a: HP:0009810 ! Abnormality of upper limb joint

[Term]
id: HP:0003020
name: Enlargement of the wrists
synonym: "Enlargement of the wrists" EXACT layperson []
xref: UMLS:C1838663
is_a: HP:0025798 ! Abnormal wrist morphology

[Term]
id: HP:0003021
name: Metaphyseal cupping
def: "Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1837082
is_a: HP:0000944 ! Abnormal metaphysis morphology

[Term]
id: HP:0003022
name: Hypoplasia of the ulna
alt_id: HP:0002998
alt_id: HP:0005842
alt_id: HP:0006388
alt_id: HP:0006444
def: "Underdevelopment of the ulna." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Hypoplastic ulna" EXACT []
synonym: "Short ulna" EXACT []
synonym: "Short ulnae" EXACT []
synonym: "Ulnar hypoplasia" EXACT []
synonym: "Underdeveloped inner large forearm bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Underdeveloped ulna" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1860614
xref: UMLS:C1862132
is_a: HP:0006495 ! Aplasia/Hypoplasia of the ulna
is_a: HP:0009821 ! Forearm undergrowth

[Term]
id: HP:0003023
name: Bowing of limbs due to multiple fractures
def: "Curvature of the shafts of the long bones due to multiple fractures." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bowed limbs due to multiple fractures" EXACT []
xref: UMLS:C1850178
is_a: HP:0002659 ! Increased susceptibility to fractures

[Term]
id: HP:0003025
name: Metaphyseal irregularity
alt_id: HP:0003017
alt_id: HP:0004995
alt_id: HP:0005016
alt_id: HP:0005032
alt_id: HP:0005038
alt_id: HP:0005058
alt_id: HP:0005062
alt_id: HP:0005065
alt_id: HP:0005078
alt_id: HP:0005896
def: "Irregularity of the normally smooth surface of the metaphyses." [https://orcid.org/0000-0002-0736-9199]
synonym: "Frayed, irregular metaphyses" EXACT []
synonym: "Frayed, irregular, metaphyses" EXACT []
synonym: "Irregular metaphyses" EXACT []
synonym: "Irregular wide portion of a long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Metaphyseal fraying" EXACT []
synonym: "Metaphyseal irregularities" EXACT []
xref: UMLS:C1838662
is_a: HP:0000944 ! Abnormal metaphysis morphology

[Term]
id: HP:0003026
name: Short long bone
alt_id: HP:0000949
alt_id: HP:0004983
alt_id: HP:0004988
alt_id: HP:0005000
alt_id: HP:0005029
alt_id: HP:0005044
alt_id: HP:0005052
alt_id: HP:0005077
alt_id: HP:0005083
alt_id: HP:0005647
alt_id: HP:0005822
alt_id: HP:0006382
alt_id: HP:0006457
alt_id: HP:0006472
def: "One or more abnormally short long bone." [https://orcid.org/0000-0002-0736-9199]
comment: Long bones are also known as tubular bones.
synonym: "Long bone shortening" EXACT layperson []
synonym: "Short long bone" EXACT layperson []
synonym: "Short tubular bones" EXACT []
synonym: "shortened long tubular bones" EXACT []
xref: UMLS:C1854912
is_a: HP:0011314 ! Abnormal long bone morphology

[Term]
id: HP:0003027
name: Mesomelia
def: "Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments." [https://orcid.org/0009-0006-4530-3154]
comment: Shortening of the limbs where the predominant shortness is in the middle bones.
synonym: "Disproportionately short middle portion of limb" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Mesomelic limb shortening" EXACT []
synonym: "Mesomelic shortening of limbs" EXACT []
synonym: "Symmetric mesomelic limb shortness" EXACT []
xref: UMLS:C0549306
is_a: HP:0009826 ! Limb undergrowth

[Term]
id: HP:0003028
name: Abnormality of the ankle
def: "An anomaly of the joint that connects the foot with the leg." []
subset: hposlim_core
synonym: "Abnormality of the ankles" EXACT plural_form []
xref: UMLS:C4025660
is_a: HP:0100491 ! Abnormality of lower limb joint

[Term]
id: HP:0003029
name: Enlargement of the ankles
synonym: "Enlargement of the ankles" EXACT layperson []
xref: UMLS:C1838664
is_a: HP:0034673 ! Abnormal ankle morphology

[Term]
id: HP:0003031
name: Ulnar bowing
alt_id: HP:0003983
def: "Bending of the diaphysis (shaft) of the ulna." [https://orcid.org/0000-0002-0736-9199]
comment: Ulnar bowing is usually in the convex posterior direction.
subset: hposlim_core
synonym: "Bowed ulna" EXACT []
synonym: "Curved ulna" EXACT []
synonym: "Curving of inner forearm bone" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1865847
is_a: HP:0003956 ! Bowed forearm bones
is_a: HP:0040071 ! Abnormal morphology of ulna

[Term]
id: HP:0003034
name: Diaphyseal sclerosis
alt_id: HP:0005611
def: "An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity." [https://orcid.org/0000-0002-0736-9199]
synonym: "Craniodiaphyseal osteosclerosis" EXACT []
synonym: "Diaphyseal osteosclerosis" EXACT []
synonym: "Increased bone density in shaft of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:318761000119105
xref: SNOMEDCT_US:34643004
xref: UMLS:C0011989
is_a: HP:0000940 ! Abnormal diaphysis morphology
is_a: HP:0006392 ! Increased density of long bones

[Term]
id: HP:0003037
name: Enlarged joints
def: "Increase in size of one or more joints." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Enlarged joints" EXACT layperson []
synonym: "Prominent joints" RELATED []
xref: UMLS:C1859111
is_a: HP:0001367 ! Abnormal joint morphology

[Term]
id: HP:0003038
name: Fibular hypoplasia
alt_id: HP:0002985
alt_id: HP:0005887
alt_id: HP:0006401
def: "Underdevelopment of the fibula." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Hypoplastic fibula" EXACT []
synonym: "Short calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Short fibula" EXACT []
synonym: "Short fibulae" EXACT []
xref: UMLS:C1832119
is_a: HP:0003026 ! Short long bone
is_a: HP:0006492 ! Aplasia/Hypoplasia of the fibula

[Term]
id: HP:0003040
name: Arthropathy
synonym: "Disease of the joints" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:399269003
xref: UMLS:C0022408
is_a: HP:0001367 ! Abnormal joint morphology

[Term]
id: HP:0003041
name: Humeroradial synostosis
alt_id: HP:0003936
def: "An abnormal osseous union (fusion) between the radius and the humerus." [https://orcid.org/0009-0006-4530-3154]
synonym: "Fusion of upper and lower arm bones" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Humeral radial synostosis" EXACT []
synonym: "Humeral-radial synostosis" EXACT []
synonym: "Radiohumeral synostosis of elbow" EXACT []
synonym: "Synostosis of radius and humerus" EXACT []
xref: SNOMEDCT_US:205329008
xref: UMLS:C1863360
xref: UMLS:C2930865
is_a: HP:0002818 ! Abnormal morphology of the radius
is_a: HP:0003938 ! Synostosis involving the elbow
is_a: HP:0031095 ! Abnormal humerus morphology
is_a: HP:0100744 ! Abnormality of the humeroradial joint

[Term]
id: HP:0003042
name: Elbow dislocation
alt_id: HP:0006411
def: "Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet." [https://orcid.org/0000-0002-0736-9199]
synonym: "Dislocations of the elbows" EXACT layperson []
synonym: "Elbow dislocation" EXACT layperson []
synonym: "Elbow dislocations" EXACT layperson []
synonym: "Radiocapitellar dislocation" EXACT []
synonym: "Radiohumeral dislocation" EXACT []
synonym: "Ulnohumeral dislocation" EXACT []
xref: SNOMEDCT_US:125617002
xref: SNOMEDCT_US:417558002
xref: UMLS:C1403299
xref: UMLS:C1403321
xref: UMLS:C2720437
is_a: HP:0009811 ! Abnormality of the elbow
is_a: HP:0030310 ! Upper extremity joint dislocation

[Term]
id: HP:0003043
name: Abnormal shoulder morphology
def: "An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the shoulder" EXACT layperson []
xref: UMLS:C4025659
is_a: HP:0000765 ! Abnormal thorax morphology
is_a: HP:0011844 ! Abnormal appendicular skeleton morphology

[Term]
id: HP:0003044
name: Shoulder flexion contracture
def: "Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:202265005
xref: UMLS:C0409336
is_a: HP:0034665 ! Shoulder contracture

[Term]
id: HP:0003045
name: Abnormal patella morphology
def: "Abnormality of the patella (knee cap)." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormal kneecap" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the patella" EXACT []
synonym: "Patellar abnormality" EXACT []
xref: UMLS:C4021743
is_a: HP:0034669 ! Abnormal knee morphology

[Term]
id: HP:0003048
name: Radial head subluxation
def: "Partial dislocation of the head of the radius." [https://orcid.org/0000-0002-0736-9199]
synonym: "Radial subluxation" EXACT []
synonym: "Radial-head subluxation" EXACT []
xref: SNOMEDCT_US:417109008
xref: SNOMEDCT_US:95854004
xref: UMLS:C0149977
is_a: HP:0032153 ! Joint subluxation

[Term]
id: HP:0003049
name: Ulnar deviation of the wrist
synonym: "Ulnar deviation of wrists" EXACT []
xref: SNOMEDCT_US:43689004
xref: UMLS:C0231678
is_a: HP:0025798 ! Abnormal wrist morphology

[Term]
id: HP:0003051
name: Enlarged metaphyses
alt_id: HP:0005018
def: "Abnormal increase in size of one or more metaphyses." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlarged wide portion of a long bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1855544
is_a: HP:0000944 ! Abnormal metaphysis morphology

[Term]
id: HP:0003053
name: Epiphyseal deformities of tubular bones
xref: UMLS:C1854786
is_a: HP:0005930 ! Abnormal epiphysis morphology

[Term]
id: HP:0003057
name: Tetraamelia
def: "Amelia of all four limbs." [https://orcid.org/0009-0006-4530-3154]
synonym: "Tetra-amelia" EXACT [https://orcid.org/0009-0006-4530-3154]
xref: SNOMEDCT_US:702313004
xref: UMLS:C2931216
is_a: HP:0009827 ! Amelia

[Term]
id: HP:0003059
name: Abnormality of the radioulnar joints
xref: UMLS:C4025658
is_a: HP:0002973 ! Abnormal forearm morphology

[Term]
id: HP:0003063
name: obsolete Abnormality of the humerus
is_obsolete: true
replaced_by: HP:0031095

[Term]
id: HP:0003065
name: Patellar hypoplasia
alt_id: HP:0005020
def: "Underdevelopment of the patella." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic patellae" EXACT []
synonym: "Small kneecap" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Small patella" EXACT []
synonym: "Small patellae" EXACT []
synonym: "Underdeveloped kneecap" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1840068
is_a: HP:0006498 ! Aplasia/Hypoplasia of the patella

[Term]
id: HP:0003066
name: Limited knee extension
def: "Reduced ability to extend (straighten) the knee joint." []
synonym: "Limited knee extension" EXACT layperson []
xref: UMLS:C1844690
is_a: HP:0010501 ! Limitation of knee mobility

[Term]
id: HP:0003067
name: Madelung deformity
def: "An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna." [https://orcid.org/0000-0002-0736-9199, PMID:12362035]
subset: hposlim_core
synonym: "Madelung wrist deformity" EXACT []
xref: SNOMEDCT_US:4530000
xref: UMLS:C0152441
is_a: HP:0025798 ! Abnormal wrist morphology

[Term]
id: HP:0003068
name: Madelung-like forearm deformities
xref: UMLS:C1851419
is_a: HP:0002818 ! Abnormal morphology of the radius

[Term]
id: HP:0003070
name: Elbow ankylosis
xref: SNOMEDCT_US:202307002
xref: UMLS:C0409477
is_a: HP:0009811 ! Abnormality of the elbow
is_a: HP:0031013 ! Ankylosis

[Term]
id: HP:0003071
name: Flattened epiphysis
alt_id: HP:0004982
alt_id: HP:0005051
alt_id: HP:0005076
alt_id: HP:0005080
def: "Abnormal flatness (decreased height) of epiphyses." [https://orcid.org/0000-0002-0736-9199]
synonym: "Flat end part of bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Flat epiphyses" EXACT []
xref: UMLS:C1857527
is_a: HP:0005930 ! Abnormal epiphysis morphology

[Term]
id: HP:0003072
name: Hypercalcemia
alt_id: HP:0008250
def: "An abnormally increased calcium concentration in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "High blood calcium levels" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Hypercalcaemia" EXACT []
synonym: "Increased calcium in blood" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:166702002
xref: SNOMEDCT_US:66931009
xref: UMLS:C0020437
is_a: HP:0004363 ! Abnormal circulating calcium concentration

[Term]
id: HP:0003073
name: Hypoalbuminemia
def: "Reduction in the concentration of albumin in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoalbuminaemia" EXACT []
synonym: "Low albumin" BROAD layperson []
synonym: "Low blood albumin" EXACT layperson []
xref: SNOMEDCT_US:119247004
xref: UMLS:C0239981
is_a: HP:0012116 ! Abnormal circulating albumin concentration

[Term]
id: HP:0003074
name: Hyperglycemia
def: "An increased concentration of glucose in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "High blood glucose" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "High blood sugar" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:237598005
xref: SNOMEDCT_US:80394007
xref: UMLS:C0020456
is_a: HP:0011015 ! Abnormal blood glucose concentration

[Term]
id: HP:0003075
name: Hypoproteinemia
def: "A decreased concentration of protein in the blood." [HPO_CONTRIBUTOR:gcarletti]
synonym: "Decreased protein levels in blood" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:8900005
xref: UMLS:C0020639
is_a: HP:0010876 ! Abnormal circulating protein concentration

[Term]
id: HP:0003076
name: Glycosuria
alt_id: HP:0003122
alt_id: HP:0011016
def: "An increased concentration of glucose in the urine." [HPO_CONTRIBUTOR:gcarletti]
comment: Glycosuria, the excretion of abnormal amounts of glucose in the urine, generally results in osmotic diuresis.
synonym: "Glucose in urine" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Glucosuria" EXACT []
xref: SNOMEDCT_US:45154002
xref: UMLS:C0017979
is_a: HP:6000531 ! Abnormal urinary organic compound level

[Term]
id: HP:0003077
name: Hyperlipidemia
alt_id: HP:0008159
alt_id: HP:0008356
def: "An elevated lipid concentration in the blood." [https://orcid.org/0000-0002-0736-9199]
comment: Hyperlipidemia is an elevation of the blood levels of lipids including primarily cholesterol, phospholipids and triglycerides and cholesterol esters. The lipids are transported on lipoproteins some of which are commonly used for clinical measurements, including chylomicrons, very-low density lipoproteins (VLDL), intermediate-density lipoproteins (IDL), low-density lipoproteins, and high-density lipoproteins (HDL).
synonym: "Elevated lipids in blood" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:55822004
xref: UMLS:C0020473
is_a: HP:0003119 ! Abnormal circulating lipid concentration

[Term]
id: HP:0003079
name: Defective DNA repair after ultraviolet radiation damage
xref: UMLS:C1968564
is_a: HP:0003254 ! Abnormality of DNA repair

[Term]
id: HP:0003080
name: Hydroxyprolinuria
def: "An increased concentration of 4-hydroxy-L-proline in the urine." [HPO_CONTRIBUTOR:gcarletti]
synonym: "Elevated urinary hydroxyproline" EXACT layperson []
xref: UMLS:C0948585
is_a: HP:0033098 ! Increased urinary non-proteinogenic amino acid level

[Term]
id: HP:0003081
name: Increased urinary potassium
def: "An increased concentration of potassium(1+) in the urine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hyperkaliuresis" EXACT []
synonym: "Increased urinary K" EXACT abbreviation []
synonym: "Increased urinary potassium" EXACT layperson []
xref: UMLS:C1846351
is_a: HP:0012598 ! Abnormal urine potassium concentration

[Term]
id: HP:0003083
name: Dislocated radial head
alt_id: HP:0002975
alt_id: HP:0005673
alt_id: HP:0005836
def: "A dislocation of the head of the radius from its socket in the elbow joint." [https://orcid.org/0000-0002-0736-9199]
synonym: "Congenital radial head dislocation" EXACT []
synonym: "Dislocated radial heads" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Dislocated radius" EXACT []
synonym: "Dislocation of radial head" EXACT []
synonym: "Dislocation of the radial head" EXACT []
synonym: "Radial dislocation" EXACT []
synonym: "Radial head dislocation" EXACT []
synonym: "Radial head dislocation/subluxation" EXACT []
xref: SNOMEDCT_US:9634000
xref: UMLS:C0265563
is_a: HP:0003042 ! Elbow dislocation
is_a: HP:0003995 ! Abnormality of the radial head
is_a: HP:0100744 ! Abnormality of the humeroradial joint

[Term]
id: HP:0003084
name: Recurrent long bone fractures
alt_id: HP:0005847
def: "An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fractures of the long bones" EXACT []
synonym: "Increased long bone fracture rate" EXACT []
xref: UMLS:C0240231
is_a: HP:0002757 ! Recurrent fractures
is_a: HP:0025736 ! Long-bone fracture

[Term]
id: HP:0003085
name: Long fibula
def: "Disproportionately long fibulae." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Disproportionately long fibula" EXACT []
synonym: "Long calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Long fibula" EXACT layperson []
xref: UMLS:C1848109
is_a: HP:0002991 ! Abnormal fibula morphology

[Term]
id: HP:0003086
name: Acromesomelia
def: "Small hands and feet." [https://orcid.org/0000-0002-0736-9199, PMID:22286749]
xref: UMLS:C1864365
is_a: HP:0003027 ! Mesomelia

[Term]
id: HP:0003088
name: Premature osteoarthritis
synonym: "Premature arthritis" EXACT layperson []
synonym: "Premature osteoarthritis" EXACT layperson []
xref: UMLS:C1835121
is_a: HP:0002758 ! Osteoarthritis

[Term]
id: HP:0003089
name: Hamstring contractures
synonym: "Hamstring contractures" EXACT layperson []
xref: SNOMEDCT_US:203074005
xref: UMLS:C0410266
is_a: HP:0005750 ! Lower-limb joint contracture

[Term]
id: HP:0003090
name: Hypoplasia of the capital femoral epiphysis
alt_id: HP:0003374
alt_id: HP:0008791
alt_id: HP:0008792
def: "Underdevelopment of the proximal epiphysis of the femur." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small capital femoral epiphyses" EXACT []
synonym: "Small femoral capital epiphyses" EXACT []
synonym: "Small innermost thighbone end part" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Small proximal femoral epiphyses" EXACT []
synonym: "Underdevelopment of the innermost thighbone end part" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1839254
is_a: HP:0005003 ! Aplasia/Hypoplasia of the capital femoral epiphysis

[Term]
id: HP:0003091
name: Trophic limb changes
def: "Trophic changes occurring in a limb." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025657
is_a: HP:0010834 ! Trophic changes related to pain

[Term]
id: HP:0003093
name: Limited hip extension
alt_id: HP:0008810
def: "Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward." [https://orcid.org/0000-0002-0736-9199]
comment: Reduced ability to straighten out the femur.
synonym: "Limited hip extension" EXACT layperson []
synonym: "Restricted hip extension" EXACT layperson []
xref: UMLS:C3553368
is_a: HP:0008800 ! Limited hip movement

[Term]
id: HP:0003095
name: Septic arthritis
synonym: "Infected joint" BROAD layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:372939007
xref: SNOMEDCT_US:396234004
xref: UMLS:C0003869
xref: UMLS:C4280547
is_a: HP:0001369 ! Arthritis
property_value: terms:creator https://orcid.org/0000-0002-5316-1399

[Term]
id: HP:0003097
name: Short femur
alt_id: HP:0009749
def: "An abnormal shortening of the femur." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Femoral hypoplasia" EXACT []
synonym: "Hypoplasia of the femora" EXACT []
synonym: "Short femurs" EXACT []
synonym: "Short thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:93255008
xref: UMLS:C0345375
is_a: HP:0003026 ! Short long bone
is_a: HP:0005613 ! Aplasia/hypoplasia of the femur

[Term]
id: HP:0003099
name: Fibular overgrowth
def: "Relatively increased growth of the fibula compared to that of the tibia." [https://orcid.org/0000-0002-0736-9199, PMID:17259417]
synonym: "Overgrowth of calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1864298
is_a: HP:0002991 ! Abnormal fibula morphology

[Term]
id: HP:0003100
name: Slender long bone
alt_id: HP:0003060
alt_id: HP:0003061
alt_id: HP:0003096
alt_id: HP:0005064
def: "Reduced diameter of a long bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Gracile long bones" EXACT []
synonym: "Long bones slender" EXACT layperson []
synonym: "Slender long bone" EXACT layperson []
synonym: "Slender long bones" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Slender, gracile long tubular bones" EXACT []
synonym: "Thin gracile long bones" RELATED []
synonym: "Thin long bones" EXACT layperson []
synonym: "Thin, gracile long bones" EXACT []
xref: UMLS:C1833144
is_a: HP:0011314 ! Abnormal long bone morphology

[Term]
id: HP:0003102
name: Increased carrying angle
def: "An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm." [https://orcid.org/0000-0002-0736-9199, PMID:18506557]
comment: Anatomically, the carrying angle in human adults is approximately 10 degrees in men and 13 degrees in women. Increasing the carrying angle may lead to elbow instability and pain during exercise or in throwing activities of sports, may reduce function of elbow flexion, predispose to risk of elbow dislocation, and increase evidence of elbow fracture when falling on the outstretched hand and fracture of the distal humeral epiphysis.
xref: UMLS:C1855478
is_a: HP:0009811 ! Abnormality of the elbow

[Term]
id: HP:0003103
name: Abnormal cortical bone morphology
def: "An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones." [https://orcid.org/0009-0006-4530-3154]
synonym: "Abnormal compact bone morphology" EXACT []
synonym: "Abnormality of cortical bone" EXACT []
xref: UMLS:C4021741
is_a: HP:0003330 ! Abnormal bone structure

[Term]
id: HP:0003105
name: Protuberances at ends of long bones
def: "The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Protuberances at ends of long bones" EXACT layperson []
xref: UMLS:C1851418
is_a: HP:0011314 ! Abnormal long bone morphology

[Term]
id: HP:0003106
name: Subperiosteal bone resorption
def: "Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone." [PMID:24849102]
synonym: "Subperiosteal erosions" EXACT []
xref: UMLS:C1848541
is_a: HP:0002813 ! Abnormal limb bone morphology

[Term]
id: HP:0003107
name: Abnormal circulating cholesterol concentration
alt_id: HP:0003464
def: "Any deviation from the normal concentration of cholesterol in the blood circulation." []
synonym: "Abnormal cholesterol homeostasis" EXACT []
synonym: "Abnormality of cholesterol metabolism" EXACT layperson []
xref: UMLS:C4025656
is_a: HP:0003119 ! Abnormal circulating lipid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-17T01:02:00Z

[Term]
id: HP:0003108
name: Hyperglycinuria
alt_id: HP:0002931
def: "An increased concentration of glycine in the urine." [HPO_CONTRIBUTOR:gcarletti, PMID:18901181, PMID:20240447]
comment: Normal urinary glycine total (free and combined form) excretion is around 450 mg per 24 hours.
synonym: "Glycinuria" EXACT []
synonym: "High urine glycine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:236477004
xref: UMLS:C0341706
xref: UMLS:C0543541
is_a: HP:0033099 ! Increased serine family amino acid in urine

[Term]
id: HP:0003109
name: Hyperphosphaturia
alt_id: HP:0003266
def: "An increased excretion of phosphates in the urine." [https://orcid.org/0000-0002-0736-9199]
synonym: "High urine phosphate levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Phosphaturia" EXACT []
xref: SNOMEDCT_US:22450000
xref: UMLS:C0268079
xref: UMLS:C0948023
is_a: HP:0012599 ! Abnormal urine phosphate concentration

[Term]
id: HP:0003110
name: Abnormality of urine homeostasis
alt_id: HP:0011865
alt_id: HP:0011866
def: "An abnormality of the composition of urine or the levels of its components." [https://orcid.org/0000-0002-0736-9199]
synonym: "Pee issues" EXACT layperson []
synonym: "Urine issues" EXACT layperson []
xref: UMLS:C4025655
is_a: HP:0001939 ! Abnormality of metabolism/homeostasis
is_a: HP:0011277 ! Abnormality of the urinary system physiology

[Term]
id: HP:0003111
name: Abnormal blood ion concentration
alt_id: HP:0003253
def: "Abnormality of the homeostasis (concentration) of a monoatomic ion." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of ion homeostasis" EXACT []
synonym: "Electrolyte disorders" EXACT layperson []
synonym: "Electrolyte disturbance" EXACT []
xref: SNOMEDCT_US:237840007
xref: UMLS:C1704431
xref: UMLS:C4025654
is_a: HP:0032180 ! Abnormal circulating metabolite concentration

[Term]
id: HP:0003112
name: Abnormal circulating amino acid concentration
def: "The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of serum amino acid level" EXACT []
synonym: "Abnormality of serum amino acid levels" EXACT layperson []
xref: UMLS:C4025653
is_a: HP:0004354 ! Abnormal circulating carboxylic acid concentration

[Term]
id: HP:0003113
name: Hypochloremia
def: "An abnormally decreased chloride concentration in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Low blood chloride levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:10399008
xref: UMLS:C0085680
xref: UMLS:C0595901
is_a: HP:0011422 ! Abnormal blood chloride concentration

[Term]
id: HP:0003114
name: obsolete Abnormal cardiological findings
is_obsolete: true
replaced_by: HP:0001626

[Term]
id: HP:0003115
name: Abnormal EKG
def: "Abnormal rhythm of the heart." []
synonym: "Abnormal ECG" EXACT layperson []
synonym: "Abnormal EKG" EXACT layperson []
synonym: "Abnormal electrocardiogram" EXACT []
synonym: "EKG abnormality" EXACT abbreviation []
xref: SNOMEDCT_US:102594003
xref: UMLS:C0522055
is_a: HP:0030956 ! Abnormality of cardiovascular system electrophysiology

[Term]
id: HP:0003116
name: obsolete Abnormal echocardiogram
is_obsolete: true
replaced_by: HP:0001626

[Term]
id: HP:0003117
name: Abnormal circulating hormone concentration
def: "Concentration of a hormone in the blood circulation outside of normal limits." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal circulating hormone level" EXACT []
synonym: "Abnormality of circulating hormone level" EXACT layperson []
xref: UMLS:C4025652
is_a: HP:0000818 ! Abnormality of the endocrine system

[Term]
id: HP:0003118
name: Increased circulating cortisol level
alt_id: HP:0000850
alt_id: HP:0001578
alt_id: HP:0004316
def: "Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features." [https://orcid.org/0000-0002-0538-4547]
synonym: "Cushing syndrome" EXACT []
synonym: "Hypercortisolism" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Increased circulating cortisol level" EXACT layperson []
synonym: "Increased cortisol production" EXACT []
xref: SNOMEDCT_US:237735008
xref: SNOMEDCT_US:275437005
xref: SNOMEDCT_US:47270006
xref: UMLS:C0001622
xref: UMLS:C0342443
xref: UMLS:C4025651
is_a: HP:0002717 ! Adrenal overactivity
is_a: HP:0011731 ! Abnormality of circulating cortisol level

[Term]
id: HP:0003119
name: Abnormal circulating lipid concentration
alt_id: HP:0003611
def: "Any deviation from the normal concentration of a lipid in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
comment: According to CHEBI:18059 'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids.
synonym: "Dyslipidaemia" RELATED uk_spelling []
synonym: "Dyslipidemia" RELATED []
xref: SNOMEDCT_US:370992007
xref: UMLS:C0242339
xref: UMLS:C4025650
is_a: HP:0430071 ! Abnormal circulating organic compound concentration

[Term]
id: HP:0003121
name: Limb joint contracture
alt_id: HP:0005631
alt_id: HP:0005839
def: "A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Limb contractures" EXACT layperson []
xref: UMLS:C1969879
is_a: HP:0001371 ! Flexion contracture

[Term]
id: HP:0003124
name: Hypercholesterolemia
alt_id: HP:0008154
alt_id: HP:0008173
alt_id: HP:0008359
def: "An increased concentration of cholesterol in the blood." [HPO_CONTRIBUTOR:gcarletti]
synonym: "Elevated serum cholesterol" EXACT layperson []
synonym: "Elevated total cholesterol" EXACT layperson []
synonym: "High cholesterol" BROAD layperson []
synonym: "Increased total cholesterol" EXACT layperson []
xref: SNOMEDCT_US:13644009
xref: SNOMEDCT_US:166830008
xref: UMLS:C0020443
xref: UMLS:C0595929
is_a: HP:0003107 ! Abnormal circulating cholesterol concentration

[Term]
id: HP:0003125
name: Reduced factor VIII activity
alt_id: HP:0008349
alt_id: HP:0008355
def: "Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X." [https://orcid.org/0000-0002-0736-9199]
synonym: "Factor VIII deficiency" RELATED []
xref: SNOMEDCT_US:234440005
xref: UMLS:C3494187
xref: UMLS:C4025649
is_a: HP:0030976 ! Abnormal factor VIII activity

[Term]
id: HP:0003126
name: Low-molecular-weight proteinuria
def: "Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD)." [PMID:95574]
synonym: "Tubular proteinuria" EXACT []
xref: UMLS:C1839606
is_a: HP:0000093 ! Proteinuria

[Term]
id: HP:0003127
name: Hypocalciuria
def: "An abnormally decreased calcium concentration in the urine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Low urine calcium levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:86353007
xref: UMLS:C0020599
is_a: HP:0011280 ! Abnormality of urine calcium concentration

[Term]
id: HP:0003128
name: Lactic acidosis
alt_id: HP:0003255
alt_id: HP:0005960
def: "An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids." [https://orcid.org/0000-0002-0736-9199]
comment: Note that the term acidemia is used to describe the state of low pH in the blood, whereas acidosis is used to describe the processes that lead to acidemia. In medical jargon, however, the two terms are used interchangeably.
synonym: "Hyperlacticacidemia" EXACT []
synonym: "Increased lactate in body" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Lactic acidemia" EXACT []
synonym: "Lacticacidemia" EXACT []
synonym: "Lacticacidosis" EXACT []
xref: SNOMEDCT_US:190882007
xref: SNOMEDCT_US:91273001
xref: UMLS:C0001125
xref: UMLS:C0347959
is_a: HP:0001941 ! Acidosis

[Term]
id: HP:0003130
name: Abnormal peripheral myelination
alt_id: HP:0003408
def: "An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense." [HPO_CONTRIBUTOR:jbaets, https://orcid.org/0000-0002-9102-5232]
comment: This finding may be observed upon biopsy of the sural nerve. Myelination, i.e., the presence of a segmented lipid-rich sheath (myelin), enables faster and more energetically efficient conduction of electrical impulses. The sheath is formed by the cell membranes of Schwann cells in the peripheral nervous system (GO:0022011).
xref: UMLS:C4025648
is_a: HP:0000759 ! Abnormal peripheral nervous system morphology
is_a: HP:0012447 ! Abnormal myelination

[Term]
id: HP:0003131
name: Cystinuria
def: "An increased concentration of cystine in the urine." [HPO_CONTRIBUTOR:gcarletti]
comment: Cystine is a sulfur-containing amino acid.
synonym: "High urine cystine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Nitroprusside-cyanide urine test positive" RELATED []
xref: SNOMEDCT_US:85020001
xref: UMLS:C0010691
is_a: HP:0033095 ! Increased sulfur amino acid level in urine

[Term]
id: HP:0003133
name: Abnormality of the spinocerebellar tracts
def: "An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025647
is_a: HP:0002143 ! Abnormal spinal cord morphology

[Term]
id: HP:0003134
name: Abnormality of peripheral nerve conduction
alt_id: HP:0006832
alt_id: HP:0007186
def: "An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS)." [https://orcid.org/0000-0002-0736-9199]
comment: A nerve conduction study (NCS) is commonly conducted together with electromyography in order to evaluate muscle disorders. For the NCS, dermal electrodes are placed at intervals over the nerve to be examined, and a low-intensity current is introduced to generate action potentials. The velocity of the action potential is related to the diameter of the nerve fiber and the presence of a myelin sheath. Diseases of the myelin sheath characteristically reduce the nerve conduction velocity (NCV). The amplitude of the response is also measured.
synonym: "Abnormal peripheral nerve transmission" RELATED []
synonym: "Sensory and motor nerve conduction abnormalities" EXACT []
xref: UMLS:C4020690
is_a: HP:0030177 ! Abnormality of peripheral nervous system electrophysiology

[Term]
id: HP:0003137
name: Prolinuria
def: "Level of proline in the urine anove the upper limit of normal." [https://orcid.org/0000-0002-0736-9199]
comment: Normal urinary proline total (free and combined form) excretion is around 40 mg per 24 hours.
synonym: "Proline high in urine" EXACT []
xref: SNOMEDCT_US:53124003
xref: UMLS:C0268534
is_a: HP:0033100 ! Increased proteinogenic amino acid level in urine

[Term]
id: HP:0003138
name: Increased blood urea nitrogen
def: "An increased amount of nitrogen in the form of urea in the blood." [HPO_CONTRIBUTOR:gcarletti]
synonym: "Increased blood urea nitrogen" EXACT layperson []
synonym: "Increased BUN" EXACT abbreviation []
xref: UMLS:C0151539
is_a: HP:0002157 ! Azotemia
is_a: HP:0031970 ! Abnormal blood urea nitrogen concentration

[Term]
id: HP:0003139
name: Panhypogammaglobulinemia
def: "A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes." [PMID:23726535]
synonym: "Panhypogammaglobulinaemia" EXACT uk_spelling []
synonym: "Panypogammaglobulinemia" EXACT []
xref: UMLS:C1328587
is_a: HP:0004313 ! Decreased circulating immunoglobulin concentration

[Term]
id: HP:0003140
name: T-wave inversion in the right precordial leads
xref: UMLS:C4025646
is_a: HP:0010872 ! T-wave inversion

[Term]
id: HP:0003141
name: Increased LDL cholesterol concentration
alt_id: HP:0008343
def: "An elevated concentration of low-density lipoprotein cholesterol in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hyperbetalipoproteinemia" EXACT []
synonym: "Increased beta-lipoproteins" EXACT []
synonym: "Increased circulating LDL level" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Increased circulating low-density lipoprotein cholesterol" EXACT []
synonym: "Increased circulating low-density lipoprotein levels" EXACT []
synonym: "Increased LDL cholesterol" EXACT layperson []
synonym: "Increased LDLc concentration" EXACT abbreviation []
synonym: "Increased plasma LDL levels" EXACT abbreviation []
xref: SNOMEDCT_US:190773008
xref: SNOMEDCT_US:398036000
xref: UMLS:C0020445
xref: UMLS:C0549399
is_a: HP:0010980 ! Hyperlipoproteinemia
is_a: HP:0031886 ! Abnormal LDL cholesterol concentration

[Term]
id: HP:0003142
name: Excessive purine production
xref: UMLS:C4025645
is_a: HP:0012337 ! Abnormal homeostasis

[Term]
id: HP:0003144
name: Increased serum serotonin
def: "A increased concentration of serotonin in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased serum serotonin" EXACT layperson []
xref: UMLS:C0877243
is_a: HP:0003117 ! Abnormal circulating hormone concentration

[Term]
id: HP:0003145
name: Decreased circulating adenosylcobalamin concentration
def: "The concentration of adenosylcobalam in the blood circulation is below the lower limit of normal. Adenosylcobalamin is one of the active forms of vitamin B12." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased ADOCBL" EXACT []
xref: UMLS:C1848556
is_a: HP:0040126 ! Abnormal circulating vitamin B12 concentration

[Term]
id: HP:0003146
name: Hypocholesterolemia
def: "An decreased concentration of cholesterol in the blood." [HPO_CONTRIBUTOR:gcarletti]
synonym: "Decreased circulating cholesterol level" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:61336008
xref: UMLS:C0151718
is_a: HP:0003107 ! Abnormal circulating cholesterol concentration

[Term]
id: HP:0003148
name: Elevated serum acid phosphatase
comment: Acid phosphatase can free attached phosphate groups from other molecules. It is a lysosomal enzyme.
synonym: "Acid phosphatase elevated" EXACT layperson []
synonym: "Elevated serum acid phosphatase" EXACT layperson []
xref: UMLS:C1839866
is_a: HP:0004356 ! Abnormality of lysosomal metabolism

[Term]
id: HP:0003149
name: Hyperuricosuria
alt_id: HP:0012611
def: "An abnormally high level of uric acid in the urine." [https://orcid.org/0000-0002-0736-9199]
comment: Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid. Uric acid is the final oxidation product of purine catabolism.
synonym: "High urine uric acid level" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Increased urinary urate" EXACT []
xref: UMLS:C0948643
is_a: HP:0012610 ! Abnormality of urinary uric acid level

[Term]
id: HP:0003150
name: Glutaric aciduria
alt_id: HP:0003490
def: "The concentration of glutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal." [HPO_CONTRIBUTOR:gcarletti]
synonym: "Glutarate aciduria" EXACT [https://orcid.org/0000-0001-9969-8610]
synonym: "Glutaricaciduria" EXACT []
synonym: "Increased glutarate level in urine" EXACT [CHEBI:24329, https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:28987007
xref: UMLS:C0268594
is_a: HP:0003215 ! Dicarboxylic aciduria

[Term]
id: HP:0003152
name: obsolete Increased serum 1,25-dihydroxyvitamin D3
is_obsolete: true
replaced_by: HP:0031415

[Term]
id: HP:0003153
name: Cystathioninuria
def: "An elevated urinary concentration of cystathionine." [https://orcid.org/0000-0002-0736-9199]
comment: Cystathionine can be directly interconverted to cysteine. Normal cystathione urinary values are under 150 micromole per gram creatinine.
synonym: "High urine cystathionine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:13003007
xref: UMLS:C0220993
is_a: HP:0033098 ! Increased urinary non-proteinogenic amino acid level

[Term]
id: HP:0003154
name: Increased circulating ACTH level
def: "An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "High blood corticotropin levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Increased circulating ACTH level" EXACT layperson []
synonym: "Increased plasma ACTH" EXACT []
xref: UMLS:C4021740
is_a: HP:0011043 ! Abnormal circulating adrenocorticotropin concentration

[Term]
id: HP:0003155
name: Elevated circulating alkaline phosphatase concentration
alt_id: HP:0002911
alt_id: HP:0003636
alt_id: HP:0008296
def: "Abnormally increased serum levels of alkaline phosphatase activity." [https://orcid.org/0000-0002-0736-9199, PMID:29083622]
synonym: "Elevated alkaline phosphatase" EXACT layperson []
synonym: "Elevated ALP" EXACT abbreviation []
synonym: "Greatly elevated alkaline phosphatase" EXACT layperson []
synonym: "High serum alkaline phosphatase" EXACT layperson []
synonym: "Hyperphosphatasemia" EXACT []
synonym: "Hyperphosphatasia" EXACT [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased alkaline phosphatase" EXACT layperson []
synonym: "Increased serum alkaline phosphatase" EXACT layperson []
xref: UMLS:C0750857
is_a: HP:0004379 ! Abnormality of alkaline phosphatase level

[Term]
id: HP:0003158
name: Hyposthenuria
def: "An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine." [https://orcid.org/0000-0002-0736-9199]
comment: Hyposthenuria may occur with impaired renal concentrating power or upon abnormally low hormonal stimulation, as in diabetes insipidus.
synonym: "Reduced urinary osmolality" EXACT []
xref: SNOMEDCT_US:76023003
xref: UMLS:C0232831
is_a: HP:0033358 ! Abnormal urine osmolality

[Term]
id: HP:0003159
name: Hyperoxaluria
def: "Increased excretion of oxalates in the urine." [https://orcid.org/0000-0002-0736-9199]
synonym: "High urine oxalate levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Increased level of oxalate in urine" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-9969-8610, PMID:11135054]
xref: SNOMEDCT_US:367621000119107
xref: UMLS:C0020500
is_a: HP:0001992 ! Organic aciduria

[Term]
id: HP:0003160
name: Abnormal isoelectric focusing of serum transferrin
def: "Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded." [https://orcid.org/0000-0002-0736-9199, PMID:22516080]
comment: Human serum transferrin has two N-glycosylation sites, which are normally both fully occupied by disialylated biantennary glycans to generate tetrasialotransferrin.
synonym: "Abnormal isoelectric focusing of transferrin" EXACT []
synonym: "Abnormal transferrin isoelectric focusing" EXACT []
xref: UMLS:C2749688
is_a: HP:0012347 ! Abnormal protein N-linked glycosylation

[Term]
id: HP:0003161
name: 4-Hydroxyphenylpyruvic aciduria
def: "Increased relative concentration of 4-hydroxyphenylpyruvic acid in the urine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hydroxyphenylpyruvic aciduria" EXACT []
xref: UMLS:C1848678
is_a: HP:0040156 ! Elevated urinary carboxylic acid

[Term]
id: HP:0003162
name: Fasting hypoglycemia
synonym: "Low blood sugar when fasting" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:6974005
xref: UMLS:C0271708
is_a: HP:0001943 ! Hypoglycemia

[Term]
id: HP:0003163
name: Elevated urinary delta-aminolevulinic acid
def: "An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine." [https://orcid.org/0000-0002-0736-9199]
comment: Delta-aminolevulinic acid synthesis is a rate-controlling step in heme synthesis.
synonym: "Elevated urinary delta-aminolevulinic acid" EXACT layperson []
xref: UMLS:C1848702
is_a: HP:6000531 ! Abnormal urinary organic compound level

[Term]
id: HP:0003164
name: Hypothalamic gonadotropin-releasing hormone deficiency
synonym: "Hypothalamic GNRH deficiency" EXACT []
xref: UMLS:C4025644
is_a: HP:0012285 ! Abnormal hypothalamus physiology
is_a: HP:0500012 ! Abnormal gonadotropin-releasing hormone concentration

[Term]
id: HP:0003165
name: Elevated circulating parathyroid hormone level
def: "An abnormal increased concentration of parathyroid hormone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Elevated circulating PTH level" EXACT []
synonym: "Elevated serum parathyroid hormone" EXACT []
synonym: "Elevated serum parathyroid hormone level" EXACT []
synonym: "Elevated serum pth" EXACT []
synonym: "Increased serum parathyroid hormone" EXACT []
xref: UMLS:C0857973
is_a: HP:0100530 ! Abnormal circulating calcium-phosphate regulating hormone concentration

[Term]
id: HP:0003166
name: Increased urinary taurine
def: "Increased concentration of taurine in the urine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased urinary taurine" EXACT layperson []
xref: UMLS:C3806447
is_a: HP:0033097 ! Increased urine proteinogenic amino acid derivative level

[Term]
id: HP:0003167
name: Carnosinuria
def: "An increased concentration of carnosine in the urine." [https://orcid.org/0000-0002-0736-9199]
comment: Carnosine is the N-(beta-alanyl) derivative of L-histidine.
synonym: "High urine carnosine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:410051001
xref: UMLS:C3495558
is_a: HP:0033097 ! Increased urine proteinogenic amino acid derivative level

[Term]
id: HP:0003168
name: Dibasicaminoaciduria
def: "An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually referred to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His)." []
xref: UMLS:C4025643
is_a: HP:0033100 ! Increased proteinogenic amino acid level in urine

[Term]
id: HP:0003170
name: Abnormal acetabulum morphology
def: "An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the acetabulum" EXACT []
synonym: "Abnormality of the hipbone socket" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Acetabular abnormality" EXACT []
xref: UMLS:C4021739
is_a: HP:0001384 ! Abnormal hip joint morphology

[Term]
id: HP:0003172
name: Abnormal pubic bone morphology
def: "An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (pubis, ilium, ischium) of the hip bone." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the pubic bone" EXACT layperson []
synonym: "Abnormality of the pubic bones" EXACT layperson []
synonym: "Abnormality of the pubis" EXACT layperson []
xref: UMLS:C4021738
is_a: HP:0003272 ! Abnormal hip bone morphology

[Term]
id: HP:0003173
name: Hypoplastic pubic bone
def: "Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic pubic bones" EXACT plural_form []
synonym: "Hypoplastic pubis" EXACT []
xref: UMLS:C1865030
is_a: HP:0009104 ! Aplasia/Hypoplasia of the pubic bone

[Term]
id: HP:0003174
name: Abnormal ischium morphology
def: "An anomaly of the ischium, which forms the lower and back part of the hip bone." [https://orcid.org/0000-0002-0736-9199]
comment: The ischium, together with the ilium and the pubis, forms the hip bone (os coxae).
synonym: "Abnormality of the ischial bones" EXACT []
synonym: "Abnormality of the ischium" EXACT []
synonym: "Anomaly of the ischium" EXACT []
xref: SNOMEDCT_US:93008005
xref: UMLS:C0685661
is_a: HP:0003272 ! Abnormal hip bone morphology

[Term]
id: HP:0003175
name: Hypoplastic ischia
def: "Underdevelopment of the ischium, which forms the lower and back part of the hip bone." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Hypoplastic ischial bones" EXACT []
synonym: "Hypoplastic ischii" EXACT []
synonym: "Hypoplastic ischium" EXACT []
xref: UMLS:C1859447
is_a: HP:0003174 ! Abnormal ischium morphology

[Term]
id: HP:0003177
name: Squared iliac bones
def: "A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance." [https://orcid.org/0000-0002-0736-9199]
synonym: "Square iliac bones" EXACT []
synonym: "Squaring of iliac bones" EXACT []
xref: UMLS:C1838186
is_a: HP:0002867 ! Abnormal ilium morphology

[Term]
id: HP:0003179
name: Protrusio acetabuli
def: "Intrapelvic bulging of the medial acetabular wall." [https://orcid.org/0000-0002-0736-9199]
comment: Protrusion of the acetabulum, which is the socket that together with the head of the femur forms the hip joint. The protrusion is the result of increased depth of the socket and results in medial displacement of the femoral head.
subset: hposlim_core
synonym: "Abnormally indented hip sockets" EXACT layperson []
synonym: "Acetabular protrusion" EXACT []
synonym: "Protrusio acetabulae" EXACT []
xref: SNOMEDCT_US:59606006
xref: UMLS:C0409495
is_a: HP:0003170 ! Abnormal acetabulum morphology

[Term]
id: HP:0003180
name: Flat acetabular roof
alt_id: HP:0003171
alt_id: HP:0008832
alt_id: HP:0008834
def: "Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Acetabular angle flat" EXACT []
synonym: "Flat acetabular roofs" EXACT []
synonym: "Flattened acetabular roof" EXACT []
synonym: "Horizontal acetabulae" EXACT []
synonym: "Horizontal acetabular roof" EXACT []
synonym: "Horizontal acetabular roofs" EXACT []
xref: UMLS:C1837485
is_a: HP:0003170 ! Abnormal acetabulum morphology

[Term]
id: HP:0003182
name: Shallow acetabular fossae
synonym: "Shallow acetabula" EXACT []
synonym: "Shallow acetabulae" EXACT []
synonym: "Shallow acetabular fossa" EXACT []
synonym: "Shallow acetabulum" EXACT []
xref: UMLS:C1854910
xref: UMLS:C1860796
is_a: HP:0003170 ! Abnormal acetabulum morphology

[Term]
id: HP:0003183
name: Wide pubic symphysis
def: "Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Wide symphysis of pubis" EXACT []
xref: UMLS:C1857190
is_a: HP:0003172 ! Abnormal pubic bone morphology

[Term]
id: HP:0003184
name: Decreased hip abduction
def: "Reduced ability to move the femur outward to the side." [https://orcid.org/0000-0002-0736-9199]
synonym: "Limited hip abduction" EXACT []
xref: UMLS:C1836589
is_a: HP:0008800 ! Limited hip movement

[Term]
id: HP:0003185
name: Short greater sciatic notch
alt_id: HP:0008815
def: "The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch." [https://orcid.org/0000-0002-0736-9199]
synonym: "Short sacroiliac notch" EXACT []
synonym: "Shortened sacroiliac notches" EXACT []
synonym: "Small sacroiliac notch" EXACT []
xref: UMLS:C1866689
is_a: HP:0010456 ! Abnormal greater sciatic notch morphology

[Term]
id: HP:0003186
name: Inverted nipples
def: "The presence of nipples that instead of pointing outward are retracted inwards." [https://orcid.org/0009-0006-4530-3154]
synonym: "Invaginated nipples" EXACT [https://orcid.org/0000-0002-0736-9199]
synonym: "Inverted nipples" EXACT layperson []
xref: SNOMEDCT_US:82231009
xref: UMLS:C0269269
is_a: HP:0004404 ! Abnormal nipple morphology

[Term]
id: HP:0003187
name: Breast hypoplasia
alt_id: HP:0000784
def: "Underdevelopment of the breast." [https://orcid.org/0000-0002-0736-9199]
synonym: "Underdeveloped breasts" EXACT layperson []
xref: SNOMEDCT_US:8915006
xref: UMLS:C0266013
is_a: HP:0010311 ! Aplasia/Hypoplasia of the breasts

[Term]
id: HP:0003189
name: Long nose
alt_id: HP:0005283
alt_id: HP:0200142
def: "Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base." [PMID:19152422]
synonym: "Elongated nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased height of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased length of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased nasal height" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased nasal length" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Long nose" EXACT layperson []
synonym: "Nasal elongation" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1839798
is_a: HP:0005105 ! Abnormal nasal morphology

[Term]
id: HP:0003191
name: Cleft ala nasi
alt_id: HP:0004412
def: "The presence of a notch in the margin of the ala nasi." [https://orcid.org/0000-0002-0736-9199, PMID:19152422]
comment: The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a cleft ala nasi, but have a severely Underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted. The term coloboma has been replaced because a coloboma is a remnant of a physiologically occurring discontinuity of tissue; the alae nasi do not have such a discontinuity.
synonym: "Ala nasi, cleft" EXACT []
synonym: "Alar clefts" EXACT []
synonym: "Cleft nasal alae" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Cleft nostril" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Nostril coloboma" RELATED []
synonym: "Notched nasal alae" EXACT []
xref: UMLS:C1844537
is_a: HP:0000429 ! Abnormal morphology of the nasal alae

[Term]
id: HP:0003193
name: Allergic rhinitis
def: "It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea." [PMID:11449200]
synonym: "Hay fever" EXACT layperson []
synonym: "Hayfever" EXACT layperson []
synonym: "Nasal allergies" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:61582004
xref: UMLS:C0847614
xref: UMLS:C2607914
is_a: HP:0012384 ! Rhinitis
is_a: HP:0012393 ! Allergy

[Term]
id: HP:0003194
name: Short nasal bridge
def: "Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose." []
synonym: "Decreased length of bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased length of nasal bridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Short bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Short nasal bridge" EXACT layperson []
xref: UMLS:C1854689
is_a: HP:0000422 ! Abnormal nasal bridge morphology

[Term]
id: HP:0003196
name: Short nose
alt_id: HP:0000440
alt_id: HP:0000449
alt_id: HP:0000450
alt_id: HP:0003192
alt_id: HP:0003195
alt_id: HP:0005270
alt_id: HP:0200092
def: "Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip." [https://orcid.org/0000-0002-0736-9199, PMID:19152422]
comment: Note: a small nose has both decreased height and a decreased width. These should be coded separately.
subset: hposlim_core
synonym: "Decreased length of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplastic nose" EXACT []
synonym: "Nasal hypoplasia" EXACT []
synonym: "Short nose" EXACT layperson []
synonym: "Shortened nose" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Small nose" RELATED layperson []
xref: SNOMEDCT_US:249310005
xref: UMLS:C0426414
xref: UMLS:C1854114
is_a: HP:0005105 ! Abnormal nasal morphology

[Term]
id: HP:0003198
name: Myopathy
alt_id: HP:0003569
alt_id: HP:0003705
alt_id: HP:0003742
alt_id: HP:0003802
def: "A disorder of muscle unrelated to impairment of innervation or neuromuscular junction." [https://orcid.org/0000-0002-0736-9199]
comment: The diagnosis of myopathy is often confirmed on the basis of myopathic changes in muscle biopsy.
synonym: "Muscle tissue disease" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Myopathic changes" EXACT []
xref: SNOMEDCT_US:129565002
xref: UMLS:C0026848
is_a: HP:0011805 ! Abnormal skeletal muscle morphology

[Term]
id: HP:0003199
name: Decreased muscle mass
alt_id: HP:0003732
synonym: "Decreased muscle mass" EXACT layperson []
xref: UMLS:C1837108
is_a: HP:0011805 ! Abnormal skeletal muscle morphology

[Term]
id: HP:0003200
name: Ragged-red muscle fibers
alt_id: HP:0009076
def: "An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm." [https://orcid.org/0000-0002-0736-9199, PMID:12075011, PMID:16537564]
comment: This finding is demonstrated by muscle biopsy. Note that additionally, muscle fibers with mitochondrial proliferation stain darkly for succinic dehydrogenase (SDH).
synonym: "Mitochondrial proliferation in muscle tissue" EXACT []
synonym: "Ragged red muscle fibers" EXACT []
synonym: "Ragged red muscle fibres" EXACT uk_spelling []
synonym: "Ragged-red fibers" EXACT []
synonym: "Ragged-red fibres" EXACT uk_spelling []
synonym: "Ragged-red muscle fibres" EXACT uk_spelling []
xref: UMLS:C3275417
is_a: HP:0004303 ! Abnormal muscle fiber morphology

[Term]
id: HP:0003201
name: Rhabdomyolysis
def: "Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream." [https://orcid.org/0000-0002-0736-9199]
synonym: "Breakdown of skeletal muscle" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:240131006
xref: SNOMEDCT_US:89010004
xref: UMLS:C0035410
is_a: HP:0011805 ! Abnormal skeletal muscle morphology

[Term]
id: HP:0003202
name: Skeletal muscle atrophy
alt_id: HP:0001299
alt_id: HP:0003545
alt_id: HP:0003671
alt_id: HP:0003702
alt_id: HP:0003746
alt_id: HP:0006995
alt_id: HP:0007171
alt_id: HP:0007356
alt_id: HP:0009010
alt_id: HP:0009048
alt_id: HP:0100868
def: "The presence of skeletal muscular atrophy (which is also known as amyotrophy)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Amyotrophy" EXACT []
synonym: "Amyotrophy involving the extremities" EXACT []
synonym: "Muscle atrophy" EXACT []
synonym: "Muscle atrophy, neurogenic" EXACT []
synonym: "Muscle degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Muscle hypotrophy" EXACT []
synonym: "Muscle wasting" EXACT layperson []
synonym: "Muscular atrophy" EXACT []
synonym: "Neurogenic muscle atrophy" EXACT []
synonym: "Neurogenic muscle atrophy, especially in the lower limbs" EXACT []
synonym: "Neurogenic muscular atrophy" EXACT []
xref: SNOMEDCT_US:74035001
xref: UMLS:C0234958
xref: UMLS:C0270948
xref: UMLS:C0541794
xref: UMLS:C1843479
is_a: HP:0011805 ! Abnormal skeletal muscle morphology

[Term]
id: HP:0003203
name: Decreased neutrophil oxidative burst
alt_id: HP:0005512
alt_id: HP:0025632
def: "Abnormal decrease of neutrophil oxidative burst, commonly measured through oxidation of dihydrorhodamine (DHR) using flow cytometry or through nitroblue tetrazolium test (NBT) using optical microscopy, upon stimulation with phorbol-12-myristate-13-acetate (PMA), E. coli or other ligands." [https://orcid.org/0000-0002-0736-9199, PMID:27558335]
comment: The NBT test measures the ability of neutrophils to convert nitroblue tetrazolium (NBT), to a deep blue color. This test can be abnormal in chronic granulomatous disease. An abnormal test result implies a reduction in the ability of neutrophils to kill bacteria. Polymorphonuclear neutrophils comprise more than 60% of the circulating white blood cells in humans. They have a central role in innate immunity and they regulate adaptive immunity. In healthy individuals, circulating neutrophils are freely flowing in a resting, dormant state. Upon infection, neutrophils are the first circulating cells to arrive at the infection and inflammatory site. Phagocytosis triggers the activation program of the neutrophils, leading to the intraphagosomal release of antibacterial peptides, proteases, myeloperoxidase, and superoxide anion (O2-), which is produced via the activation of the NADPH oxidase. Superoxide anion is the initiating spark leading to the generation of reactive oxygen species (ROS), i.e., hydrogen peroxide (H2O2), hydroxylradical and hypochlorous acid (HOCl), all contributing to the death and destruction of the bacteria within the phagosome. ROS production by the phagocytes was first referred as the respiratory burst or oxidative burst due to the rapid and cyanide-insensitive increase in oxygen uptake, increase in glucose consumption, andimmediate ROS release. The enzyme system dedicated to superoxide anion production, i.e., the phagocyte NADPH oxidase, a member of the NOX family of proteins also referred as NOX2, is composed of six proteins, two trans-membrane proteins (p22phox and gp91phox) that form theflavocytochrome b558, and four soluble proteins (p47phox,p67phox, and p40phox and the small G-proteins, Rac1/2).
synonym: "Decreased oxidative burst" EXACT []
synonym: "Impaired oxidative burst" EXACT []
synonym: "Negative NBT reduction test" EXACT []
synonym: "Negative nitroblue tetrazolium reduction test" EXACT []
synonym: "Reduced reactive oxygen species production in neutrophils" EXACT []
xref: UMLS:C4280805
is_a: HP:0011990 ! Abnormal neutrophil physiology

[Term]
id: HP:0003204
name: Intracellular accumulation of autofluorescent lipopigment storage material
def: "The intracellular accumulation of autofluorescent storage material." [https://orcid.org/0000-0002-0736-9199, PMID:16455164]
comment: Accumulation of intracellular autofluorescent material or aging pigment has been characterized as a normal aging event. Lipofuscin (from the Greek word for fat and the Latin word for dark), refers to intracellular autofluorescent material that accumulates in aging cells with a excitation wavelength between 320 and 480 nm and an emission wavelength between 460 and 630 nm. Lpofuscin consists of a mixture of oxidized proteins and lipids, carbohydrates and trace amount of metals. Ceroid iss a lipofuscin-like lipopigment that arises from pathological conditions such as disease, malnutrition, and cell stress. Subunit c of mitochondrial ATP synthase makes up approximately 40% of this lipopigment/ceroid accumulation.
xref: UMLS:C4025642
is_a: HP:0011017 ! Abnormal cellular physiology

[Term]
id: HP:0003205
name: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
def: "An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curvilinear profiles ultrastructurally" EXACT []
synonym: "Curvilinear profiles ultrastructurally in cells" EXACT []
synonym: "Intracellular curvilinear profiles on ultrastructural analysis" EXACT []
xref: UMLS:C1836852
is_a: HP:0003204 ! Intracellular accumulation of autofluorescent lipopigment storage material

[Term]
id: HP:0003206
name: Decreased activity of NADPH oxidase
xref: UMLS:C1844394
is_a: HP:0004358 ! Abnormality of superoxide metabolism

[Term]
id: HP:0003207
name: Arterial calcification
alt_id: HP:0012455
def: "Pathological deposition of calcium salts in one or more arteries." [https://orcid.org/0000-0002-0736-9199, PMID:18519861]
comment: Most individuals aged over 60 years have progressively enlarging deposits of calcium mineral in their major arteries. This vascular calcification reduces aortic and arterial elastance, which impairs cardiovascular hemodynamics, resulting in substantial morbidity and mortality in the form of hypertension, aortic stenosis, cardiac hypertrophy, myocardial and lower-limb ischemia, congestive heart failure, and compromised structural integrity.The severity and extent of mineralization reflect atherosclerotic plaque burden and strongly and independently predict cardiovascular morbidity and mortality. (From PMID:18519861).
xref: UMLS:C1168153
is_a: HP:0004934 ! Vascular calcification
is_a: HP:0011004 ! Abnormal systemic arterial morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-26T04:05:00Z

[Term]
id: HP:0003208
name: Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
def: "An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fingerprint profiles ultrastructurally" EXACT []
synonym: "Fingerprint profiles ultrastructurally in cells" EXACT []
xref: UMLS:C1836851
is_a: HP:0003204 ! Intracellular accumulation of autofluorescent lipopigment storage material

[Term]
id: HP:0003209
name: Decreased pyruvate carboxylase activity
def: "A decreased rate of pyruvate carboxylase activity." [https://orcid.org/0000-0002-0736-9199]
comment: Pyruvate carboxylase (EC 6.4.1.1) is a nuclear-encoded mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, a precursor for the citric acid cycle.
xref: UMLS:C4025641
is_a: HP:0000816 ! Abnormality of Krebs cycle metabolism

[Term]
id: HP:0003210
name: Decreased methylmalonyl-CoA mutase activity
def: "An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity." [https://orcid.org/0000-0002-0736-9199]
comment: The product of the enzyme, succinyl-CoA, is a key molecule of the TCA (Krebs) cycle. The substrate of the enzyme, methylmalonyl-CoA, is primarily derived from propionyl-CoA, a substance formed from the catabolism of isoleucine, valine, threonine, methionine, thymine, uracil, cholesterol, or odd-chain fatty acids.
synonym: "Decreased methylmalonyl CoA mutase activity" EXACT []
xref: UMLS:C1848579
is_a: HP:0000816 ! Abnormality of Krebs cycle metabolism

[Term]
id: HP:0003212
name: Increased circulating IgE concentration
alt_id: HP:0005382
alt_id: HP:0005418
alt_id: HP:0005433
def: "An abnormally increased overall level of immunoglobulin E in blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Elevated immunoglobulin E" EXACT []
synonym: "Elevated serum IgE" EXACT []
synonym: "High immunoglobulin E" EXACT []
synonym: "Increased circulating IgE level" EXACT []
xref: UMLS:C0236175
is_a: HP:0010702 ! Increased circulating immunoglobulin concentration
is_a: HP:0410241 ! Abnormal circulating IgE concentration

[Term]
id: HP:0003213
name: Deficient excision of UV-induced pyrimidine dimers in DNA
xref: UMLS:C4025640
is_a: HP:0003254 ! Abnormality of DNA repair

[Term]
id: HP:0003214
name: Prolonged G2 phase of cell cycle
xref: UMLS:C4025639
is_a: HP:0011018 ! Abnormality of the cell cycle

[Term]
id: HP:0003215
name: Dicarboxylic aciduria
alt_id: HP:0033455
def: "An increased concentration of dicarboxylic acid in the urine." [HPO_CONTRIBUTOR:gcarletti]
comment: A dicarboxylic acid is an oxoacid containing two carboxy groups. Dicarboxylic aciduria occurs during increased mobilization or inhibited beta-oxidation of fatty acids, where a number of 3-hydroxydicarboxylic acids are excreted in the urine.
synonym: "Elevated urinary dicarboxylic acid level" EXACT []
xref: UMLS:C1856432
is_a: HP:0040156 ! Elevated urinary carboxylic acid

[Term]
id: HP:0003216
name: Generalized amyloid deposition
def: "A diffuse form of amyloidosis." [https://orcid.org/0000-0002-0736-9199]
comment: According to MeSH (D000682), Amyloid is fibrous protein complex that consists of proteins folded into a specific cross beta-pleated sheet structure. This fibrillar structure has been found as an alternative folding pattern for a variety of functional proteins. Deposits of amyloid in the form of amyloid plaques are associated with a variety of degenerative diseases. The amyloid structure has also been found in a number of functional proteins that are unrelated to disease.
synonym: "Generalised amyloid deposition" EXACT uk_spelling []
xref: UMLS:C1862968
is_a: HP:0011034 ! Amyloidosis

[Term]
id: HP:0003217
name: Hyperglutaminemia
def: "An increased concentration of glutamine in the blood." [HPO_CONTRIBUTOR:gcarletti, PMID:4696900]
comment: Normal glutamine blood levels are around 550-600 micromole per liter.
synonym: "High plasma glutamine" EXACT layperson []
xref: UMLS:C1839533
is_a: HP:0010903 ! Abnormal circulating glutamine concentration

[Term]
id: HP:0003218
name: Oroticaciduria
alt_id: HP:0000810
alt_id: HP:0010928
def: "An increased concentration of orotic acid in the urine." [HPO_CONTRIBUTOR:gcarlotti]
comment: Orotic acid is an intermediate in the biosynthesis of pyrimidine nucleotides. Some enzymatic deficiencies can cause the excretion of a large amount of orotic acid in the urine and a defect in pyrimidine biosynthesis.
synonym: "High urine orotic acid levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Increased urinary orotic acid concentration" EXACT []
synonym: "Orotic aciduria" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:124277009
xref: SNOMEDCT_US:47641009
xref: UMLS:C0268128
is_a: HP:0031980 ! Abnormal urine carboxylic acid level

[Term]
id: HP:0003219
name: Ethylmalonic aciduria
def: "The concentration of ethylmalonic acid in the urine, normalized for urine concentration, is above the upper limit of normal." [https://orcid.org/0000-0002-0736-9199]
comment: Ethylmalonic acid is a dicarboxylic acid obtained by substitution of one of the methylene hydrogens of malonic acid by an ethyl group.
xref: UMLS:C1865353
is_a: HP:0003215 ! Dicarboxylic aciduria

[Term]
id: HP:0003220
name: Abnormality of chromosome stability
alt_id: HP:0002915
alt_id: HP:0008307
def: "A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C0376628
xref: UMLS:C1859424
is_a: HP:0011017 ! Abnormal cellular physiology

[Term]
id: HP:0003221
name: Chromosomal breakage induced by crosslinking agents
def: "Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C." [https://orcid.org/0009-0006-4530-3154]
comment: Increased tendency to chromosomal breakage induced by crosslinking agents is typical for the various forms of Fanconi anemia.
synonym: "Chromosomal breakage induced by diepoxybutane" EXACT []
synonym: "Chromosomal breakage induced by mitomycin C" EXACT []
xref: UMLS:C4021737
is_a: HP:0040012 ! Chromosome breakage

[Term]
id: HP:0003223
name: Decreased circulating methylcobalamin concentration
alt_id: HP:0008287
def: "The concentration of methylcobalamin in the blood circulation is below the lower limit of normal. Methylcobalamin is a form of vitamin B12." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased methylcobalamin" EXACT []
synonym: "Methylcobalamin deficiency" EXACT []
xref: UMLS:C4021736
is_a: HP:0040126 ! Abnormal circulating vitamin B12 concentration

[Term]
id: HP:0003224
name: Increased cellular sensitivity to UV light
xref: UMLS:C1857707
is_a: HP:0011017 ! Abnormal cellular physiology

[Term]
id: HP:0003225
name: Reduced coagulation factor V activity
def: "Decreased activity of coagulation factor V." [https://orcid.org/0000-0002-0736-9199]
comment: Factor V is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex.
synonym: "Factor V deficiency" RELATED []
synonym: "Reduced factor V activity" EXACT []
xref: SNOMEDCT_US:4320005
xref: SNOMEDCT_US:88776002
xref: UMLS:C0015499
is_a: HP:0031899 ! Abnormal coagulation factor V activity

[Term]
id: HP:0003226
name: Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
def: "An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern." [https://orcid.org/0000-0002-0736-9199]
synonym: "Rectilinear profiles ultrastructurally" EXACT []
xref: UMLS:C1850447
is_a: HP:0003204 ! Intracellular accumulation of autofluorescent lipopigment storage material

[Term]
id: HP:0003228
name: Hypernatremia
def: "An abnormally increased sodium concentration in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "High blood sodium levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:286926003
xref: SNOMEDCT_US:39355002
xref: UMLS:C0020488
is_a: HP:0010931 ! Abnormal blood sodium concentration

[Term]
id: HP:0003231
name: Hypertyrosinemia
def: "An increased concentration of tyrosine in the blood." [https://orcid.org/0000-0002-0736-9199]
comment: Defect in fumarylacetoacetase.
synonym: "Increased tyrosine in blood" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Tyrosinemia" EXACT []
xref: SNOMEDCT_US:56595005
xref: UMLS:C1879362
is_a: HP:0010917 ! Abnormal circulating tyrosine concentration

[Term]
id: HP:0003232
name: Mitochondrial malic enzyme reduced
synonym: "Decreased mitochondrial malic enzyme" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1856697
is_a: HP:0003287 ! Abnormality of mitochondrial metabolism

[Term]
id: HP:0003233
name: Decreased HDL cholesterol concentration
def: "An decreased concentration of high-density lipoprotein cholesterol in the blood." [HPO_CONTRIBUTOR:gcarletti]
synonym: "Decreased circulating high-density lipoprotein cholesterol" EXACT layperson []
synonym: "Decreased circulating high-density lipoprotein levels" EXACT []
synonym: "Decreased HDL cholesterol" EXACT layperson []
synonym: "Hypoalphalipoproteinemia" EXACT []
synonym: "Low HDL-cholesterol" EXACT layperson []
xref: SNOMEDCT_US:190785000
xref: UMLS:C0151691
xref: UMLS:C0473527
is_a: HP:0010981 ! Hypolipoproteinemia
is_a: HP:0031888 ! Abnormal HDL cholesterol concentration

[Term]
id: HP:0003234
name: Decreased circulating carnitine concentration
def: "Concentration of carnitine in the blood circulation below the lower limit of normal." [HPO_CONTRIBUTOR:gcarletti]
comment: Carnitine is responsible for the transport of fatty acids from the cytosol into the mitochondria.
synonym: "Carnitine deficiency" RELATED layperson []
synonym: "Decreased plasma carnitine" EXACT layperson []
xref: SNOMEDCT_US:421784001
xref: UMLS:C1142132
is_a: HP:0003287 ! Abnormality of mitochondrial metabolism
is_a: HP:0010967 ! Abnormal circulating carnitine concentration

[Term]
id: HP:0003235
name: Hypermethioninemia
def: "An increased concentration of methionine in the blood." [HPO_CONTRIBUTOR:gcarletti]
comment: Elevated blood methionine levels in the range of 500-2000 micromolar.
synonym: "Increased methionine in blood" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Methioninemia" EXACT []
xref: SNOMEDCT_US:124283007
xref: SNOMEDCT_US:43123004
xref: SNOMEDCT_US:57835009
xref: UMLS:C0268621
is_a: HP:0010901 ! Abnormal circulating methionine concentration

[Term]
id: HP:0003236
name: Elevated circulating creatine kinase concentration
alt_id: HP:0002147
alt_id: HP:0002906
alt_id: HP:0003078
alt_id: HP:0003525
alt_id: HP:0003531
alt_id: HP:0008164
def: "An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy." [https://orcid.org/0000-0002-0736-9199]
comment: 'has part' some ('increased amount' and ('inheres in' some (IMR_0002602 and ('part of' some blood))) and ('has modifier' some abnormal))
synonym: "Elevated blood creatine phosphokinase" EXACT layperson []
synonym: "Elevated circulating creatine phosphokinase" EXACT layperson []
synonym: "Elevated creatine kinase" EXACT layperson []
synonym: "Elevated serum CPK" EXACT layperson []
synonym: "Elevated serum creatine kinase" EXACT layperson []
synonym: "Elevated serum creatine phosphokinase" EXACT layperson []
synonym: "High serum creatine kinase" EXACT layperson []
synonym: "Increased CPK" EXACT layperson []
synonym: "Increased creatine kinase" EXACT layperson []
synonym: "Increased creatine phosphokinase" EXACT layperson []
synonym: "Increased serum CK" EXACT layperson []
synonym: "Increased serum creatine kinase" EXACT layperson []
synonym: "Increased serum creatine phosphokinase" EXACT layperson []
xref: UMLS:C0151576
xref: UMLS:C0241005
is_a: HP:0040081 ! Abnormal circulating creatine kinase concentration

[Term]
id: HP:0003237
name: Increased circulating IgG concentration
def: "An abnormally increased level of immunoglobulin G in blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased circulating IgG level" EXACT []
synonym: "Increased IgG level" EXACT []
synonym: "Increased levels of IgG" EXACT []
synonym: "Increased total IgG in blood" EXACT []
xref: UMLS:C1858977
is_a: HP:0010702 ! Increased circulating immunoglobulin concentration
is_a: HP:0410242 ! Abnormal circulating IgG concentration

[Term]
id: HP:0003238
name: Hyperpepsinogenemia I
xref: UMLS:C4025638
is_a: HP:0010876 ! Abnormal circulating protein concentration

[Term]
id: HP:0003239
name: Phosphoethanolaminuria
alt_id: HP:0410158
def: "An increased level of phosphoethanolamine (synonym: O-phosphoethanolamine) in the urine." [https://orcid.org/0000-0002-0736-9199, PMID:23093139]
synonym: "High urine phosphoethanolamine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Increased level of O-phosphoethanolamine in urine" EXACT []
synonym: "Increased urine O-phosphoethanolamine level" EXACT []
xref: SNOMEDCT_US:55236002
xref: UMLS:C0268412
is_a: HP:0033354 ! Abnormal urine metabolite level

[Term]
id: HP:0003240
name: Increased phosphoribosylpyrophosphate synthetase level
def: "Abnormally elevated level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate." [PMID:4200723]
synonym: "Increased phosphoribosyl pyrophosphate synthetase activity" EXACT []
synonym: "Increased PRPS1 activity" EXACT []
xref: UMLS:C4025637
is_a: HP:0032459 ! Abnormal phosphoribosylpyrophosphate synthetase level

[Term]
id: HP:0003241
name: External genital hypoplasia
alt_id: HP:0000788
alt_id: HP:0003245
def: "Underdevelopment of part or all of the external reproductive organs." [https://orcid.org/0000-0002-0736-9199]
comment: Partial or complete failure of the genitalia to develop, often as a consequence of hypogonadism.
synonym: "Hypogenitalism" EXACT []
synonym: "Small genitalia" EXACT []
synonym: "Underdevelopment of external reproductive organs" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1855333
is_a: HP:0000811 ! Abnormal external genitalia morphology

[Term]
id: HP:0003244
name: Penile hypospadias
def: "Location of the urethral opening on the inferior aspect of the penis." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:204888000
xref: UMLS:C1691215
is_a: HP:0000047 ! Hypospadias

[Term]
id: HP:0003246
name: Prominent scrotal raphe
def: "Increased size of the ridge of tissue that extends along the midline of the scrotum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Prominent perineal raphe" EXACT []
xref: UMLS:C1852407
is_a: HP:0000045 ! Abnormal scrotum morphology

[Term]
id: HP:0003247
name: Overgrowth of external genitalia
synonym: "Overgrowth of external genitalia" EXACT layperson []
xref: UMLS:C1851722
is_a: HP:0000811 ! Abnormal external genitalia morphology

[Term]
id: HP:0003248
name: Gonadal tissue inappropriate for external genitalia or chromosomal sex
xref: UMLS:C1860268
is_a: HP:0000062 ! Ambiguous genitalia

[Term]
id: HP:0003249
name: Genital ulcers
synonym: "Genital ulcers" EXACT layperson []
xref: UMLS:C0151281
is_a: HP:0012243 ! Abnormal reproductive system morphology

[Term]
id: HP:0003250
name: Aplasia of the vagina
alt_id: HP:0008709
def: "Aplasia of the vagina." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent vagina" EXACT layperson []
synonym: "Congenital absence of the vagina" EXACT []
xref: SNOMEDCT_US:248871003
xref: SNOMEDCT_US:87380008
xref: UMLS:C0220763
xref: UMLS:C1321884
xref: UMLS:C1841990
is_a: HP:0011026 ! Aplasia/Hypoplasia of the vagina

[Term]
id: HP:0003251
name: Male infertility
synonym: "Male infertility" EXACT layperson []
xref: SNOMEDCT_US:2904007
xref: UMLS:C0021364
is_a: HP:0000789 ! Infertility
is_a: HP:0012041 ! Decreased fertility in males

[Term]
id: HP:0003252
name: Anteriorly displaced genitalia
xref: UMLS:C1848653
is_a: HP:0012243 ! Abnormal reproductive system morphology

[Term]
id: HP:0003254
name: Abnormality of DNA repair
def: "An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4021848
is_a: HP:0011017 ! Abnormal cellular physiology

[Term]
id: HP:0003256
name: Abnormality of the coagulation cascade
alt_id: HP:0001925
def: "An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators." [https://orcid.org/0000-0002-0736-9199]
synonym: "Coagulopathy" EXACT []
xref: SNOMEDCT_US:362970003
xref: SNOMEDCT_US:64779008
xref: UMLS:C0005779
is_a: HP:0001928 ! Abnormality of coagulation

[Term]
id: HP:0003258
name: Glyoxalase deficiency
xref: UMLS:C3279658
is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity

[Term]
id: HP:0003259
name: Elevated circulating creatinine concentration
alt_id: HP:0003227
def: "An increased amount of creatinine in the blood." [HPO_CONTRIBUTOR:gcarletti]
synonym: "Elevated creatinine" EXACT layperson []
synonym: "Elevated serum creatinine" EXACT []
synonym: "High blood creatinine level" EXACT layperson []
synonym: "Increased creatinine" EXACT layperson []
synonym: "Increased serum creatinine" EXACT layperson []
xref: SNOMEDCT_US:166717003
xref: UMLS:C0700225
is_a: HP:0002157 ! Azotemia
is_a: HP:0012100 ! Abnormal circulating creatinine concentration

[Term]
id: HP:0003260
name: Hydroxyprolinemia
def: "An increased concentration of hydroxyproline in the blood." [HPO_CONTRIBUTOR:gcarletti]
comment: Hydroxyproline is an imino acid normally present in human plasma and is derived primarily from endogenous collagen turnover and the breakdown of dietary collagen. Hyperhydroxyprolinemic patients show hydroxyproline blood levels between 150 and 500 micromole per liter. Normal levels are around 10-20 micromole per liter.
synonym: "High blood hydroxyproline levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:25739007
xref: UMLS:C0268531
is_a: HP:0010907 ! Abnormal circulating proline concentration

[Term]
id: HP:0003261
name: Increased circulating IgA concentration
alt_id: HP:0004436
alt_id: HP:0005351
alt_id: HP:0005417
def: "An abnormally increased level of immunoglobulin A in blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Elevated IgA" EXACT []
synonym: "Elevated serum IgA" EXACT []
synonym: "IgA hypergammaglobulinemia" EXACT []
synonym: "Increased circulating IgA level" EXACT []
synonym: "Increased levels of IgA" EXACT []
synonym: "Increased serum IgA" EXACT []
xref: UMLS:C0239984
is_a: HP:0010702 ! Increased circulating immunoglobulin concentration
is_a: HP:0410240 ! Abnormal circulating IgA concentration

[Term]
id: HP:0003262
name: Anti-smooth muscle antibody positivity
def: "The presence in serum of antibodies against smooth muscle." [https://orcid.org/0000-0002-0736-9199]
comment: Anti smooth muscle antibody (SMA) may be present in a number of conditions including chronic active hepatitis, autoimmune hepatitis, cirrhosis, and infectious mononucleosis.
synonym: "Anti-smooth muscle antibody positivity" EXACT []
synonym: "Smooth muscle antibody positive" EXACT []
synonym: "Smooth muscle antibody positivity" EXACT []
xref: SNOMEDCT_US:310290006
xref: UMLS:C0241185
is_a: HP:0030057 ! Autoimmune antibody positivity

[Term]
id: HP:0003264
name: Deficiency of N-acetylglucosamine-1-phosphotransferase
comment: N-acetylglucosamine-1-phosphotransferase catalyzes the initial step in the synthesis of the mannose 6-phosphate determinant required for efficient intracellular targeting of newly synthesized lysosomal hydrolases to the lysosome.
xref: SNOMEDCT_US:70199000
xref: UMLS:C0020725
is_a: HP:0004356 ! Abnormality of lysosomal metabolism

[Term]
id: HP:0003265
name: Neonatal hyperbilirubinemia
alt_id: HP:0008152
def: "A type of hyperbilirubinemia with neonatal onset." [https://orcid.org/0000-0002-0736-9199]
synonym: "High blood bilirubin levels in neonate" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Hyperbilirubinemia, neonatal" EXACT []
xref: SNOMEDCT_US:281610001
xref: UMLS:C0857007
is_a: HP:0002904 ! Hyperbilirubinemia

[Term]
id: HP:0003267
name: Reduced orotidine 5-prime phosphate decarboxylase level
def: "An abnormal decrease in orotidine 5'-phosphate decarboxylase level." [HPO_CONTRIBUTOR:gcarletti]
comment: The enzyme orotidine-5-prime-phosphate decarboxylase (EC 4.1.1.23) catalyzes the reaction H(+) + orotidine 5'-phosphate = CO(2) + UMP (uridine monophosphate). The enzyme is thusinvolved in pyrimidine biosynthesis.
synonym: "Orotidine-5-prime-phosphate decarboxylase defect" RELATED []
xref: UMLS:C4020845
xref: UMLS:C4025636
is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity

[Term]
id: HP:0003268
name: Argininuria
def: "A increased concentration of arginine in the urine." [https://orcid.org/0000-0002-0736-9199, PMID:18901181, PMID:20240447]
comment: Normal urinary arginine total (free and combined form) excretion is around 30 mg per 24 hours.
synonym: "High urine arginine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025635
is_a: HP:0033093 ! Increased glutamine family amino acid level in urine

[Term]
id: HP:0003269
name: Sudanophilic leukodystrophy
xref: SNOMEDCT_US:64855000
xref: UMLS:C0205711
is_a: HP:0002415 ! Leukodystrophy

[Term]
id: HP:0003270
name: Abdominal distention
alt_id: HP:0001542
alt_id: HP:0003364
def: "Distention of the abdomen." [https://orcid.org/0000-0002-0736-9199]
comment: Abdominal distention can be a secondary feature associated with a number of conditions such as bowel obstruction.
subset: hposlim_core
synonym: "Abdominal bloating" EXACT layperson []
synonym: "Abdominal distension" EXACT []
synonym: "Abdominal swelling" EXACT layperson []
synonym: "Belly bloating" EXACT layperson []
synonym: "Bloating" EXACT layperson []
synonym: "Distended abdomen" EXACT []
xref: SNOMEDCT_US:41931001
xref: SNOMEDCT_US:60728008
xref: UMLS:C0000731
is_a: HP:0011458 ! Abdominal symptom

[Term]
id: HP:0003271
name: Visceromegaly
def: "Abnormal increased size of the viscera of the abdomen." [https://orcid.org/0000-0002-0736-9199]
comment: Visceromegaly is enlargement of the internal organs in the abdomen, including liver, spleen, stomach, kidneys, or pancreas.
xref: SNOMEDCT_US:28543008
xref: UMLS:C0042782
is_a: HP:0001438 ! Abnormal abdomen morphology

[Term]
id: HP:0003272
name: Abnormal hip bone morphology
def: "An abnormality of the hip bone." [https://orcid.org/0000-0002-0736-9199]
comment: The hip region comprises the vasculature of hip, skin of hip, superficial fascia of hip, the hip bone, hip joint, and musculature of hip. The hip is part of the pelvic girdle.
synonym: "Abnormality of the hip bone" EXACT layperson []
synonym: "Abnormality of the hips" EXACT layperson []
xref: UMLS:C4021735
is_a: HP:0002644 ! Abnormal pelvic girdle bone morphology

[Term]
id: HP:0003273
name: Hip contracture
def: "Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin." [PMID:16214063, PMID:24975760, PMID:31282072]
synonym: "Flexion contracture of hips" EXACT []
synonym: "Flexion contractures of hips" EXACT []
synonym: "Hip contractures" EXACT []
synonym: "Hip flexion contractures" EXACT []
xref: SNOMEDCT_US:202283002
xref: UMLS:C0409354
is_a: HP:0001384 ! Abnormal hip joint morphology
is_a: HP:0005750 ! Lower-limb joint contracture

[Term]
id: HP:0003274
name: Hypoplastic acetabulae
def: "Underdeveloped acetabulae." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Acetabular hypoplasia" EXACT []
synonym: "Hypoplastic acetabula" EXACT []
xref: UMLS:C1846442
is_a: HP:0003170 ! Abnormal acetabulum morphology

[Term]
id: HP:0003275
name: Narrow pelvis bone
def: "Reduced side to side width of the pelvis." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Narrow pelvis" BROAD layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Narrow pelvis bone" EXACT layperson []
xref: UMLS:C1848103
is_a: HP:0040163 ! Abnormal pelvis bone morphology

[Term]
id: HP:0003276
name: Pelvic bone exostoses
def: "A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage." [https://orcid.org/0000-0002-0736-9199]
synonym: "Pelvic exostoses" BROAD [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1844689
is_a: HP:0040163 ! Abnormal pelvis bone morphology
is_a: HP:0100777 ! Exostoses

[Term]
id: HP:0003277
name: Constricted iliac wing
synonym: "Constricted iliac wings" EXACT plural_form []
xref: UMLS:C1854785
is_a: HP:0011867 ! Abnormal iliac wing morphology

[Term]
id: HP:0003278
name: Square pelvis bone
def: "An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure." [https://orcid.org/0000-0002-0736-9199]
synonym: "Square pelvis" BROAD layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Square pelvis bone" EXACT layperson []
synonym: "Squared off pelvis" RELATED []
xref: UMLS:C1849953
is_a: HP:0040163 ! Abnormal pelvis bone morphology

[Term]
id: HP:0003279
name: Coxa magna
def: "Widening of the femoral head and neck." [https://orcid.org/0000-0002-0736-9199]
comment: Coxa magna can occur as a result of developmental dysplasia of the hip, Perthes disease, septic arthritis, Kniest dysplasia, among others.
xref: SNOMEDCT_US:296041000119103
xref: UMLS:C1860826
is_a: HP:0003272 ! Abnormal hip bone morphology

[Term]
id: HP:0003281
name: Increased circulating ferritin concentration
def: "Increased concentration of ferritin in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
comment: Ferritin is a ubiquitous intracellular protein that stores iron. Ferritin levels measured in serum usually have a direct correlation with the total amount of iron stored in the body, but ferritin levels may also be increased with anemia of chronic disease or in the course of an acute phase reaction.
synonym: "Elevated serum ferritin" EXACT layperson []
synonym: "High ferritin level" EXACT layperson []
synonym: "Hyperferritinaemia" EXACT []
synonym: "Hyperferritinemia" EXACT []
synonym: "Increased ferritin" EXACT layperson []
synonym: "Increased plasma ferritin" EXACT []
synonym: "Increased serum ferritin level" EXACT layperson []
xref: UMLS:C0241013
xref: UMLS:C0743912
xref: UMLS:C3854388
is_a: HP:0033331 ! Acute phase response
is_a: HP:0040133 ! Abnormal circulating ferritin concentration

[Term]
id: HP:0003282
name: Decreased circulating alkaline phosphatase activity
def: "Concentration or activity of alkaline phosphatase outside the upper or lower limtis of normal in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased serum alkaline phosphatase" EXACT layperson []
synonym: "Low alkaline phosphatase" EXACT []
synonym: "Low ALP" EXACT abbreviation []
xref: UMLS:C1860130
is_a: HP:0004379 ! Abnormality of alkaline phosphatase level

[Term]
id: HP:0003286
name: Cystathioninemia
def: "An increased concentration of cystathionine in the blood." [HPO_CONTRIBUTOR:gcarletti, PMID:16902722]
comment: Cystathionine can be directly interconverted to cysteine. Cystathionine is not normally detectable in plasma.
synonym: "High blood cystathionine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:6669004
xref: UMLS:C0268618
is_a: HP:0033108 ! Abnormal circulating proteinogenic amino acid derivative concentration

[Term]
id: HP:0003287
name: Abnormality of mitochondrial metabolism
def: "A functional anomaly of mitochondria." [https://orcid.org/0000-0001-5208-3432]
synonym: "Mitochondrial dysfunction" EXACT []
xref: UMLS:C4021734
is_a: HP:0012103 ! Abnormality of the mitochondrion

[Term]
id: HP:0003288
name: Mitochondrial propionyl-CoA carboxylase defect
synonym: "Mitochondrial PCC defect" EXACT []
xref: UMLS:C4025634
is_a: HP:0003287 ! Abnormality of mitochondrial metabolism

[Term]
id: HP:0003292
name: Decreased serum leptin
def: "A decreased concentration of leptin in the blood." [https://orcid.org/0000-0002-0736-9199, PMID:16932309]
comment: Leptin is an adipocyte-secreted hormone with a key role in energy homeostasis.
synonym: "Decreased serum leptin" EXACT layperson []
synonym: "Reduced circulating leptin level" EXACT []
xref: UMLS:C1837802
is_a: HP:0004361 ! Abnormal circulating leptin concentration

[Term]
id: HP:0003295
name: obsolete Impaired FSH and LH secretion
is_obsolete: true
consider: HP:0030339

[Term]
id: HP:0003296
name: Hyperthreoninuria
def: "An increased concentration of threonine in the urine." [https://orcid.org/0000-0002-0736-9199, PMID:18901181, PMID:20240447]
comment: Normal urinary threonine total (free and combined form) excretion is around 50 mg per 24 hours.
synonym: "High urine threonine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C2673931
is_a: HP:0033096 ! Increased aspartate family amino acid level in urine

[Term]
id: HP:0003297
name: Hyperlysinuria
alt_id: HP:0002158
def: "An increased concentration of lysine in the urine." [https://orcid.org/0000-0002-0736-9199, PMID:18901181, PMID:20240447]
comment: Normal urinary lysine total (free and combined form) excretion is around 80 mg per 24 hours.
synonym: "High urine lysine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Lysinuria" EXACT []
xref: UMLS:C4021733
is_a: HP:0033096 ! Increased aspartate family amino acid level in urine

[Term]
id: HP:0003298
name: Spina bifida occulta
def: "The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin." [https://orcid.org/0000-0002-0736-9199]
comment: May be asymptomatic.
subset: hposlim_core
synonym: "Hidden spina bifida" EXACT []
xref: SNOMEDCT_US:76916001
xref: UMLS:C0080174
is_a: HP:0002414 ! Spina bifida

[Term]
id: HP:0003300
name: Ovoid vertebral bodies
alt_id: HP:0004559
def: "When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet vertebral body" RELATED []
synonym: "Oval vertebral bodies" EXACT []
synonym: "Ovoid vertebrae" EXACT []
synonym: "Ovoid-shaped vertebral bodies" EXACT []
xref: UMLS:C1855665
xref: UMLS:C4020844
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0003301
name: Irregular vertebral endplates
alt_id: HP:0003420
alt_id: HP:0004583
alt_id: HP:0004628
def: "An irregular surface of the vertebral end plates, which are normally relatively smooth." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "end-plate irregularities" EXACT []
synonym: "endplate irregularities" EXACT []
synonym: "endplate irregularity" EXACT []
synonym: "Irregular end plates" EXACT []
synonym: "Irregular endplates" EXACT []
synonym: "irregular vertebral plates" EXACT []
synonym: "vertebral endplate irregularity" EXACT []
xref: UMLS:C1842153
is_a: HP:0005106 ! Abnormality of the vertebral endplates

[Term]
id: HP:0003302
name: Spondylolisthesis
def: "Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra." [https://orcid.org/0000-0002-0736-9199, PMID:20411054]
synonym: "Displacement of one backbone compared to another" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Slipped backbone" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Spondylolithesis" EXACT []
xref: SNOMEDCT_US:274152003
xref: UMLS:C0038016
is_a: HP:0000925 ! Abnormality of the vertebral column

[Term]
id: HP:0003304
name: Spondylolysis
def: "Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma." [https://orcid.org/0000-0002-0736-9199, PMID:20440613]
comment: The pars interarticularis is one of the bony bridges that connect the upper with the lower facet joints of the vertebra. Lumbar spondylolysis is a common cause of lower back pain. The vast majority of cases of spondylolysis occur at the L5 or L4 levels, and is usually diagnosed radiographically. Over half of patients affected by spondylolysis have associated spondylolisthesis.
subset: hposlim_core
xref: SNOMEDCT_US:240221008
xref: UMLS:C0038018
is_a: HP:0000925 ! Abnormality of the vertebral column

[Term]
id: HP:0003305
name: Block vertebrae
def: "Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies)." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1844753
is_a: HP:0002948 ! Vertebral fusion

[Term]
id: HP:0003306
name: Spinal rigidity
def: "Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion." [https://orcid.org/0000-0002-0736-9199, PMID:11601420, PMID:2246660]
synonym: "Reduced spine movement" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Rigid spine" EXACT []
xref: UMLS:C1858025
is_a: HP:0000925 ! Abnormality of the vertebral column

[Term]
id: HP:0003307
name: Hyperlordosis
alt_id: HP:0002939
def: "Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Lordosis" EXACT []
synonym: "Prominent swayback" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:249710008
xref: SNOMEDCT_US:61960001
xref: UMLS:C0024003
is_a: HP:0010674 ! Abnormal curvature of the vertebral column

[Term]
id: HP:0003308
name: Cervical subluxation
def: "A partial dislocation of one or more intervertebral joints in the cervical vertebral column." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1846798
is_a: HP:0003319 ! Abnormality of the cervical spine
is_a: HP:0032153 ! Joint subluxation

[Term]
id: HP:0003309
name: Ovoid thoracolumbar vertebrae
synonym: "Ovoid thoracic and lumbar vertebrae" EXACT []
xref: UMLS:C1868556
is_a: HP:0003300 ! Ovoid vertebral bodies

[Term]
id: HP:0003310
name: Abnormal odontoid process morphology
alt_id: HP:0004600
def: "Abnormal structure of the odontoid process, which is a part of the C2 or axis vertebra and forms pivot of the structures forming the craniovertebral junction. The odontoid process is also known as the dens of the axis." [https://orcid.org/0000-0002-0736-9199, PMID:27081234]
comment: The dens of the axis is a protuberance of the C2 vertebral body around which the first vertebra rotates.
synonym: "Abnormal odontoid peg" EXACT []
synonym: "Abnormal odontoid process" EXACT []
synonym: "Abnormality of the odontoid process" EXACT []
xref: UMLS:C1864794
is_a: HP:0000925 ! Abnormality of the vertebral column

[Term]
id: HP:0003311
name: Hypoplasia of the odontoid process
alt_id: HP:0003299
alt_id: HP:0004613
alt_id: HP:0008481
def: "Developmental hypoplasia of the dens of the axis." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Hypoplastic odontoid process" EXACT []
synonym: "Odontoid hypoplasia" EXACT []
synonym: "Small odontoid peg" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Small odontoid process" EXACT []
xref: UMLS:C1846439
is_a: HP:0003310 ! Abnormal odontoid process morphology
is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column

[Term]
id: HP:0003312
name: Abnormal form of the vertebral bodies
def: "Abnormal morphology of vertebral body." []
synonym: "Abnormal vertebral bodies" EXACT []
synonym: "Abnormally shaped vertebrae" EXACT []
xref: UMLS:C1839326
is_a: HP:0003468 ! Abnormal vertebral morphology

[Term]
id: HP:0003316
name: Butterfly vertebrae
def: "A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray." [https://orcid.org/0000-0002-0736-9199, PMID:31448202, PMID:3693103]
synonym: "Anterior rachischisis" EXACT []
synonym: "Butterfly vertebrae" EXACT layperson []
synonym: "Sagittal clefting of vertebrae" EXACT []
xref: UMLS:C1844752
is_a: HP:0008428 ! Vertebral clefting

[Term]
id: HP:0003318
name: Cervical spine hypermobility
synonym: "Cervical spine joint hypermobility" EXACT []
xref: SNOMEDCT_US:298186005
xref: UMLS:C0574967
is_a: HP:0003319 ! Abnormality of the cervical spine

[Term]
id: HP:0003319
name: Abnormality of the cervical spine
alt_id: HP:0004587
def: "Any abnormality of the cervical vertebral column." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal cervical spine" EXACT layperson []
synonym: "Abnormality of cervical vertebra" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the cervical vertebrae" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Cervical spine abnormalities" EXACT []
synonym: "Cervical vertebral abnormalities" EXACT []
synonym: "Cervical vertebral anomalies" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Disorder of cervical vertebra" EXACT []
xref: UMLS:C1852464
is_a: HP:0000925 ! Abnormality of the vertebral column

[Term]
id: HP:0003320
name: C1-C2 subluxation
def: "A partial dislocation of the atlantoaxial joints." [https://orcid.org/0000-0002-0736-9199]
comment: A subluxation affecting the intervertebral joint between the first and second cervical vertebrae.
xref: UMLS:C1848446
is_a: HP:0003308 ! Cervical subluxation
is_a: HP:0008440 ! C1-C2 vertebral abnormality

[Term]
id: HP:0003321
name: Biconcave flattened vertebrae
alt_id: HP:0005782
xref: UMLS:C1833753
is_a: HP:0000926 ! Platyspondyly
is_a: HP:0004586 ! Biconcave vertebral bodies

[Term]
id: HP:0003323
name: Progressive muscle weakness
alt_id: HP:0009032
synonym: "Muscle weakness, progressive" EXACT []
synonym: "Progressive muscular weakness" EXACT []
xref: UMLS:C0240421
is_a: HP:0001324 ! Muscle weakness

[Term]
id: HP:0003324
name: Generalized muscle weakness
alt_id: HP:0003686
alt_id: HP:0003723
def: "Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature." [https://orcid.org/0000-0002-0736-9199]
synonym: "Generalised muscle weakness" EXACT uk_spelling []
synonym: "Generalised weakness" EXACT uk_spelling []
synonym: "Generalized weakness" EXACT []
synonym: "Muscle weakness, diffuse" EXACT []
synonym: "Muscle weakness, generalised" EXACT uk_spelling []
synonym: "Muscle weakness, generalized" EXACT []
xref: UMLS:C0746674
is_a: HP:0001324 ! Muscle weakness

[Term]
id: HP:0003325
name: Limb-girdle muscle weakness
alt_id: HP:0008971
def: "Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Limb girdle weakness" EXACT []
synonym: "Muscle weakness, limb-girdle" EXACT []
synonym: "Muscular weakness, limb-girdle" EXACT []
xref: UMLS:C1858127
is_a: HP:0001324 ! Muscle weakness
is_a: HP:0009127 ! Abnormality of the musculature of the limbs

[Term]
id: HP:0003326
name: Myalgia
alt_id: HP:0003718
def: "Pain in muscle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Muscle ache" EXACT layperson [https://orcid.org/0000-0002-0736-9199]
synonym: "Muscle pain" EXACT layperson [https://orcid.org/0000-0002-0736-9199]
synonym: "Myalgias" RELATED plural_form [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:68962001
xref: UMLS:C0231528
is_a: HP:0012531 ! Pain

[Term]
id: HP:0003327
name: Axial muscle weakness
def: "Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs)." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1843697
is_a: HP:0001324 ! Muscle weakness

[Term]
id: HP:0003328
name: Abnormal hairshaft morphology
def: "An abnormal structure of the hairshaft, i.e., of the nongrowing portion of a hair that protrudes from the skin." []
xref: UMLS:C4025632
is_a: HP:0001595 ! Abnormal hair morphology

[Term]
id: HP:0003329
name: Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes
xref: UMLS:C4025631
is_a: HP:0003328 ! Abnormal hairshaft morphology

[Term]
id: HP:0003330
name: Abnormal bone structure
def: "Any anomaly in the composite material or the layered arrangement of the bony skeleton." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025630
is_a: HP:0011842 ! Abnormal skeletal morphology

[Term]
id: HP:0003332
name: Absent primary metaphyseal spongiosa
xref: UMLS:C3277126
is_a: HP:0005089 ! Abnormal metaphyseal trabeculation

[Term]
id: HP:0003333
name: Increased serum beta-hexosaminidase
alt_id: HP:0008299
comment: This enzyme removes a beta-1,4-linked N-acetylhexosamine residue from the GM2 ganglioside.
xref: UMLS:C2673361
is_a: HP:0011021 ! Abnormal circulating enzyme concentration

[Term]
id: HP:0003334
name: Elevated circulating catecholamine level
def: "An abnormal increase in catecholamine concentration in the blood." [https://orcid.org/0000-0002-0736-9199]
comment: Elevated circulating catecholamine level is a common feature in patients with pheochromocytoma.
xref: UMLS:C4025629
is_a: HP:0012099 ! Abnormality of circulating catecholamine level

[Term]
id: HP:0003335
name: obsolete Low gonadotropins (secondary hypogonadism)
is_obsolete: true
replaced_by: HP:0000044

[Term]
id: HP:0003336
name: Abnormal enchondral ossification
alt_id: HP:0003331
def: "An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage." [https://orcid.org/0000-0002-0736-9199]
comment: This term is intended to describe histological abnormalities of enchondral ossification observed upon bone biopsy.
xref: UMLS:C4025628
is_a: HP:0011849 ! Abnormal bone ossification

[Term]
id: HP:0003337
name: Reduced prothrombin consumption
alt_id: HP:0008172
def: "The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Poor prothrombin consumption" EXACT []
xref: UMLS:C4021732
is_a: HP:0012200 ! Abnormality of prothrombin

[Term]
id: HP:0003338
name: Focal necrosis of right ventricular muscle cells
xref: UMLS:C4025627
is_a: HP:0001637 ! Abnormal myocardium morphology

[Term]
id: HP:0003339
name: Pyrimidine-responsive megaloblastic anemia
def: "A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid." [https://orcid.org/0000-0002-0736-9199]
synonym: "Anaemia corrected by uridylic acid and cytidylic acid" EXACT uk_spelling []
synonym: "Anemia corrected by uridylic acid and cytidylic acid" EXACT []
synonym: "Pyrimidine-responsive megaloblastic anaemia" EXACT uk_spelling []
xref: UMLS:C4021731
is_a: HP:0001889 ! Megaloblastic anemia

[Term]
id: HP:0003340
name: obsolete Abnormal dermatological laboratory findings
is_obsolete: true
consider: HP:0000951

[Term]
id: HP:0003341
name: Lamina lucida cleavage
def: "The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin." [https://orcid.org/0000-0002-0736-9199]
comment: Cleavage within the lamina lucida is observed in junctional epidermolysis bullosa.
synonym: "Blistering with junctional split" EXACT []
synonym: "Junctional split" EXACT []
synonym: "Subepidermal blistering with cleavage in the lamina lucida" EXACT []
xref: UMLS:C4021730
is_a: HP:0033804 ! Subepidermal blistering

[Term]
id: HP:0003343
name: Reduced glutathione synthetase level
def: "Reduced level of the enzyme glutathione synthetase, which catalyzes the last step in the synthesis of glutathione and a deficiency results in low levels of glutathione. Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation of 5-oxoproline." [PMID:17397529]
synonym: "Glutathione synthetase deficiency" EXACT []
xref: SNOMEDCT_US:124706000
xref: SNOMEDCT_US:234589002
xref: SNOMEDCT_US:39112005
xref: UMLS:C0398746
is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity

[Term]
id: HP:0003344
name: 3-Methylglutaric aciduria
def: "An abnormally increased level of 3-hydroxy-3-methylglutaric acid in the urine." [PMID:19177531]
synonym: "3-methylglutaricaciduria" EXACT []
xref: UMLS:C3151952
is_a: HP:0031980 ! Abnormal urine carboxylic acid level

[Term]
id: HP:0003345
name: Elevated urinary norepinephrine level
def: "The concentration of noradrenaline in the urine, normalized for urine concentration, is above the upper limit of normal." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025626
is_a: HP:0011976 ! Elevated urinary catecholamine level

[Term]
id: HP:0003347
name: Impaired lymphocyte transformation with phytohemagglutinin
def: "Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes." [https://orcid.org/0000-0002-0736-9199]
comment: The response of lymphocytes to PHA is measured by their ability to transform and to undergo mitosis.
xref: UMLS:C4025625
is_a: HP:0004332 ! Abnormal lymphocyte morphology

[Term]
id: HP:0003348
name: Hyperalaninemia
def: "An increased concentration of alanine in the blood." [HPO_CONTRIBUTOR:gcarletti, PMID:16902722, PMID:4696900]
comment: This class referring to the clinical feature Hyperalaninemia and not to the disease entry. Normal alanine blood levels are around 350-400 micromole per liter.
synonym: "Increased blood alanine" EXACT layperson []
synonym: "Increased serum alanine" EXACT layperson []
xref: SNOMEDCT_US:2359002
xref: UMLS:C0268630
xref: UMLS:C1839424
xref: UMLS:C1849489
is_a: HP:0010916 ! Abnormal circulating alanine concentration

[Term]
id: HP:0003349
name: Low cholesterol esterification rate
def: "A reduction in the rate of cholesterol esterification." [https://orcid.org/0000-0002-0736-9199, PMID:3378364]
comment: Cholesterol esterification converts free cholesterol to cholesteryl esters between the carboxylate group of a fatty acid and the hydroxyl group of cholesterol. Esterification allows more cholesterol to be packaged into the interior of lipoproteins. Cholesterol esterification rates can be measured in skin fibroblasts using for instance a non-lipoprotein [3H]cholesterol source.
xref: UMLS:C1843371
is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity

[Term]
id: HP:0003351
name: Decreased circulating renin concentration
alt_id: HP:0003263
def: "An decreased level of renin in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased circulating renin level" EXACT []
synonym: "Decreased plasma renin activity" EXACT []
synonym: "Low plasma renin activity" EXACT []
synonym: "Suppressed plasma renin activity" EXACT []
xref: UMLS:C1845206
is_a: HP:0040084 ! Abnormal circulating renin concentration

[Term]
id: HP:0003352
name: Endopolyploidy on chromosome studies of bone marrow
def: "An increase in the number of chromosome sets per cell in bone marrow cells." [https://orcid.org/0000-0002-0736-9199]
comment: Endopolyploidy is caused by replication without cell division.
xref: UMLS:C4025624
is_a: HP:0002916 ! Abnormality of chromosome segregation

[Term]
id: HP:0003353
name: Propionyl-CoA carboxylase deficiency
def: "An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase." [https://orcid.org/0000-0002-0736-9199]
comment: Propionyl-CoA is an important intermediate in the metabolism of several amino acids and is also produced by oxidation of odd-numbered fatty acids.
xref: SNOMEDCT_US:124718009
xref: SNOMEDCT_US:69080001
xref: UMLS:C0268579
is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity

[Term]
id: HP:0003354
name: Hyperthreoninemia
def: "An increased concentration of threonine in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Elevated circulating threonine" EXACT []
synonym: "High blood threonine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1848861
is_a: HP:0010900 ! Abnormal circulating threonine concentration

[Term]
id: HP:0003355
name: Aminoaciduria
alt_id: HP:0002903
alt_id: HP:0008335
alt_id: HP:0200014
def: "An increased concentration of an amino acid in the urine." [https://orcid.org/0000-0002-5316-1399]
synonym: "Abnormal urinary amino-acid findings" RELATED layperson []
synonym: "High urine amino acid levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Hyperaminoaciduria" EXACT []
synonym: "Increased levels of animo acids in urine" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:35912001
xref: UMLS:C0238621
xref: UMLS:C4020843
is_a: HP:0025745 ! Abnormal urine amino acid level

[Term]
id: HP:0003357
name: Thymic hormone decreased
def: "A reduction in the level of thymic horomone." [PMID:7058086]
synonym: "Decreased thymic hormone" EXACT []
xref: UMLS:C1857652
is_a: HP:0000777 ! Abnormal thymus morphology

[Term]
id: HP:0003358
name: Elevated intracellular cystine
def: "An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells." [https://orcid.org/0000-0002-0736-9199]
comment: Cystine is a dimeric amino acid formed by the oxidation of two cysteine residues to form a disulfide bond.
xref: UMLS:C4025623
is_a: HP:0011017 ! Abnormal cellular physiology

[Term]
id: HP:0003359
name: Decreased urinary sulfate
def: "Decreased concentration of sulfate in the urine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased urinary sulfate" EXACT layperson []
synonym: "Decreased urinary sulphate" EXACT uk_spelling []
xref: UMLS:C1848958
is_a: HP:0012612 ! Abnormal urinary sulfate concentration

[Term]
id: HP:0003361
name: Tryptophanuria
def: "An increased concentration of tryptophan in the urine." [HPO_CONTRIBUTOR:gcarletti, PMID:18901181]
comment: Normal urinary tryptophan total (free and combined form) excretion is around 40 mg per 24 hours.
synonym: "High urine tryptophan levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:18789002
xref: UMLS:C0268472
is_a: HP:0033090 ! Increased aromatic amino acid level in urine

[Term]
id: HP:0003362
name: Increased VLDL cholesterol concentration
def: "An increase in the amount of very-low-density lipoprotein cholesterol in the blood." [HPO_CONTRIBUTOR:gcarletti]
synonym: "Increased circulating very-low-density lipoprotein cholesterol" EXACT []
synonym: "Increased circulating very-low-density lipoprotein levels" EXACT []
synonym: "Increased plasma VLDL cholesterol" EXACT abbreviation []
xref: UMLS:C4021729
is_a: HP:0010980 ! Hyperlipoproteinemia
is_a: HP:0031889 ! Abnormal VLDL cholesterol concentration

[Term]
id: HP:0003363
name: Abdominal situs inversus
def: "A left-right reversal (or mirror reflection) of the anatomical location of the viscera of the abdomen." [https://orcid.org/0000-0002-0736-9199]
synonym: "Situs inversus visceralis" EXACT []
synonym: "Situs inversus viscerum" EXACT []
xref: Fyler:3816
xref: SNOMEDCT_US:27317008
xref: SNOMEDCT_US:43876007
xref: UMLS:C0037221
is_a: HP:0011620 ! Abnormality of abdominal situs

[Term]
id: HP:0003365
name: Arthralgia of the hip
def: "Joint pain affecting the hip." [https://orcid.org/0000-0002-0736-9199]
synonym: "Coxalgia" EXACT []
synonym: "Hip arthralgia" EXACT []
synonym: "Hip joint pain" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:49218002
xref: UMLS:C0019559
is_a: HP:0003272 ! Abnormal hip bone morphology

[Term]
id: HP:0003366
name: Abnormal femoral neck/head morphology
synonym: "Abnormal neck or head of thigh bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the femoral neck or head region" EXACT []
xref: UMLS:C4025622
is_a: HP:0002823 ! Abnormal femur morphology

[Term]
id: HP:0003367
name: Abnormal femoral neck morphology
def: "An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal neck of thigh bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the femoral neck" EXACT []
xref: UMLS:C4025621
is_a: HP:0003366 ! Abnormal femoral neck/head morphology

[Term]
id: HP:0003368
name: Abnormal femoral head morphology
def: "An abnormality of the femoral head." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal head of thigh bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the femoral head" EXACT []
xref: UMLS:C4025620
is_a: HP:0003366 ! Abnormal femoral neck/head morphology

[Term]
id: HP:0003370
name: Flat capital femoral epiphysis
alt_id: HP:0006393
def: "An abnormal flattening of the proximal epiphysis of the femur." [https://orcid.org/0000-0002-0736-9199]
synonym: "Flat capital femoral epiphyses" EXACT []
synonym: "Flat end part of innermost thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Flat femoral capital epiphyses" EXACT []
synonym: "Flat proximal femoral epiphyses" EXACT []
synonym: "Flattened proximal femoral epiphyses" EXACT []
xref: UMLS:C1842155
is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head
is_a: HP:0030289 ! Flattened femoral epiphysis

[Term]
id: HP:0003371
name: Enlargement of the proximal femoral epiphysis
def: "An abnormal enlargement of the proximal epiphysis of the femur." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlarged capital femoral epiphyses" EXACT []
synonym: "Enlarged end part of innermost thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1859697
is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head
is_a: HP:0010580 ! Enlarged epiphyses

[Term]
id: HP:0003375
name: Narrow greater sciatic notch
alt_id: HP:0008803
alt_id: HP:0008805
alt_id: HP:0008813
alt_id: HP:0008840
alt_id: HP:0008842
def: "A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium." [https://orcid.org/0000-0002-0736-9199]
comment: The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the lateral dimension of the notch.
synonym: "Narrow greater sacrosciatic notches" EXACT plural_form []
synonym: "Narrow sacroiliac notch" EXACT []
synonym: "Narrow sacrosciatic notch" EXACT []
synonym: "Narrow sciatic notches" EXACT []
synonym: "Narrowed greater sciatic notch" EXACT []
synonym: "Narrowed sacrosciatic notch" EXACT []
synonym: "Small sacrosciatic notch" EXACT []
synonym: "Small sacrosciatic notches" EXACT []
xref: SNOMEDCT_US:289457006
xref: UMLS:C0566888
is_a: HP:0010456 ! Abnormal greater sciatic notch morphology

[Term]
id: HP:0003376
name: Steppage gait
def: "An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again." [https://orcid.org/0000-0002-0736-9199, PMID:27770207]
synonym: "High stepping" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:27253007
xref: UMLS:C0427149
is_a: HP:0001288 ! Gait disturbance

[Term]
id: HP:0003378
name: Axonal degeneration/regeneration
def: "A pattern of simultaneous degeneration and regeneration of axons (see comment)." [https://orcid.org/0000-0002-0736-9199]
comment: This finding is typically demonstrated by nerve biopsy. Following focal damage to an axon, the part of the axon that is distal to the lesion invariably degenerates, a process that is known as anterograde (or Wallerian) degeneration. During Wallerian degeneration, often a microenvironment is created that can allow successful regrowth of nerve fibers from the proximal nerve segment.
synonym: "Axon degeneration and regeneration" EXACT []
xref: UMLS:C1968790
is_a: HP:0000764 ! Peripheral axonal degeneration

[Term]
id: HP:0003380
name: Decreased number of peripheral myelinated nerve fibers
alt_id: HP:0003385
alt_id: HP:0003386
alt_id: HP:0007093
alt_id: HP:0007135
alt_id: HP:0007177
alt_id: HP:0007320
alt_id: HP:0007322
def: "A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy)." [https://orcid.org/0000-0002-0736-9199]
comment: This finding can be demonstrated by nerve biopsy.
synonym: "Decreased number of large and small myelinated fibers" EXACT []
synonym: "Decreased number of large and small myelinated fibres" EXACT uk_spelling []
synonym: "Decreased number of peripheral myelinated nerve fibres" EXACT uk_spelling []
synonym: "Loss of myelinated fibers" EXACT []
synonym: "Loss of myelinated fibres" EXACT uk_spelling []
xref: UMLS:C1858285
is_a: HP:0003130 ! Abnormal peripheral myelination

[Term]
id: HP:0003382
name: Hypertrophic nerve changes
xref: UMLS:C1832776
is_a: HP:0000759 ! Abnormal peripheral nervous system morphology

[Term]
id: HP:0003383
name: Onion bulb formation
alt_id: HP:0003389
alt_id: HP:0007013
alt_id: HP:0007022
alt_id: HP:0007084
alt_id: HP:0008276
def: "Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves." [https://orcid.org/0000-0002-0736-9199]
comment: This feature is characteristic of chronic demyelinating neuropathies as well as certain hereditary neuropathies. Onion-bulb formation may be observed in electron microscopic examinations of peripheral nerve biopsy material. Often, this examination is performed on the sural nerve.
synonym: "Onion bulb formations" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1847906
is_a: HP:0003130 ! Abnormal peripheral myelination

[Term]
id: HP:0003384
name: Peripheral axonal atrophy
def: "Atrophic changes of axons of the peripheral nervous system." [https://orcid.org/0000-0002-0736-9199]
comment: This finding is typically demonstrated by nerve biopsy.
xref: UMLS:C4025619
is_a: HP:0000764 ! Peripheral axonal degeneration

[Term]
id: HP:0003387
name: Decreased number of large peripheral myelinated nerve fibers
alt_id: HP:0006868
alt_id: HP:0007031
alt_id: HP:0007315
def: "A reduced number of large myelinated nerve fibers." [https://orcid.org/0000-0002-0736-9199]
comment: This finding can be demonstrated by nerve biopsy.
synonym: "Decreased number of large peripheral myelinated nerve fibres" EXACT uk_spelling []
synonym: "Depletion of large myelinated fibers" EXACT []
synonym: "Depletion of large myelinated fibres" EXACT uk_spelling []
synonym: "Loss of large myelinated fibers" EXACT []
synonym: "Loss of large myelinated fibres" EXACT uk_spelling []
synonym: "Loss of larger myelinated nerve fibers" EXACT []
synonym: "Loss of larger myelinated nerve fibres" EXACT uk_spelling []
xref: UMLS:C1859606
is_a: HP:0003380 ! Decreased number of peripheral myelinated nerve fibers

[Term]
id: HP:0003388
name: Easy fatigability
def: "Increased susceptibility to fatigue." [https://orcid.org/0000-0002-0736-9199]
comment: Fatigue describes the inability to continue performing a task after multiple repetitions.
synonym: "Tired easily" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:248268002
xref: UMLS:C0424585
xref: UMLS:C1837098
is_a: HP:0004302 ! Functional motor deficit
is_a: HP:0012638 ! Abnormal nervous system physiology

[Term]
id: HP:0003390
name: Sensory axonal neuropathy
alt_id: HP:0006883
alt_id: HP:0007248
alt_id: HP:0007345
def: "An axonal neuropathy of peripheral sensory nerves." [https://orcid.org/0000-0002-0736-9199]
synonym: "Axonal sensory neuropathy" EXACT []
synonym: "Peripheral sensory axonal neuropathy" RELATED []
xref: UMLS:C1842587
xref: UMLS:C1970883
is_a: HP:0000763 ! Sensory neuropathy
is_a: HP:0003477 ! Peripheral axonal neuropathy

[Term]
id: HP:0003391
name: Gowers sign
def: "A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Gower sign" EXACT []
synonym: "Positive Gower sign" EXACT []
synonym: "Positive Gowers sign" EXACT []
xref: SNOMEDCT_US:298294005
xref: SNOMEDCT_US:85905009
xref: UMLS:C0234182
xref: UMLS:C0575071
is_a: HP:0003701 ! Proximal muscle weakness

[Term]
id: HP:0003392
name: First dorsal interossei muscle weakness
xref: UMLS:C1832277
is_a: HP:0002460 ! Distal muscle weakness

[Term]
id: HP:0003393
name: Thenar muscle atrophy
def: "Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb." []
synonym: "Thenar atrophy" EXACT []
xref: UMLS:C1864715
is_a: HP:0009130 ! Hand muscle atrophy

[Term]
id: HP:0003394
name: Muscle spasm
alt_id: HP:0009018
alt_id: HP:0031988
def: "Sudden and involuntary contractions of one or more muscles." [https://orcid.org/0000-0002-0736-9199]
synonym: "Muscle cramps" EXACT plural_form []
synonym: "Muscle spasms" EXACT plural_form []
xref: SNOMEDCT_US:55300003
xref: UMLS:C0026821
is_a: HP:0011804 ! Abnormal muscle physiology

[Term]
id: HP:0003396
name: Syringomyelia
alt_id: HP:0006933
def: "Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord." [https://orcid.org/0009-0006-4530-3154]
synonym: "Fluid-filled cyst in spinal cord" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Syrinx" EXACT []
xref: SNOMEDCT_US:111496009
xref: UMLS:C0039144
is_a: HP:0100561 ! Spinal cord lesion

[Term]
id: HP:0003397
name: Generalized hypotonia due to defect at the neuromuscular junction
synonym: "Generalised hypotonia due to defect at the neuromuscular junction" EXACT uk_spelling []
xref: UMLS:C1853950
is_a: HP:0001290 ! Generalized hypotonia
is_a: HP:0003398 ! Abnormal synaptic transmission at the neuromuscular junction

[Term]
id: HP:0003398
name: Abnormal synaptic transmission at the neuromuscular junction
def: "Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of neuromuscular transmission" RELATED []
xref: UMLS:C4020842
xref: UMLS:C4025618
is_a: HP:0030191 ! Abnormal peripheral nervous system synaptic transmission

[Term]
id: HP:0003400
name: Basal lamina onion bulb formation
def: "A type of onion bulb formation prominently affecting the area of the basal lamina." [https://orcid.org/0000-0002-0736-9199]
synonym: "Basal lamina 'onion bulb' formations on nerve biopsy" EXACT []
xref: UMLS:C1866637
is_a: HP:0003383 ! Onion bulb formation

[Term]
id: HP:0003401
name: Paresthesia
alt_id: HP:0002082
def: "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [https://orcid.org/0000-0002-0736-9199]
synonym: "Paresthesias" EXACT []
synonym: "Pins and needles feeling" EXACT layperson []
synonym: "Tingling" EXACT layperson []
xref: SNOMEDCT_US:91019004
xref: UMLS:C0030554
is_a: HP:0033747 ! Abnormal exteroceptive sensation

[Term]
id: HP:0003402
name: Decreased miniature endplate potentials
def: "An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction." [https://orcid.org/0000-0002-0736-9199]
comment: Miniature end plate potentials are the small (about 0.5mV) depolarisations of the postsynaptic terminal caused by the release of a single vesicle into the synaptic cleft.
synonym: "Decreased MEPP" EXACT []
synonym: "Small miniature endplate currents" EXACT []
synonym: "Small miniature endplate potentials" EXACT []
xref: UMLS:C1853952
is_a: HP:0003398 ! Abnormal synaptic transmission at the neuromuscular junction

[Term]
id: HP:0003403
name: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
alt_id: HP:0003430
alt_id: HP:0003478
def: "A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation." [https://orcid.org/0000-0002-0736-9199]
comment: The result of this test is abnormal if progressively fewer muscle fibers respond to nerve stimulation during a train of stimuli, thereby yielding a decrementing pattern in the CMAP.
synonym: "EMG: decrement at repetitive stimulation" RELATED []
synonym: "EMG: decremental response of CMAP to repetitive nerve stimulation" EXACT []
xref: UMLS:C4020841
xref: UMLS:C4021728
is_a: HP:0100285 ! EMG: impaired neuromuscular transmission

[Term]
id: HP:0003405
name: Diffuse axonal swelling
xref: UMLS:C1865417
is_a: HP:0000759 ! Abnormal peripheral nervous system morphology

[Term]
id: HP:0003406
name: Peripheral nerve compression
xref: UMLS:C1851414
is_a: HP:0000759 ! Abnormal peripheral nervous system morphology

[Term]
id: HP:0003409
name: Distal sensory impairment of all modalities
alt_id: HP:0006984
def: "Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities." []
synonym: "Distal sensory loss to all modalities" EXACT []
xref: UMLS:C1836527
is_a: HP:0000763 ! Sensory neuropathy

[Term]
id: HP:0003411
name: Proximal femoral metaphyseal irregularity
def: "Irregularity of the normally smooth surface of the proximal metaphysis of the femur." []
synonym: "Irregular proximal femoral metaphyses" EXACT []
xref: UMLS:C1836320
is_a: HP:0003366 ! Abnormal femoral neck/head morphology
is_a: HP:0006431 ! Abnormal proximal femoral metaphysis morphology
is_a: HP:0030291 ! Lower-limb metaphyseal irregularity

[Term]
id: HP:0003413
name: Atlantoaxial abnormality
def: "An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025617
is_a: HP:0000925 ! Abnormality of the vertebral column

[Term]
id: HP:0003414
name: Atlantoaxial dislocation
def: "Partial dislocation of the atlantoaxial joint." [https://orcid.org/0000-0002-0736-9199]
synonym: "Atlanto-axial subluxation" EXACT []
synonym: "Atlantoaxial subluxation" EXACT []
xref: SNOMEDCT_US:263042007
xref: SNOMEDCT_US:45179004
xref: UMLS:C0263905
is_a: HP:0003413 ! Atlantoaxial abnormality

[Term]
id: HP:0003416
name: Spinal canal stenosis
alt_id: HP:0008446
def: "An abnormal narrowing of the spinal canal." [https://orcid.org/0000-0002-0736-9199]
comment: Stenosis of the spinal canal can result in neurological symptoms because of compression of the spinal cord or spinal nerve roots, depending on the location of the stenosis in the vertebral column.
subset: hposlim_core
synonym: "Narrow spinal canal" EXACT layperson []
synonym: "Spinal stenosis" EXACT []
xref: UMLS:C1861329
is_a: HP:0000925 ! Abnormality of the vertebral column

[Term]
id: HP:0003417
name: Coronal cleft vertebrae
alt_id: HP:0003673
def: "Frontal schisis (cleft or cleavage) of vertebral bodies." [https://orcid.org/0000-0002-0736-9199]
comment: Coronal cleft vertebrae result when there are two, instead of one, primary ossification centers in a vertebral body. An unossified cartilaginous brdige may be observed radiographically with the shape of a cleft. If the two ossification centers are ventral/dorsal, a coronal cleft is observed, and if the two ossification centers are left/right, than a sagittal cleft is observed.
synonym: "coronal cleft of vertebrae" EXACT []
synonym: "Coronal clefts" EXACT []
synonym: "Coronal vertebral clefts" EXACT []
synonym: "Vertebral coronal clefts" EXACT []
xref: UMLS:C1834954
is_a: HP:0008428 ! Vertebral clefting

[Term]
id: HP:0003418
name: Back pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back." []
synonym: "Back pain" EXACT layperson []
xref: SNOMEDCT_US:161891005
xref: UMLS:C0004604
is_a: HP:0000925 ! Abnormality of the vertebral column
is_a: HP:0012531 ! Pain

[Term]
id: HP:0003419
name: Low back pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back." []
synonym: "Lower back pain" EXACT []
synonym: "Lumbago" EXACT layperson []
xref: SNOMEDCT_US:279039007
xref: UMLS:C0024031
is_a: HP:0003418 ! Back pain

[Term]
id: HP:0003421
name: obsolete Platyspondyly (childhood)
is_obsolete: true
replaced_by: HP:0000926

[Term]
id: HP:0003422
name: Vertebral segmentation defect
alt_id: HP:0005705
def: "An abnormality related to a defect of vertebral separation during development." [https://orcid.org/0000-0002-0736-9199, PMID:23653580, PMID:23801490]
comment: The vertebral column derives from somites, transient paired segments of mesoderm that surround the neural tube in the early embryo. The formation of the vertebrar involves many processes including resegmentation of the rostral and caudal regions of adjacent somites that then fuse to form vertebral elements. Disruption of these processes can a cause of severe segmentation defects of the vetebrae. The frequency of segmentation defects of the vetebra has been estimated at 0.5 of 1000 births. The range of segmentation defects includes left-right uneven formation of somites that results in hemivertebrae or wedge vertebrae. Incomplete segmentation can result in fused segments such as block vertebrae. A failure of the process of resegmentation and migration of the sclerotomal compartment can result in a failure of midline fusion, such as butterfly vertebrae.
subset: hposlim_core
synonym: "Abnormal spinal segmentation" EXACT []
xref: SNOMEDCT_US:205455005
xref: UMLS:C0432163
is_a: HP:0003468 ! Abnormal vertebral morphology

[Term]
id: HP:0003423
name: Thoracolumbar kyphoscoliosis
synonym: "Dorsolumbar kyphosis" EXACT []
xref: UMLS:C1859335
is_a: HP:0002751 ! Kyphoscoliosis
is_a: HP:0002944 ! Thoracolumbar scoliosis
is_a: HP:0005619 ! Thoracolumbar kyphosis

[Term]
id: HP:0003426
name: First dorsal interossei muscle atrophy
xref: UMLS:C1832278
is_a: HP:0007181 ! Interosseus muscle atrophy

[Term]
id: HP:0003427
name: Thenar muscle weakness
xref: UMLS:C1832276
is_a: HP:0030237 ! Hand muscle weakness

[Term]
id: HP:0003429
name: CNS hypomyelination
def: "Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:111007000
xref: UMLS:C0544820
xref: UMLS:C4025616
is_a: HP:0011400 ! Abnormal CNS myelination

[Term]
id: HP:0003431
name: Decreased motor nerve conduction velocity
alt_id: HP:0000760
alt_id: HP:0003379
alt_id: HP:0003395
alt_id: HP:0003437
alt_id: HP:0006907
alt_id: HP:0008170
def: "A type of decreased nerve conduction velocity that affects the motor neuron." [https://orcid.org/0000-0002-0736-9199]
comment: Newborn infants have values that are approximately half that of adults, and adult values are normally reached by age 3 or 4. Motor nerve conduction is evaluated by recording the compound muscle action potential (CMAP) associated with a mechanical contraction of a given muscle in response to electrical stimulation of the motor nerve fibers supplying that muscle. The CMAP is the sum of all the action potentials occurring individually in the contracting muscle fibers.
synonym: "Decreased motor NCV" EXACT []
synonym: "Decreased motor nerve conduction velocities" EXACT []
synonym: "Reduced motor nerve conduction velocity" EXACT []
xref: UMLS:C1858729
is_a: HP:0000762 ! Decreased nerve conduction velocity
is_a: HP:0040131 ! Abnormal motor nerve conduction velocity

[Term]
id: HP:0003434
name: Sensory ataxic neuropathy
xref: UMLS:C1843859
is_a: HP:0000763 ! Sensory neuropathy

[Term]
id: HP:0003435
name: Cold-induced hand cramps
xref: UMLS:C1832279
is_a: HP:0003449 ! Cold-induced muscle cramps

[Term]
id: HP:0003436
name: Prolonged miniature endplate currents
alt_id: HP:0003479
def: "An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Prolonged MEPC" EXACT []
synonym: "Prolonged MEPP" EXACT []
synonym: "Prolonged miniature endplate potentials" EXACT []
xref: UMLS:C1864238
is_a: HP:0003398 ! Abnormal synaptic transmission at the neuromuscular junction

[Term]
id: HP:0003438
name: Absent Achilles reflex
alt_id: HP:0007032
alt_id: HP:0007241
def: "Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent ankle reflexes" EXACT layperson []
xref: SNOMEDCT_US:274818004
xref: UMLS:C0558845
is_a: HP:0200101 ! Decreased/absent ankle reflexes

[Term]
id: HP:0003440
name: Horizontal sacrum
subset: hposlim_core
xref: UMLS:C1850558
is_a: HP:0005107 ! Abnormal sacrum morphology

[Term]
id: HP:0003443
name: Decreased size of nerve terminals
def: "A reduction in the size of nerve terminals." [https://orcid.org/0000-0002-0736-9199]
comment: Nerve terminals are the output region of nerves located presynaptically and (in the case of chemical synapses) containing vesicles of chemical neurotransmitters. Presynaptic nerve terminals normally are larger in diameter than the axon and have the appearance of a bud. This feature can be demonstrated by muscle biopsy.
xref: UMLS:C4025615
is_a: HP:0000759 ! Abnormal peripheral nervous system morphology

[Term]
id: HP:0003444
name: EMG: chronic denervation signs
alt_id: HP:0007059
def: "Evidence of chronic denervation on electromyography." [https://orcid.org/0000-0002-0736-9199]
comment: This is a bundled term that is kept for convenience. It is preferable to annotate the precise clinical abnormalities observed.
xref: UMLS:C4025614
is_a: HP:0003445 ! EMG: neuropathic changes

[Term]
id: HP:0003445
name: EMG: neuropathic changes
alt_id: HP:0002178
alt_id: HP:0002547
alt_id: HP:0007279
def: "The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials)." [https://orcid.org/0000-0002-0736-9199]
comment: This is a bundled term. It is preferable to annotate the precise clinical observations, but the term is kept now for convenience.
synonym: "EMG: neurogenic abnormalities" EXACT []
synonym: "EMG: neurogenic changes" EXACT []
synonym: "EMG: neurogenic findings" EXACT []
xref: UMLS:C4021727
is_a: HP:0003457 ! EMG abnormality

[Term]
id: HP:0003447
name: Axonal loss
alt_id: HP:0003360
def: "A reduction in the number of axons in the peripheral nervous system." [https://orcid.org/0000-0002-0736-9199]
comment: This finding can be observed upon nerve biopsy.
xref: UMLS:C1832338
is_a: HP:0000764 ! Peripheral axonal degeneration

[Term]
id: HP:0003448
name: Decreased sensory nerve conduction velocity
alt_id: HP:0006914
def: "Reduced speed of conduction of the action potential along a sensory nerve." [https://orcid.org/0000-0002-0736-9199]
comment: The sensory nerve action potential (SNAP) in response to electrical stimulation is recorded from the nerve itself by means of dermal recording electrodes. The SNAP is the sum of all the action potentials generated in sensory nerve fibers by the applied electrical impulse.
synonym: "Decreased sensory NCV" EXACT []
synonym: "Decreased sensory nerve conduction velocities" EXACT []
xref: UMLS:C1849148
is_a: HP:0000762 ! Decreased nerve conduction velocity
is_a: HP:0040132 ! Abnormal sensory nerve conduction velocity

[Term]
id: HP:0003449
name: Cold-induced muscle cramps
def: "Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1861675
is_a: HP:0003394 ! Muscle spasm

[Term]
id: HP:0003450
name: Axonal regeneration
def: "The presence of axonal regeneration following a previous axonal lesion." [https://orcid.org/0000-0002-0736-9199]
comment: This finding is typically demonstrated by nerve biopsy. See the comment of term HP:0003378 for further information.
synonym: "Regenerative activity on nerve biopsy" EXACT []
xref: UMLS:C1854454
is_a: HP:0000764 ! Peripheral axonal degeneration

[Term]
id: HP:0003451
name: Increased rate of premature chromosome condensation
def: "An increased rate of premature chromosome condensation." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025613
is_a: HP:0011019 ! Abnormality of chromosome condensation

[Term]
id: HP:0003452
name: Increased circulating iron concentration
def: "The concentration of iron in the blood circulation is above the upper limit of normal." []
synonym: "Increased serum iron" EXACT []
xref: SNOMEDCT_US:165624002
xref: UMLS:C0151900
is_a: HP:0040130 ! Abnormal circulating iron concentration

[Term]
id: HP:0003453
name: Antineutrophil antibody positivity
def: "The presence of autoantibodies in the serum that react against neutrophils." [https://orcid.org/0000-0002-0736-9199]
comment: Circulating serum antibodies are measured by flow cytometry after incubation with normal neutrophils. Values greater than 2 standard deviations of a normal control population are interpreted as weakly positive and greater than 3 standard deviations as positive.
synonym: "Antineutrophil antibodies" EXACT []
synonym: "Neutrophil antibody positive" EXACT []
xref: UMLS:C1858981
is_a: HP:0030057 ! Autoimmune antibody positivity

[Term]
id: HP:0003454
name: Platelet antibody positive
def: "The presence in the serum of autoantibodies directed against thrombocytes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Platelet antibody" EXACT []
xref: UMLS:C1858980
is_a: HP:0030057 ! Autoimmune antibody positivity

[Term]
id: HP:0003455
name: Elevated circulating long chain fatty acid concentration
alt_id: HP:0008333
alt_id: HP:0045016
def: "Increased concentration of long-chain fatty acids in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
comment: This feature can be measured in plasma, as well as in cultured fibroblasts of amniocytes.
synonym: "Elevated long chain fatty acids" EXACT []
synonym: "Elevated serum long-chain fatty acids" EXACT []
synonym: "Increased serum long-chain fatty acids" EXACT []
xref: UMLS:C1859241
is_a: HP:0010964 ! Abnormal circulating long-chain fatty-acid concentration

[Term]
id: HP:0003456
name: Low urinary cyclic AMP response to PTH administration
xref: UMLS:C1864105
is_a: HP:0003110 ! Abnormality of urine homeostasis

[Term]
id: HP:0003457
name: EMG abnormality
alt_id: HP:0002177
alt_id: HP:0003751
alt_id: HP:0003753
alt_id: HP:0100286
def: "Abnormal results of investigations using electromyography (EMG)." [https://orcid.org/0000-0002-0736-9199, PMID:15961866, PMID:18751841]
synonym: "Abnormal electromyography finding" EXACT []
synonym: "Abnormal EMG" EXACT []
synonym: "Electromyogram abnormal" EXACT []
synonym: "EMG abnormalities" EXACT []
xref: SNOMEDCT_US:274523007
xref: UMLS:C0476403
is_a: HP:0011804 ! Abnormal muscle physiology

[Term]
id: HP:0003458
name: EMG: myopathic abnormalities
alt_id: HP:0003322
alt_id: HP:0003711
alt_id: HP:0009021
def: "The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials." [https://orcid.org/0000-0002-0736-9199]
synonym: "EMG: myopathic changes" EXACT []
synonym: "EMG: myopathy" EXACT []
synonym: "Myopathic electromyogram" EXACT []
xref: UMLS:C4021726
is_a: HP:0003198 ! Myopathy
is_a: HP:0003457 ! EMG abnormality

[Term]
id: HP:0003459
name: Polyclonal elevation of IgM
def: "A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis." [PMID:11508831]
xref: UMLS:C4025612
is_a: HP:0003496 ! Increased circulating IgM level

[Term]
id: HP:0003460
name: Decreased circulating total IgA
def: "Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased total IgA in blood" EXACT []
synonym: "Total immunoglobulin A deficiency" EXACT []
xref: UMLS:C4025611
is_a: HP:0002720 ! Decreased circulating IgA concentration

[Term]
id: HP:0003461
name: Increased urinary O-linked sialopeptides
def: "Excretion of peptides conjugated to sialic acid in the urine." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1836533
is_a: HP:0012067 ! Glycopeptiduria

[Term]
id: HP:0003462
name: Elevated 8-dehydrocholesterol
xref: UMLS:C1840013
is_a: HP:0003107 ! Abnormal circulating cholesterol concentration

[Term]
id: HP:0003463
name: Increased extraneuronal autofluorescent lipopigment
def: "Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient." [https://orcid.org/0000-0002-0736-9199, PMID:11406682]
synonym: "Lipopigment in extraneuronal cells" RELATED []
xref: UMLS:C1859828
is_a: HP:0011813 ! Increased cerebral lipofuscin

[Term]
id: HP:0003464
name: obsolete Abnormal cholesterol homeostasis
is_obsolete: true
replaced_by: HP:0003107

[Term]
id: HP:0003465
name: Elevated 8(9)-cholestenol
xref: UMLS:C1840014
is_a: HP:0003107 ! Abnormal circulating cholesterol concentration

[Term]
id: HP:0003466
name: Paradoxical increased cortisol secretion on dexamethasone suppression test
xref: UMLS:C1968855
is_a: HP:0011731 ! Abnormality of circulating cortisol level

[Term]
id: HP:0003467
name: Atlantoaxial instability
def: "Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly." [https://orcid.org/0000-0002-0736-9199]
comment: Neurological deficits ensue if the odontoid process, or posterior arch of the atlas, impinges on the spinal cord.
subset: hposlim_core
xref: SNOMEDCT_US:202820009
xref: UMLS:C0410653
is_a: HP:0003413 ! Atlantoaxial abnormality

[Term]
id: HP:0003468
name: Abnormal vertebral morphology
alt_id: HP:0005719
def: "An abnormality of one or more of the vertebrae." [https://orcid.org/0000-0002-0736-9199]
comment: A vertebra is one of 33 bony segments that form the spinal column of humans. There are 7 cervical, 12 thoracic, 5 lumbar, 5 sacral and 4 coccygeal vertebrae (the coccygeal vertebrae are fused into one coccyx bone).
synonym: "Abnormal vertebrae" EXACT []
synonym: "Abnormality of the vertebrae" EXACT []
synonym: "Multiple vertebral anomalies" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Vertebral anomalies" EXACT []
xref: Fyler:4108
xref: SNOMEDCT_US:205043005
xref: SNOMEDCT_US:74877002
xref: UMLS:C0158775
xref: UMLS:C4020839
xref: UMLS:C4020840
is_a: HP:0000925 ! Abnormality of the vertebral column

[Term]
id: HP:0003469
name: Peripheral dysmyelination
def: "Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025610
is_a: HP:0003130 ! Abnormal peripheral myelination

[Term]
id: HP:0003470
name: Paralysis
def: "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement." [https://orcid.org/0000-0002-0736-9199]
synonym: "Inability to move" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Paralysis" EXACT layperson []
xref: SNOMEDCT_US:44695005
xref: UMLS:C0522224
is_a: HP:0011442 ! Abnormal central motor function

[Term]
id: HP:0003472
name: Hypocalcemic tetany
def: "Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:190869004
xref: UMLS:C0151940
is_a: HP:0002901 ! Hypocalcemia
is_a: HP:0012638 ! Abnormal nervous system physiology

[Term]
id: HP:0003473
name: Fatigable weakness
alt_id: HP:0003399
alt_id: HP:0003428
alt_id: HP:0100794
def: "A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [https://orcid.org/0000-0002-0736-9199]
comment: This type of weakness is pathognomonic for an abnormality of the neuromuscular junction such as myasthenia gravis. A characteristic form of muscular weakness that worsens after use of affected muscles. Myasthenia is caused by failure of neuromuscular transmission, which results from the binding of autoantibodies to proteins involved in signaling at the neuromuscular junction, including especially the nicotinic acetyl choline receptor (AChR) or, less frequently, a muscle-specific tyrosine kinase involved in AChR clustering.
synonym: "Fatigable weakness of limb muscles" EXACT []
synonym: "Generalised muscle weakness due to defect at the neuromuscular junction" EXACT uk_spelling []
synonym: "Generalized muscle weakness due to defect at the neuromuscular junction" EXACT []
synonym: "Myasthenia" EXACT []
synonym: "Myasthenic weakness" EXACT []
synonym: "Proximal muscle weakness due to defect at the neuromuscular junction" EXACT []
xref: UMLS:C0947912
is_a: HP:0001324 ! Muscle weakness
is_a: HP:0003398 ! Abnormal synaptic transmission at the neuromuscular junction

[Term]
id: HP:0003474
name: Somatic sensory dysfunction
alt_id: HP:0100964
def: "An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing." [https://orcid.org/0000-0002-0736-9199]
comment: This term does not include abnormalities of cortical sensation such as two-point discrimination, stereognosis, and graphesthesia.
synonym: "Sensory impairment" EXACT []
xref: SNOMEDCT_US:397974008
xref: SNOMEDCT_US:398026008
xref: SNOMEDCT_US:59073000
xref: UMLS:C0020580
is_a: HP:0012638 ! Abnormal nervous system physiology

[Term]
id: HP:0003477
name: Peripheral axonal neuropathy
alt_id: HP:0006814
alt_id: HP:0006842
alt_id: HP:0007169
alt_id: HP:0008304
def: "An abnormality characterized by disruption of the normal functioning of peripheral axons." [https://orcid.org/0000-0002-0736-9199]
comment: This abnormality can be assay by electromyography (EMG) or by nerve biopsy.
synonym: "Axonal neuropathy" EXACT []
synonym: "Axonal peripheral neuropathy" EXACT []
xref: SNOMEDCT_US:128208007
xref: SNOMEDCT_US:60703000
xref: UMLS:C0270921
xref: UMLS:C1263857
is_a: HP:0000764 ! Peripheral axonal degeneration
is_a: HP:0009830 ! Peripheral neuropathy

[Term]
id: HP:0003481
name: Segmental peripheral demyelination/remyelination
alt_id: HP:0003425
def: "A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves." [https://orcid.org/0000-0002-0736-9199]
synonym: "Segmental demyelination/remyelination" EXACT []
xref: UMLS:C1843077
is_a: HP:0011096 ! Peripheral demyelination

[Term]
id: HP:0003482
name: EMG: axonal abnormality
def: "Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials." [https://orcid.org/0000-0002-0736-9199]
comment: This is a bundled term that is kept for convenience. It is preferable to record the precise clinical observations.
xref: UMLS:C4025609
is_a: HP:0003457 ! EMG abnormality

[Term]
id: HP:0003484
name: Upper limb muscle weakness
def: "Weakness of the muscles of the arms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased arm strength" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Weak arm" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:713512009
xref: UMLS:C1698196
is_a: HP:0003690 ! Limb muscle weakness

[Term]
id: HP:0003487
name: Babinski sign
alt_id: HP:0001352
def: "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [https://orcid.org/0000-0002-0736-9199]
comment: A positive Babinski sign can indicate damage to the corticospinal tract.
synonym: "Extensor plantar reflexes" EXACT []
synonym: "Extensor plantar response" EXACT []
synonym: "Extensor plantar responses" EXACT []
synonym: "Positive Babinski sign" EXACT []
xref: SNOMEDCT_US:246586009
xref: SNOMEDCT_US:366575004
xref: UMLS:C0034935
is_a: HP:0007256 ! Abnormal pyramidal sign
is_a: HP:0031828 ! Abnormal superficial reflex

[Term]
id: HP:0003489
name: Acute episodes of neuropathic symptoms
comment: Neuropathic symptoms include numbness, dysesthesias, and a characteristic form of pain (neuralgia).
xref: UMLS:C1867971
is_a: HP:0009830 ! Peripheral neuropathy

[Term]
id: HP:0003490
name: obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA
is_obsolete: true
replaced_by: HP:0003150

[Term]
id: HP:0003491
name: Elevated urine pyrophosphate
def: "An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025607
is_a: HP:0033354 ! Abnormal urine metabolite level

[Term]
id: HP:0003492
name: High urinary gonadotropin level
def: "An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism." []
comment: 'has part' some ('increased amount' and ('inheres in' some ('Gonadotropin (adult human)' and ('part of' some urine))) and ('has modifier' some abnormal))
xref: UMLS:C4025606
is_a: HP:0012029 ! Abnormal urine hormone level

[Term]
id: HP:0003493
name: Antinuclear antibody positivity
def: "The presence of autoantibodies in the serum that react against nuclei or nuclear components." [https://orcid.org/0000-0002-0736-9199]
comment: Antinuclear antibodies (ANAs) are found in patients with a number of different autoimmune diseases, such as systemic lupus erythematosus, Sjogren's syndrome, rheumatoid arthritis, polymyositis, scleroderma, Hashimoto's thyroiditis, juvenile diabetes mellitus, Addison disease, vitiligo, pernicious anemia, glomerulonephritis, and pulmonary fibrosis. ANAs can display various staining patterns such as homogeneous or diffuse; speckled; nucleolar; and peripheral or rim.
synonym: "Antinuclear antibodies" EXACT []
synonym: "Antinuclear antibody positive" EXACT []
synonym: "Elevated antinuclear antibody" EXACT []
synonym: "Serum antinuclear antibody" EXACT []
xref: SNOMEDCT_US:165850001
xref: UMLS:C0151480
is_a: HP:0030057 ! Autoimmune antibody positivity

[Term]
id: HP:0003494
name: obsolete Loss of heterozygosity, multiple chromosomes
is_obsolete: true
consider: HP:0000005

[Term]
id: HP:0003495
name: GM2-ganglioside accumulation
def: "Cellular accumulation of GM2 gangliosides." [PMID:30524313]
comment: Gangliosides are the main glycolipids of neuronal cell plasma membranes which ensure normal cellular activities. GM2-gangliosidosis can be caused by mutations in three genes: HEXA, HEXB, and GM2A. In patients with HexA deficiency GM2 ganglioside accumulates inside lysosomes, which form characteristic inclusions within the cells, so called membranous cytoplasmic bodies, which are enlarged lysosomes filled with gangliosides. The highest concentration of GM2 ganglioside is found in neuronal cells, therefore, the HexA deficiency primarily affects the nervous system, causing mental and motor developmental delay in patients. Later, progressive destruction of neurons, proliferation of microglia and accumulation of complex lipids in macrophages are observed in the brain tissue.
xref: UMLS:C1848920
is_a: HP:0004345 ! Ganglioside accumulation

[Term]
id: HP:0003496
name: Increased circulating IgM level
alt_id: HP:0002962
def: "An abnormally increased level of immunoglobulin M in blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased IgM levels" EXACT []
synonym: "Increased levels of IgM" EXACT []
xref: UMLS:C1839972
is_a: HP:0010702 ! Increased circulating immunoglobulin concentration
is_a: HP:0410243 ! Abnormal circulating IgM concentration

[Term]
id: HP:0003498
name: Disproportionate short stature
alt_id: HP:0008895
alt_id: HP:0008900
def: "A kind of short stature in which different regions of the body are shortened to differing extents." [https://orcid.org/0000-0002-0736-9199]
synonym: "Short stature, disproportionate" EXACT []
synonym: "Short stature, severe disproportionate" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C0878659
xref: UMLS:C1846797
is_a: HP:0004322 ! Short stature

[Term]
id: HP:0003502
name: Mild short stature
alt_id: HP:0003503
alt_id: HP:0008879
alt_id: HP:0008908
def: "A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex." [https://orcid.org/0000-0002-6410-0882]
synonym: "Relative short stature" RELATED []
synonym: "short stature, mild" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C3150077
xref: UMLS:C4020838
is_a: HP:0003508 ! Proportionate short stature

[Term]
id: HP:0003508
name: Proportionate short stature
alt_id: HP:0003499
def: "A kind of short stature in which different regions of the body are shortened to a comparable extent." [https://orcid.org/0000-0002-0736-9199]
synonym: "Proportionate small stature" EXACT []
synonym: "Short stature, proportionate" EXACT []
xref: UMLS:C0878660
is_a: HP:0004322 ! Short stature

[Term]
id: HP:0003510
name: Severe short stature
alt_id: HP:0001424
alt_id: HP:0001516
alt_id: HP:0003504
alt_id: HP:0008867
alt_id: HP:0008884
alt_id: HP:0008907
alt_id: HP:0008920
alt_id: HP:0008930
def: "A severe degree of short stature, more than -4 SD from the mean corrected for age and sex." [https://orcid.org/0000-0002-0736-9199]
comment: The term severe short stature is to be preferred over dwarfism, which has been used in the past to refer to individuals with an adult height under 4 feet 10 inches (147 cm).
synonym: "Dwarfism" EXACT layperson []
synonym: "Proportionate dwarfism" EXACT layperson []
synonym: "Severe short stature" EXACT layperson []
synonym: "Short stature, extreme" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Short stature, severe" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:237836003
xref: SNOMEDCT_US:237837007
xref: SNOMEDCT_US:422065006
xref: UMLS:C0013336
is_a: HP:0003508 ! Proportionate short stature

[Term]
id: HP:0003513
name: Reduced ratio of renal calcium clearance to creatinine clearance
def: "A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01." [https://orcid.org/0000-0002-0736-9199]
synonym: "Reduced ration of kidney calcium clearance to creatinine clearance" EXACT layperson [https://orcid.org/0000-0001-7941-2961]
synonym: "Reduced ration of renal Ca clearance to creatinine clearance" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961]
synonym: "Reduced ration of renal Ca2+ to creatinine clearance" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961]
xref: UMLS:C4025605
is_a: HP:0011280 ! Abnormality of urine calcium concentration

[Term]
id: HP:0003514
name: Deficiency or absence of cytochrome b(-245)
synonym: "Deficiency or absence of cytochrome b" EXACT []
xref: UMLS:C1844390
is_a: HP:0003287 ! Abnormality of mitochondrial metabolism

[Term]
id: HP:0003517
name: Birth length greater than 97th percentile
synonym: "Fetal overgrowth" EXACT []
synonym: "Foetal overgrowth" EXACT uk_spelling []
xref: UMLS:C1839271
is_a: HP:0000098 ! Tall stature

[Term]
id: HP:0003521
name: Disproportionate short-trunk short stature
alt_id: HP:0001524
alt_id: HP:0003500
alt_id: HP:0008923
def: "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Disproportionate short-trunked dwarfism" EXACT layperson []
synonym: "Disproportionate short-trunked short stature" EXACT layperson []
synonym: "Short-trunked dwarfism" EXACT layperson []
xref: UMLS:C1846435
is_a: HP:0003498 ! Disproportionate short stature
is_a: HP:0009121 ! Abnormal axial skeleton morphology

[Term]
id: HP:0003524
name: Decreased methionine synthase activity
def: "A reduction in methionine synthase activity." [https://orcid.org/0000-0002-0736-9199]
comment: Cobalamin-dependent methionine synthase catalyzes the transfer of a methyl group from N5-methyltetrahydrofolate to homocysteine, producing tetrahydrofolate and methionine, i.e., (6S)-5-methyl-5,6,7,8-tetrahydrofolate + L-homocysteine = (6S)-5,6,7,8-tetrahydrofolate + L-methionine.
synonym: "Decreased activity of methionine synthase" EXACT []
synonym: "Methionine synthase activity decreased" EXACT []
synonym: "Methionine synthase deficiency" EXACT []
synonym: "Reduced methionine synthase activity" EXACT []
xref: UMLS:C1848580
is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity

[Term]
id: HP:0003526
name: Orotic acid crystalluria
def: "Formation of crystals owing to an increased concentration of orotic acid in the urine." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C3278626
is_a: HP:0020074 ! Crystalluria

[Term]
id: HP:0003527
name: Hyperprostaglandinuria
def: "An increased concentration of prostaglandin in the urine." [https://orcid.org/0000-0002-0736-9199]
synonym: "High urine prostaglandin levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1866498
is_a: HP:6000531 ! Abnormal urinary organic compound level

[Term]
id: HP:0003528
name: Elevated circulating calcitonin concentration
def: "Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation above the upper limit of normal." []
comment: Calcitonin is a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid. It acts to reduce blood calcium (Ca2+), opposing the effects of parathyroid hormone.
synonym: "Elevated calcitonin" EXACT layperson []
xref: UMLS:C1868394
is_a: HP:0034902 ! Abnormal circulating calcitonin concentration

[Term]
id: HP:0003529
name: Parathormone-independent increased renal tubular calcium reabsorption
def: "An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels." [https://orcid.org/0000-0002-0736-9199, PMID:23802516]
comment: This feature is seen with familial hypocalciuric hypercalcemia. This disease has three known genetic etiologies, in type 1 there is a loss of function mutation in the calcium-sensing receptor (encoded by CASR), in type 2 there is a gain of function mutation in GNA11, which is involved in calcium-sensing receptor signaling, and in type 3 there is a mutation in AP2S1, which encodes the adaptor-related protein complex 2, sigma 1 subunit, which alters calcium-sensing receptor endocytosis.
synonym: "Parathormone-independent increased renal tubular Ca reabsorption" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961]
synonym: "Parathormone-independent increased renal tubular Ca2+ reabsorption" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961]
xref: UMLS:C4025604
is_a: HP:0003110 ! Abnormality of urine homeostasis

[Term]
id: HP:0003530
name: Elevated circulating glutaric acid concentration
def: "An increased concentration of glutaric acid in the blood." [HPO_CONTRIBUTOR:gcarletti]
synonym: "Glutarate acidemia" EXACT [https://orcid.org/0000-0001-9969-8610]
synonym: "Glutaric acidemia" EXACT []
xref: UMLS:C4025603
is_a: HP:0010995 ! Abnormal circulating dicarboxylic acid concentration
is_a: HP:0032368 ! Acidemia

[Term]
id: HP:0003532
name: Ornithinuria
def: "Level of ornithine in the urine above the upper limit of normal." [https://orcid.org/0000-0002-0736-9199]
synonym: "Ornithine high in urine" EXACT []
xref: UMLS:C4025602
is_a: HP:0033098 ! Increased urinary non-proteinogenic amino acid level

[Term]
id: HP:0003533
name: Reduced acetaldehyde dehydrogenase level
def: "Decreased level of acetaldehyde dehydrogenase (ALDH). ALDH and alcohol dehydrogenase (ADH) are the primary enzymes involved in alcohol metabolism." [PMID:17718394]
comment: In the liver, alcohol dehydrogenase converts ethanol into acetaldehyde, which is then converted into acetic acid by acetaldehyde dehydrogenase.
synonym: "Delayed oxidation of acetaldehyde" EXACT []
xref: UMLS:C4025601
is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity

[Term]
id: HP:0003534
name: Reduced xanthine dehydrogenase level
def: "An abnormal reduction in xanthine dehydrogenase level." [https://orcid.org/0000-0002-0736-9199]
comment: This enzyme is on the purine degradation pathway and catalzyes the reaction xanthine + NAD+ + H2O = urate + NADH + H+.
synonym: "Xanthine dehydrogenase deficiency" RELATED []
xref: SNOMEDCT_US:124147007
xref: SNOMEDCT_US:72682008
xref: UMLS:C0268118
xref: UMLS:C4025600
is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity

[Term]
id: HP:0003535
name: 3-Methylglutaconic aciduria
def: "An increased amount of 3-methylglutaconic acid in the urine." []
comment: 3-methylglutaconic aciduria describes five different disorders that impair mitochondrial function and resulting in buildup of 3-methylglutaconic acid and 3-methylglutaric acid and consequent increased excretion in the urine.
synonym: "3-Methylglutaconicaciduria" EXACT []
xref: SNOMEDCT_US:237950009
xref: UMLS:C3696376
is_a: HP:0031980 ! Abnormal urine carboxylic acid level

[Term]
id: HP:0003536
name: Decreased fumarate hydratase activity
def: "An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity." [https://orcid.org/0000-0002-0736-9199]
comment: Fumarate hydratase belongs to the tricarboxylic acid (Krebs) cycle. It catalyzes the conversion of fumarate to malate.
xref: UMLS:C1853903
is_a: HP:0000816 ! Abnormality of Krebs cycle metabolism

[Term]
id: HP:0003537
name: Hypouricemia
def: "An abnormally low level of uric acid in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Low blood uric acid levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:4519003
xref: UMLS:C0221333
is_a: HP:0002157 ! Azotemia
is_a: HP:0010932 ! Abnormal circulating nucleobase concentration

[Term]
id: HP:0003538
name: Increased iduronate sulfatase level
def: "An increased level of iduronate-2-sulfatase activity in the blood." [https://orcid.org/0000-0002-0736-9199]
comment: Iduronate-2-sulfatase is required for the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this X-chromosome gene are associated with Mucopolysaccharidosis Type II. Increased serum iduronate-2-sulfatase is observed in mucolipidosis II alpha/beta.
synonym: "Increased serum iduronate sulfatase" RELATED []
synonym: "Increased serum iduronate sulfatase level" EXACT []
xref: UMLS:C2673363
xref: UMLS:C4025599
is_a: HP:0034202 ! Abnormal iduronate sulfatase concentration

[Term]
id: HP:0003540
name: Impaired platelet aggregation
alt_id: HP:0008177
def: "An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent." [https://orcid.org/0000-0002-7744-1790]
synonym: "Defective platelet aggregation" EXACT []
synonym: "Deficient platelet aggregation" EXACT []
synonym: "Platelet aggregation defect" EXACT []
xref: UMLS:C1855853
is_a: HP:0030402 ! Abnormal platelet aggregation

[Term]
id: HP:0003541
name: Urinary glycosaminoglycan excretion
def: "Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025598
is_a: HP:0033354 ! Abnormal urine metabolite level

[Term]
id: HP:0003542
name: Increased circulating pyruvate concentration
def: "The concentration of pyruvate in the blood circulation is above the upper limit of normal." [HPO_CONTRIBUTOR:gcarletti]
comment: An abnormal increase in the concentration of pyruvate in the blood. Pyruvate is involved in energy metabolism, forming part of glycolysis and the citric acid cycle.
synonym: "Increased serum pyruvate" EXACT []
synonym: "Increased serum pyruvic acid" EXACT []
xref: UMLS:C1849488
is_a: HP:0010996 ! Abnormal circulating monocarboxylic acid concentration

[Term]
id: HP:0003546
name: Exercise intolerance
def: "A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender." [PMID:10617757]
synonym: "Decreased ability to exercise" EXACT layperson [https://orcid.org/0000-0002-6548-5200, PMID:10617757]
synonym: "Inability to exercise" EXACT layperson [https://orcid.org/0000-0002-6548-5200, PMID:10617757]
synonym: "Low exercise endurance" EXACT []
synonym: "Poor exercise tolerance" EXACT []
xref: SNOMEDCT_US:267044007
xref: UMLS:C0424551
is_a: HP:0025142 ! Constitutional symptom

[Term]
id: HP:0003547
name: Shoulder girdle muscle weakness
alt_id: HP:0003695
alt_id: HP:0009009
def: "The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders." [https://orcid.org/0000-0002-0736-9199]
synonym: "Muscle weakness, shoulder-girdle" EXACT []
synonym: "Shoulder girdle weakness" EXACT []
synonym: "Shoulder weakness" EXACT []
synonym: "Weak shoulder muscles" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:249940002
xref: UMLS:C0427063
xref: UMLS:C0748691
is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature
is_a: HP:0003325 ! Limb-girdle muscle weakness

[Term]
id: HP:0003548
name: Subsarcolemmal accumulations of abnormally shaped mitochondria
def: "An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology." [https://orcid.org/0000-0002-0736-9199]
comment: This finding can be demonstrated by electron microscopy. This finding is typical of mitochondrial myopathies.
xref: UMLS:C4025597
is_a: HP:0003800 ! Muscle abnormality related to mitochondrial dysfunction

[Term]
id: HP:0003549
name: Abnormality of connective tissue
def: "Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat)." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025596
is_a: HP:0033127 ! Abnormality of the musculoskeletal system

[Term]
id: HP:0003550
name: Predominantly lower limb lymphedema
def: "Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1835228
is_a: HP:0001004 ! Lymphedema

[Term]
id: HP:0003551
name: Difficulty climbing stairs
alt_id: HP:0007019
def: "Reduced ability to climb stairs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Difficulty walking up stairs" EXACT layperson []
xref: SNOMEDCT_US:282195009
xref: UMLS:C0239067
is_a: HP:0004302 ! Functional motor deficit

[Term]
id: HP:0003552
name: Muscle stiffness
alt_id: HP:0009014
def: "A condition in which muscles cannot be moved quickly without accompanying pain or spasm." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:16046003
xref: UMLS:C0221170
is_a: HP:0011804 ! Abnormal muscle physiology

[Term]
id: HP:0003553
name: obsolete Cellulitis due to immunodeficiency
is_obsolete: true
replaced_by: HP:0100658

[Term]
id: HP:0003554
name: Type 2 muscle fiber atrophy
def: "Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy." [https://orcid.org/0000-0002-0736-9199]
comment: This finding can be demonstrated by muscle biopsy.
synonym: "Type 2 fiber atrophy" EXACT []
synonym: "Type 2 fibre atrophy" EXACT uk_spelling []
synonym: "Type 2 muscle fibre atrophy" EXACT uk_spelling []
xref: UMLS:C1864580
is_a: HP:0100295 ! Muscle fiber atrophy

[Term]
id: HP:0003555
name: Muscle fiber splitting
def: "Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches." [PMID:6123177]
synonym: "Fiber splitting" EXACT []
synonym: "Fibre splitting" EXACT []
synonym: "Muscle fiber splitting" EXACT []
xref: UMLS:C1836057
is_a: HP:0004303 ! Abnormal muscle fiber morphology

[Term]
id: HP:0003557
name: Increased variability in muscle fiber diameter
alt_id: HP:0003556
def: "An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy." [https://orcid.org/0000-0002-0736-9199]
comment: This finding can be demonstrated by muscle biopsy.
synonym: "Increased fiber size variation" EXACT []
synonym: "Increased fibre size variation" EXACT uk_spelling []
synonym: "Increased variability in muscle fiber size" EXACT []
synonym: "Increased variability in muscle fibre diameter" EXACT uk_spelling []
synonym: "Increased variability in muscle fibre size" EXACT uk_spelling []
synonym: "Increased variation in fiber size" EXACT []
synonym: "Increased variation in fibre size" EXACT uk_spelling []
synonym: "Increased variation in muscle fiber size" EXACT []
synonym: "Increased variation in muscle fibre size" EXACT uk_spelling []
synonym: "Variation in muscle fiber size" EXACT []
synonym: "Variation in muscle fibre size" EXACT uk_spelling []
xref: UMLS:C1843700
is_a: HP:0012084 ! Abnormality of skeletal muscle fiber size

[Term]
id: HP:0003558
name: Viral infection-induced rhabdomyolysis
def: "Rhabdomyolysis induced by a viral infection." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025595
is_a: HP:0003201 ! Rhabdomyolysis

[Term]
id: HP:0003559
name: Muscle hyperirritability
xref: UMLS:C1853701
is_a: HP:0011804 ! Abnormal muscle physiology

[Term]
id: HP:0003560
name: Muscular dystrophy
alt_id: HP:0003544
alt_id: HP:0003741
alt_id: HP:0003793
alt_id: HP:0003806
alt_id: HP:0007081
def: "The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities." [https://orcid.org/0000-0001-9046-3540, https://orcid.org/0000-0002-0736-9199]
comment: Muscular dystrophy can be demonstrated by muscle biopsy.
synonym: "Congenital muscular dystrophy" NARROW []
synonym: "Muscle biopsy shows dystrophic changes" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:193225000
xref: SNOMEDCT_US:73297009
xref: UMLS:C0026850
xref: UMLS:C1864711
is_a: HP:0011805 ! Abnormal skeletal muscle morphology

[Term]
id: HP:0003561
name: Birth length less than 3rd percentile
synonym: "Birth length < 3rd percentile" EXACT []
synonym: "Birth length <3rd percentile" EXACT []
xref: UMLS:C1855650
is_a: HP:0004322 ! Short stature

[Term]
id: HP:0003562
name: Abnormal metaphyseal vascular invasion
xref: UMLS:C3277127
is_a: HP:0000944 ! Abnormal metaphysis morphology

[Term]
id: HP:0003563
name: Decreased LDL cholesterol concentration
def: "An decreased concentration of low-density lipoprotein cholesterol in the blood." [HPO_CONTRIBUTOR:gcarletti]
comment: Beta-lipoprotein cholesterol is a synonym for low-density lipoprotein (LDL) cholesterol.
synonym: "Decreased circulating low-density lipoprotein levels" EXACT []
synonym: "Decreased LDL" RELATED abbreviation []
synonym: "Decreased LDLc concentration" EXACT abbreviation []
synonym: "Hypobetalipoproteinemia" EXACT []
xref: SNOMEDCT_US:190786004
xref: UMLS:C0020597
xref: UMLS:C0853085
is_a: HP:0010981 ! Hypolipoproteinemia
is_a: HP:0031886 ! Abnormal LDL cholesterol concentration

[Term]
id: HP:0003564
name: Folate-dependent fragile site at Xq28
def: "The presence of a folate sensitive fragile site at chromosome Xq28." [https://orcid.org/0000-0002-0736-9199]
comment: Fragile sites can be defined as heritable specific loci on human chromosomes that exhibit non-random gaps, constrictions or breaks when chromosomes are exposed to specific cell culture conditions. Over 120 different fragile sites have been identified in the human genome. Some of these sites are sensitive to folate, that is, they can be induced by a culture medium deficient in folic acid and thymidine, and hence a medium with lowered levels of dTTP or dCTP, two immediate components of DNA, or by a medium enriched either in methotrexate, an inhibitor of folate metabolism, or in fluorodeoxyuridine, an inhibitor of thymidylate synthesis. The folate-dependent fragile phenotype occurs if more than a critical number of CCG/CGG repeats are present (e.g., > 230 repeats for FRAXA).
xref: UMLS:C1839785
is_a: HP:0040012 ! Chromosome breakage

[Term]
id: HP:0003565
name: Elevated erythrocyte sedimentation rate
def: "An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen." [PMID:10524488]
synonym: "Elevated ESR" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961]
synonym: "Elevated sedimentation rate" EXACT []
synonym: "High erythrocyte sedimentation rate" EXACT []
synonym: "High ESR" EXACT layperson []
synonym: "Increased erythrocyte sedimentation rate" EXACT []
synonym: "Raised erythrocyte sedimentation rate" EXACT []
xref: SNOMEDCT_US:165468009
xref: UMLS:C0151632
is_a: HP:0025021 ! Abnormal erythrocyte sedimentation rate
is_a: HP:0033331 ! Acute phase response

[Term]
id: HP:0003566
name: Increased serum prostaglandin E2
alt_id: HP:0008298
def: "An increased concentration of prostaglandin E2 in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Elevated prostaglandin E2" EXACT []
xref: UMLS:C3150358
is_a: HP:0011023 ! Abnormal circulating prostaglandin circulation

[Term]
id: HP:0003568
name: Decreased glucosephosphate isomerase level
alt_id: HP:0003290
def: "A decreased level of glucose-6-phosphate isomerase." [HPO_CONTRIBUTOR:gcarletti]
comment: Deficiency of glucose-6-phosphate isomerase (EC 5.3.1.9).
synonym: "Decreased glucose phosphate isomerase activity" EXACT []
synonym: "Glucosephosphate isomerase deficiency" EXACT []
synonym: "Phosphohexose isomerase deficiency" EXACT []
xref: SNOMEDCT_US:124669001
xref: UMLS:C1291611
is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity

[Term]
id: HP:0003570
name: Molybdenum cofactor deficiency
def: "Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:29692004
xref: UMLS:C0268119
is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity

[Term]
id: HP:0003571
name: Propionic acidemia
def: "Increased concentration of proprionic acid in the blood circulation." [PMID:22593918]
xref: SNOMEDCT_US:124718009
xref: SNOMEDCT_US:69080001
xref: UMLS:C0268579
is_a: HP:0032368 ! Acidemia

[Term]
id: HP:0003572
name: Low plasma citrulline
def: "A decreased concentration of citrulline in the blood." [HPO_CONTRIBUTOR:gcarletti]
xref: UMLS:C1839532
is_a: HP:0011965 ! Abnormal circulating citrulline concentration

[Term]
id: HP:0003573
name: Increased total bilirubin
alt_id: HP:0008168
def: "Increased concentration of total (conjugated and unconjugated) bilirubin in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "High bili total" EXACT layperson []
synonym: "Increased bilirubin" EXACT []
xref: SNOMEDCT_US:176271000119108
xref: UMLS:C0741494
is_a: HP:0002904 ! Hyperbilirubinemia

[Term]
id: HP:0003574
name: Positive regitine blocking test
def: "A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension." [https://orcid.org/0000-0002-0736-9199]
comment: Regitine produces an alpha-adrenergic block of relatively short duration. In the regitine blocking test, regitine is injected rapidly and blood pressure is recorded immediately after injection, at 30-second intervals for the first 3 minutes, and at 60-second intervals for the next 7 minutes. A positive response to the reginitine blocking test is present when the blood pressure is reduced more than 35 mmHg systolic and 25 mmHg diastolic. A typical positive response is a reduction in pressure of 60 mmHg systolic and 25 mmHg diastolic. A positive response is suggestive of pheochromocytoma and should generally be confirmed by other diagnostic procedures such as measurement of urinary catecholamines or their metabolites.
xref: UMLS:C4025594
is_a: HP:0002640 ! Hypertension associated with pheochromocytoma

[Term]
id: HP:0003575
name: Increased intracellular sodium
def: "An abnormally increased sodium concentration in the cytosol." [HPO_CONTRIBUTOR:gcarletti]
synonym: "High intracellular Na" EXACT []
synonym: "Increased intracellular Na+ levels" EXACT []
xref: UMLS:C4025593
is_a: HP:0011017 ! Abnormal cellular physiology

[Term]
id: HP:0003577
name: Congenital onset
alt_id: HP:0003595
alt_id: HP:0003601
alt_id: HP:0003624
alt_id: HP:0003660
alt_id: HP:0003666
def: "A phenotypic abnormality that is present at birth." [https://orcid.org/0000-0002-0736-9199]
comment: Congenital onset literally means present at birth. Congenital abnormalities are thus generally acquired during fetal development. Congenital abnormalities are often but not always hereditary in nature. Whether a disease manifestation is diagnosed to be intrauterine or congenital may depend on the time at which diagnostic procedures are performed. Thus, most congenital abnormalities are also intrauterine. This term should be used for phenotypic abnormalities or diseases initially observed at the time of birth. For abnormalities observed prior to (e.g., by fetal ultrasound), use the term Antenatal onset (HP:0030674).
synonym: "Onset at birth" EXACT []
synonym: "Symptoms present at birth" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1836142
xref: UMLS:C2752013
is_a: HP:0003674 ! Onset

[Term]
id: HP:0003581
name: Adult onset
alt_id: HP:0003585
alt_id: HP:0003598
alt_id: HP:0003627
alt_id: HP:0003662
alt_id: HP:0003669
def: "Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later." [https://orcid.org/0000-0002-0736-9199]
synonym: "Onset in adulthood" EXACT []
synonym: "Onset in early adulthood" EXACT []
synonym: "Symptoms begin in adulthood" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1853562
is_a: HP:0003674 ! Onset

[Term]
id: HP:0003584
name: Late onset
def: "A type of adult onset with onset of symptoms after the age of 60 years." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025592
is_a: HP:0003581 ! Adult onset

[Term]
id: HP:0003587
name: Insidious onset
def: "Gradual, very slow onset of disease manifestations." [https://orcid.org/0000-0002-0736-9199]
synonym: "Gradual onset" EXACT layperson []
xref: SNOMEDCT_US:367326009
xref: SNOMEDCT_US:61751001
xref: UMLS:C0332164
xref: UMLS:C1298634
is_a: HP:0011008 ! Temporal pattern

[Term]
id: HP:0003593
name: Infantile onset
alt_id: HP:0003576
alt_id: HP:0003579
alt_id: HP:0003591
alt_id: HP:0003594
alt_id: HP:0003599
alt_id: HP:0003600
alt_id: HP:0003629
alt_id: HP:0003631
alt_id: HP:0003667
alt_id: HP:0003672
alt_id: HP:0010573
def: "Onset of signs or symptoms of disease between 28 days to one year of life." [https://orcid.org/0000-0002-0736-9199]
comment: Onset of signs or symptoms of disease within the first 12 months of life.
synonym: "Infantile onset" EXACT layperson []
synonym: "Onset in first year of life" EXACT layperson []
synonym: "Onset in infancy" EXACT layperson []
xref: UMLS:C1848924
is_a: HP:0410280 ! Pediatric onset

[Term]
id: HP:0003596
name: Middle age onset
def: "A type of adult onset with onset of symptoms at the age of 40 to 60 years." [https://orcid.org/0000-0002-0736-9199]
comment: Middle age is of course not amenable to precise definitions. We suggest using this term for onset of disease symptoms between the age of 40 and 60 years.
xref: UMLS:C1969363
is_a: HP:0003581 ! Adult onset

[Term]
id: HP:0003606
name: Absent urinary urothione
def: "Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine." [https://orcid.org/0000-0002-0736-9199, PMID:6960353]
comment: Urothione, a sulfur-containing pterin, is the normal metabolic degradation product of the molybdenum cofactor.
xref: UMLS:C4025591
is_a: HP:0033354 ! Abnormal urine metabolite level

[Term]
id: HP:0003607
name: 4-hydroxyphenylacetic aciduria
alt_id: HP:0033304
def: "Increased concentration of 4-hydroxyphenylacetic acid in the urine." [https://orcid.org/0000-0002-0736-9199]
comment: 4-Hydroxyphenylpyruvate dioxygenase participates in the tyrosine catabolic pathway by catalyzing the conversion of 4-hydroxyphenylpyruvate to homogentisate. A deficiency in this enzyme can result in 4-Hydroxyphenylacetic aciduria.
synonym: "Elevated urine 4-hydroxyphenylacetic acid level" EXACT []
xref: UMLS:C1848680
is_a: HP:0040156 ! Elevated urinary carboxylic acid

[Term]
id: HP:0003609
name: Foam cells with lamellar inclusion bodies
def: "The presence of foam cells that contain lamellar inclusion bodies." [https://orcid.org/0000-0002-0736-9199]
comment: Foam cells with lamellar inclusion bodies are thought to be a hallmark of cellular phospholipidosis, i.e., of the excess accumulation of phospholipids. This abnormality can be assayed by electron microscopy.
xref: UMLS:C4025590
is_a: HP:0003651 ! Foam cells

[Term]
id: HP:0003610
name: Fibroblast metachromasia
def: "Increased cytoplasmic staining of fibroblasts with toluidine blue." [https://orcid.org/0000-0002-0736-9199, PMID:4195824]
comment: Cultured fibroblasts from the genetic mucopolysaccharidoses store higher than normal amounts of glycosaminoglyeans. Histochemical stains such as toluidine blue and Alcian blue can be used to detect such intracellular glycosaminoglycans which, being negatively charged, are bound and precipitated by the cationic dyes. Cultured fibroblasts from homozygotes -and heterozygotes for the genetic mucopolysaccharidoses accumulate excessive quantities of glycosaminoglycans. The cytoplasmic staining with toluidine blue is referred to as metachromasia (pink) and orthochromasia (blue) and that with Alcian blue as alcianophilia.
xref: UMLS:C1835008
is_a: HP:0003653 ! Cellular metachromasia

[Term]
id: HP:0003612
name: Positive ferric chloride test
def: "If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood." [https://orcid.org/0000-0002-0736-9199]
comment: The ferric chloride test indicates presence of high levels of phenylpyruvate in urine, because ferric ion forms a blue-green colored complex with phenylpyruvate. Some other compounds can also lead to a positive ferric chloride test. The ferric chloride test is no longer used in modern clinical practice, but this term is kept for historical reasons. The urine phenylpyruvate concentration is elevated in phenylketonuria.
synonym: "Positive FeCl3 test" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961]
xref: UMLS:C4025589
is_a: HP:0010893 ! Abnormal circulating phenylalanine concentration

[Term]
id: HP:0003613
name: Antiphospholipid antibody positivity
def: "The presence of circulating autoantibodies to phospholipids." [https://orcid.org/0000-0002-0736-9199]
comment: This group of autoantibodies comprises anticardiolipin, antiphosphatidylinositol, atiphosphatidylglycerol, and antiphosphatidylserine antibodies.
synonym: "Antiphospholipid antibodies" EXACT []
synonym: "Antiphospholipid antibody" EXACT []
synonym: "Phospholipid antibody positivity" EXACT []
xref: UMLS:C4019436
is_a: HP:0030057 ! Autoimmune antibody positivity

[Term]
id: HP:0003614
name: Trimethylaminuria
def: "Increased concentration of trimethylamine in the urine." [https://orcid.org/0000-0002-0736-9199]
comment: Increased concentration of trimethylamine, an organic amino compound with an odor characterized as that of rotting fish, in the urine. Trimethylaminuria is generally caused by impaired oxidation of trimethylamine into the odorless compound trimethylamine N-oxide.
synonym: "High urine trimethylamine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:237959005
xref: UMLS:C0342739
is_a: HP:0033354 ! Abnormal urine metabolite level

[Term]
id: HP:0003616
name: Premature separation of centromeric heterochromatin
xref: UMLS:C1849316
is_a: HP:0200024 ! Premature chromatid separation

[Term]
id: HP:0003621
name: Juvenile onset
alt_id: HP:0003578
alt_id: HP:0003580
alt_id: HP:0003582
alt_id: HP:0003583
alt_id: HP:0003589
alt_id: HP:0003592
alt_id: HP:0003604
alt_id: HP:0003619
alt_id: HP:0003620
alt_id: HP:0003625
alt_id: HP:0003659
alt_id: HP:0003661
alt_id: HP:0003670
def: "Onset of signs or symptoms of disease between the age of 5 and 15 years." [https://orcid.org/0000-0002-0736-9199]
synonym: "Signs and symptoms begin before 15 years of age" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C4025588
is_a: HP:0410280 ! Pediatric onset

[Term]
id: HP:0003623
name: Neonatal onset
alt_id: HP:0003622
def: "Onset of signs or symptoms of disease within the first 28 days of life." [https://orcid.org/0000-0002-0736-9199]
synonym: "Neonatal onset" EXACT layperson []
synonym: "Onset in first weeks of life" EXACT []
synonym: "Onset in neonatal period" EXACT []
xref: UMLS:C1855106
is_a: HP:0003674 ! Onset

[Term]
id: HP:0003634
name: Amyoplasia
alt_id: HP:0008990
def: "Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue." [https://orcid.org/0000-0001-9046-3540, https://orcid.org/0000-0002-0736-9199]
synonym: "Absent muscles since birth" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Congenital absence of muscles" EXACT []
xref: SNOMEDCT_US:205532005
xref: UMLS:C0432185
is_a: HP:0100854 ! Aplasia of the musculature

[Term]
id: HP:0003635
name: Loss of subcutaneous adipose tissue in limbs
alt_id: HP:0003757
def: "Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Loss of fat tissue below the skin in limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Loss of subcutaneous adipose tissue from extremities" EXACT []
xref: UMLS:C1837764
is_a: HP:0008887 ! Adipose tissue loss

[Term]
id: HP:0003637
name: Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity
def: "Activity or concentration of 4-hydroxyphenylpyruvate dioxygenase in the blood circulation below the lower limit of normal." [https://orcid.org/0000-0002-0736-9199]
comment: Note: 4-hydroxyphenylpyruvate dioxygenase corresponds to EC 1.13.11.27. 4-Hydroxyphenylpyruvate dioxygenase participates in the tyrosine catabolic pathway by catalyzing the conversion of 4-hydroxyphenylpyruvate to homogentisate. A deficiency in this enzyme can result in 4-Hydroxyphenylacetic aciduria.
synonym: "Reduced 4-Hydroxyphenylpyruvate dioxygenase level" EXACT []
synonym: "Reducted HPPD activity" EXACT abbreviation []
xref: UMLS:C4025587
is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity

[Term]
id: HP:0003639
name: Elevated urinary epinephrine level
def: "The concentration of epinephrine in the urine, normalized for urine concentration, is above the upper limit of normal." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased urinary epinephrine" EXACT []
xref: UMLS:C1868393
is_a: HP:0011976 ! Elevated urinary catecholamine level

[Term]
id: HP:0003640
name: CNS foam cells
def: "The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the central nervous system." []
xref: UMLS:C1843373
is_a: HP:0003651 ! Foam cells

[Term]
id: HP:0003641
name: Hemoglobinuria
def: "The presence of free hemoglobin in the urine." [https://orcid.org/0000-0002-0736-9199]
comment: If, following hemolysis, haptoglobins (hemoglobin-binding proteins) are saturated, then free hemoglobin appears in the urine.
synonym: "Haemoglobin in urine" EXACT uk_spelling []
synonym: "Hemoglobin in urine" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:68600005
xref: UMLS:C0019048
is_a: HP:0033354 ! Abnormal urine metabolite level

[Term]
id: HP:0003642
name: Type I transferrin isoform profile
def: "Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II." [https://orcid.org/0000-0002-0736-9199, PMID:15105360, PMID:22516080]
comment: There are several methods in use with which this feature can be diagnosed. Using HPLC analysis an increased asialo- and disialotransferrin and reduced tetrasialotransferrin are observed. Using immunoaffinity column analysis, the mono-oligosaccharide/di-oligosaccharide transferrin ratio, and/or the a-oligosaccharide/di-oligosaccharide transferrin ratio are abnormal.
synonym: "Abnormal isoelectric focusing of serum transferrin, type I pattern" EXACT []
synonym: "Isoelectric focusing of serum transferrin consistent with CDG type I" EXACT []
synonym: "Type 1 transferrin isoform profile" EXACT []
xref: UMLS:C1837899
is_a: HP:0003160 ! Abnormal isoelectric focusing of serum transferrin

[Term]
id: HP:0003643
name: Sulfite oxidase deficiency
def: "Abnormally reduced sulfite oxidase level." [https://orcid.org/0000-0002-0736-9199]
comment: Sulfite oxidase is responsible for the oxidation of sulfite to sulfate and is the terminal enzyme in the oxidative degradation pathway of sulfur-containing amino acids.
xref: SNOMEDCT_US:367368009
xref: UMLS:C0268624
is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity

[Term]
id: HP:0003645
name: Prolonged partial thromboplastin time
def: "Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal partial thromboplastin time" EXACT []
synonym: "Delayed thromboplastin generation" EXACT []
synonym: "Partial thromboplastin time prolonged" EXACT []
synonym: "Prolonged activated partial thromboplastin time" EXACT []
synonym: "Prolonged PTT" EXACT abbreviation []
xref: SNOMEDCT_US:409675001
xref: UMLS:C0240671
is_a: HP:0001928 ! Abnormality of coagulation

[Term]
id: HP:0003646
name: Bicarbonaturia
def: "Abnormally increased concentration of hydrogencarbonate in the urine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased urine bicarbonate concentration" EXACT abbreviation []
synonym: "Increased urine HCO3 concentration" EXACT []
xref: UMLS:C1839865
is_a: HP:0011279 ! Abnormality of urine bicarbonate level

[Term]
id: HP:0003647
name: Electron transfer flavoprotein-ubiquinone oxidoreductase defect
def: "A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase." [PMID:2989828]
xref: UMLS:C4025586
is_a: HP:0003287 ! Abnormality of mitochondrial metabolism

[Term]
id: HP:0003648
name: Lacticaciduria
def: "An increased concentration of lactic acid in the urine." [https://orcid.org/0000-0002-0736-9199]
synonym: "High urine lactic acid levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Increased urine lactate" EXACT []
xref: UMLS:C4025585
is_a: HP:0012072 ! Aciduria

[Term]
id: HP:0003649
name: Abnormal glycosidase enzyme activity
def: "Abnormality of glycosidase enzyme activity. Glycoside hydrolases (GHs), including glycosidases and transglycosidases. These enzymes constitute 113 protein families that are responsible for the hydrolysis and/or transglycosylation of glycosidic bonds." [https://orcid.org/0000-0002-0736-9199]
comment: Glycosides are molecules with a sugar moiety bound to some other moiety.
synonym: "Abnormality of glycoside metabolism" EXACT []
xref: UMLS:C4025584
is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-08T08:32:00Z

[Term]
id: HP:0003651
name: Foam cells
alt_id: HP:0003650
def: "The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance." [https://orcid.org/0000-0002-0736-9199]
comment: Foam cells may contain polymorphic cytoplasmic inclusions consisting of lamellar osmiophilic membranes on electron microscopy.
synonym: "Foamy histiocytes" EXACT []
synonym: "Foamy macrophages" EXACT []
synonym: "Lipid-laden histiocytes" EXACT []
synonym: "Presence of foam cells" EXACT []
xref: SNOMEDCT_US:16980002
xref: UMLS:C0016390
is_a: HP:0002621 ! Atherosclerosis

[Term]
id: HP:0003652
name: Recurrent myoglobinuria
alt_id: HP:0008313
def: "Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue." [https://orcid.org/0000-0002-0736-9199]
synonym: "Myoglobinuria, episodic" EXACT []
synonym: "Myoglobinuria, recurrent" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1838877
is_a: HP:0002913 ! Myoglobinuria

[Term]
id: HP:0003653
name: Cellular metachromasia
def: "Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans." [https://orcid.org/0000-0002-0736-9199, PMID:4195824]
comment: This investigation is no longer in common use.
xref: UMLS:C4025583
is_a: HP:0011020 ! Abnormality of mucopolysaccharide metabolism

[Term]
id: HP:0003654
name: Reduced dihydropyrimidine dehydrogenase level
def: "An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) level." [HPO_CONTRIBUTOR:gcarletti]
comment: Pyrimidine 5-prime nucleotidase catalyzes the dephosphorylation of the pyrimidine 5-prime monophosphates to the corresponding nucleosides.
synonym: "Dihydropyrimidine dehydrogenase deficiency" RELATED []
xref: SNOMEDCT_US:77365006
xref: UMLS:C1959620
xref: UMLS:C4025582
is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity

[Term]
id: HP:0003655
name: Reduced level of N-acetylglucosaminyltransferase II
def: "An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity." [HPO_CONTRIBUTOR:gcarletti]
synonym: "Deficient N-acetylglucosaminyltransferase II" EXACT []
xref: UMLS:C4021725
is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity

[Term]
id: HP:0003656
name: Decreased beta-glucocerebrosidase level
def: "Reduced level of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose." []
comment: An enzyme that hydrolyzes beta-glucosides in cerebrosides.
synonym: "Decreased lysosomal acid glucosylceramidase activity" EXACT []
xref: UMLS:C1842710
is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity

[Term]
id: HP:0003657
name: Vascular granular osmiophilic material deposition
alt_id: HP:0034379
def: "Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide. Deposition of granular osmiophilic material (GOM) is the vascular pathological hallmark of CADASIL, which is the most prevalent hereditary small vessel disease and is caused by missense mutations in the NOTCH3 gene. GOM have been shown to contain NOTCH3 ectodomain (NOTCH3ECD) and extracellular matrix proteins, and can be visualized ultrastructurally in the tunica media of small arteries and capillaries. These electron dense GOM deposits are located in the basement membrane of mural cells, i.e. vascular smooth muscle cells and pericytes. In both manifest and pre-manifest CADASIL patients, GOM deposits are present not only in brain vessels, but also in vessels of other organs, such as the skin." [PMID:17183453, PMID:31667734]
comment: In CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy), GOM deposits can be observed located in the neighborhood of the smooth muscle cells, often within an infolding of the cell membrane.
synonym: "Granular osmiophilic deposits (GROD) in cells" EXACT []
xref: UMLS:C1859833
is_a: HP:0025015 ! Abnormal vascular morphology

[Term]
id: HP:0003658
name: Hypomethioninemia
def: "A decreased concentration of methionine in the blood." [HPO_CONTRIBUTOR:gcarletti]
comment: Normal methionine blood levels are around 30 micromole per liter.
synonym: "Decreased plasma methionine" EXACT layperson []
synonym: "Decreased serum methionine" EXACT layperson []
xref: UMLS:C1848555
is_a: HP:0010901 ! Abnormal circulating methionine concentration

[Term]
id: HP:0003665
name: Amyotrophy of the musculature of the pelvis
def: "Muscular atrophy affecting the muscles of the pelvis." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025581
is_a: HP:0008988 ! Pelvic girdle muscle atrophy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-07T10:57:00Z

[Term]
id: HP:0003674
name: Onset
alt_id: HP:0003588
alt_id: HP:0003590
alt_id: HP:0003597
alt_id: HP:0003602
alt_id: HP:0003603
alt_id: HP:0003618
alt_id: HP:0003626
alt_id: HP:0003628
alt_id: HP:0003630
alt_id: HP:0003663
alt_id: HP:0003664
alt_id: HP:0003668
alt_id: HP:0011007
def: "The age group in which disease manifestations appear." [https://orcid.org/0000-0002-0736-9199]
comment: Adolescent is defined by WHO as a person between 10-19 years of age.
synonym: "Age of onset" EXACT []
synonym: "Age symptoms begin" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C0206132
is_a: HP:0031797 ! Clinical course

[Term]
id: HP:0003676
name: Progressive
def: "Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age." []
synonym: "Progressive disorder" RELATED []
synonym: "Worsens with time" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:252157006
xref: SNOMEDCT_US:255314001
xref: UMLS:C0205329
xref: UMLS:C1864985
is_a: HP:0003679 ! Pace of progression

[Term]
id: HP:0003677
name: Slowly progressive
alt_id: HP:0003675
alt_id: HP:0003681
def: "Applies to a disease manifestation that only slowly increases in scope or severity over the course of time." []
synonym: "Signs and symptoms worsen slowly with time" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Slow disease progression" EXACT []
synonym: "Slow progression" EXACT []
synonym: "Slowly progressive disorder" EXACT []
xref: UMLS:C1854494
is_a: HP:0003676 ! Progressive

[Term]
id: HP:0003678
name: Rapidly progressive
def: "Applies to a disease manifestation that quickly increases in scope or severity over the course of time." []
synonym: "Rapid progression" EXACT []
synonym: "Rapidly progressive disorder" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Worsening quickly" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1838681
xref: UMLS:C1850776
is_a: HP:0003676 ! Progressive

[Term]
id: HP:0003679
name: Pace of progression
xref: UMLS:C4025580
is_a: HP:0031797 ! Clinical course

[Term]
id: HP:0003680
name: Nonprogressive
alt_id: HP:0003685
def: "Applies to a disease manifestation that does not increase in scope or severity over the course of time, i.e., that does not worsen with age." []
synonym: "Does not worsen" EXACT [http://purl.obolibrary.org/obo/hp#layperson, https://orcid.org/0000-0002-6548-5200]
synonym: "Non-progressive" EXACT []
synonym: "Nonprogressive course" EXACT []
synonym: "Nonprogressive disorder" EXACT []
synonym: "Stationary" EXACT []
xref: SNOMEDCT_US:702322003
xref: UMLS:C3839460
is_a: HP:0003679 ! Pace of progression

[Term]
id: HP:0003682
name: Variable progression rate
def: "Applies to a disease manifestation that quickly increases in scope or severity with a rate that varies. For instance, progression may be slow in one time period and rapid in another." []
xref: UMLS:C1970284
is_a: HP:0003676 ! Progressive

[Term]
id: HP:0003683
name: obsolete Large beaked nose
is_obsolete: true
replaced_by: HP:0000444

[Term]
id: HP:0003687
name: Centrally nucleated skeletal muscle fibers
def: "An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells)." [https://orcid.org/0000-0002-0736-9199, PMID:20181480]
comment: Normally, the nuclei of muscle cells are located peripherally, immediately under the plasma membrane (sarcolemma).
synonym: "Central nuclei" EXACT []
synonym: "Centralised nuclei" EXACT uk_spelling []
synonym: "Centralised sarcomeric nuclei" EXACT uk_spelling []
synonym: "Centralized nuclei" EXACT []
synonym: "Centralized sarcomeric nuclei" EXACT []
synonym: "Centrally nucleated skeletal muscle fibres" EXACT uk_spelling []
xref: UMLS:C1842170
is_a: HP:0004303 ! Abnormal muscle fiber morphology

[Term]
id: HP:0003688
name: Cytochrome C oxidase-negative muscle fibers
alt_id: HP:0003734
alt_id: HP:0009006
def: "An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue." [https://orcid.org/0000-0002-0736-9199]
comment: This abnormality can be assayed by muscle biopsy. Cytochrome C oxidase is an enzyme of the respiratory electron transport chain of mitochondria that is located in the mitochondrial membrane.
synonym: "Cytochrome c oxidase deficiency in skeletal muscle" EXACT []
synonym: "Cytochrome C oxidase-negative muscle fibres" EXACT uk_spelling []
synonym: "Decreased activity of cytochrome C oxidase in muscle tissue" EXACT []
synonym: "Decreased skeletal muscle cytochrome c oxidase activity" EXACT []
xref: UMLS:C4021724
is_a: HP:0003800 ! Muscle abnormality related to mitochondrial dysfunction

[Term]
id: HP:0003689
name: Multiple mitochondrial DNA deletions
alt_id: HP:0003801
def: "The presence of multiple deletions of mitochondrial DNA (mtDNA)." [https://orcid.org/0000-0002-0736-9199]
comment: This feature can be demonstrated by muscle biopsy.
synonym: "Multiple mtDNA deletions" EXACT []
xref: UMLS:C3277376
is_a: HP:0009141 ! Depletion of mitochondrial DNA in muscle tissue

[Term]
id: HP:0003690
name: Limb muscle weakness
alt_id: HP:0002534
def: "Reduced strength and weakness of the muscles of the arms and legs." [https://orcid.org/0009-0006-4530-3154]
synonym: "Limb muscle weakness" EXACT layperson []
synonym: "Limb weakness" EXACT layperson []
xref: SNOMEDCT_US:713514005
xref: UMLS:C0587246
is_a: HP:0001324 ! Muscle weakness
is_a: HP:0009127 ! Abnormality of the musculature of the limbs

[Term]
id: HP:0003691
name: Scapular winging
alt_id: HP:0000783
def: "Abnormal protrusion of the scapula away from the surface of the back." [https://orcid.org/0000-0002-0736-9199]
comment: The serratus anterior muscle is responsible for controlling the scapula (shoulder blade), and weakness of this muscle (which may be caused by damage to the long thoracic nerve) can manifest as scular winging.
subset: hposlim_core
synonym: "Scapula alata" EXACT []
synonym: "Scapular weakness" RELATED []
synonym: "Winged scapulae" EXACT []
synonym: "Winged scapulas" EXACT []
synonym: "Winged shoulder blade" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: MEDDRA:10067628 "Winged scapula"
xref: SNOMEDCT_US:17211005
xref: UMLS:C0240953
xref: UMLS:C4072849
is_a: HP:0000782 ! Abnormal scapula morphology
is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature

[Term]
id: HP:0003693
name: Distal amyotrophy
alt_id: HP:0002484
alt_id: HP:0002934
alt_id: HP:0003486
alt_id: HP:0003699
alt_id: HP:0006786
alt_id: HP:0006864
alt_id: HP:0008937
alt_id: HP:0008958
alt_id: HP:0009015
alt_id: HP:0009040
alt_id: HP:0009065
def: "Muscular atrophy affecting muscles in the distal portions of the extremities." [https://orcid.org/0000-0002-0736-9199]
comment: Most polyneuropathies affect distal lower extremity miuscles early on. Polyneuropathies are roughly symmeetric in distribution and tend to affect nerves in a length-dependent manner, with the longest nerves first (stocking-glove distribution).
synonym: "Amyotrophy of distal limb muscles" EXACT []
synonym: "Distal amyotrophy, especially of the hands and feet" EXACT []
synonym: "Distal limb muscle atrophy" EXACT []
synonym: "Distal muscle atrophy" EXACT []
synonym: "Distal muscle atrophy, upper and lower limbs" EXACT []
synonym: "Distal muscle degeneration" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Distal muscle wasting" EXACT layperson []
synonym: "Distal muscular atrophy" EXACT []
synonym: "Muscle atrophy, distal" EXACT []
xref: UMLS:C1848736
is_a: HP:0003202 ! Skeletal muscle atrophy

[Term]
id: HP:0003694
name: Late-onset proximal muscle weakness
def: "Lack of strength of the proximal musculature occurring late in the clinical course." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025578
is_a: HP:0003701 ! Proximal muscle weakness

[Term]
id: HP:0003696
name: Absent epiphysis of the distal phalanx of the 5th finger
def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent end part of the outermost bone of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent end part of the outermost bone of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent end part of the outermost bone of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025577
is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger
is_a: HP:0009382 ! Absent epiphyses of the 5th finger
is_a: HP:0010246 ! Absent epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-22T01:37:43Z

[Term]
id: HP:0003697
name: Scapuloperoneal amyotrophy
alt_id: HP:0006920
alt_id: HP:0008957
def: "Muscular atrophy in the distribution of shoulder girdle and peroneal muscles." [https://orcid.org/0000-0002-0736-9199]
synonym: "Scapuloperoneal atrophy" EXACT []
xref: UMLS:C1842162
is_a: HP:0003202 ! Skeletal muscle atrophy

[Term]
id: HP:0003698
name: Difficulty standing
synonym: "Difficulty in standing" EXACT layperson []
synonym: "Standing instability" EXACT []
xref: SNOMEDCT_US:249902000
xref: UMLS:C0241237
is_a: HP:0004302 ! Functional motor deficit

[Term]
id: HP:0003700
name: Generalized amyotrophy
alt_id: HP:0008977
alt_id: HP:0008987
alt_id: HP:0008996
alt_id: HP:0009043
alt_id: HP:0009052
alt_id: HP:0009068
alt_id: HP:0009074
def: "Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles." [https://orcid.org/0000-0002-0736-9199]
synonym: "Diffuse amyotrophy" EXACT []
synonym: "Diffuse muscle atrophy" EXACT []
synonym: "Diffuse muscle wasting" EXACT []
synonym: "Diffuse skeletal muscle wasting" EXACT layperson []
synonym: "Generalised amyotrophy" EXACT uk_spelling []
synonym: "Generalised muscle atrophy" EXACT uk_spelling []
synonym: "Generalised muscle degeneration" EXACT uk_spelling []
synonym: "Generalized muscle atrophy" EXACT []
synonym: "Generalized muscle degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Muscle atrophy, diffuse" EXACT []
synonym: "Muscle atrophy, generalised" EXACT uk_spelling []
synonym: "Muscle atrophy, generalized" EXACT layperson []
synonym: "Muscular atrophy, generalised" EXACT uk_spelling []
synonym: "Muscular atrophy, generalized" EXACT []
xref: UMLS:C1389113
is_a: HP:0003202 ! Skeletal muscle atrophy

[Term]
id: HP:0003701
name: Proximal muscle weakness
alt_id: HP:0003432
alt_id: HP:0003475
alt_id: HP:0007195
alt_id: HP:0008950
alt_id: HP:0008961
alt_id: HP:0008975
alt_id: HP:0009033
alt_id: HP:0009075
def: "A lack of strength of the proximal muscles." [https://orcid.org/0000-0002-0736-9199]
comment: Removed logical definition that used anonymous class. Outstanding term request in UBERON for proximal muscle organ.
synonym: "Muscle weakness, proximal" EXACT []
synonym: "Proximal limb muscle weakness" EXACT []
synonym: "Proximal limb weakness" EXACT []
synonym: "Proximal neurogenic muscle weakness" RELATED layperson []
synonym: "Weakness in muscles of upper arms and upper legs" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:249939004
xref: UMLS:C0221629
xref: UMLS:C1838869
is_a: HP:0001324 ! Muscle weakness

[Term]
id: HP:0003704
name: Scapuloperoneal weakness
synonym: "Neurogenic scapuloperoneal syndrome" EXACT []
xref: UMLS:C1842161
is_a: HP:0001324 ! Muscle weakness

[Term]
id: HP:0003707
name: Calf muscle pseudohypertrophy
def: "Enlargement of the muscles of the calf due to their replacement by connective tissue or fat." [https://orcid.org/0000-0002-0736-9199]
comment: Pseudohypertrophy of the calf musculature is commonly seen in certain muscular dystrophies but also with spinal muscular atrophy and other denervating conditions.
synonym: "Pseudohypertrophy of the calves" EXACT []
xref: UMLS:C1839666
is_a: HP:0001430 ! Abnormal calf musculature morphology

[Term]
id: HP:0003710
name: Exercise-induced muscle cramps
alt_id: HP:0008983
alt_id: HP:0009000
def: "Sudden and involuntary contractions of one or more muscles brought on by physical exertion." [https://orcid.org/0000-0002-0736-9199]
synonym: "Exercise-induced muscle cramping" EXACT layperson []
synonym: "Exercise-induced muscle cramps" EXACT layperson []
synonym: "Muscle cramps following exercise" EXACT layperson []
synonym: "Muscle cramps on exercise" EXACT layperson []
synonym: "Muscle cramps on exertion" EXACT layperson []
synonym: "Muscle cramps with exertion" EXACT layperson []
xref: UMLS:C1855578
is_a: HP:0003394 ! Muscle spasm

[Term]
id: HP:0003712
name: Skeletal muscle hypertrophy
alt_id: HP:0009042
def: "Abnormal increase in muscle size and mass not due to training." [https://orcid.org/0000-0002-0736-9199]
comment: Increased muscle bulk based on clinical observation. Myofiber hyperplasia and hypertrophy may contribute but this is not easily tested clinically.
synonym: "Hypertrophic muscles" EXACT []
synonym: "Increased skeletal muscle cells" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Muscle hypertrophy" EXACT []
synonym: "Muscular hypertrophy" EXACT []
xref: UMLS:C2265792
is_a: HP:0030236 ! Abnormality of muscle size

[Term]
id: HP:0003713
name: Muscle fiber necrosis
alt_id: HP:0003726
def: "Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers." [https://orcid.org/0000-0002-0736-9199]
synonym: "Muscle fibre necrosis" EXACT uk_spelling []
xref: UMLS:C1850848
is_a: HP:0004303 ! Abnormal muscle fiber morphology

[Term]
id: HP:0003715
name: Myofibrillar myopathy
def: "Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins." [https://orcid.org/0000-0002-0736-9199]
comment: This feature is demonstrated by muscle biopsy.
synonym: "Myofibrillar changes" EXACT []
xref: SNOMEDCT_US:699269005
xref: UMLS:C2678065
is_a: HP:0003198 ! Myopathy

[Term]
id: HP:0003716
name: Generalized muscular appearance from birth
synonym: "Generalised muscular appearance from birth" EXACT uk_spelling []
xref: UMLS:C1837799
is_a: HP:0011805 ! Abnormal skeletal muscle morphology

[Term]
id: HP:0003717
name: Minimal subcutaneous fat
synonym: "Minimal fat below the skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1859442
is_a: HP:0003758 ! Reduced subcutaneous adipose tissue

[Term]
id: HP:0003719
name: Muscle mounding
def: "Percussion-induced, local prolonged contractions (mounding) in muscle persisting for several seconds." [PMID:20300641]
comment: Transient swelling of muscle induced by percussion (e.g., tapping on muscle with a reflex hammer).
xref: UMLS:C1853702
is_a: HP:0010548 ! Percussion myotonia

[Term]
id: HP:0003720
name: Generalized muscle hypertrophy
def: "Hypertrophy (increase in size) of muscle tissue in a generalized (not localized) distribution." [https://orcid.org/0000-0002-0736-9199]
synonym: "Generalised increase in muscle cell size" EXACT uk_spelling []
synonym: "Generalised muscle hypertrophy" EXACT uk_spelling []
synonym: "Generalized increase in muscle cell size" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C3805639
is_a: HP:0003712 ! Skeletal muscle hypertrophy

[Term]
id: HP:0003722
name: Neck flexor weakness
alt_id: HP:0000469
def: "Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Neck flexion weakness" EXACT layperson []
synonym: "Neck flexor muscle weakness" EXACT []
xref: UMLS:C1843637
is_a: HP:0000467 ! Neck muscle weakness

[Term]
id: HP:0003724
name: Shoulder girdle muscle atrophy
def: "Amyotrophy affecting the muscles of the shoulder girdle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Shoulder girdle atrophy" EXACT []
synonym: "Shoulder girdle muscle wasting" EXACT layperson []
synonym: "Shoulder-girdle muscle atrophy" EXACT layperson []
xref: UMLS:C1847766
is_a: HP:0003797 ! Limb-girdle muscle atrophy

[Term]
id: HP:0003725
name: Firm muscles
def: "A state of increased firmness (i.e., a reduced tendency to yield to pressure) of skeletal muscle tissue. This finding is ascertained by palpation and is to be distinguished from increased muscle tone (abnormal elevation in the resting tension of a muscle, leading to stiffness and resistance to movement)." [PMID:15389706, PMID:19213027]
comment: This finding has been described in Arthrogryposis, distal, type 5 and Glycogen storage disease II.
xref: UMLS:C1850656
is_a: HP:0011805 ! Abnormal skeletal muscle morphology

[Term]
id: HP:0003729
name: Enteroviral dermatomyositis syndrome
xref: UMLS:C3806660
is_a: HP:0002743 ! Recurrent enteroviral infections

[Term]
id: HP:0003730
name: EMG: myotonic runs
def: "Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG)." [https://orcid.org/0000-0002-0736-9199]
comment: This is a characteristic abnormality seen in the myotonias and periodic paralyzes.
synonym: "EMG: spontaneous, repetitive electrical activity" RELATED []
xref: UMLS:C4020837
xref: UMLS:C4025576
is_a: HP:0002486 ! Myotonia
is_a: HP:0003457 ! EMG abnormality

[Term]
id: HP:0003731
name: Quadriceps muscle weakness
def: "Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Quadriceps weakness" EXACT layperson []
xref: SNOMEDCT_US:300948004
xref: UMLS:C0577655
is_a: HP:0008994 ! Proximal muscle weakness in lower limbs

[Term]
id: HP:0003733
name: Thigh hypertrophy
def: "Muscle hypertrophy affecting the thighs." [https://orcid.org/0000-0002-0736-9199]
comment: Proximal lower limb hypertrophy
synonym: "Increased thigh size" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1846674
is_a: HP:0008968 ! Muscle hypertrophy of the lower extremities

[Term]
id: HP:0003736
name: Autophagic vacuoles
def: "The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue." [https://orcid.org/0000-0002-0736-9199, PMID:17027858]
xref: UMLS:C0544966
is_a: HP:0004303 ! Abnormal muscle fiber morphology

[Term]
id: HP:0003737
name: Mitochondrial myopathy
alt_id: HP:0008960
def: "A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers." [https://orcid.org/0000-0002-0736-9199]
comment: This is a bundled term that should not be used for future annotations.
xref: SNOMEDCT_US:16851005
xref: UMLS:C0162670
is_a: HP:0003800 ! Muscle abnormality related to mitochondrial dysfunction

[Term]
id: HP:0003738
name: Exercise-induced myalgia
def: "The occurrence of an unusually high amount of muscle pain following exercise." [https://orcid.org/0000-0002-0736-9199]
synonym: "Exercise-induced muscle pain" EXACT layperson []
synonym: "Muscle pain on exercise" EXACT layperson []
synonym: "Muscle pain with exercise" EXACT layperson []
synonym: "Muscle pain, exercise-induced" EXACT layperson []
xref: UMLS:C1850830
is_a: HP:0003326 ! Myalgia

[Term]
id: HP:0003739
name: Myoclonic spasms
alt_id: HP:0006963
xref: UMLS:C3806442
is_a: HP:0001336 ! Myoclonus

[Term]
id: HP:0003740
name: Myotonia with warm-up phenomenon
def: "Myotonia that occurs after a period of rest and decreases with continuing exercise." [https://orcid.org/0000-0002-0736-9199, PMID:7678441]
xref: UMLS:C4025575
is_a: HP:0002486 ! Myotonia

[Term]
id: HP:0003741
name: obsolete Congenital muscular dystrophy
is_obsolete: true
replaced_by: HP:0003560

[Term]
id: HP:0003743
name: Genetic anticipation
def: "A type of autosomal dominant inheritance involving a gene that exhibits anticipation, the increase in severity and/or an earlier age of onset in subsequent generations." [https://orcid.org/0000-0002-0736-9199]
comment: This mode of inheritance is characteristic of trinucleotide and some other repeat disorders.
synonym: "Autosomal dominant with genetic anticipation" EXACT []
xref: UMLS:C0600498
is_a: HP:0034335 ! Inheritance qualifier

[Term]
id: HP:0003744
name: Genetic anticipation with paternal anticipation bias
def: "A type of genetic anticipation observed predominantly upon transmission from affected males." [https://orcid.org/0000-0002-0736-9199]
synonym: "Paternal anticipation bias" RELATED []
xref: UMLS:C1834002
xref: UMLS:C4025574
is_a: HP:0003743 ! Genetic anticipation

[Term]
id: HP:0003745
name: Sporadic
alt_id: HP:0001420
alt_id: HP:0003747
alt_id: HP:0003769
def: "Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected." [https://orcid.org/0000-0002-0736-9199]
synonym: "Isolated cases" EXACT []
synonym: "No previous family history" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1853237
is_a: HP:0000005 ! Mode of inheritance

[Term]
id: HP:0003749
name: Pelvic girdle muscle weakness
alt_id: HP:0003692
alt_id: HP:0008999
alt_id: HP:0009036
def: "Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hip girdle muscle weakness" EXACT []
synonym: "Hip girdle weakness" EXACT []
synonym: "Hip-girdle muscle weakness" EXACT []
synonym: "Pelvic girdle weakness" EXACT []
xref: SNOMEDCT_US:249941003
xref: UMLS:C0427064
is_a: HP:0003325 ! Limb-girdle muscle weakness

[Term]
id: HP:0003750
name: Increased muscle fatiguability
def: "An abnormal, increased fatiguability of the musculature." [https://orcid.org/0000-0002-0736-9199]
synonym: "Muscle fatigue" RELATED []
xref: SNOMEDCT_US:80449002
xref: UMLS:C0242979
xref: UMLS:C4025573
is_a: HP:0011804 ! Abnormal muscle physiology

[Term]
id: HP:0003752
name: Episodic flaccid weakness
def: "Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025572
is_a: HP:0010547 ! Muscle flaccidity

[Term]
id: HP:0003755
name: Type 1 fibers relatively smaller than type 2 fibers
def: "The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers." [https://orcid.org/0000-0002-0736-9199]
comment: This feature can only be observed on muscle biopsy.
synonym: "Type 1 fibres relatively smaller than type 2 fibres" EXACT uk_spelling []
xref: UMLS:C4025571
is_a: HP:0012084 ! Abnormality of skeletal muscle fiber size

[Term]
id: HP:0003756
name: Skeletal myopathy
xref: SNOMEDCT_US:75047002
xref: UMLS:C1533847
is_a: HP:0003198 ! Myopathy

[Term]
id: HP:0003758
name: Reduced subcutaneous adipose tissue
alt_id: HP:0001002
alt_id: HP:0007409
def: "A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness." []
synonym: "Decreased subcutaneous adipose tissue" EXACT []
synonym: "Decreased subcutaneous fat" EXACT []
synonym: "Reduced fat tissue below the skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Reduced subcutaneous fat" EXACT []
synonym: "Scanty adipose tissue" EXACT []
xref: SNOMEDCT_US:248316006
xref: UMLS:C0424631
xref: UMLS:C1857657
is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue
is_a: HP:0040063 ! Decreased adipose tissue

[Term]
id: HP:0003759
name: Hypoplasia of lymphatic vessels
def: "Congenital underdevelopment of lymph vessels." [https://orcid.org/0000-0002-0736-9199]
comment: This feature can be demonstrated by lymphography.
synonym: "Underdeveloped lymphatic vessels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025570
is_a: HP:0100766 ! Abnormal lymphatic vessel morphology

[Term]
id: HP:0003760
name: Percussion-induced rapid rolling muscle contractions
def: "Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4280804
is_a: HP:0010548 ! Percussion myotonia

[Term]
id: HP:0003761
name: Calcinosis
def: "Formation of calcium deposits in any soft tissue." [https://orcid.org/0000-0002-0736-9199]
synonym: "Calcium buildup in soft tissues of body" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:6595006
xref: UMLS:C0006663
is_a: HP:0011805 ! Abnormal skeletal muscle morphology

[Term]
id: HP:0003762
name: Uterus didelphys
def: "A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Didelphic uteri" EXACT []
synonym: "Didelphic uterus" EXACT []
synonym: "Didelphyc uterus" EXACT []
synonym: "Double uterus" RELATED layperson []
synonym: "Doubling of uterus" EXACT []
synonym: "Duplex uterus" EXACT []
synonym: "Duplicated uterus" EXACT []
synonym: "Duplication of uterus" EXACT []
synonym: "Uterine didelphis" EXACT []
synonym: "Uterine didelphys" EXACT []
synonym: "Uterus didelphis" EXACT []
synonym: "Uterus didelphus" EXACT []
synonym: "Uterus duplex" EXACT []
xref: SNOMEDCT_US:15545001
xref: SNOMEDCT_US:22504001
xref: UMLS:C0152240
xref: UMLS:C0266393
is_a: HP:0031105 ! Abnormal uterus morphology

[Term]
id: HP:0003763
name: Bruxism
def: "Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep, but also can occur while the affected individual is awake." [PMID:29926505]
synonym: "Teeth grinding" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
xref: SNOMEDCT_US:191983006
xref: SNOMEDCT_US:90207007
xref: UMLS:C0006325
is_a: HP:5200017 ! Stereotypic movements of face and head
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-0736-9199
property_value: terms:contributor https://orcid.org/0000-0002-4142-7153
property_value: terms:contributor https://orcid.org/0000-0002-4422-1708
property_value: terms:contributor https://orcid.org/0000-0003-3777-1389

[Term]
id: HP:0003764
name: Nevus
def: "A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin." [https://orcid.org/0000-0002-0736-9199]
comment: The word Nevus derives from the Latin word Knee-vus meaning birthmark or mole.
synonym: "Mole" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Naevi" RELATED []
synonym: "Naevus" EXACT []
synonym: "Nevi" RELATED []
xref: SNOMEDCT_US:21119008
xref: SNOMEDCT_US:400096001
xref: SNOMEDCT_US:51697005
xref: UMLS:C0027960
xref: UMLS:C0027962
is_a: HP:0011355 ! Localized skin lesion

[Term]
id: HP:0003765
name: Psoriasiform dermatitis
def: "A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales)." [https://orcid.org/0000-0002-0736-9199]
comment: The label Psoriaform dermatitis is used to emphasize that this term is meant to describe the morhpological abnormality of the skin and not all of the manifestations of the disease psoriasis (which can also include itching and nail pitsand other manifestations).
synonym: "Psoriasis" EXACT []
xref: SNOMEDCT_US:9014002
xref: UMLS:C0033860
is_a: HP:0011123 ! Inflammatory abnormality of the skin

[Term]
id: HP:0003768
name: Periodic paralysis
def: "Episodes of muscle weakness." [https://orcid.org/0000-0002-0736-9199]
synonym: "Episodic paralysis" EXACT []
xref: SNOMEDCT_US:198030008
xref: UMLS:C1279412
is_a: HP:0003470 ! Paralysis

[Term]
id: HP:0003771
name: Pulp calcification
def: "Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies." [https://orcid.org/0000-0002-9338-3017, PMID:31468724]
synonym: "False denticles" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "False pulp stones" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Pulp calcifications" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Pulp denticles" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Pulp stones" EXACT layperson []
synonym: "Pulpoliths" EXACT []
synonym: "True denticles" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "True pulp stones" NARROW [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:57602001
xref: UMLS:C1527284
xref: UMLS:C4280259
xref: UMLS:C4280546
is_a: HP:0006479 ! Abnormal dental pulp morphology

[Term]
id: HP:0003774
name: Stage 5 chronic kidney disease
alt_id: HP:0000101
alt_id: HP:0004720
alt_id: HP:0004725
alt_id: HP:0004733
alt_id: HP:0004738
alt_id: HP:0005570
def: "A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine." [https://orcid.org/0000-0002-0736-9199]
comment: Equivalent with the National Kidney Foundation's definition of stage 5 chronic kidney disease.
synonym: "Chronic renal failure" EXACT []
synonym: "End stage renal disease" EXACT []
synonym: "End stage renal failure" EXACT []
synonym: "End-stage renal disease" EXACT []
synonym: "End-stage renal failure" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Renal failure, endstage" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Stage 5 chronic kidney disease" EXACT layperson []
xref: SNOMEDCT_US:433146000
xref: UMLS:C2316810
is_a: HP:0012622 ! Chronic kidney disease

[Term]
id: HP:0003777
name: Pili torti
def: "Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Flattened and twisted hair" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:17170005
xref: UMLS:C0263491
is_a: HP:0003328 ! Abnormal hairshaft morphology

[Term]
id: HP:0003778
name: Short mandibular rami
alt_id: HP:0005447
synonym: "Decreased height of mandibular ramus" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of mandibular ramus" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Short body and ramus of mandible" EXACT []
synonym: "Short mandibular ramus" EXACT []
synonym: "Underdeveloped mandibular rami" EXACT []
xref: UMLS:C1841648
xref: UMLS:C4280545
is_a: HP:0000347 ! Micrognathia
is_a: HP:3000003 ! Abnormal mandibular ramus morphology

[Term]
id: HP:0003779
name: Antegonial notching of mandible
synonym: "Deep antegonial notch of mandible" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Large antegonial notch of mandible" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1844509
is_a: HP:0010753 ! Midline defect of mandible

[Term]
id: HP:0003781
name: Excessive salivation
def: "Excessive production of saliva." [https://orcid.org/0000-0002-0736-9199]
synonym: "Excessive production of saliva" EXACT []
synonym: "Excessive salivation" EXACT layperson []
synonym: "Hypersalivation" EXACT []
synonym: "Mouth watering" EXACT layperson []
synonym: "Oversalivation" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Ptyalism" EXACT []
synonym: "Watery mouth" EXACT layperson []
xref: SNOMEDCT_US:275295002
xref: SNOMEDCT_US:53827007
xref: SNOMEDCT_US:62718007
xref: UMLS:C0013132
xref: UMLS:C0037036
is_a: HP:0100755 ! Abnormality of salivation

[Term]
id: HP:0003782
name: Eunuchoid habitus
def: "A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more)." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025569
is_a: HP:0004325 ! Decreased body weight

[Term]
id: HP:0003783
name: obsolete Externally rotated/abducted legs
is_obsolete: true
replaced_by: HP:0008796

[Term]
id: HP:0003784
name: Type 1 collagen overmodification
xref: UMLS:C1970463
is_a: HP:0011862 ! Abnormal bone collagen fibril morphology

[Term]
id: HP:0003785
name: Decreased CSF homovanillic acid concentration
def: "Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine." [HPO_CONTRIBUTOR:KI_phemming, PMID:12615172]
xref: UMLS:C4280803
is_a: HP:0034200 ! Abnormal CSF homovanillic acid concentration

[Term]
id: HP:0003787
name: Type 1 and type 2 muscle fiber minicore regions
def: "Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers." [https://orcid.org/0000-0002-0736-9199]
synonym: "Type 1 and type 2 muscle fibre minicore regions" EXACT uk_spelling []
xref: UMLS:C4025568
is_a: HP:0003789 ! Minicore myopathy

[Term]
id: HP:0003789
name: Minicore myopathy
alt_id: HP:0003804
def: "Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1850674
is_a: HP:0003198 ! Myopathy

[Term]
id: HP:0003791
name: Deposits immunoreactive to beta-amyloid protein
xref: UMLS:C1853934
is_a: HP:0004303 ! Abnormal muscle fiber morphology

[Term]
id: HP:0003795
name: Short middle phalanx of toe
def: "Developmental hypoplasia (shortening) of middle phalanx of toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Short middle bones (feet)" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Short middle phalanges of toes" EXACT []
xref: UMLS:C4021723
is_a: HP:0001831 ! Short toe
is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes

[Term]
id: HP:0003796
name: Irregular iliac crest
def: "Irregularity of the iliac crest, which is the superior border of the wing of the ilium." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1855180
is_a: HP:0002867 ! Abnormal ilium morphology

[Term]
id: HP:0003797
name: Limb-girdle muscle atrophy
def: "Muscular atrophy affecting the muscles of the limb girdle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Limb-girdle myopathy" BROAD []
synonym: "Wasting of limb-girdle muscle" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1404521
xref: UMLS:C1842552
is_a: HP:0003202 ! Skeletal muscle atrophy
is_a: HP:0009127 ! Abnormality of the musculature of the limbs

[Term]
id: HP:0003798
name: Nemaline bodies
def: "Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces." [https://orcid.org/0000-0002-0736-9199, PMID:11333380]
comment: This finding can be demonstrated by muscle biopsy, which shows nemaline bodies (rods) on Gomori trichrome staining. Rod bodies characteristically stain red with MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative with ATPase, NADH and SDH as they lack myosin and mitochondria. Rods are characteristic of nemaline myopathy but also seen in central core disease and various other diseases which include neurogenic disorders (amyotrophic lateral sclerosis, spinal muscular atrophy, undefined), inflammatory myopathies (dermatomyositis, polymyositis, periarteritis nodosa), metabolic myopathy (mitochondrial myopathy), muscular dystrophy (LGMD) and some undefined myopathies (Liouet al; Diagnostic role of nemaline rod in neuromuscular disease. Acta Neurol Sinica 1992;1: 218-23).
synonym: "Nemaline rods" EXACT []
xref: UMLS:C3808039
is_a: HP:0100303 ! Muscle fiber cytoplasmatic inclusion bodies

[Term]
id: HP:0003799
name: Marked delay in bone age
alt_id: HP:0005742
alt_id: HP:0005843
synonym: "Marked delay in bone age" EXACT layperson []
synonym: "Marked retardation in skeletal maturation" EXACT []
synonym: "Markedly retarded bone age" EXACT layperson []
xref: UMLS:C1868549
is_a: HP:0002750 ! Delayed skeletal maturation

[Term]
id: HP:0003800
name: Muscle abnormality related to mitochondrial dysfunction
xref: UMLS:C4025566
is_a: HP:0011804 ! Abnormal muscle physiology

[Term]
id: HP:0003803
name: Type 1 muscle fiber predominance
alt_id: HP:0003721
alt_id: HP:0003807
def: "An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy)." [https://orcid.org/0000-0002-0736-9199]
comment: This finding is demonstrated by muscle biopsy.
synonym: "Type 1 muscle fibre predominance" EXACT uk_spelling []
synonym: "Type I muscle fiber predominance" EXACT []
synonym: "Type I muscle fibre predominance" EXACT uk_spelling []
xref: UMLS:C1854387
is_a: HP:0033684 ! Abnormal muscle fiber-type distribution

[Term]
id: HP:0003805
name: Rimmed vacuoles
alt_id: HP:0009029
def: "Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions." [https://orcid.org/0000-0002-0736-9199]
comment: Rimmed vacuoles are characteristic for inclusion-bosy myositis, but are also seen an a number of other diseases. This term implies that rimmed vacuoles are found histologically. In some cases, the majority of muscle fibers are involved, but in others, rimmed vacuoles can be found in only a minority of fibers.
synonym: "Rimmed vacuoles on biopsy" EXACT []
xref: UMLS:C1853932
is_a: HP:0004303 ! Abnormal muscle fiber morphology

[Term]
id: HP:0003808
name: Abnormal muscle tone
synonym: "Abnormal muscle tone" EXACT layperson []
xref: UMLS:C0852413
is_a: HP:0011804 ! Abnormal muscle physiology

[Term]
id: HP:0003809
name: Reduced intrathoracic adipose tissue
def: "An abnormally reduced amount of adipose tissue in the thoracic cavity." []
xref: UMLS:C1837797
is_a: HP:0040063 ! Decreased adipose tissue

[Term]
id: HP:0003810
name: Late-onset distal muscle weakness
alt_id: HP:0003728
xref: UMLS:C4025565
is_a: HP:0002460 ! Distal muscle weakness

[Term]
id: HP:0003811
name: Neonatal death
alt_id: HP:0003820
alt_id: HP:0003824
def: "Death within the first 28 days of life." [https://orcid.org/0000-0002-0736-9199]
synonym: "Neonatal lethal" EXACT layperson []
xref: SNOMEDCT_US:276506001
xref: UMLS:C0410916
is_a: HP:0011420 ! Age of death

[Term]
id: HP:0003812
name: Phenotypic variability
alt_id: HP:0003813
alt_id: HP:0003815
alt_id: HP:0003821
alt_id: HP:0003822
def: "A variability of phenotypic features." [https://orcid.org/0000-0002-0736-9199]
comment: This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO.
synonym: "Clinical heterogeneity" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Highly variable clinical phenotype" EXACT []
synonym: "Highly variable phenotype" EXACT []
synonym: "Highly variable phenotype and severity" EXACT []
synonym: "Highly variable phenotype, even within families" EXACT []
synonym: "Variable phenotype" EXACT []
synonym: "Variable phenotypic severity" EXACT []
xref: UMLS:C1837514
xref: UMLS:C1839039
xref: UMLS:C1850667
xref: UMLS:C1866210
is_a: HP:0012823 ! Clinical modifier

[Term]
id: HP:0003819
name: Death in childhood
alt_id: HP:0001432
alt_id: HP:0004149
def: "Death in during childhood, defined here as between the ages of 2 and 10 years." [https://orcid.org/0000-0002-0736-9199]
comment: previous def was: 'has part' some (premature and ('inheres in' some death) and ('has modifier' some abnormal))
synonym: "Death in childhood" EXACT layperson []
xref: UMLS:C1843392
is_a: HP:0011420 ! Age of death

[Term]
id: HP:0003826
name: Stillbirth
alt_id: HP:0001624
alt_id: HP:0001625
def: "Death of the fetus in utero after at least 22 weeks of gestation." [https://orcid.org/0000-0002-0736-9199]
comment: The age at which fetal demise is legally classified asa a miscarriage varies between countries with the US being 20 gestational weeks and the UK being 24 gestational weeks. The HPO chooses the average of these age ranges.
synonym: "Fetal death" RELATED layperson []
synonym: "Fetal demise" RELATED []
synonym: "Foetal death" RELATED uk_spelling []
synonym: "Foetal demise" RELATED uk_spelling []
synonym: "Late fetal death" EXACT []
synonym: "Late foetal death" EXACT uk_spelling []
synonym: "Stillbirth" EXACT layperson []
synonym: "Stillborn" EXACT layperson []
xref: SNOMEDCT_US:237364002
xref: SNOMEDCT_US:276507005
xref: UMLS:C0015927
xref: UMLS:C0595939
is_a: HP:0034241 ! Prenatal death

[Term]
id: HP:0003828
name: Variable expressivity
alt_id: HP:0003814
alt_id: HP:0003825
def: "A variable severity of phenotypic features." [https://orcid.org/0000-0002-0736-9199]
comment: This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO.
synonym: "Highly variable severity" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Variable severity" EXACT []
xref: UMLS:C1861403
xref: UMLS:C1866862
is_a: HP:0003812 ! Phenotypic variability

[Term]
id: HP:0003829
name: Typified by incomplete penetrance
alt_id: HP:0003830
def: "Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years." [https://orcid.org/0000-0002-0736-9199]
comment: For example, Van der Woude syndrome due to IRF6 causes cleft lip and/or palate with penetrance estimated at 80%, and C9orf72 causes frontotemporal dementia and/or amyotrophic lateral sclerosis with approximately 50% penetrance.
synonym: "Incomplete penetrance" EXACT []
synonym: "Reduced penetrance" EXACT []
xref: UMLS:C1836598
is_a: HP:0034335 ! Inheritance qualifier

[Term]
id: HP:0003831
name: Typified by age-related disease onset
def: "Description of conditions in which age of onset is typically later in life and in which penetrance is dependent on the age of the subject." [https://orcid.org/0000-0002-0736-9199]
synonym: "Age dependent penetrance" EXACT []
synonym: "Age-dependent penetrance" EXACT []
synonym: "Typified by age-related penetrance" EXACT []
xref: UMLS:C1835978
is_a: HP:0034335 ! Inheritance qualifier

[Term]
id: HP:0003832
name: Abnormality of the tibial plateaux
xref: UMLS:C4025564
is_a: HP:0002992 ! Abnormal tibia morphology

[Term]
id: HP:0003833
name: Laterally deficient tibial plateaux
xref: UMLS:C4025563
is_a: HP:0003832 ! Abnormality of the tibial plateaux

[Term]
id: HP:0003834
name: Shoulder dislocation
def: "A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation." [https://orcid.org/0000-0002-0736-9199]
synonym: "Shoulder dislocation" EXACT layperson []
xref: SNOMEDCT_US:125615005
xref: SNOMEDCT_US:417076003
xref: UMLS:C0037005
is_a: HP:0003043 ! Abnormal shoulder morphology
is_a: HP:0030310 ! Upper extremity joint dislocation

[Term]
id: HP:0003835
name: Shoulder subluxation
def: "A partial dislocation of the shoulder joint." [https://orcid.org/0000-0002-0736-9199]
synonym: "Partial shoulder dislocation" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:263051004
xref: UMLS:C0434744
is_a: HP:0032153 ! Joint subluxation

[Term]
id: HP:0003836
name: Stippled calcification of the shoulder
xref: UMLS:C4025562
is_a: HP:0003043 ! Abnormal shoulder morphology

[Term]
id: HP:0003837
name: Soft-tissue ossification around the shoulders
def: "Formation of calcified tissue in the soft tissues surrounding the shoulder." [https://orcid.org/0000-0002-0736-9199]
synonym: "Calcification of the soft-tissue around the shoulders" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025561
is_a: HP:0011986 ! Ectopic ossification

[Term]
id: HP:0003839
name: Abnormal upper limb epiphysis morphology
alt_id: HP:0003845
synonym: "Abnormal shape of end part of upper limb long bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality involving the epiphyses of the upper limbs" EXACT []
synonym: "Abnormality of upper limb epiphysis morphology" EXACT []
synonym: "Epihyseal plate abnormality of the upper limbs" EXACT []
xref: UMLS:C4021722
is_a: HP:0002817 ! Abnormality of the upper limb
is_a: HP:0006505 ! Abnormal limb epiphysis morphology

[Term]
id: HP:0003840
name: Delayed upper limb epiphyseal ossification
def: "A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Delayed maturation of the end part of the upper limb bone" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025560
xref: UMLS:C4280544
is_a: HP:0002663 ! Delayed epiphyseal ossification
is_a: HP:0003839 ! Abnormal upper limb epiphysis morphology

[Term]
id: HP:0003841
name: Fragmented epiphyses of the upper limbs
synonym: "Fragmented end part of upper limb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025559
is_a: HP:0003839 ! Abnormal upper limb epiphysis morphology
is_a: HP:0100168 ! Fragmented epiphyses

[Term]
id: HP:0003842
name: Irregular epiphyses of the upper limbs
synonym: "Irregular end part of upper limb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025558
is_a: HP:0003839 ! Abnormal upper limb epiphysis morphology
is_a: HP:0010582 ! Irregular epiphyses

[Term]
id: HP:0003843
name: Round epiphyses of the upper limbs
synonym: "Round end part of upper limb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025557
is_a: HP:0003839 ! Abnormal upper limb epiphysis morphology

[Term]
id: HP:0003844
name: Small epiphyses of the upper limbs
synonym: "Small end part of upper limb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025556
is_a: HP:0003839 ! Abnormal upper limb epiphysis morphology
is_a: HP:0010585 ! Small epiphyses

[Term]
id: HP:0003846
name: Wide epiphyseal plates of the upper limbs
synonym: "Broad epiphyseal plates of the upper limbs" EXACT []
synonym: "Broad growth plates of upper limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4020913
is_a: HP:0003839 ! Abnormal upper limb epiphysis morphology

[Term]
id: HP:0003848
name: Cupped metaphyses of the upper limbs
synonym: "Cupped wide portion of the upper limb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025555
is_a: HP:0003021 ! Metaphyseal cupping
is_a: HP:0009809 ! Abnormal upper limb metaphysis morphology

[Term]
id: HP:0003849
name: Flared upper limb metaphysis
def: "The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm." [https://orcid.org/0000-0002-0736-9199]
synonym: "Flared metaphyses of the upper limbs" EXACT []
synonym: "Flared wide portion of the upper limb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021721
is_a: HP:0003015 ! Flared metaphysis
is_a: HP:0003856 ! Upper limb metaphyseal widening

[Term]
id: HP:0003850
name: Upper-limb metaphyseal irregularity
synonym: "Irregular metaphyses of the upper limbs" EXACT []
synonym: "Irregular wide portion of upper limb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021720
is_a: HP:0003025 ! Metaphyseal irregularity
is_a: HP:0009809 ! Abnormal upper limb metaphysis morphology

[Term]
id: HP:0003851
name: Lytic defects in metaphyses of the upper limbs
xref: UMLS:C4025554
is_a: HP:0009809 ! Abnormal upper limb metaphysis morphology

[Term]
id: HP:0003852
name: Normal density transverse bands in metaphyses of the upper limbs
xref: UMLS:C4025553
is_a: HP:0009809 ! Abnormal upper limb metaphysis morphology

[Term]
id: HP:0003853
name: Sclerosis with transverse striations in metaphyses of the upper limbs
xref: UMLS:C4025552
is_a: HP:0003854 ! Sclerosis of metaphyses of the upper limbs

[Term]
id: HP:0003854
name: Sclerosis of metaphyses of the upper limbs
synonym: "Increased bone density in wide portion of the upper limb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025551
is_a: HP:0009809 ! Abnormal upper limb metaphysis morphology

[Term]
id: HP:0003855
name: Spurred metaphyses of the upper limbs
synonym: "Spurred wide portion of upper limb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025550
is_a: HP:0005054 ! Metaphyseal spurs
is_a: HP:0009809 ! Abnormal upper limb metaphysis morphology

[Term]
id: HP:0003856
name: Upper limb metaphyseal widening
def: "Increased width (breadth) of metaphyses of the arms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad wide portion of upper limb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Wide/broad metaphyses of the upper limbs" EXACT []
xref: UMLS:C4021719
is_a: HP:0003016 ! Metaphyseal widening
is_a: HP:0009809 ! Abnormal upper limb metaphysis morphology

[Term]
id: HP:0003858
name: Cortical diaphyseal irregularity of the upper limbs
xref: UMLS:C4025549
is_a: HP:0009808 ! Anomaly of the upper limb diaphyses

[Term]
id: HP:0003859
name: Cortical diaphyseal thickening of the upper limbs
xref: UMLS:C4025548
is_a: HP:0009808 ! Anomaly of the upper limb diaphyses

[Term]
id: HP:0003860
name: Diaphyseal sclerosis of the upper limbs
def: "An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased bone density in central part of long bone of upper limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025547
is_a: HP:0003034 ! Diaphyseal sclerosis
is_a: HP:0009808 ! Anomaly of the upper limb diaphyses

[Term]
id: HP:0003861
name: Broad diaphyses of the upper limbs
synonym: "Broad shaft of long bone of the upper limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Wide diaphyses of the upper limbs" EXACT []
synonym: "Wide shaft of long bone of the upper limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021718
is_a: HP:0009808 ! Anomaly of the upper limb diaphyses

[Term]
id: HP:0003862
name: Absent humerus
def: "Missing humerus bone associated with congenital failure of development." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Absent long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Aplasia of the humerus" EXACT []
synonym: "Aplastic humerus" EXACT []
xref: UMLS:C2678399
is_a: HP:0006507 ! Aplasia/hypoplasia of the humerus

[Term]
id: HP:0003863
name: Angulated humerus
synonym: "Angulated long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025546
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003864
name: Bifid humerus
def: "Clefting affecting the humerus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Notched long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025545
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003865
name: Bowed humerus
def: "A bending or abnormal curvature of the humerus." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Bowed long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Bowing of the humerus" EXACT []
synonym: "Humeral bowing" EXACT []
xref: UMLS:C1859460
is_a: HP:0006488 ! Bowing of the arm
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003866
name: Coarse humeral trabeculae
xref: UMLS:C4025544
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003867
name: Humeral cortical irregularity
xref: UMLS:C4025543
is_a: HP:0005731 ! Cortical irregularity
is_a: HP:0010629 ! Abnormal morphology of the cortex of the humerus

[Term]
id: HP:0003868
name: Humeral cortical thickening
xref: UMLS:C4025542
is_a: HP:0000935 ! Thickened cortex of long bones
is_a: HP:0010629 ! Abnormal morphology of the cortex of the humerus

[Term]
id: HP:0003869
name: Humeral cortical thinning
xref: UMLS:C4025541
is_a: HP:0002753 ! Thin bony cortex
is_a: HP:0010629 ! Abnormal morphology of the cortex of the humerus

[Term]
id: HP:0003870
name: Crumpled humerus
alt_id: HP:0003873
synonym: "Crumpled long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025540
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003871
name: Deformed humerus
synonym: "Deformed long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025539
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003872
name: Humeral exostoses
def: "Presence of more than one exostosis originating in one or both humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025538
is_a: HP:0002762 ! Multiple exostoses
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003874
name: Humerus varus
subset: hposlim_core
xref: UMLS:C4025537
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003875
name: Humeral lytic defects
def: "Destruction of an area of humerus bone due to a disease process, such as cancer." []
comment: Osteolytic defects can be observed by radiology studies such as an X-ray; however, the type of condition that is causing the lesion cannot be fully determined by the X-ray alone.
synonym: "Lytic defects of the humerus" EXACT []
xref: UMLS:C4025536
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003876
name: Osteoporotic humerus
xref: UMLS:C4025535
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003877
name: Oval transradiancy of humerus
synonym: "Humeral oval transradiancy" EXACT []
xref: UMLS:C4025534
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003878
name: Periosteal new bone of humerus
xref: UMLS:C4025533
is_a: HP:0030314 ! Periostosis
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003879
name: Humeral pseudarthrosis
synonym: "False joint (long bone in upper arm)" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025532
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003880
name: Sclerotic foci of the humerus
synonym: "Humeral sclerotic foci" EXACT []
xref: UMLS:C4021717
is_a: HP:0003881 ! Humeral sclerosis

[Term]
id: HP:0003881
name: Humeral sclerosis
synonym: "Increased bone density in long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Sclerosis of humerus" EXACT []
xref: UMLS:C4021716
is_a: HP:0006392 ! Increased density of long bones
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003882
name: Slender humerus
def: "Reduction in diameter of the humerus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Slender long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021851
is_a: HP:0003100 ! Slender long bone
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003883
name: Tapered humerus
synonym: "Tapered long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025531
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003884
name: Triangular humerus
synonym: "Triangular long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025530
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003885
name: Undermodeled humerus
xref: UMLS:C4025529
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003886
name: Wide humerus
synonym: "Broad humerus" EXACT []
synonym: "Wide long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021715
is_a: HP:0005622 ! Broad long bones
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003887
name: Abnormal humeral head morphology
synonym: "Abnormal head of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the humeral heads" EXACT []
xref: UMLS:C4025528
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003888
name: Flattened humeral heads
synonym: "Flattended head of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C3808869
is_a: HP:0003887 ! Abnormal humeral head morphology

[Term]
id: HP:0003889
name: Abnormal deltoid tuberosity morphology
synonym: "Abnormality of the deltoid tuberosities" EXACT []
xref: UMLS:C4025527
is_a: HP:0003926 ! Abnormal humeral diaphysis morphology

[Term]
id: HP:0003890
name: Prominent deltoid tuberosities
xref: UMLS:C2674600
is_a: HP:0003889 ! Abnormal deltoid tuberosity morphology

[Term]
id: HP:0003891
name: Abnormal humeral epiphysis morphology
def: "An anomaly of the humeral epiphysis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of end part of the long bone of the upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the humeral epiphyses" EXACT []
synonym: "Abnormality of the humeral epiphysis" EXACT []
xref: UMLS:C4021714
is_a: HP:0003839 ! Abnormal upper limb epiphysis morphology
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003892
name: Absent humeral epiphyseal ossification
def: "Lack of formation of bone in the epiphysis of the humerus." [https://orcid.org/0000-0002-0736-9199]
comment: Normally, the proximal humeral epiphysis can be visualized at about 40 weeks of gestation.
synonym: "Absent maturation of end part of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent ossification of the humeral epiphyses" EXACT []
xref: UMLS:C4021713
is_a: HP:0003891 ! Abnormal humeral epiphysis morphology
is_a: HP:0012791 ! Abnormal humeral ossification

[Term]
id: HP:0003893
name: Advanced ossification of the humeral epiphysis
def: "Ossification of the humeral epiphysis at an earlier age than normal." [https://orcid.org/0000-0002-0736-9199]
synonym: "Accelerated maturation of end part of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Advanced maturation of the humeral epiphyses" RELATED []
xref: UMLS:C4020836
xref: UMLS:C4025526
is_a: HP:0003891 ! Abnormal humeral epiphysis morphology
is_a: HP:0010656 ! Abnormal epiphyseal ossification

[Term]
id: HP:0003894
name: Delayed humeral epiphyseal ossification
def: "A delay in the process of formation and maturation of the humeral epiphysis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Delayed maturation of the end part of the long bone in upper arm" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Delayed maturation/delayed ossification of the humeral epiphyses" EXACT []
xref: UMLS:C4021712
xref: UMLS:C4280543
is_a: HP:0003840 ! Delayed upper limb epiphyseal ossification
is_a: HP:0003891 ! Abnormal humeral epiphysis morphology

[Term]
id: HP:0003895
name: Flattened humeral epiphyses
synonym: "Flattened end part of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025525
is_a: HP:0003071 ! Flattened epiphysis
is_a: HP:0003891 ! Abnormal humeral epiphysis morphology

[Term]
id: HP:0003896
name: Irregular humeral epiphyses
synonym: "Irregular end part of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025524
is_a: HP:0003842 ! Irregular epiphyses of the upper limbs
is_a: HP:0003891 ! Abnormal humeral epiphysis morphology

[Term]
id: HP:0003897
name: Irregular ossification of the humeral epiphyses
synonym: "Irregular maturation of the end part of the long bone in upper arm" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025523
xref: UMLS:C4280542
is_a: HP:0003891 ! Abnormal humeral epiphysis morphology
is_a: HP:0010656 ! Abnormal epiphyseal ossification
is_a: HP:0012791 ! Abnormal humeral ossification

[Term]
id: HP:0003898
name: Large humeral epiphyses
synonym: "Large end part of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025522
is_a: HP:0003891 ! Abnormal humeral epiphysis morphology
is_a: HP:0010580 ! Enlarged epiphyses

[Term]
id: HP:0003899
name: Round humeral epiphyses
synonym: "Round end part of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025521
is_a: HP:0003843 ! Round epiphyses of the upper limbs
is_a: HP:0003891 ! Abnormal humeral epiphysis morphology

[Term]
id: HP:0003900
name: Small humeral epiphyses
synonym: "Small end part of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025520
is_a: HP:0003844 ! Small epiphyses of the upper limbs
is_a: HP:0003891 ! Abnormal humeral epiphysis morphology

[Term]
id: HP:0003901
name: Stippled calcification of the humeral epiphyses
xref: UMLS:C4025519
is_a: HP:0003891 ! Abnormal humeral epiphysis morphology

[Term]
id: HP:0003902
name: Epiphyseal stippling of the humerus
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Stippled ossification of the humeral epiphyses" EXACT []
xref: UMLS:C4021711
is_a: HP:0003897 ! Irregular ossification of the humeral epiphyses
is_a: HP:0010655 ! Epiphyseal stippling

[Term]
id: HP:0003903
name: Broad humeral epiphyses
def: "Increased width of the humeral epiphysis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Wide end part of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Wide humeral epiphyses" EXACT []
xref: UMLS:C4021710
is_a: HP:0003891 ! Abnormal humeral epiphysis morphology
is_a: HP:0003904 ! Wide epiphyses of the upper limbs

[Term]
id: HP:0003904
name: Wide epiphyses of the upper limbs
synonym: "Broad epiphyses of the upper limbs" EXACT []
synonym: "Wide end part of upper limb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021709
is_a: HP:0003839 ! Abnormal upper limb epiphysis morphology
is_a: HP:0010580 ! Enlarged epiphyses

[Term]
id: HP:0003905
name: Abnormality of the humeral epiphyseal plate
synonym: "Abnormality of arm long bone growth plate" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025518
xref: UMLS:C4280541
is_a: HP:0003891 ! Abnormal humeral epiphysis morphology

[Term]
id: HP:0003906
name: Broad humeral epiphyseal plate
def: "Increased width of the humeral epiphyseal growth plate." [https://orcid.org/0000-0002-0736-9199]
synonym: "Wide humeral epiphyseal plate" EXACT []
synonym: "Wide long bone of arm growth plate" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021708
xref: UMLS:C4280540
is_a: HP:0003846 ! Wide epiphyseal plates of the upper limbs
is_a: HP:0003905 ! Abnormality of the humeral epiphyseal plate

[Term]
id: HP:0003907
name: Abnormal humeral metaphysis morphology
synonym: "Abnormality of the humeral metaphyses" EXACT []
synonym: "Abnormality of the wide portion of the long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025517
is_a: HP:0009809 ! Abnormal upper limb metaphysis morphology
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003908
name: Corner fracture of metaphysis
def: "Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias." [PMID:15206413, PMID:20544318]
comment: A corner fracture is a subepiphyseal planer fracture through immature metaphyseal bone. The appearance of a corner, avulsion or bucket handle depends on the extent of bone failure and radiographic projection. Bone can fail in this pattern from both shearing and tensile stresses. The weakest area of bone for a given loading condition determines the injury threshold for that structure.
synonym: "Bucket handle fracture" EXACT []
synonym: "Metaphyseal corner fracture" EXACT []
xref: UMLS:C4025516
is_a: HP:0000944 ! Abnormal metaphysis morphology

[Term]
id: HP:0003909
name: Cortical subperiosteal resorption of humeral metaphyses
xref: UMLS:C4025515
is_a: HP:0003907 ! Abnormal humeral metaphysis morphology

[Term]
id: HP:0003910
name: Enlarged humeral metaphyses
synonym: "Enlarged wide portion of long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Expanded humeral metaphyses" EXACT []
xref: UMLS:C4021707
is_a: HP:0003051 ! Enlarged metaphyses
is_a: HP:0003907 ! Abnormal humeral metaphysis morphology

[Term]
id: HP:0003911
name: Flared humeral metaphysis
alt_id: HP:0003925
def: "Flaring (increase of width with a splayed appearance) of the humeral metaphysis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Flared humerus" RELATED []
synonym: "Flared wide portion of long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Wide/broad humeral metaphysis" EXACT []
xref: UMLS:C4020835
xref: UMLS:C4020912
is_a: HP:0003849 ! Flared upper limb metaphysis
is_a: HP:0003907 ! Abnormal humeral metaphysis morphology

[Term]
id: HP:0003912
name: Frayed humeral metaphyses
xref: UMLS:C4025514
is_a: HP:0003907 ! Abnormal humeral metaphysis morphology

[Term]
id: HP:0003913
name: Humeral metaphyseal irregularity
synonym: "Irregular humeral metaphyses" EXACT []
synonym: "Irregular wide portion of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021706
is_a: HP:0003850 ! Upper-limb metaphyseal irregularity
is_a: HP:0003907 ! Abnormal humeral metaphysis morphology

[Term]
id: HP:0003914
name: Irregular ossification of humeral metaphyses
synonym: "Irregular bone maturation of the wide portion of the long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025513
is_a: HP:0003907 ! Abnormal humeral metaphysis morphology
is_a: HP:0012791 ! Abnormal humeral ossification

[Term]
id: HP:0003915
name: Lytic defects of the humeral metaphysis
xref: UMLS:C4025512
is_a: HP:0003851 ! Lytic defects in metaphyses of the upper limbs
is_a: HP:0003907 ! Abnormal humeral metaphysis morphology

[Term]
id: HP:0003916
name: Normal-density transverse humeral bands
comment: Normal-density transverse bands of the humerus
xref: UMLS:C4025511
is_a: HP:0003852 ! Normal density transverse bands in metaphyses of the upper limbs
is_a: HP:0003907 ! Abnormal humeral metaphysis morphology

[Term]
id: HP:0003917
name: Pointed humeral metaphysis
synonym: "Pointed wide portion of long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025510
is_a: HP:0003907 ! Abnormal humeral metaphysis morphology

[Term]
id: HP:0003918
name: Sclerotic humeral metaphysis
synonym: "Hardening of wide portion of long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Stiffening of wide portion of long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025509
is_a: HP:0003907 ! Abnormal humeral metaphysis morphology

[Term]
id: HP:0003919
name: Sclerotic humeral metaphysis with longitudinal striations
xref: UMLS:C4025508
is_a: HP:0003918 ! Sclerotic humeral metaphysis

[Term]
id: HP:0003920
name: Sloping humeral metaphysis
synonym: "Sloping metaphysis of long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025507
is_a: HP:0003907 ! Abnormal humeral metaphysis morphology

[Term]
id: HP:0003921
name: Laterally sloping humeral metaphysis
synonym: "Laterally sloping metaphysis of long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025506
is_a: HP:0003920 ! Sloping humeral metaphysis

[Term]
id: HP:0003922
name: Spurred humeral metaphysis
synonym: "Spurred metaphysis of long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025505
is_a: HP:0003907 ! Abnormal humeral metaphysis morphology

[Term]
id: HP:0003923
name: Square humeral metaphysis
synonym: "Square metaphysis of long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025504
is_a: HP:0003907 ! Abnormal humeral metaphysis morphology

[Term]
id: HP:0003924
name: Stippled calcification of humeral metaphysis
synonym: "Speckled calcification in metaphysis of long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025503
is_a: HP:0003907 ! Abnormal humeral metaphysis morphology

[Term]
id: HP:0003926
name: Abnormal humeral diaphysis morphology
def: "An anomaly of the humeral diaphysis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of shaft of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the humeral diaphysis" EXACT []
xref: UMLS:C4025502
is_a: HP:0009808 ! Anomaly of the upper limb diaphyses
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003927
name: Cortical irregularity of humeral diaphysis
def: "An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025501
is_a: HP:0003858 ! Cortical diaphyseal irregularity of the upper limbs
is_a: HP:0003867 ! Humeral cortical irregularity
is_a: HP:0003926 ! Abnormal humeral diaphysis morphology

[Term]
id: HP:0003928
name: Cortical thickening of humeral diaphysis
xref: UMLS:C4025500
is_a: HP:0003859 ! Cortical diaphyseal thickening of the upper limbs
is_a: HP:0003926 ! Abnormal humeral diaphysis morphology

[Term]
id: HP:0003929
name: Ground glass opacity of humeral diaphysis
xref: UMLS:C4025499
is_a: HP:0003926 ! Abnormal humeral diaphysis morphology

[Term]
id: HP:0003930
name: Lytic defects of humeral diaphysis
synonym: "Humeral diaphyseal lysis" EXACT []
xref: UMLS:C4021705
is_a: HP:0003926 ! Abnormal humeral diaphysis morphology

[Term]
id: HP:0003931
name: Periosteal new bone of humeral diaphysis
xref: UMLS:C4025498
is_a: HP:0003926 ! Abnormal humeral diaphysis morphology
is_a: HP:0030314 ! Periostosis

[Term]
id: HP:0003932
name: Sclerotic foci of humeral diaphysis
xref: UMLS:C4025497
is_a: HP:0003926 ! Abnormal humeral diaphysis morphology

[Term]
id: HP:0003933
name: Sclerosis of humeral diaphysis
synonym: "Increased bone density in shaft of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025496
is_a: HP:0003860 ! Diaphyseal sclerosis of the upper limbs
is_a: HP:0003926 ! Abnormal humeral diaphysis morphology

[Term]
id: HP:0003934
name: Slender humeral diaphysis
synonym: "Slender shaft of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025495
is_a: HP:0003926 ! Abnormal humeral diaphysis morphology

[Term]
id: HP:0003935
name: Wide humeral diaphysis
def: "Increased width of the humeral diaphysis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad humeral diaphysis" EXACT []
synonym: "Broad shaft of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Wide shaft of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021704
is_a: HP:0003861 ! Broad diaphyses of the upper limbs
is_a: HP:0003926 ! Abnormal humeral diaphysis morphology

[Term]
id: HP:0003938
name: Synostosis involving the elbow
synonym: "Bone fusion involving the elbow" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025494
is_a: HP:0009811 ! Abnormality of the elbow
is_a: HP:0100238 ! Synostosis involving bones of the upper limbs

[Term]
id: HP:0003939
name: Humeroulnar synostosis
def: "An abnormal osseous union (fusion) between the ulna and the humerus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Humeral ulnar synostosis" EXACT []
xref: SNOMEDCT_US:205330003
xref: UMLS:C0431799
is_a: HP:0003938 ! Synostosis involving the elbow
is_a: HP:0100745 ! Abnormality of the humeroulnar joint

[Term]
id: HP:0003940
name: Osteoarthritis of the elbow
xref: SNOMEDCT_US:239866002
xref: UMLS:C0409954
is_a: HP:0002758 ! Osteoarthritis
is_a: HP:0009811 ! Abnormality of the elbow

[Term]
id: HP:0003941
name: Stippled calcification of the elbow
xref: UMLS:C4025493
is_a: HP:0009811 ! Abnormality of the elbow

[Term]
id: HP:0003942
name: Synovial chondromatosis of the elbow
xref: UMLS:C4025492
is_a: HP:0009811 ! Abnormality of the elbow

[Term]
id: HP:0003943
name: Abnormality of the joint spaces of the elbow
synonym: "Abnormality of the joint spaces of the elbow" EXACT layperson []
xref: UMLS:C4025491
is_a: HP:0009811 ! Abnormality of the elbow

[Term]
id: HP:0003944
name: Narrow joint spaces of the elbow
synonym: "Narrow joint spaces of the elbow" EXACT layperson []
xref: UMLS:C4025490
is_a: HP:0003943 ! Abnormality of the joint spaces of the elbow

[Term]
id: HP:0003945
name: Irregular articular surfaces of the elbow joints
xref: UMLS:C4025489
is_a: HP:0009811 ! Abnormality of the elbow

[Term]
id: HP:0003946
name: Abnormality of the epiphyses of the elbow
synonym: "Abnormality of end part of the elbow bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025488
is_a: HP:0003839 ! Abnormal upper limb epiphysis morphology
is_a: HP:0009811 ! Abnormality of the elbow

[Term]
id: HP:0003947
name: Delayed elbow epiphyseal ossification
def: "A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow." [https://orcid.org/0000-0002-0736-9199]
synonym: "Delayed maturation of the end part of the elbow bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025487
is_a: HP:0003840 ! Delayed upper limb epiphyseal ossification
is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow

[Term]
id: HP:0003948
name: Irregular epiphyses of the elbow
synonym: "Irregular end part of the elbow bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025486
is_a: HP:0003842 ! Irregular epiphyses of the upper limbs
is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow

[Term]
id: HP:0003949
name: Abnormal elbow metaphysis morphology
synonym: "Abnormal wide portion of elbow bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025485
is_a: HP:0009809 ! Abnormal upper limb metaphysis morphology
is_a: HP:0009811 ! Abnormality of the elbow

[Term]
id: HP:0003950
name: Flared elbow metaphyses
synonym: "Flared wide portion of elbow bone" EXACT layperson []
xref: UMLS:C4025484
is_a: HP:0003849 ! Flared upper limb metaphysis
is_a: HP:0003949 ! Abnormal elbow metaphysis morphology

[Term]
id: HP:0003951
name: Distal humeral metaphyseal irregularity
def: "Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular metaphyses of elbow" EXACT []
synonym: "Irregular wide portion of elbow bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021703
is_a: HP:0003913 ! Humeral metaphyseal irregularity
is_a: HP:0003949 ! Abnormal elbow metaphysis morphology

[Term]
id: HP:0003952
name: Sclerotic foci of metaphyses of the elbow
synonym: "Vertical linear mixed lucent and sclerotic pattern of metaphyses" EXACT []
xref: UMLS:C4021702
is_a: HP:0003854 ! Sclerosis of metaphyses of the upper limbs
is_a: HP:0003949 ! Abnormal elbow metaphysis morphology

[Term]
id: HP:0003953
name: Absent forearm bone
def: "Absence of one or more forearm bones associated with congenital failure of development." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent forearm bone" EXACT layperson []
synonym: "Aplasia of the forearm bones" EXACT []
xref: UMLS:C4021701
is_a: HP:0006503 ! Aplasia/hypoplasia involving forearm bones

[Term]
id: HP:0003954
name: Angulated forearm bones
synonym: "Angulated forearm bones" EXACT layperson []
xref: UMLS:C4025483
is_a: HP:0040072 ! Abnormal forearm bone morphology

[Term]
id: HP:0003955
name: Bone-in-a-bone appearance of forearm
def: "A descriptive term for a forearm bone that appears to have an additional bone within it on radiography." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bone-in-a-bone appearance of forearm" EXACT layperson []
xref: UMLS:C4025482
is_a: HP:0002973 ! Abnormal forearm morphology

[Term]
id: HP:0003956
name: Bowed forearm bones
def: "A bending or abnormal curvature affecting either the radius, the ulna, or both." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bowed forearm bones" EXACT layperson []
xref: UMLS:C4025481
is_a: HP:0006488 ! Bowing of the arm
is_a: HP:0040072 ! Abnormal forearm bone morphology

[Term]
id: HP:0003957
name: Cortical thickening of the forearm bones
xref: UMLS:C4021842
is_a: HP:0040072 ! Abnormal forearm bone morphology

[Term]
id: HP:0003958
name: Cross-fusion of the forearm bones
xref: UMLS:C4025480
is_a: HP:0040072 ! Abnormal forearm bone morphology

[Term]
id: HP:0003959
name: Deformed forearm bones
synonym: "Deformed forearm bones" EXACT layperson []
xref: UMLS:C4025479
is_a: HP:0040072 ! Abnormal forearm bone morphology

[Term]
id: HP:0003960
name: Exostoses of the forearm bones
xref: UMLS:C4025478
is_a: HP:0040072 ! Abnormal forearm bone morphology
is_a: HP:0100777 ! Exostoses

[Term]
id: HP:0003961
name: Fractured forearm bone
def: "Bone fracture in the radius, ulna, or wrist." []
synonym: "Broken forearm" EXACT []
synonym: "Fracture of the forearm" EXACT []
synonym: "Fractured forearm bones" EXACT plural_form []
xref: UMLS:C4025477
is_a: HP:0020110 ! Bone fracture
is_a: HP:0040072 ! Abnormal forearm bone morphology

[Term]
id: HP:0003963
name: Lytic defects of the forearm bones
xref: UMLS:C4025476
is_a: HP:0040072 ! Abnormal forearm bone morphology

[Term]
id: HP:0003964
name: Osteoporotic forearm bones
xref: UMLS:C4025475
is_a: HP:0040072 ! Abnormal forearm bone morphology

[Term]
id: HP:0003965
name: Pseudarthrosis of the forearm bones
xref: UMLS:C4025474
is_a: HP:0040072 ! Abnormal forearm bone morphology

[Term]
id: HP:0003966
name: Sclerotic foci in forearm bones
xref: UMLS:C4025473
is_a: HP:0040072 ! Abnormal forearm bone morphology

[Term]
id: HP:0003967
name: Sclerotic forearm bones
synonym: "Increased bone density of forearm bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025472
is_a: HP:0040072 ! Abnormal forearm bone morphology

[Term]
id: HP:0003969
name: Slender forearm bones
xref: UMLS:C4025471
is_a: HP:0040072 ! Abnormal forearm bone morphology

[Term]
id: HP:0003970
name: Undermodelled forearm bones
xref: UMLS:C4025470
is_a: HP:0040072 ! Abnormal forearm bone morphology

[Term]
id: HP:0003971
name: Broad forearm bones
def: "Abnormally wide bone of the skeleton of forearm." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad forearm bones" EXACT layperson []
synonym: "Wide forearm bones" EXACT layperson []
xref: UMLS:C4021700
is_a: HP:0040072 ! Abnormal forearm bone morphology

[Term]
id: HP:0003973
name: Wide radioulnar joints
synonym: "Broad radioulnar joints" EXACT []
xref: UMLS:C4021699
is_a: HP:0003037 ! Enlarged joints
is_a: HP:0003059 ! Abnormality of the radioulnar joints

[Term]
id: HP:0003974
name: Absent radius
alt_id: HP:0002819
alt_id: HP:0005012
def: "Missing radius bone associated with congenital failure of development." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "absence of radius and ulna" EXACT []
synonym: "Absent ossification/absence of radius" EXACT []
synonym: "Aplasia of the radius" EXACT []
synonym: "Missing outer large bone of forearm" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Radial aplasia" EXACT []
xref: UMLS:C1405984
xref: UMLS:C1838608
xref: UMLS:C1849314
is_a: HP:0003953 ! Absent forearm bone
is_a: HP:0006501 ! Aplasia/Hypoplasia of the radius
is_a: HP:0009822 ! Aplasia involving forearm bones

[Term]
id: HP:0003975
name: obsolete Chevron-shaped/cone-shaped radius
is_obsolete: true
replaced_by: HP:0004000

[Term]
id: HP:0003976
name: Constricted radius
xref: UMLS:C4025468
is_a: HP:0002818 ! Abnormal morphology of the radius
is_a: HP:0003330 ! Abnormal bone structure

[Term]
id: HP:0003977
name: Deformed radius
alt_id: HP:0005046
xref: UMLS:C4025467
is_a: HP:0002818 ! Abnormal morphology of the radius
is_a: HP:0003959 ! Deformed forearm bones

[Term]
id: HP:0003978
name: Fractured radius
xref: SNOMEDCT_US:12676007
xref: UMLS:C0034628
is_a: HP:0002818 ! Abnormal morphology of the radius
is_a: HP:0003961 ! Fractured forearm bone
is_a: HP:0025736 ! Long-bone fracture

[Term]
id: HP:0003979
name: Lytic defects of the radius
xref: UMLS:C4021841
is_a: HP:0002818 ! Abnormal morphology of the radius
is_a: HP:0003963 ! Lytic defects of the forearm bones

[Term]
id: HP:0003980
name: Pseudarthrosis of the radius
xref: UMLS:C4025466
is_a: HP:0002818 ! Abnormal morphology of the radius
is_a: HP:0003965 ! Pseudarthrosis of the forearm bones

[Term]
id: HP:0003981
name: Broad radius
def: "Increased width of the radius." [https://orcid.org/0000-0002-0736-9199]
synonym: "Wide radius" EXACT []
xref: UMLS:C4021698
is_a: HP:0002818 ! Abnormal morphology of the radius
is_a: HP:0003971 ! Broad forearm bones
is_a: HP:0005622 ! Broad long bones

[Term]
id: HP:0003982
name: Aplasia of the ulna
def: "Missing ulna bone associated with congenital failure of development." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Absent ossification/absent ulna" EXACT []
synonym: "Absent ulna" EXACT []
synonym: "Absent ulnae" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C2678397
is_a: HP:0003953 ! Absent forearm bone
is_a: HP:0006495 ! Aplasia/Hypoplasia of the ulna
is_a: HP:0009822 ! Aplasia involving forearm bones

[Term]
id: HP:0003984
name: Posteriorly dislocated ulna
xref: UMLS:C4025465
is_a: HP:0040071 ! Abnormal morphology of ulna

[Term]
id: HP:0003985
name: Exostoses of the ulna
xref: UMLS:C4025464
is_a: HP:0003960 ! Exostoses of the forearm bones
is_a: HP:0040071 ! Abnormal morphology of ulna

[Term]
id: HP:0003986
name: Exostoses of the radius
xref: UMLS:C4025463
is_a: HP:0002818 ! Abnormal morphology of the radius
is_a: HP:0003960 ! Exostoses of the forearm bones

[Term]
id: HP:0003987
name: Fractured ulna
xref: SNOMEDCT_US:54556006
xref: UMLS:C0041601
is_a: HP:0003961 ! Fractured forearm bone
is_a: HP:0025736 ! Long-bone fracture
is_a: HP:0040071 ! Abnormal morphology of ulna

[Term]
id: HP:0003988
name: Long ulna
alt_id: HP:0006435
def: "Increased length of the ulna." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Disproportionately long ulnae" EXACT []
xref: UMLS:C1848108
is_a: HP:0040071 ! Abnormal morphology of ulna

[Term]
id: HP:0003989
name: Notched ulna
xref: UMLS:C4025462
is_a: HP:0040071 ! Abnormal morphology of ulna

[Term]
id: HP:0003990
name: Pointed ulna
xref: UMLS:C4025461
is_a: HP:0040071 ! Abnormal morphology of ulna

[Term]
id: HP:0003991
name: Osteosclerosis of the ulna
def: "Osteosclerosis (increased density related to increased bone mass) of the ulna." [https://orcid.org/0000-0002-0736-9199]
synonym: "Sclerotic ulna" EXACT []
xref: UMLS:C4021697
is_a: HP:0003967 ! Sclerotic forearm bones
is_a: HP:0006392 ! Increased density of long bones
is_a: HP:0040071 ! Abnormal morphology of ulna

[Term]
id: HP:0003992
name: Slender ulna
def: "Reduction in diameter of the ulna." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1968814
is_a: HP:0003100 ! Slender long bone
is_a: HP:0003969 ! Slender forearm bones
is_a: HP:0040071 ! Abnormal morphology of ulna

[Term]
id: HP:0003993
name: Broad ulna
alt_id: HP:0200081
def: "Increased width of the ulna." [https://orcid.org/0000-0002-0736-9199]
synonym: "Wide ulna" RELATED []
xref: UMLS:C4020692
xref: UMLS:C4025460
is_a: HP:0003971 ! Broad forearm bones
is_a: HP:0005622 ! Broad long bones
is_a: HP:0040071 ! Abnormal morphology of ulna

[Term]
id: HP:0003994
name: Dislocated wrist
alt_id: HP:0004992
def: "An injury of the wrist with displacement of any of the eight carpal bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Dislocated wrist" EXACT layperson []
synonym: "Dislocations of the wrists" EXACT layperson []
xref: MEDDRA:10013184 "Dislocation of wrist"
xref: SNOMEDCT_US:125618007
xref: UMLS:C0159941
is_a: HP:0025799 ! Abnormal wrist physiology
is_a: HP:0030310 ! Upper extremity joint dislocation

[Term]
id: HP:0003995
name: Abnormality of the radial head
synonym: "Deformity of radial heads" EXACT []
xref: UMLS:C4021696
is_a: HP:0002818 ! Abnormal morphology of the radius

[Term]
id: HP:0003996
name: Flattened radial head
xref: UMLS:C4025459
is_a: HP:0003995 ! Abnormality of the radial head

[Term]
id: HP:0003997
name: Hypoplastic radial head
synonym: "Small radial head" EXACT []
xref: UMLS:C4021695
is_a: HP:0003995 ! Abnormality of the radial head

[Term]
id: HP:0003998
name: Constricted radial neck
xref: UMLS:C4025458
is_a: HP:0003999 ! Abnormality of radial epiphyses

[Term]
id: HP:0003999
name: Abnormality of radial epiphyses
alt_id: HP:0004011
synonym: "Abnormality of radial epiphyseal plates" EXACT []
xref: UMLS:C4021694
is_a: HP:0002818 ! Abnormal morphology of the radius
is_a: HP:0003839 ! Abnormal upper limb epiphysis morphology

[Term]
id: HP:0004000
name: Cone-shaped distal radial epiphysis
alt_id: HP:0003975
def: "The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance." []
comment: The phrase chevron-shaped (having the shape of a V or an inverted V) is synonymous.
synonym: "Chevron-shaped distal radial epiphysis" EXACT []
xref: UMLS:C4025457
is_a: HP:0003999 ! Abnormality of radial epiphyses
is_a: HP:0010579 ! Cone-shaped epiphysis

[Term]
id: HP:0004001
name: Medially deficient radial epiphyses
xref: UMLS:C4025456
is_a: HP:0003999 ! Abnormality of radial epiphyses

[Term]
id: HP:0004002
name: Flattened radial epiphyses
xref: UMLS:C4025455
is_a: HP:0003071 ! Flattened epiphysis
is_a: HP:0003999 ! Abnormality of radial epiphyses

[Term]
id: HP:0004003
name: Medially flattened radial epiphyses
xref: UMLS:C4025454
is_a: HP:0004002 ! Flattened radial epiphyses

[Term]
id: HP:0004004
name: Irregular radial epiphyses
xref: UMLS:C4025453
is_a: HP:0003999 ! Abnormality of radial epiphyses
is_a: HP:0010582 ! Irregular epiphyses

[Term]
id: HP:0004005
name: Large radial epiphyses
xref: UMLS:C4025452
is_a: HP:0003999 ! Abnormality of radial epiphyses
is_a: HP:0010580 ! Enlarged epiphyses

[Term]
id: HP:0004006
name: Round radial epiphyses
xref: UMLS:C4025451
is_a: HP:0003999 ! Abnormality of radial epiphyses

[Term]
id: HP:0004007
name: Sclerotic radial epiphyses
xref: UMLS:C4025450
is_a: HP:0003999 ! Abnormality of radial epiphyses

[Term]
id: HP:0004008
name: Sloping radial epiphyses
xref: UMLS:C4025449
is_a: HP:0003999 ! Abnormality of radial epiphyses

[Term]
id: HP:0004009
name: Medially sloping radial epiphyses
xref: UMLS:C4025448
is_a: HP:0004008 ! Sloping radial epiphyses

[Term]
id: HP:0004010
name: Small radial epiphyses
xref: UMLS:C4025447
is_a: HP:0003999 ! Abnormality of radial epiphyses
is_a: HP:0010585 ! Small epiphyses

[Term]
id: HP:0004012
name: Premature fusion of the radial epiphyseal plates
def: "A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone." [https://orcid.org/0009-0006-4530-3154]
comment: The epiphyseal plate (or epiphysial plate, physis, or growth plate) is a hyaline cartilage plate in the metaphysis at each end of a long bone. The plate is found in children and adolescents; in adults, who have stopped growing, the plate is replaced by an epiphyseal line. The growth plate has a very specific morphology in having a zonal arrangement. The growth plate includes a relatively inactive reserve zone at the epiphyseal end, moving distally into a proliferative and then hyper trophic zone and ending with a band of ossifying cartilage (the metaphysis).
xref: UMLS:C4025446
is_a: HP:0003999 ! Abnormality of radial epiphyses

[Term]
id: HP:0004013
name: Medially fused radial epiphyseal plates
xref: UMLS:C4025445
is_a: HP:0004012 ! Premature fusion of the radial epiphyseal plates

[Term]
id: HP:0004014
name: Broad radial epiphyseal plate
def: "Abnormal increase in width of the epiphyseal growth plate of the radius." [https://orcid.org/0000-0002-0736-9199]
synonym: "Wide radial epiphyseal plates" EXACT []
xref: UMLS:C4021693
is_a: HP:0003999 ! Abnormality of radial epiphyses

[Term]
id: HP:0004015
name: Abnormal radial metaphysis morphology
synonym: "Abnormality of radial metaphyses" EXACT []
xref: UMLS:C4025444
is_a: HP:0002818 ! Abnormal morphology of the radius
is_a: HP:0009809 ! Abnormal upper limb metaphysis morphology

[Term]
id: HP:0004016
name: Cupped radial metaphyses
xref: UMLS:C4025443
is_a: HP:0003848 ! Cupped metaphyses of the upper limbs
is_a: HP:0004015 ! Abnormal radial metaphysis morphology

[Term]
id: HP:0004017
name: Exostoses of the radial metaphysis
xref: UMLS:C4025442
is_a: HP:0003986 ! Exostoses of the radius
is_a: HP:0004015 ! Abnormal radial metaphysis morphology

[Term]
id: HP:0004018
name: Flared radial metaphysis
def: "The presence of a splayed (i.e.,flared) metaphyseal segment of the radius." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broadening of the distal radius" RELATED []
xref: UMLS:C4025441
is_a: HP:0003849 ! Flared upper limb metaphysis
is_a: HP:0004015 ! Abnormal radial metaphysis morphology

[Term]
id: HP:0004019
name: Radial metaphyseal irregularity
def: "Irregularity of the normally smooth surface of the metaphysis of the radius." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular radial metaphysis" EXACT []
xref: UMLS:C4021692
is_a: HP:0003850 ! Upper-limb metaphyseal irregularity
is_a: HP:0004015 ! Abnormal radial metaphysis morphology

[Term]
id: HP:0004020
name: Irregular ossification of the radial metaphysis
xref: UMLS:C4025440
is_a: HP:0003336 ! Abnormal enchondral ossification
is_a: HP:0004015 ! Abnormal radial metaphysis morphology

[Term]
id: HP:0004021
name: Lytic defects of radial metaphysis
xref: UMLS:C4025439
is_a: HP:0003851 ! Lytic defects in metaphyses of the upper limbs
is_a: HP:0004015 ! Abnormal radial metaphysis morphology

[Term]
id: HP:0004022
name: Sclerotic radial metaphysis with longitudinal striations
xref: UMLS:C4025438
is_a: HP:0003854 ! Sclerosis of metaphyses of the upper limbs
is_a: HP:0004015 ! Abnormal radial metaphysis morphology

[Term]
id: HP:0004023
name: Sloping radial metaphysis
xref: UMLS:C4025437
is_a: HP:0004015 ! Abnormal radial metaphysis morphology

[Term]
id: HP:0004024
name: Medially sloping radial metaphysis
xref: UMLS:C4025436
is_a: HP:0004023 ! Sloping radial metaphysis

[Term]
id: HP:0004025
name: Spurred radial metaphysis
xref: UMLS:C4025435
is_a: HP:0004015 ! Abnormal radial metaphysis morphology

[Term]
id: HP:0004026
name: Broad radial metaphysis
def: "Increase in width (breadth) of the radial metaphysis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Wide radial metaphysis" EXACT []
xref: UMLS:C4021691
is_a: HP:0003856 ! Upper limb metaphyseal widening
is_a: HP:0003981 ! Broad radius
is_a: HP:0004015 ! Abnormal radial metaphysis morphology

[Term]
id: HP:0004027
name: Abnormality of radial diaphysis
def: "An anomaly of the radial diaphysis." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025434
is_a: HP:0002818 ! Abnormal morphology of the radius
is_a: HP:0009808 ! Anomaly of the upper limb diaphyses

[Term]
id: HP:0004028
name: Spurs of radial diaphysis
xref: UMLS:C4025433
is_a: HP:0004027 ! Abnormality of radial diaphysis

[Term]
id: HP:0004029
name: Lytic defects of radial diaphysis
xref: UMLS:C4025432
is_a: HP:0004027 ! Abnormality of radial diaphysis

[Term]
id: HP:0004030
name: Patchy sclerosis of radial diaphysis
xref: UMLS:C4025431
is_a: HP:0004027 ! Abnormality of radial diaphysis

[Term]
id: HP:0004031
name: Broad radial diaphysis
def: "Increase in width of the diaphysis of radius." [https://orcid.org/0000-0002-0736-9199]
comment: Increased diameter of the shaft (diaphysis) of the radius.
synonym: "Wide radial diaphysis" EXACT []
xref: UMLS:C4021690
is_a: HP:0004027 ! Abnormality of radial diaphysis

[Term]
id: HP:0004032
name: Abnormal olecranon morphology
def: "Any structural abnormality of the olecranon, a bony eminence of the proximal ulna." []
synonym: "Abnormality of the olecranon" EXACT []
xref: UMLS:C4025430
is_a: HP:0040071 ! Abnormal morphology of ulna

[Term]
id: HP:0004033
name: Curved olecranon
xref: UMLS:C4025429
is_a: HP:0004032 ! Abnormal olecranon morphology

[Term]
id: HP:0004034
name: Irregular olecranon
xref: UMLS:C4025428
is_a: HP:0004032 ! Abnormal olecranon morphology

[Term]
id: HP:0004035
name: Abnormal ulnar styloid process morphology
synonym: "Abnormality of the styloid process of ulna" EXACT []
xref: UMLS:C4025427
is_a: HP:0004037 ! Abnormal ulnar epiphysis morphology

[Term]
id: HP:0004036
name: Long styloid process of ulna
xref: UMLS:C4025426
is_a: HP:0004035 ! Abnormal ulnar styloid process morphology

[Term]
id: HP:0004037
name: Abnormal ulnar epiphysis morphology
synonym: "Abnormality of the epiphyseal plate of the ulna" EXACT []
synonym: "Abnormality of the ulnar epiphyses" EXACT []
xref: UMLS:C4021689
is_a: HP:0003839 ! Abnormal upper limb epiphysis morphology
is_a: HP:0040071 ! Abnormal morphology of ulna

[Term]
id: HP:0004038
name: obsolete Bony spicule of ulnar epiphyseal plate
comment: obsoleted on July 11, 2019.
is_obsolete: true

[Term]
id: HP:0004039
name: Abnormal ulnar metaphysis morphology
def: "Any structural abnormality of the portion of the ulna between the epiphysis and the diaphysis." []
synonym: "Abnormality of ulnar metaphysis" EXACT []
xref: UMLS:C4025424
is_a: HP:0009809 ! Abnormal upper limb metaphysis morphology
is_a: HP:0040071 ! Abnormal morphology of ulna

[Term]
id: HP:0004040
name: Corner fragments of ulnar metaphysis
xref: UMLS:C4025423
is_a: HP:0004039 ! Abnormal ulnar metaphysis morphology

[Term]
id: HP:0004041
name: Cupped ulnar metaphysis
xref: UMLS:C4025422
is_a: HP:0004039 ! Abnormal ulnar metaphysis morphology

[Term]
id: HP:0004042
name: Ulnar metaphyseal irregularity
def: "Irregularity of the normally smooth surface of the metaphysis of the ulna." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular ulnar metaphysis" EXACT []
xref: UMLS:C4021688
is_a: HP:0003850 ! Upper-limb metaphyseal irregularity
is_a: HP:0004039 ! Abnormal ulnar metaphysis morphology

[Term]
id: HP:0004043
name: Lytic defects of ulnar metaphysis
xref: UMLS:C4025421
is_a: HP:0004039 ! Abnormal ulnar metaphysis morphology
is_a: HP:0045039 ! Osteolysis involving bones of the upper limbs

[Term]
id: HP:0004044
name: Pointed ulnar metaphysis
xref: UMLS:C4025420
is_a: HP:0004039 ! Abnormal ulnar metaphysis morphology

[Term]
id: HP:0004045
name: Sloping ulnar metaphysis
def: "A sloped configuration of the metaphysis (shaft) of the ulna." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025419
is_a: HP:0004039 ! Abnormal ulnar metaphysis morphology

[Term]
id: HP:0004046
name: Spurred ulnar metaphysis
xref: UMLS:C4025418
is_a: HP:0003855 ! Spurred metaphyses of the upper limbs
is_a: HP:0004039 ! Abnormal ulnar metaphysis morphology

[Term]
id: HP:0004047
name: Wide ulnar metaphysis
def: "Increase in width (breadth) of the ulnar metaphysis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad ulnar metaphysis" EXACT []
xref: UMLS:C4021687
is_a: HP:0003856 ! Upper limb metaphyseal widening
is_a: HP:0004039 ! Abnormal ulnar metaphysis morphology

[Term]
id: HP:0004048
name: Narrow joint spaces of wrist
xref: UMLS:C4025417
is_a: HP:0025798 ! Abnormal wrist morphology

[Term]
id: HP:0004049
name: Decreased carpal angles of wrist
xref: UMLS:C4025416
is_a: HP:0025798 ! Abnormal wrist morphology

[Term]
id: HP:0004050
name: Absent hand
def: "The total absence of the hand, with no bony elements distal to the radius or ulna." [PMID:19125433]
subset: hposlim_core
synonym: "Absent hand" EXACT layperson []
synonym: "Acheiria" EXACT []
xref: SNOMEDCT_US:371199008
xref: UMLS:C0265594
is_a: HP:0005927 ! Aplasia/hypoplasia involving bones of the hand
is_a: HP:6000918 ! Transverse terminal upper limb defect

[Term]
id: HP:0004051
name: Advanced ossification of the hand bones
def: "Ossification of hand bones at an earlier age than normal." [https://orcid.org/0000-0002-0736-9199]
synonym: "Accelerated maturation of hand bones" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Advanced maturation of the hand bones" RELATED []
xref: UMLS:C4020834
is_a: HP:0010660 ! Abnormal hand bone ossification

[Term]
id: HP:0004052
name: Delayed ossification of the hand bones
def: "Ossification of hand bones is less advanced than would be expected according to age-adjusted norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Delay maturation/delayed ossification of the hand" EXACT []
synonym: "Delayed maturation of the hand bones" RELATED layperson []
xref: UMLS:C4020833
xref: UMLS:C4021686
is_a: HP:0010660 ! Abnormal hand bone ossification

[Term]
id: HP:0004053
name: Dysharmonic maturation of the hand bones
alt_id: HP:0006204
def: "Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Disharmonic maturation of the hand bones" EXACT []
synonym: "Dysharmonic ossification of the hand bones" EXACT []
xref: UMLS:C4021685
is_a: HP:0010660 ! Abnormal hand bone ossification
is_a: HP:0200000 ! Dysharmonic skeletal maturation

[Term]
id: HP:0004054
name: Sclerosis of hand bone
alt_id: HP:0004055
def: "Osteosclerosis affecting one or more bones of the hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Generalised sclerosis of hand bones" EXACT uk_spelling []
synonym: "Generalized sclerosis of hand bones" EXACT []
synonym: "Hand bone sclerosis" EXACT []
synonym: "Increased bone density in hand bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Increased bone density in hand bones" EXACT []
xref: UMLS:C4021684
is_a: HP:0011001 ! Increased bone mineral density

[Term]
id: HP:0004057
name: Mitten deformity
def: "Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a \"mitten\" hand deformity." [https://orcid.org/0000-0002-0736-9199, PMID:20301304]
comment: Mitten deformity is also referred to as pseudosyndactyly, which should not be confused with true syndactyly (actual and complete fusion of fingers). Antenatally, pseudosyndactyly can be misinterpreted as syndactyly.
synonym: "Pseudosyndactyly" EXACT []
xref: UMLS:C1969236
is_a: HP:0005922 ! Abnormal hand morphology

[Term]
id: HP:0004058
name: Hand monodactyly
xref: UMLS:C4025415
is_a: HP:0009380 ! Finger aplasia

[Term]
id: HP:0004059
name: Radial club hand
def: "Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius. The hand is radially deviated at the distal forearm in the shape of a golf club." [https://orcid.org/0000-0002-0736-9199, PMID:28603568]
xref: UMLS:C4025414
is_a: HP:0006433 ! Radial dysplasia
is_a: HP:0009486 ! Radial deviation of the hand

[Term]
id: HP:0004060
name: Trident hand
def: "A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits." [https://orcid.org/0000-0002-0736-9199]
comment: This abnormality is often seen in patients with achondroplasia.
subset: hposlim_core
synonym: "trident abnormality" EXACT []
synonym: "trident deformity" EXACT []
xref: SNOMEDCT_US:249755001
xref: UMLS:C0426874
is_a: HP:0001167 ! Abnormal finger morphology

[Term]
id: HP:0004066
name: obsolete Laterally deviated thumb phalanges
is_obsolete: true
consider: HP:0009602

[Term]
id: HP:0004083
name: obsolete Laterally deviated terminal thumb phalanx
is_obsolete: true
consider: HP:0005895

[Term]
id: HP:0004090
name: obsolete Advanced maturation/advanced ossification of terminal thumb phalanx epiphysis
is_obsolete: true
consider: HP:0009662

[Term]
id: HP:0004095
name: Curved fingers
synonym: "Curved fingers" EXACT layperson []
xref: UMLS:C4025413
is_a: HP:0001167 ! Abnormal finger morphology
is_a: HP:0005922 ! Abnormal hand morphology

[Term]
id: HP:0004097
name: Deviation of finger
alt_id: HP:0006229
def: "Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges." [https://orcid.org/0000-0002-0736-9199]
synonym: "Atypical position of finger" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Deviated fingers" EXACT []
synonym: "Finger pointing in a different direction than usual" EXACT layperson []
xref: SNOMEDCT_US:203556007
xref: SNOMEDCT_US:26517000
xref: UMLS:C0410740
is_a: HP:0001167 ! Abnormal finger morphology
is_a: HP:0009484 ! Deviation of the hand or of fingers of the hand

[Term]
id: HP:0004099
name: Macrodactyly
def: "Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit." [PMID:19125433]
comment: There are no recognized standards for the girth of digits and this finding can vary substantially in the population. This assessment relies on the judgment of the examiner to recognize when the difference between the expected and the observed is significant. The affected digits should be specified. The definition does not mandate the component of the increased size (bone, connective tissue, etc.), but should exclude edema. The requirement that the girth is most, or all, of the digit is intended to distinguish this from broad fingertips. This should be distinguished from Broad fingers or Broad fingertips as the girth is circumferential in macrodactyly, which is not the case for broad fingers or broad fingertips, which are increased only (or predominantly) in their lateral (A/P) width.
subset: hposlim_core
synonym: "Finger overgrowth" EXACT layperson [https://orcid.org/0009-0006-4530-3154]
synonym: "Megalodactyly" EXACT []
xref: MEDDRA:10025386 "Macrodactyly"
xref: SNOMEDCT_US:48449000
xref: UMLS:C0265552
is_a: HP:0011297 ! Abnormal digit morphology

[Term]
id: HP:0004100
name: Abnormal 2nd finger morphology
def: "An anomaly of the second finger, also known as the index finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of index finger" EXACT layperson []
synonym: "Abnormality of the 2nd finger" EXACT []
xref: UMLS:C4021683
is_a: HP:0001167 ! Abnormal finger morphology

[Term]
id: HP:0004110
name: obsolete Radially deviated index finger phalanges
is_obsolete: true
consider: HP:0009542

[Term]
id: HP:0004112
name: Midline nasal groove
def: "An abnormal groove on the midline of the nose that may extend to the nasal tip." [https://orcid.org/0009-0006-4530-3154]
synonym: "Central nasal groove" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Midline nasal groove" EXACT layperson []
xref: UMLS:C4025412
is_a: HP:0004122 ! Midline defect of the nose
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-21T04:59:08Z

[Term]
id: HP:0004121
name: obsolete Radially displaced proximal index finger phalanx
is_obsolete: true
consider: HP:0009544

[Term]
id: HP:0004122
name: Midline defect of the nose
alt_id: HP:0003190
def: "This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip." [https://orcid.org/0009-0006-4530-3154]
synonym: "Central cleft of nose" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Central defect of nose" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Central nasal defect" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Midline cleft of nose" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Midline defect of the nose" EXACT layperson []
synonym: "Midline nasal defect" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025411
xref: UMLS:C4280539
is_a: HP:0005105 ! Abnormal nasal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-21T04:59:54Z

[Term]
id: HP:0004132
name: Dimple on nasal tip
def: "An abnormal indentation of the skin in the region of the nasal tip." [https://orcid.org/0009-0006-4530-3154]
synonym: "Dimple on nasal tip" EXACT layperson []
synonym: "Dimpled tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1863349
is_a: HP:0000436 ! Abnormal nasal tip morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-21T05:05:55Z

[Term]
id: HP:0004138
name: obsolete Metaphyseal abnormality of middle phalanx of the 2nd finger
is_obsolete: true
consider: HP:0009541

[Term]
id: HP:0004139
name: obsolete Flared metaphysis of middle phalanx of index finger
is_obsolete: true
consider: HP:0009569

[Term]
id: HP:0004143
name: obsolete Radially deviated terminal index finger phalanx
is_obsolete: true
consider: HP:0009542

[Term]
id: HP:0004144
name: obsolete Duplication of terminal index finger phalanx
is_obsolete: true
replaced_by: HP:0009948

[Term]
id: HP:0004150
name: Abnormal 3rd finger morphology
def: "An anomaly of the third finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the 3rd finger" EXACT []
synonym: "Abnormality of the middle finger" EXACT []
xref: UMLS:C4021682
is_a: HP:0001167 ! Abnormal finger morphology

[Term]
id: HP:0004153
name: obsolete Overgrowth of middle finger
is_obsolete: true
consider: HP:0009316

[Term]
id: HP:0004157
name: obsolete Accessory middle-finger phalanges
is_obsolete: true
replaced_by: HP:0009963

[Term]
id: HP:0004161
name: obsolete Periosteal new bone of middle finger phalanges
is_obsolete: true
consider: HP:0009316

[Term]
id: HP:0004162
name: obsolete Radially pointed middle finger phalanges
is_obsolete: true
consider: HP:0009316

[Term]
id: HP:0004168
name: obsolete Radially pointed proximal middle-finger phalanx
is_obsolete: true
consider: HP:0009316

[Term]
id: HP:0004172
name: Abnormality of the middle phalanx of the 3rd finger
synonym: "Abnormal middle finger bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4025410
is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology

[Term]
id: HP:0004174
name: obsolete Accessory middle phalanx of middle finger
is_obsolete: true
replaced_by: HP:0009963

[Term]
id: HP:0004175
name: obsolete Periosteal new bone of middle phalanx of middle-finger
is_obsolete: true
consider: HP:0004172

[Term]
id: HP:0004180
name: Short distal phalanx of the 3rd finger
alt_id: HP:0004182
def: "Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger." [https://orcid.org/0009-0006-4530-3154]
synonym: "Hypoplastic/small distal phalanx of the 3rd finger" EXACT []
synonym: "Short distal phalanx of the third finger" EXACT []
synonym: "Short outermost bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Short terminal phalanx of middle finger" EXACT []
xref: UMLS:C4021681
is_a: HP:0009421 ! Aplasia/Hypoplasia of the distal phalanx of the 3rd finger
is_a: HP:0009461 ! Short 3rd finger
is_a: HP:0009882 ! Short distal phalanx of finger

[Term]
id: HP:0004183
name: obsolete Abnormality of the epiphyses of the terminal phalanx of the middle finger
is_obsolete: true
consider: HP:0009357

[Term]
id: HP:0004184
name: obsolete Cone-shaped epiphysis of terminal phalanx of the middle finger
is_obsolete: true
consider: HP:0009423

[Term]
id: HP:0004185
name: obsolete Fused epiphysis of terminal phalanx of the middle finger
is_obsolete: true
consider: HP:0009316

[Term]
id: HP:0004186
name: obsolete Large epiphysis of terminal phalanx of the middle finger
is_obsolete: true
consider: HP:0009316

[Term]
id: HP:0004187
name: obsolete Prematurely fused epiphysis of terminal phalanx of the middle finger
is_obsolete: true
consider: HP:0009316

[Term]
id: HP:0004188
name: Abnormal 4th finger morphology
synonym: "Abnormality of the 4th finger" EXACT []
synonym: "Abnormality of the ring finger" EXACT []
xref: UMLS:C4021680
is_a: HP:0001167 ! Abnormal finger morphology

[Term]
id: HP:0004192
name: obsolete Bracket epiphyses of the 4th finger
is_obsolete: true
replaced_by: HP:0009394

[Term]
id: HP:0004193
name: obsolete Expanded phalanges of the ring finger
is_obsolete: true
consider: HP:0009172

[Term]
id: HP:0004194
name: obsolete Hypoplastic phalanges of the ring finger
is_obsolete: true
consider: HP:0009408

[Term]
id: HP:0004195
name: Osteolytic defects of the phalanges of the 4th finger
def: "Osteolytic defects of the phalanges of the 4th (ring) finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Lytic defects of the phalanges of the ring finger" RELATED []
xref: UMLS:C4020832
xref: UMLS:C4025409
is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology
is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand

[Term]
id: HP:0004196
name: obsolete Short phalanges of the ring finger
is_obsolete: true
consider: HP:0009408

[Term]
id: HP:0004197
name: Symphalangism of the 4th finger
def: "Fusion of two or more bones of the 4th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fused ring finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Symphalangism of the ring finger" EXACT []
xref: UMLS:C4021679
is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology
is_a: HP:0009700 ! Finger symphalangism
is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand

[Term]
id: HP:0004198
name: obsolete Wide/broad phalanges of the ring finger
is_obsolete: true
consider: HP:0009172

[Term]
id: HP:0004201
name: obsolete Expanded proximal phalanx of the ring finger
is_obsolete: true
replaced_by: HP:0009310

[Term]
id: HP:0004202
name: obsolete Lytic defects of the proximal phalanx of the ring finger
is_obsolete: true
replaced_by: HP:0009312

[Term]
id: HP:0004203
name: obsolete Short proximal phalanx of the ring finger
is_obsolete: true
replaced_by: HP:0009300

[Term]
id: HP:0004207
name: Abnormal 5th finger morphology
def: "An abnormality affecting one or both 5th fingers." [https://orcid.org/0009-0006-4530-3154]
synonym: "Abnormality of the 5th finger" EXACT []
synonym: "Abnormality of the little finger" EXACT layperson []
synonym: "Abnormality of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021678
is_a: HP:0001167 ! Abnormal finger morphology

[Term]
id: HP:0004209
name: Clinodactyly of the 5th finger
alt_id: HP:0001158
alt_id: HP:0001588
alt_id: HP:0004212
alt_id: HP:0006083
alt_id: HP:0006181
alt_id: HP:0009181
def: "Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger)." [https://orcid.org/0000-0002-0736-9199, PMID:16252026]
comment: Minor degrees of curvature of the small finger are so common as to be considered normal.
synonym: "Bilateral fifth digit clinodactyly" EXACT []
synonym: "Bilateral fifth finger clinodactyly" EXACT []
synonym: "Clinodactyly of fifth digit" EXACT []
synonym: "Clinodactyly of the little finger" EXACT []
synonym: "Curvature of little finger" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Curvature of pinkie finger" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Curvature of pinky finger" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Fifth finger clinodactyly" EXACT []
synonym: "Permanent curving of the pinkie finger" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1850049
xref: UMLS:C4280538
is_a: HP:0009179 ! Deviation of the 5th finger
is_a: HP:0040019 ! Finger clinodactyly

[Term]
id: HP:0004213
name: Abnormal 5th finger phalanx morphology
def: "Abnormality of the phalanges of the 5th (little) finger." [https://orcid.org/0009-0006-4530-3154]
synonym: "Abnormality of the little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the phalanges of the 5th finger" EXACT []
synonym: "Abnormality of the pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025408
is_a: HP:0004207 ! Abnormal 5th finger morphology
is_a: HP:0005918 ! Abnormal finger phalanx morphology

[Term]
id: HP:0004214
name: Curved phalanges of the 5th finger
def: "Curved phalanges of the 5th (little) finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curved little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Curved pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Curved pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025407
is_a: HP:0004095 ! Curved fingers
is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology
is_a: HP:0009770 ! Curved phalanges of the hand

[Term]
id: HP:0004216
name: Osteolytic defects of the phalanges of the 5th finger
def: "Dissolution or degeneration of bone tissue of the phalanges of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Lytic defects of the phalanges of the little finger" EXACT []
xref: UMLS:C4021677
is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology
is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand

[Term]
id: HP:0004218
name: Symphalangism of the 5th finger
def: "Fusion of two or more bones of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fifth finger symphalangism" EXACT []
synonym: "Fused little finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Fused pinkie finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Fused pinky finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Symphalagism of the little finger" EXACT []
xref: UMLS:C4021676
is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology
is_a: HP:0009700 ! Finger symphalangism
is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand

[Term]
id: HP:0004219
name: Abnormality of the middle phalanx of the 5th finger
synonym: "Abnormality of the middle bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the middle bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Abnormality of the middle bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025406
is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology

[Term]
id: HP:0004220
name: Short middle phalanx of the 5th finger
alt_id: HP:0001243
alt_id: HP:0003069
alt_id: HP:0004221
alt_id: HP:0005649
alt_id: HP:0005706
alt_id: HP:0005734
alt_id: HP:0005813
def: "Hypoplastic/small middle phalanx of the fifth finger." [https://orcid.org/0000-0002-5316-1399, PMID:18494372]
comment: Brachymesophalangia-V, a short and broad middle phalanx of the fifth digit, is the most common of all skeletal anomalies of the hand. When this feature appears alone, it is clinically known as brachydactyly type A3 (BDA3).
synonym: "5th finger middle phalangeal hypoplasia" EXACT []
synonym: "Brachymesophalangism V" EXACT []
synonym: "Brachymesophalangy V (finger)" EXACT []
synonym: "Fifth finger mid-phalanx hypoplasia" EXACT []
synonym: "Hypoplastic fifth finger middle phalanx" EXACT []
synonym: "Hypoplastic middle phalanx of the 5th finger" EXACT []
synonym: "Hypoplastic/small middle phalanx of the 5th finger" EXACT []
synonym: "Hypoplastic/small middle phalanx of the little finger" EXACT []
synonym: "Short middle bone of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Short middle bone of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Short middle bone of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Short middle phalanx of the little finger" EXACT []
synonym: "Type A3 brachydactyly" EXACT []
xref: UMLS:C1834060
is_a: HP:0005819 ! Short middle phalanx of finger
is_a: HP:0009161 ! Aplasia/Hypoplasia of the middle phalanx of the 5th finger
is_a: HP:0009237 ! Short 5th finger
is_a: HP:0009370 ! Type A brachydactyly

[Term]
id: HP:0004222
name: Cone-shaped epiphysis of the distal phalanx of the 5th finger
def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cone-shaped end part of the outermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Cone-shaped end part of the outermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Cone-shaped end part of the outermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Cone-shaped epiphysis of the distal phalanx of the little finger" EXACT []
xref: UMLS:C4021675
is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger
is_a: HP:0009384 ! Cone-shaped epiphyses of the 5th finger
is_a: HP:0010248 ! Cone-shaped epiphyses of the distal phalanges of the hand

[Term]
id: HP:0004223
name: Ivory epiphysis of the distal phalanx of the 5th finger
alt_id: HP:0004229
def: "Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased bone density of end part of the outermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Increased bone density of end part of the outermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Increased bone density of end part of the outermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Ivory epiphysis of the distal phalanx of the little finger" EXACT []
synonym: "Ivory epiphysis of the terminal phalanx of the little finger" EXACT []
xref: UMLS:C4021674
is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger
is_a: HP:0009388 ! Ivory epiphyses of the 5th finger
is_a: HP:0010252 ! Ivory epiphyses of the distal phalanges of the hand

[Term]
id: HP:0004224
name: Abnormality of the epiphysis of the middle phalanx of the 5th finger
def: "Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the end part of middle little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the end part of middle pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the end part of middle pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025405
is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger
is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger
is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand

[Term]
id: HP:0004225
name: Abnormality of the distal phalanx of the 5th finger
def: "Abnormality of the distal phalanx of the 5th (little) finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the distal phalanx of the little finger" EXACT []
synonym: "Abnormality of the outermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the outermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the outermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the terminal phalanx of the little finger" EXACT []
xref: UMLS:C4021673
is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology

[Term]
id: HP:0004226
name: Curved distal phalanx of the 5th finger
def: "Curved appearance of the distal phalanx of the 5th (little) finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curved outermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Curved outermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Curved outermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Curved terminal phalanx of the little finger" EXACT []
xref: UMLS:C4021672
is_a: HP:0004214 ! Curved phalanges of the 5th finger
is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger
is_a: HP:0009838 ! Curved distal phalanges of the hand

[Term]
id: HP:0004227
name: Short distal phalanx of the 5th finger
alt_id: HP:0006171
def: "Hypoplastic/small distal phalanx of the fifth finger." [https://orcid.org/0009-0006-4530-3154]
synonym: "Brachytelophalangism V" EXACT []
synonym: "Fifth digit distal phalangeal hypoplasia" EXACT []
synonym: "Hypoplastic/small terminal phalanx of the little finger" EXACT []
synonym: "Short distal phalanx of the fifth finger" EXACT []
synonym: "Short outermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Short outermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Short outermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1836674
is_a: HP:0009237 ! Short 5th finger
is_a: HP:0009239 ! Aplasia/Hypoplasia of the distal phalanx of the 5th finger
is_a: HP:0009882 ! Short distal phalanx of finger

[Term]
id: HP:0004230
name: Subluxation of the proximal interphalangeal joint of the little finger
def: "A partial dislocation of the proximal interphalangeal joint of the little finger." [https://orcid.org/0009-0006-4530-3154]
synonym: "Partially dislocated innermost hinge joint of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partially dislocated innermost hinge joint of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partially dislocated innermost hinge joint of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025404
is_a: HP:0004207 ! Abnormal 5th finger morphology
is_a: HP:0032153 ! Joint subluxation

[Term]
id: HP:0004231
name: Carpal bone aplasia
alt_id: HP:0005056
alt_id: HP:0006020
alt_id: HP:0006084
def: "Congenital absence of a carpal bone." [https://orcid.org/0000-0002-0736-9199]
comment: Radiographically difficult to distinguish between absent ossification of a carpal bone.
synonym: "Absent carpal bone" EXACT []
synonym: "Absent carpal bones" EXACT []
synonym: "Absent carpal ossification center" EXACT []
synonym: "Absent carpal ossification centre" EXACT uk_spelling []
synonym: "Absent wrist bone" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Aplastic carpal bone" EXACT []
synonym: "Missing wrist bone" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1836219
xref: UMLS:C4280537
is_a: HP:0006502 ! Aplasia/Hypoplasia involving the carpal bones

[Term]
id: HP:0004232
name: Accessory carpal bones
def: "The presence of more than the normal number of carpal bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Extra wrist bones" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Supernumerary carpal bones" EXACT []
xref: SNOMEDCT_US:20136007
xref: SNOMEDCT_US:9181003
xref: UMLS:C0265609
is_a: HP:0001191 ! Abnormal carpal morphology
is_a: HP:0004275 ! Duplication of hand bones

[Term]
id: HP:0004233
name: Advanced ossification of carpal bones
alt_id: HP:0006104
def: "Ossification of carpal bones at an abnormally early age." [https://orcid.org/0000-0002-0736-9199]
synonym: "Accelerated carpal bone maturation" EXACT []
synonym: "Accelerated wrist bone maturation" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Advanced carpal bone age" EXACT []
synonym: "Advanced carpal ossification" EXACT []
synonym: "Precociously ossified carpal bones" EXACT []
xref: UMLS:C1849292
xref: UMLS:C4280536
is_a: HP:0006257 ! Abnormality of carpal bone ossification

[Term]
id: HP:0004234
name: Bone-in-a-bone appearance of carpal bones
def: "The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bone-in-a-bone appearance of wrist bones" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025403
is_a: HP:0009164 ! Abnormal calcification of the carpal bones
is_a: HP:0011001 ! Increased bone mineral density

[Term]
id: HP:0004235
name: Comma-shaped carpal bones
synonym: "Comma-shaped wrist bones" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025402
is_a: HP:0006014 ! Abnormally shaped carpal bones

[Term]
id: HP:0004236
name: Irregular carpal bones
def: "Carpal bones with irregular or fragmented margins." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular wrist bones" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025401
is_a: HP:0006014 ! Abnormally shaped carpal bones

[Term]
id: HP:0004237
name: Large carpal bones
def: "Increased size of carpal bones." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Large carpals" EXACT []
synonym: "Large wrist bones" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021671
is_a: HP:0006014 ! Abnormally shaped carpal bones

[Term]
id: HP:0004238
name: Lytic defects of carpal bones
xref: UMLS:C4025400
is_a: HP:0001495 ! Carpal osteolysis

[Term]
id: HP:0004239
name: Proximally placed carpal bones
xref: UMLS:C4025399
is_a: HP:0001191 ! Abnormal carpal morphology

[Term]
id: HP:0004240
name: Sclerotic foci within carpal bones
synonym: "Hardened spots within wrist bones" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Stiffened spots within wrist bones" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025398
xref: UMLS:C4280535
is_a: HP:0004054 ! Sclerosis of hand bone
is_a: HP:0009164 ! Abnormal calcification of the carpal bones

[Term]
id: HP:0004241
name: Stippled calcification in carpal bones
alt_id: HP:0006177
def: "Point-shaped (punctate) calcifications affecting the carpal bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Punctate calcifications of carpals" EXACT []
xref: UMLS:C1844846
is_a: HP:0004054 ! Sclerosis of hand bone
is_a: HP:0009164 ! Abnormal calcification of the carpal bones

[Term]
id: HP:0004242
name: Broad carpal bones
synonym: "Wide carpal bones" EXACT []
synonym: "Wide wrist bones" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C3554618
is_a: HP:0004237 ! Large carpal bones

[Term]
id: HP:0004243
name: Abnormal scaphoid morphology
def: "Any structural anomaly of the scaphoid. The scaphoid is the largest bone of the proximal row of carpal bones. It is located on the same side as the thumb." []
synonym: "Abnormality of the scaphoid" EXACT []
xref: UMLS:C4025397
is_a: HP:0001191 ! Abnormal carpal morphology

[Term]
id: HP:0004244
name: Accessory scaphoid
def: "Variations in the development of carpal bones are uncommon, with the scaphoid bone typically forming from the fusion of the os centrale carpi and the radial chondrification center during embryogenesis. A bipartite scaphoid is a rare congenital disorder that occurs when these ossification centers fail to fuse." [PMID:39764661]
synonym: "Bipartite scaphoid" EXACT []
xref: UMLS:C4025396
is_a: HP:0004232 ! Accessory carpal bones
is_a: HP:0004243 ! Abnormal scaphoid morphology

[Term]
id: HP:0004245
name: Comma-shaped scaphoid
xref: UMLS:C4025395
is_a: HP:0004235 ! Comma-shaped carpal bones
is_a: HP:0004243 ! Abnormal scaphoid morphology

[Term]
id: HP:0004246
name: Delayed ossification of the scaphoid
def: "Formation of bone tissue of scaphoid is less than expected for age." [https://orcid.org/0009-0006-4530-3154]
synonym: "Delayed maturation of the scaphoid" EXACT []
xref: UMLS:C4021670
is_a: HP:0001216 ! Delayed ossification of carpal bones
is_a: HP:0045003 ! Abnormal ossification of the scaphoid

[Term]
id: HP:0004247
name: Small scaphoid
def: "Underdevelopment of the scaphoid." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025394
is_a: HP:0001498 ! Carpal bone hypoplasia
is_a: HP:0004243 ! Abnormal scaphoid morphology

[Term]
id: HP:0004248
name: Abnormal lunate bone morphology
def: "Any structural anomaly of the lunate bone, which is located in the proximal row of carpal bones." []
xref: UMLS:C4025393
is_a: HP:0001191 ! Abnormal carpal morphology

[Term]
id: HP:0004249
name: Accessory lunate
xref: UMLS:C4025392
is_a: HP:0004232 ! Accessory carpal bones
is_a: HP:0004248 ! Abnormal lunate bone morphology

[Term]
id: HP:0004250
name: Proximally placed lunate
xref: UMLS:C4025391
is_a: HP:0004239 ! Proximally placed carpal bones
is_a: HP:0004248 ! Abnormal lunate bone morphology

[Term]
id: HP:0004251
name: Lunate-triquetral fusion
def: "Osseous fusion of the lunate and triquetrum." [PMID:23853014]
comment: Synostosis of the carpal bones is a rare congenital condition. Lunate and triquetrum are the bones more commonly involved.
synonym: "Lunotriquetral synostosis" EXACT []
xref: UMLS:C1867930
is_a: HP:0004248 ! Abnormal lunate bone morphology

[Term]
id: HP:0004252
name: Abnormal trapezium morphology
def: "An anomaly of the trapezium, which is the carpal bone located at the base of the thumb." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025390
is_a: HP:0001191 ! Abnormal carpal morphology

[Term]
id: HP:0004253
name: Absent trapezium
synonym: "Absent trapezium bone" EXACT []
xref: UMLS:C1847190
is_a: HP:0004252 ! Abnormal trapezium morphology
is_a: HP:0006257 ! Abnormality of carpal bone ossification

[Term]
id: HP:0004254
name: Delayed ossification of the trapezium
def: "Formation of bone tissue of trapezium is less than expected for age." [https://orcid.org/0000-0002-0736-9199]
synonym: "Delayed maturation of the trapezium" EXACT []
xref: UMLS:C4021669
is_a: HP:0001216 ! Delayed ossification of carpal bones
is_a: HP:0045001 ! Abnormal ossification of the trapezium

[Term]
id: HP:0004255
name: Small trapezium
def: "Underdevelopment of the trapezium." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025389
is_a: HP:0001498 ! Carpal bone hypoplasia
is_a: HP:0004252 ! Abnormal trapezium morphology

[Term]
id: HP:0004256
name: Abnormal trapezoid bone morphology
def: "A structural anomaly of the trapezoid bone, which is the smallest bone in the distal row of carpal bones." []
synonym: "Abnormality of the trapezoid bone" EXACT []
xref: UMLS:C4025388
is_a: HP:0001191 ! Abnormal carpal morphology

[Term]
id: HP:0004257
name: Delayed ossification of the trapezoid bone
def: "Formation of bone tissue of trapezoid is less than expected for age." [https://orcid.org/0000-0002-0736-9199]
synonym: "Delayed maturation of the trapezoid bone" EXACT []
xref: UMLS:C4021668
is_a: HP:0001216 ! Delayed ossification of carpal bones
is_a: HP:0045004 ! Abnormal ossification of the trapezoid bone

[Term]
id: HP:0004258
name: Small trapezoid bone
def: "Underdevelopment of the trapezoid." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025387
is_a: HP:0001498 ! Carpal bone hypoplasia
is_a: HP:0004256 ! Abnormal trapezoid bone morphology

[Term]
id: HP:0004259
name: Abnormal hamate bone morphology
def: "A structural anomaly of the hamate bone, which is the ulnar-most bone located within the distal row of carpal bones, neighboured by the capitate bone radially." [PMID:39552736]
synonym: "Abnormality of the hamate bone" EXACT []
xref: UMLS:C4025386
is_a: HP:0001191 ! Abnormal carpal morphology

[Term]
id: HP:0004260
name: Large hamate bone
synonym: "Large unciform bone" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4025385
is_a: HP:0004237 ! Large carpal bones
is_a: HP:0004259 ! Abnormal hamate bone morphology

[Term]
id: HP:0004261
name: Wide hamate bone
synonym: "Broad hamate bone" EXACT []
synonym: "Wide unciform bone" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4021667
is_a: HP:0004242 ! Broad carpal bones
is_a: HP:0004260 ! Large hamate bone

[Term]
id: HP:0004262
name: Abnormal capitate bone morphology
def: "A structural anomaly of the capitate bone, which is the largest of the carpal bones in the human hand." [PMID:27524693]
synonym: "Abnormality of the capitate bone" EXACT []
xref: UMLS:C4025384
is_a: HP:0001191 ! Abnormal carpal morphology

[Term]
id: HP:0004263
name: Large capitate bone
xref: UMLS:C4025383
is_a: HP:0004237 ! Large carpal bones
is_a: HP:0004262 ! Abnormal capitate bone morphology

[Term]
id: HP:0004264
name: Narrow carpal joint spaces
alt_id: HP:0004265
synonym: "Decreased carpal joint angles" EXACT []
xref: UMLS:C4021666
is_a: HP:0001191 ! Abnormal carpal morphology

[Term]
id: HP:0004267
name: Narrow small joints of the hand
synonym: "Narrow small joints of the hand" EXACT layperson []
xref: UMLS:C4025382
is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand

[Term]
id: HP:0004268
name: Osteoarthritis of the small joints of the hand
xref: UMLS:C4025381
is_a: HP:0002758 ! Osteoarthritis
is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand

[Term]
id: HP:0004269
name: Subluxation of the small joints of the hand
def: "A partial dislocation of some or all of the small joints of the hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Partial dislocation of small joints of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025380
is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand
is_a: HP:0032153 ! Joint subluxation

[Term]
id: HP:0004271
name: Cortical thickening of hand bones
xref: UMLS:C4025379
is_a: HP:0005926 ! Abnormal hand cortical bone morphology
is_a: HP:0100039 ! Thickened cortex of bones

[Term]
id: HP:0004272
name: Cortical thinning of hand bones
xref: UMLS:C4025378
is_a: HP:0002753 ! Thin bony cortex
is_a: HP:0005926 ! Abnormal hand cortical bone morphology

[Term]
id: HP:0004273
name: Cupped metaphyses of hand bones
synonym: "Cupped metaphysis of hand bones" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Cupped wide portion of hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025377
is_a: HP:0005923 ! Abnormal hand metaphysis morphology

[Term]
id: HP:0004274
name: Deficient ossification of hand bones
synonym: "Deficient maturation of hand bones" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025376
xref: UMLS:C4280534
is_a: HP:0010660 ! Abnormal hand bone ossification

[Term]
id: HP:0004275
name: Duplication of hand bones
synonym: "Duplication of hand bones" EXACT layperson []
xref: UMLS:C3276746
is_a: HP:0005922 ! Abnormal hand morphology
is_a: HP:0009142 ! Duplication of bones involving the upper extremities

[Term]
id: HP:0004276
name: Exostoses of hand bones
def: "Abnormal formation of new bone on the surface of a bone of the hand." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025375
is_a: HP:0005922 ! Abnormal hand morphology
is_a: HP:0100777 ! Exostoses

[Term]
id: HP:0004277
name: Fractured hand bones
alt_id: HP:0041232
synonym: "Broken hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Fractured hand bones" EXACT layperson []
xref: SNOMEDCT_US:20511007
xref: UMLS:C0435632
is_a: HP:0005922 ! Abnormal hand morphology
is_a: HP:0020110 ! Bone fracture

[Term]
id: HP:0004278
name: Synostosis involving bones of the hand
def: "An abnormal union between bones or parts of bones of the hand." [https://orcid.org/0009-0006-4530-3154]
synonym: "Fused hand bones" RELATED layperson []
xref: UMLS:C4020831
is_a: HP:0005922 ! Abnormal hand morphology
is_a: HP:0100238 ! Synostosis involving bones of the upper limbs

[Term]
id: HP:0004279
name: Short palm
alt_id: HP:0001165
def: "Short palm." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
comment: This term refers to a developmental finding resulting in short palms. This term is reserved for individuals with shortening of all four metacarpals 2-5. Individuals with fewer than four shortened metacarpals (in a eudactylous hand, the metacarpals of F2-5) should be coded as Metacarpal, short. See the entry for Hand, small for a discussion of this finding. "Short hand" should not be used as it is a bundle of two readily separable terms, Fingers, short (which, as noted above, can itself be a bundled term) and Palm, short.
synonym: "Hypoplastic hands" RELATED []
synonym: "Short hands" RELATED layperson []
synonym: "Short palm" EXACT layperson []
synonym: "Short palms" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1843108
is_a: HP:0005927 ! Aplasia/hypoplasia involving bones of the hand
is_a: HP:0100871 ! Abnormal palm morphology

[Term]
id: HP:0004280
name: Irregular ossification of hand bones
synonym: "Irregular maturation of hand bones" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025374
is_a: HP:0010660 ! Abnormal hand bone ossification

[Term]
id: HP:0004281
name: Irregular sclerosis of hand bones
xref: UMLS:C4025373
is_a: HP:0004054 ! Sclerosis of hand bone

[Term]
id: HP:0004283
name: Narrow palm
def: "For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length." [PMID:19125433]
comment: Palm width is measured across the palm at the level of the MCPJ (radial aspect of the F2 MCPJ to the ulnar aspect of the F5 MCPJ). Norms are specified in [Hall et al., 2007]. Caution is advised for the subjective assessment as the breadth may be in the normal range with disproportionately increased length, which appears narrow. This finding may be associated with elongated/slender limbs in general, but that finding does not bear on the coding of this feature. Proximal narrowing may indicate small thenar or hypothenar eminences. This term replaces "narrow hands" as that term may leave the impression that it includes the thumb, which it does not.
synonym: "Narrow hand" EXACT []
synonym: "Narrow hands" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Narrow palm" EXACT layperson []
xref: UMLS:C1857632
is_a: HP:0100871 ! Abnormal palm morphology

[Term]
id: HP:0004284
name: Notched hand bones
synonym: "Notched hand bones" EXACT layperson []
xref: UMLS:C4025372
is_a: HP:0005922 ! Abnormal hand morphology

[Term]
id: HP:0004285
name: Overmodelled hand bones
xref: UMLS:C4025371
is_a: HP:0005922 ! Abnormal hand morphology

[Term]
id: HP:0004286
name: Patchy sclerosis of hand bones
synonym: "Uneven increase in bone density in hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025370
is_a: HP:0004281 ! Irregular sclerosis of hand bones

[Term]
id: HP:0004287
name: Pointed hand bones
synonym: "Pointed hand bones" EXACT layperson []
xref: UMLS:C4025369
is_a: HP:0005922 ! Abnormal hand morphology

[Term]
id: HP:0004288
name: Pseudoepiphyses of hand bones
xref: UMLS:C4025368
is_a: HP:0005924 ! Abnormal hand epiphysis morphology
is_a: HP:0010584 ! Pseudoepiphyses

[Term]
id: HP:0004289
name: Sclerotic foci in hand bones
xref: UMLS:C4025367
is_a: HP:0004281 ! Irregular sclerosis of hand bones

[Term]
id: HP:0004290
name: Sclerosis of hand bones with transverse striations
xref: UMLS:C4025366
is_a: HP:0004281 ! Irregular sclerosis of hand bones

[Term]
id: HP:0004291
name: Stippled calcification of hand bones
xref: UMLS:C4025365
is_a: HP:0004280 ! Irregular ossification of hand bones

[Term]
id: HP:0004292
name: Undermodelled hand bones
xref: UMLS:C4025364
is_a: HP:0005922 ! Abnormal hand morphology

[Term]
id: HP:0004293
name: Synostosis of second metacarpal-trapezoid
def: "Fusion of the second metacarpal-trapezoid." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fusion of second metacarpal-trapezoid" EXACT []
xref: UMLS:C4021665
is_a: HP:0009705 ! Synostosis involving the 2nd metacarpal
is_a: HP:0100328 ! Carpometacarpal synostosis

[Term]
id: HP:0004294
name: Subluxation of metacarpal phalangeal joints
def: "A partial dislocation affecting some or all of the metacarpophalangeal joints." [https://orcid.org/0000-0002-0736-9199]
synonym: "Partial knuckle dislocation" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Subluxation of metacarpophalangeal joints" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4025363
is_a: HP:0011911 ! Abnormal metacarpophalangeal joint morphology
is_a: HP:0032153 ! Joint subluxation

[Term]
id: HP:0004295
name: Abnormal gastric mucosa morphology
def: "An abnormality of the gastric mucous membrane." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the gastric mucosa" EXACT []
synonym: "Abnormality of the mucous membrane layer of stomach" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025362
is_a: HP:0002577 ! Abnormal stomach morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-20T11:12:00Z

[Term]
id: HP:0004296
name: Abnormal gastrointestinal vascular morphology
synonym: "Abnormality of gastrointestinal vasculature" EXACT []
synonym: "Abnormality of GI blood vessels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of GI vasculature" EXACT abbreviation []
xref: UMLS:C4025361
is_a: HP:0012718 ! Abnormal gastrointestinal tract morphology
is_a: HP:0025015 ! Abnormal vascular morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-20T11:24:00Z

[Term]
id: HP:0004297
name: Abnormality of the biliary system
def: "An abnormality of the biliary system." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C0940767
is_a: HP:0001392 ! Abnormality of the liver
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-20T11:34:00Z

[Term]
id: HP:0004298
name: Abnormality of the abdominal wall
alt_id: HP:0001462
def: "The presence of any abnormality affecting the abdominal wall." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of external features of the abdomen" EXACT []
synonym: "Abnormality of the abdominal wall" EXACT layperson []
xref: UMLS:C4021664
is_a: HP:0025031 ! Abnormality of the digestive system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-20T11:40:00Z

[Term]
id: HP:0004299
name: Hernia of the abdominal wall
def: "The presence of a hernia in the abdominal wall." [https://orcid.org/0000-0002-0736-9199]
comment: A hernia refers to a sac formed by the lining of the abdominal cavity (peritoneum). The sac can protrude through a hole or weak area in the abdominal fascia.
subset: hposlim_core
synonym: "Herniated abdominal wall" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: Fyler:4414
xref: SNOMEDCT_US:128545000
xref: UMLS:C1442978
is_a: HP:0010866 ! Abdominal wall defect
is_a: HP:0100790 ! Hernia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-20T11:42:00Z

[Term]
id: HP:0004302
name: Functional motor deficit
synonym: "Functional motor problems" EXACT []
xref: UMLS:C4025360
is_a: HP:0011804 ! Abnormal muscle physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-20T11:52:00Z

[Term]
id: HP:0004303
name: Abnormal muscle fiber morphology
alt_id: HP:0003706
alt_id: HP:0011806
def: "Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers." [https://orcid.org/0000-0002-0736-9199, PMID:22938878]
comment: Normal human muscle is composed of many individual muscle fibers bundled together by layers of connective tissue that are arranged in a nesting-doll like fashion. The inner most structure, the single muscle fiber, is covered by a thin layer of primarily reticular fibers called the endomysium. The endomysium is quite inconspicuous and muscle fibers appear to be in direct contact with each other. The finest capillaries, nerve twigs and lymphatic capillaries are found within the endomysium. Groups of muscle fibers are bound together by the thicker perimysium, forming structures called fascicles. Capillaries, nerve fibers and lymphatic vessels also track in the perimyseum. Bundles of fascicles are encased within the dense irregular connective tissue of the epimysium. These connective tissue layers provide mechanical protection for the muscle fibers and increase the tensile strength of the muscle. The layers are continuous with the tendon, which provides attachment to bone. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5 percent of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei. Each nucleus provides a segment of the cell with needed translated protein products.
synonym: "Abnormal muscle fibre morphology" EXACT uk_spelling []
synonym: "Abnormal skeletal muscle fiber morphology" EXACT []
synonym: "Abnormal skeletal muscle fibre morphology" EXACT uk_spelling []
synonym: "Abnormality of muscle fibers" EXACT []
synonym: "Abnormality of muscle fibres" EXACT uk_spelling []
xref: UMLS:C4021663
is_a: HP:0011805 ! Abnormal skeletal muscle morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-20T12:04:00Z

[Term]
id: HP:0004305
name: Involuntary movements
alt_id: HP:0007120
def: "Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face." [https://orcid.org/0000-0002-0736-9199]
synonym: "Involuntary movements" EXACT layperson []
synonym: "Involuntary muscle contractions" EXACT layperson []
xref: SNOMEDCT_US:102542000
xref: UMLS:C0235086
is_a: HP:0011442 ! Abnormal central motor function
is_a: HP:0100022 ! Abnormality of movement
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-20T12:18:00Z

[Term]
id: HP:0004306
name: Abnormal endocardium morphology
alt_id: HP:0005260
def: "An abnormality of the endocardium." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the endocardium" EXACT []
synonym: "Abnormality of the endomycoardium" EXACT []
xref: UMLS:C4021662
is_a: HP:0001627 ! Abnormal heart morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-20T01:23:00Z

[Term]
id: HP:0004307
name: Abnormal anatomic location of the heart
def: "Developmental defect characterized by an anomalous anatomic location of the heart." []
xref: UMLS:C4025359
is_a: HP:0001627 ! Abnormal heart morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-20T01:23:00Z

[Term]
id: HP:0004308
name: Ventricular arrhythmia
synonym: "Ventricular arrhythmias" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:44103008
xref: UMLS:C0085612
is_a: HP:0011675 ! Arrhythmia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-20T01:28:00Z

[Term]
id: HP:0004309
name: Ventricular preexcitation
alt_id: HP:0006676
def: "An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway." [https://orcid.org/0000-0002-0736-9199]
comment: Pre-excitation syndromes are generally caused by accelerated conduction along an accessory pathway, but in some cases there is accelerated conduction through the normal AV node.
synonym: "Pre-excitation syndrome" EXACT []
synonym: "Preexcitation" EXACT []
synonym: "Ventricular pre-excitation" EXACT []
xref: SNOMEDCT_US:195060002
xref: UMLS:C0559106
is_a: HP:0004308 ! Ventricular arrhythmia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-20T01:29:00Z

[Term]
id: HP:0004311
name: Abnormal macrophage morphology
alt_id: HP:0004310
def: "An abnormality of macrophages." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of histiocytes" EXACT []
synonym: "Abnormality of macrophages" EXACT []
xref: UMLS:C4021661
is_a: HP:0010974 ! Abnormal myeloid leukocyte morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-20T03:14:00Z

[Term]
id: HP:0004312
name: Abnormal reticulocyte morphology
def: "A reticulocyte abnormality." [https://orcid.org/0000-0002-0736-9199]
comment: Reticulocytes are immature erythrocytes that show a basophilic reticulum under vital staining.
synonym: "Abnormality of reticulocytes" EXACT []
xref: UMLS:C4025358
is_a: HP:0001877 ! Abnormal erythrocyte morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-20T03:19:00Z

[Term]
id: HP:0004313
name: Decreased circulating immunoglobulin concentration
alt_id: HP:0010703
def: "An abnormally decreased level of immunoglobulin in blood." [https://orcid.org/0000-0002-0736-9199]
comment: In humans, immunoglobulins comprise the five antibody isotypes IgA, IgD, IgE, IgG and IgM.
synonym: "Decreased antibody level in blood" EXACT []
synonym: "Decreased circulating antibody level" EXACT layperson []
synonym: "Decreased immunoglobulin level" EXACT []
synonym: "Decreased serum immunoglobulin" EXACT []
synonym: "Hypogammaglobulinemia" EXACT []
synonym: "Immunoglobulin deficiency" EXACT []
synonym: "Reduced immunoglobulin levels" EXACT []
xref: SNOMEDCT_US:119250001
xref: UMLS:C0086438
xref: UMLS:C4048270
is_a: HP:0010701 ! Abnormal circulating immunoglobulin concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-20T03:34:00Z

[Term]
id: HP:0004315
name: Decreased circulating IgG concentration
alt_id: HP:0003289
alt_id: HP:0003294
alt_id: HP:0005394
alt_id: HP:0008325
alt_id: HP:0008340
def: "An abnormally decreased level of immunoglobulin G (IgG) in blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased circulating IgG level" EXACT []
synonym: "Decreased gamma-globin expression" EXACT []
synonym: "Decreased IgG level" EXACT []
synonym: "Decreased IgG level in blood" EXACT []
synonym: "Decreased immunoglobulin G" EXACT []
synonym: "Decreased serum IgG" EXACT []
synonym: "IgG deficiency" EXACT []
synonym: "Reduced IgG levels" EXACT []
xref: SNOMEDCT_US:123785006
xref: SNOMEDCT_US:190981001
xref: UMLS:C0162539
is_a: HP:0004313 ! Decreased circulating immunoglobulin concentration
is_a: HP:0410242 ! Abnormal circulating IgG concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-20T03:43:00Z

[Term]
id: HP:0004319
name: Decreased circulating aldosterone concentration
alt_id: HP:0000355
alt_id: HP:0002924
alt_id: HP:0008184
alt_id: HP:0008190
def: "Abnormally reduced levels of aldosterone." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199]
comment: Aldosterone is a hormone that is produce by the adrenal cortex and that acts on the distal tubules and collecting ducts to favor retention of sodium excretion of potassium, and increased water retention, thereby tending to increase blood pressure. Aldosterone is sometimes called a mineralocorticoid because of its influence on sodium homeostasis.
synonym: "Decreased aldosterone" EXACT []
synonym: "Decreased aldosterone production" EXACT []
synonym: "Decreased serum aldosterone" EXACT []
synonym: "Hypoaldosteronism" EXACT []
synonym: "Low blood aldosterone level" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Mineralocorticoid insufficiency" EXACT []
xref: SNOMEDCT_US:60086000
xref: UMLS:C0020595
xref: UMLS:C0857899
xref: UMLS:C1846226
is_a: HP:0040085 ! Abnormal circulating aldosterone concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-25T10:45:00Z

[Term]
id: HP:0004320
name: Vaginal fistula
def: "The presence of a fistula of the vagina." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:45135002
xref: UMLS:C0042253
is_a: HP:0000142 ! Abnormal vagina morphology
is_a: HP:0100589 ! Urogenital fistula
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-25T12:17:00Z

[Term]
id: HP:0004321
name: Bladder fistula
def: "The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:68666001
xref: UMLS:C0005690
is_a: HP:0025487 ! Abnormal bladder morphology
is_a: HP:0100589 ! Urogenital fistula
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-25T12:32:00Z

[Term]
id: HP:0004322
name: Short stature
alt_id: HP:0001509
alt_id: HP:0003501
alt_id: HP:0003507
alt_id: HP:0003512
alt_id: HP:0003518
alt_id: HP:0003519
alt_id: HP:0008871
alt_id: HP:0008882
alt_id: HP:0008888
alt_id: HP:0008913
def: "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased body height" EXACT layperson []
synonym: "Height less than 3rd percentile" EXACT []
synonym: "Short stature" EXACT layperson []
synonym: "Small stature" EXACT layperson []
synonym: "Stature below 3rd percentile" EXACT []
xref: SNOMEDCT_US:237836003
xref: UMLS:C0349588
is_a: HP:0000002 ! Abnormality of body height
is_a: HP:0001510 ! Growth delay
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-27T03:19:00Z

[Term]
id: HP:0004323
name: Abnormality of body weight
alt_id: HP:0010718
def: "An abnormal increase or decrease of weight or an abnormal distribution of mass in the body." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of body weight" EXACT layperson []
synonym: "Abnormality of habitus" RELATED []
xref: UMLS:C0878621
xref: UMLS:C4025357
is_a: HP:0001507 ! Growth abnormality
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-27T03:21:00Z

[Term]
id: HP:0004324
name: Increased body weight
alt_id: HP:0045083
def: "Abnormally increased body weight." []
synonym: "Increased body weight" EXACT layperson []
synonym: "Weight gain" RELATED layperson []
xref: SNOMEDCT_US:161831008
xref: SNOMEDCT_US:262286000
xref: SNOMEDCT_US:8943002
xref: UMLS:C0043094
is_a: HP:0004323 ! Abnormality of body weight
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-27T03:21:00Z

[Term]
id: HP:0004325
name: Decreased body weight
alt_id: HP:0001823
alt_id: HP:0001826
def: "Abnormally low body weight." []
synonym: "Decreased body weight" EXACT layperson []
synonym: "Decreased weight" EXACT layperson []
synonym: "Low body weight" EXACT layperson []
synonym: "Low weight" EXACT layperson []
synonym: "Weight less than 3rd percentile" EXACT layperson []
xref: SNOMEDCT_US:161832001
xref: SNOMEDCT_US:248342006
xref: SNOMEDCT_US:262285001
xref: SNOMEDCT_US:89362005
xref: UMLS:C0041667
xref: UMLS:C1262477
xref: UMLS:C1844806
is_a: HP:0004323 ! Abnormality of body weight
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-27T03:22:00Z

[Term]
id: HP:0004326
name: Cachexia
def: "Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease." [https://orcid.org/0000-0002-0736-9199]
synonym: "Wasting syndrome" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:238108007
xref: SNOMEDCT_US:285384003
xref: UMLS:C0006625
is_a: HP:0001824 ! Weight loss
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-27T03:23:00Z

[Term]
id: HP:0004327
name: Abnormal vitreous humor morphology
def: "Any structural anomaly of the vitreous body." [https://orcid.org/0000-0002-0736-9199]
comment: The vitreous humor is the clear gel that fills the space between the lens and the retina.
subset: hposlim_core
synonym: "Abnormal vitreous humour morphology" EXACT uk_spelling []
xref: UMLS:C4025356
is_a: HP:0004329 ! Abnormal posterior eye segment morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-27T04:20:00Z

[Term]
id: HP:0004328
name: Abnormal anterior eye segment morphology
def: "An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens)." [https://orcid.org/0000-0002-0736-9199]
comment: The anterior segment comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens.
synonym: "Abnormal anterior segment morphology" EXACT []
synonym: "Abnormality of the anterior segment of the eye" EXACT []
synonym: "Abnormality of the anterior segment of the eyeball" EXACT []
synonym: "Abnormality of the anterior segment of the globe" EXACT []
xref: UMLS:C4025355
is_a: HP:0012372 ! Abnormal eye morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-27T04:23:00Z

[Term]
id: HP:0004329
name: Abnormal posterior eye segment morphology
comment: The posterior segment comprises the anterior hyaloid membrane and all of the optical structures behind it: the vitreous humor, retina, choroid, and optic nerve.
synonym: "Abnormal morphology of the posterior segment of the globe" EXACT []
synonym: "Abnormality of the posterior segment of the eye" EXACT []
synonym: "Abnormality of the posterior segment of the eyeball" EXACT []
synonym: "Abnormality of the posterior segment of the globe" EXACT []
xref: UMLS:C4025354
is_a: HP:0012372 ! Abnormal eye morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-27T04:25:00Z

[Term]
id: HP:0004330
name: Increased skull ossification
def: "An increase in the magnitude or amount of ossification of the skull." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Hyperossification of skull" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hyperostosis of skull" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased calcification of skull" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased Mineralization of skull" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Sclerosis of bones of skull" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Sclerosis of skull" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:17401000119104
xref: UMLS:C0020496
xref: UMLS:C4072850
xref: UMLS:C4072851
is_a: HP:0002703 ! Abnormality of skull ossification
is_a: HP:0011001 ! Increased bone mineral density
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-28T11:54:00Z

[Term]
id: HP:0004331
name: Decreased skull ossification
alt_id: HP:0003780
def: "A reduction in the magnitude or amount of ossification of the skull." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Decreased bone formation of skull" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Decreased calcification of skull" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased mineralization of skull" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deficient skull ossification" EXACT []
synonym: "Hypoossification of skull" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Ossification defect of skull" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Poorly mineralized skull" EXACT []
synonym: "Poorly ossified skull" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Poorly ossified skull bones" EXACT []
xref: SNOMEDCT_US:253980008
xref: UMLS:C0432073
xref: UMLS:C4280533
is_a: HP:0002703 ! Abnormality of skull ossification
is_a: HP:0011849 ! Abnormal bone ossification
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-28T11:54:00Z

[Term]
id: HP:0004332
name: Abnormal lymphocyte morphology
alt_id: HP:0001887
alt_id: HP:0012140
def: "An abnormality of lymphocytes." [https://orcid.org/0000-0002-0736-9199]
comment: A lymphocyte refers to a cell of the B cell, T cell, or natural killer cell lineage.
synonym: "Abnormal lymphocytes" EXACT []
synonym: "Abnormality of cells of the lymphoid lineage" EXACT []
xref: SNOMEDCT_US:250284007
xref: UMLS:C0427546
is_a: HP:0001881 ! Abnormal leukocyte morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-28T06:46:00Z

[Term]
id: HP:0004333
name: Bone-marrow foam cells
alt_id: HP:0001979
def: "The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bone marrow foam cells" EXACT []
synonym: "Large vacuolated foam cells ('NP cells') on bone marrow biopsy" EXACT []
synonym: "Large vacuolated foam cells on bone marrow biopsy" EXACT []
xref: UMLS:C1856560
is_a: HP:0003651 ! Foam cells
is_a: HP:0004311 ! Abnormal macrophage morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-28T06:48:00Z

[Term]
id: HP:0004334
name: Dermal atrophy
alt_id: HP:0000985
alt_id: HP:0001077
def: "Partial or complete wasting (atrophy) of the skin." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Atrophic skin" EXACT []
synonym: "Skin atrophy" EXACT []
synonym: "Skin degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: MEDDRA:10040799 "Skin atrophy"
xref: SNOMEDCT_US:399979006
xref: SNOMEDCT_US:400190005
xref: UMLS:C0151514
is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-04T06:24:00Z

[Term]
id: HP:0004336
name: Myelin outfoldings
alt_id: HP:0003433
alt_id: HP:0006898
alt_id: HP:0007290
def: "The presence of excessive redundant myelin in the peripheral nerve sheath." [https://orcid.org/0000-0002-0736-9199, PMID:10932274]
comment: This finding can be demonstrated by nerve biopsy (e.g., sural nerve biopsy).
synonym: "Excessive focal folding of myelin sheaths" EXACT []
synonym: "Irregular myelin foldings" EXACT []
xref: UMLS:C1843168
is_a: HP:0030173 ! Peripheral hypermyelination
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-04T06:41:00Z

[Term]
id: HP:0004337
name: Abnormality of amino acid metabolism
def: "Abnormality of an amino acid metabolic process." [https://orcid.org/0000-0002-0736-9199]
synonym: "Amino acid levels abnormal" RELATED []
xref: UMLS:C1328440
is_a: HP:0032245 ! Abnormal metabolism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-08T07:53:00Z

[Term]
id: HP:0004338
name: Abnormal circulating aromatic amino acid concentration
def: "Any deviation from the normal concentration of a aromatic amino acid in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of aromatic amino acid family metabolism" EXACT []
xref: UMLS:C4025352
is_a: HP:0033107 ! Abnormal circulating proteinogenic amino acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-08T07:55:00Z

[Term]
id: HP:0004339
name: Abnormal circulating sulfur amino acid concentration
def: "Any deviation from the normal concentration of a sulfur amino acid in the blood circulation." [HPO_CONTRIBUTOR:gcarletti]
comment: Cysteine and methionine contain a sulfur atom.
synonym: "Abnormal circulating sulphur amino acid concentration" EXACT uk_spelling []
synonym: "Abnormality of sulfur-containing amino acids" EXACT []
xref: UMLS:C4021660
is_a: HP:0033107 ! Abnormal circulating proteinogenic amino acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-08T08:01:00Z

[Term]
id: HP:0004340
name: Abnormality of vitamin B metabolism
synonym: "Abnormality of B-vitamin metabolism" EXACT []
xref: UMLS:C4021659
is_a: HP:0100508 ! Abnormality of vitamin metabolism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-08T08:08:00Z

[Term]
id: HP:0004341
name: Abnormality of vitamin B12 metabolism
synonym: "Abnormality of the vitamin B12 metabolism" EXACT []
xref: UMLS:C4021658
is_a: HP:0004340 ! Abnormality of vitamin B metabolism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-08T08:09:00Z

[Term]
id: HP:0004342
name: Abnormal galactosidase enyzme activity
def: "Abnormality of galactoside metabolism. A galactoside is a glycoside (a sugar moiety bound to some other moiety) containing galactose." [HPO_CONTRIBUTOR:gcarletti]
synonym: "Abnormality of galactoside metabolism" EXACT []
xref: UMLS:C4025351
is_a: HP:0003649 ! Abnormal glycosidase enzyme activity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-08T08:33:00Z

[Term]
id: HP:0004343
name: Abnormal glycosphingolipid metabolism
def: "An abnormality of glycosphingolipid metabolism." [https://orcid.org/0000-0002-0736-9199]
comment: Glycosphingolipids are a subtype of glycolipids containing the amino alcohol sphingosine. A glycosphingolipid is a carbohydrate-containing derivative of a sphingoid or ceramide. It is understood that the carbohydrate residue is attached by a glycosidic linkage to O-1 of the sphingoid.
synonym: "Abnormality of glycosphingolipid metabolism" EXACT []
xref: UMLS:C4025350
is_a: HP:0010969 ! Abnormality of glycolipid metabolism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-08T08:35:00Z

[Term]
id: HP:0004344
name: Abnormality of cerebrosidase metabolism
xref: UMLS:C4025349
is_a: HP:0004343 ! Abnormal glycosphingolipid metabolism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-08T08:36:00Z

[Term]
id: HP:0004345
name: Ganglioside accumulation
def: "Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease)." [https://orcid.org/0000-0002-0736-9199, PMID:21937853]
comment: A ganglioside is composed of a glycosphingolipid with one or more sialic acids linked on the sugar chain.
xref: UMLS:C4025348
is_a: HP:0004343 ! Abnormal glycosphingolipid metabolism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-11T07:50:00Z

[Term]
id: HP:0004347
name: Weakness of muscles of respiration
def: "Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025347
is_a: HP:0001324 ! Muscle weakness
is_a: HP:0002795 ! Abnormal respiratory system physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-11T08:03:00Z

[Term]
id: HP:0004348
name: Abnormality of bone mineral density
def: "This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of bone mineralisation and ossification" EXACT []
xref: UMLS:C4021657
is_a: HP:0011849 ! Abnormal bone ossification
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-11T08:10:00Z

[Term]
id: HP:0004349
name: Reduced bone mineral density
def: "A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones." [https://orcid.org/0009-0006-4530-3154]
synonym: "Decreased bone mineral density" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Decreased bone mineral density Z score" EXACT []
synonym: "Low solidness and mass of the bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C2674432
is_a: HP:0004348 ! Abnormality of bone mineral density
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-11T08:10:00Z

[Term]
id: HP:0004352
name: Abnormal circulating purine concentration
def: "Any deviation from the normal concentration of a purine in the blood circulation." []
comment: Purines are nitrogenous bases including the two nucleotide bases deoxyadenosine and deoxyguanosine.
synonym: "Abnormal circulating purine level" EXACT []
xref: UMLS:C4025346
is_a: HP:0010932 ! Abnormal circulating nucleobase concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-17T01:04:00Z

[Term]
id: HP:0004353
name: Abnormal circulating pyrimidine concentration
def: "Any deviation from the normal concentration of a pyrimidine in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025345
is_a: HP:0010932 ! Abnormal circulating nucleobase concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-17T01:05:00Z

[Term]
id: HP:0004354
name: Abnormal circulating carboxylic acid concentration
def: "Any deviation from the normal concentration of a carboxylic acid in the blood circulation." [HPO_CONTRIBUTOR:gcarletti]
comment: Carboxylic acid refers to an organic compound that contains a carboxyl group (-COOH).
xref: UMLS:C4025344
is_a: HP:0430071 ! Abnormal circulating organic compound concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-17T01:11:00Z

[Term]
id: HP:0004355
name: obsolete Abnormality of proteoglycan metabolism
is_obsolete: true
replaced_by: HP:0001939
creation_date: 2008-03-17T01:12:00Z

[Term]
id: HP:0004356
name: Abnormality of lysosomal metabolism
comment: A major lysosomal function is the breakdown and recycling of macromolecules and organelles into basic precursors.
xref: UMLS:C4025342
is_a: HP:0011017 ! Abnormal cellular physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-17T02:40:00Z

[Term]
id: HP:0004357
name: Abnormal circulating leucine concentration
def: "Any deviation from the normal circulation of leucine in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025341
is_a: HP:0010892 ! Abnormal circulating branched chain amino acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-17T03:02:00Z

[Term]
id: HP:0004358
name: Abnormality of superoxide metabolism
comment: NADPH oxidase catalyzes the production of superoxide, which in turn can react to form hydrogen peroxide, HOCl, and hydroxyl radical. Together, these oxygen-derived species participate in bacterial killing.
xref: UMLS:C4025340
is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-17T03:22:00Z

[Term]
id: HP:0004359
name: Abnormal circulating fatty-acid concentration
def: "A deviation from the normal concentration of a fatty acid in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
comment: A fatty acid is an aliphatic monocarboxylic acid derived from or contained in esterified form. Natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated. R-COOH. Fatty acids are usually derived from triglycerides or phospholipids.
synonym: "Abnormality of fatty acid metabolism" EXACT []
synonym: "Fatty acids abnormal" RELATED []
xref: UMLS:C4020830
xref: UMLS:C4021656
is_a: HP:0003119 ! Abnormal circulating lipid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-17T03:28:00Z

[Term]
id: HP:0004360
name: Abnormality of acid-base homeostasis
def: "An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH." [https://orcid.org/0000-0002-0736-9199]
synonym: "Acid base imbalance" RELATED []
xref: UMLS:C0001118
is_a: HP:0012337 ! Abnormal homeostasis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-17T03:35:00Z

[Term]
id: HP:0004361
name: Abnormal circulating leptin concentration
def: "An abnormal concentration of leptin in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of circulating leptin level" EXACT []
xref: UMLS:C4025339
is_a: HP:0003117 ! Abnormal circulating hormone concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-17T03:37:00Z

[Term]
id: HP:0004362
name: Abnormal enteric ganglion morphology
alt_id: HP:0002596
alt_id: HP:0003283
def: "An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of enteric ganglion morphology" EXACT []
synonym: "Abnormality of the enteric ganglia" RELATED []
xref: UMLS:C4025338
is_a: HP:0025028 ! Abnormal enteric nervous system morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-17T03:40:00Z

[Term]
id: HP:0004363
name: Abnormal circulating calcium concentration
alt_id: HP:0040077
def: "Any deviation from the normal concentration of calcium in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal blood calcium concentration" EXACT [https://orcid.org/0000-0001-7941-2961]
synonym: "Abnormal blood calcium levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormal circulating Ca concentration" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961]
synonym: "Abnormal circulating Ca2+ concentration" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961]
is_a: HP:0010927 ! Abnormal blood inorganic cation concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-17T04:15:00Z

[Term]
id: HP:0004364
name: Abnormal circulating nitrogen compound concentration
def: "Any deviation from the normal concentration of a nitrogen compound in the blood circulation." [HPO_CONTRIBUTOR:gcarletti]
comment: Ammonia (NH3), one of the most clinically important nitrogen compounds in human metabolism, is a substance containing nitrogen resulting from the catabolism of protein. It is converted to the less toxic substance urea prior to excretion in urine.
xref: UMLS:C4025336
is_a: HP:0430071 ! Abnormal circulating organic compound concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-17T04:51:00Z

[Term]
id: HP:0004365
name: Abnormal circulating tryptophan concentration
def: "Any deviation from the normal concentration of tryptophan in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of tryptophan metabolism" EXACT []
xref: UMLS:C4025335
is_a: HP:0004338 ! Abnormal circulating aromatic amino acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-17T04:55:00Z

[Term]
id: HP:0004366
name: obsolete Abnormality of glycolysis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
is_obsolete: true
replaced_by: HP:0011013
creation_date: 2008-03-17T05:00:00Z

[Term]
id: HP:0004367
name: obsolete Abnormality of glycoprotein metabolism
is_obsolete: true
replaced_by: HP:0001939

[Term]
id: HP:0004368
name: Increased circulating purine concentration
def: "Abnormally elevated concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring." []
synonym: "Increased purine level" EXACT []
synonym: "Increased purine levels" EXACT layperson []
xref: UMLS:C4025332
is_a: HP:0004352 ! Abnormal circulating purine concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T06:31:00Z

[Term]
id: HP:0004369
name: Decreased circulating purine concentration
def: "Abnormally reduced concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring." []
synonym: "Decreased purine level" EXACT []
synonym: "Decreased purine levels" EXACT layperson []
xref: UMLS:C4025331
is_a: HP:0004352 ! Abnormal circulating purine concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T06:32:00Z

[Term]
id: HP:0004370
name: Abnormality of temperature regulation
def: "An abnormality of temperature homeostasis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of temperature regulation" EXACT layperson []
synonym: "Body temperature changes" RELATED layperson []
synonym: "Impaired temperature control" EXACT []
synonym: "Impaired temperature regulation" EXACT []
synonym: "Inability to control temperature" EXACT []
synonym: "Inability to regulate temperature" EXACT []
synonym: "Poor control of temperature" EXACT []
synonym: "Poor regulation of temperature" EXACT []
synonym: "Poor temperature control" EXACT []
synonym: "Poor temperature regulation" EXACT layperson []
synonym: "Unable to control temperature" EXACT []
xref: UMLS:C0005904
xref: UMLS:C1832160
is_a: HP:0012337 ! Abnormal homeostasis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T06:34:00Z

[Term]
id: HP:0004371
name: Abnormality of glycosaminoglycan metabolism
def: "Abnormality of glycosaminoglycan metabolism." [https://orcid.org/0000-0002-0736-9199]
comment: A glycosaminoglycan is any polysaccharide containing a substantial proportion of aminomonosaccharide residues. Glycosaminoglycan (GAG) are long unbranched polysaccharides consisting of a repeating disaccharide unit. Among the most common GAGs are chondroitin sulfate, dermatan sulfate, chondroitin sulfate, keratan sulfate, heparan sulfate, and hyaluronan.
xref: UMLS:C4025330
is_a: HP:0011017 ! Abnormal cellular physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T06:36:00Z

[Term]
id: HP:0004372
name: Reduced consciousness
def: "Abnormally diminished level of attention, responsiveness, or wakefulness." []
synonym: "Disturbances of consciousness" EXACT layperson []
synonym: "Lowered consciousness" EXACT layperson []
synonym: "Reduced consciousness/confusion" EXACT layperson []
xref: SNOMEDCT_US:3006004
xref: UMLS:C0234428
is_a: HP:0011446 ! Abnormality of mental function
property_value: terms:contributor https://orcid.org/0000-0001-6262-8264
property_value: terms:contributor https://orcid.org/0000-0001-9446-5121
property_value: terms:contributor https://orcid.org/0000-0002-1592-0825
property_value: terms:contributor https://orcid.org/0000-0002-4672-4923
property_value: terms:contributor https://orcid.org/0000-0002-5554-6946
property_value: terms:contributor https://orcid.org/0000-0002-7367-663X
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T07:12:00Z

[Term]
id: HP:0004373
name: Focal dystonia
alt_id: HP:0007140
def: "A type of dystonia that is localized to a specific part of the body." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:445006008
xref: UMLS:C0743332
is_a: HP:0001332 ! Dystonia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T07:33:00Z

[Term]
id: HP:0004374
name: Hemiplegia/hemiparesis
def: "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength." [https://orcid.org/0000-0002-0736-9199]
synonym: "Paralysis or weakness of one side of body" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C0375206
is_a: HP:0010549 ! Weakness due to upper motor neuron dysfunction
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T07:35:00Z

[Term]
id: HP:0004375
name: Neoplasm of the nervous system
def: "A tumor (abnormal growth of tissue) of the nervous system." [https://orcid.org/0000-0002-0736-9199]
synonym: "Neoplasia of the nervous system" RELATED []
synonym: "Nervous system cancer" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Tumor of the nervous system" EXACT layperson [https://orcid.org/0009-0006-4530-3154]
synonym: "Tumour of the nervous system" EXACT uk_spelling []
xref: NCIT:C3262
xref: SNOMEDCT_US:126950007
xref: UMLS:C0027766
is_a: HP:0011793 ! Neoplasm by anatomical site
is_a: HP:0012639 ! Abnormal nervous system morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T07:38:00Z

[Term]
id: HP:0004376
name: Neuroblastic tumor
def: "A family of tumors arising in the embryonal remnants of the sympathetic nervous system, which includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma." [PMID:27823645]
comment: Along with neuroblastomas, ganglioneuromas and ganglioneuroblastomas are collectively known as neuroblastic tumors.
synonym: "Neuroblastic tumour" EXACT uk_spelling []
xref: UMLS:C1334953
is_a: HP:0100836 ! Malignant neoplasm of the central nervous system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T07:39:00Z

[Term]
id: HP:0004377
name: Hematological neoplasm
def: "Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue)." [http://www.ncbi.nlm.nih.gov/mesh?term=Hematologic%20Neoplasms]
synonym: "Blood tumor" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Blood tumour" BROAD uk_spelling []
synonym: "Haematological neoplasm" EXACT uk_spelling []
xref: SNOMEDCT_US:129154003
xref: SNOMEDCT_US:269475001
xref: UMLS:C0376545
is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues
is_a: HP:0011793 ! Neoplasm by anatomical site
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T07:44:00Z

[Term]
id: HP:0004378
name: Abnormality of the anus
def: "Abnormality of the anal canal." [https://orcid.org/0000-0002-0736-9199]
comment: The anal canal is continuous proximally with the rectum and distally terminates with the anus.
synonym: "Abnormality of the anus" EXACT layperson []
xref: UMLS:C4025329
is_a: HP:0025031 ! Abnormality of the digestive system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T08:11:00Z

[Term]
id: HP:0004379
name: Abnormality of alkaline phosphatase level
def: "An abnormality of alkaline phosphatase level." [https://orcid.org/0000-0002-0736-9199]
comment: Note that the alkaline phosphatase family has four isoenzymes in humans, each of which additionally can have different isoforms. The primary clinical importance of measuring alkaline phosphatase is to check the possibility of bone disease or liver disease.
synonym: "Abnormality of alkaline phosphatase activity" EXACT []
synonym: "Abnormality of ALP level" EXACT abbreviation []
synonym: "Alkaline phosphatase abnormal" RELATED []
xref: UMLS:C4020829
xref: UMLS:C4025328
is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T08:13:00Z

[Term]
id: HP:0004380
name: Aortic valve calcification
alt_id: HP:0004759
alt_id: HP:0005173
def: "Deposition of calcium salts in the aortic valve." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:250978003
xref: UMLS:C0428791
is_a: HP:0001646 ! Abnormal aortic valve morphology
is_a: HP:0005146 ! Cardiac valve calcification
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T08:52:00Z

[Term]
id: HP:0004381
name: Supravalvular aortic stenosis
def: "A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow." [https://orcid.org/0000-0002-0736-9199]
xref: Fyler:1430
xref: SNOMEDCT_US:268185002
xref: UMLS:C0003499
is_a: HP:0031652 ! Abnormal aortic valve physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T08:54:00Z

[Term]
id: HP:0004382
name: Mitral valve calcification
alt_id: HP:0005149
alt_id: HP:0200129
def: "Abnormal calcification of the mitral valve." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:473372009
xref: UMLS:C0919718
is_a: HP:0001633 ! Abnormal mitral valve morphology
is_a: HP:0005146 ! Cardiac valve calcification
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T08:55:00Z

[Term]
id: HP:0004383
name: Hypoplastic left heart
def: "Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta." [https://orcid.org/0000-0002-0736-9199, PMID:22192721]
comment: Hypoplastic left heart syndrome is an unsatisfactory term describing lethal underdevelopment of the left ventricle (LV). It represents the more severe end of a spectrum of LV hypoplasia, mandating single-ventricle palliation or cardiac transplantation. Less severe borderline ventricular hypoplasia may instead allow various biventricular therapeutic strategies and better long-term outcomes.
synonym: "Heart left ventricle hypoplasia" EXACT []
synonym: "Left ventricular hypoplasia" EXACT []
synonym: "Underdeveloped left heart" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:62067003
xref: UMLS:C0152101
is_a: HP:0001961 ! Hypoplastic heart
is_a: HP:0045017 ! Congenital malformation of the left heart
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T08:56:00Z

[Term]
id: HP:0004384
name: Type I truncus arteriosus
def: "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
comment: According to the Van Praagh classification (PMID:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect.
synonym: "Persistent truncus arteriosus type I" EXACT []
synonym: "Type 1 truncus arteriosus" EXACT []
xref: Fyler:0510
xref: Fyler:510
xref: UMLS:C1834934
is_a: HP:0001660 ! Truncus arteriosus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T08:57:00Z

[Term]
id: HP:0004385
name: Protracted diarrhea
synonym: "Protracted diarrhoea" EXACT uk_spelling []
xref: SNOMEDCT_US:236077008
xref: UMLS:C0473133
is_a: HP:0002014 ! Diarrhea
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:00:00Z

[Term]
id: HP:0004386
name: Gastrointestinal inflammation
def: "Inflammation of the alimentary part of the gastrointestinal system." []
synonym: "Gastrointestinal inflammation" EXACT layperson []
synonym: "GI inflammation" EXACT abbreviation []
xref: UMLS:C1535950
is_a: HP:0012649 ! Increased inflammatory response
is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:01:00Z

[Term]
id: HP:0004387
name: Enterocolitis
def: "An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine)." [https://orcid.org/0009-0006-4530-3154]
xref: SNOMEDCT_US:43752006
xref: UMLS:C0014356
is_a: HP:0002583 ! Colitis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:02:00Z

[Term]
id: HP:0004388
name: Microcolon
def: "A colon of abnormally small caliber." [PMID:3484569]
synonym: "Microcolon on contrast enema" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:18389004
xref: UMLS:C0266200
xref: UMLS:C3553395
is_a: HP:0100811 ! Aplasia/Hypoplasia of the colon
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:02:00Z

[Term]
id: HP:0004389
name: Intestinal pseudo-obstruction
def: "A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded." [https://orcid.org/0000-0002-0736-9199]
synonym: "Intestinal pseudoobstruction" EXACT []
xref: SNOMEDCT_US:235825006
xref: SNOMEDCT_US:715201005
xref: UMLS:C0021847
is_a: HP:0002242 ! Abnormal intestine morphology
is_a: HP:0002579 ! Gastrointestinal dysmotility
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:03:00Z

[Term]
id: HP:0004390
name: Hamartomatous polyposis
def: "Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture." [https://orcid.org/0009-0006-4530-3154, PMID:17768394]
comment: Patients with Cowden-Syndrom for example often have multiple hamartomatous gastrointestinal polyps.
synonym: "Gastrointestinal hamartoma" EXACT []
synonym: "Gastrointestinal hamartomatous polyps" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Hamartomatous polyps" EXACT []
xref: SNOMEDCT_US:27391005
xref: UMLS:C0334092
xref: UMLS:C3277418
is_a: HP:0005266 ! Intestinal polyp
is_a: HP:0010566 ! Hamartoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:04:00Z

[Term]
id: HP:0004392
name: Prune belly
def: "A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants." [https://orcid.org/0000-0002-0736-9199]
comment: Wrinkly folds of skin covering the abdomen as a result of partial or complete lack of abdominal muscles.
synonym: "Prune belly" EXACT layperson []
xref: SNOMEDCT_US:5187006
xref: UMLS:C0033770
is_a: HP:0004298 ! Abnormality of the abdominal wall
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:08:00Z

[Term]
id: HP:0004394
name: Multiple gastric polyps
xref: SNOMEDCT_US:78809005
xref: SNOMEDCT_US:87252009
xref: UMLS:C0236048
is_a: HP:0006753 ! Neoplasm of the stomach
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:11:00Z

[Term]
id: HP:0004395
name: Malnutrition
def: "A deficiency in the intake of energy and nutrients." []
synonym: "Malnutrition" EXACT layperson []
xref: SNOMEDCT_US:248325000
xref: SNOMEDCT_US:2492009
xref: SNOMEDCT_US:47563007
xref: SNOMEDCT_US:65404009
xref: SNOMEDCT_US:70241007
xref: UMLS:C0162429
is_a: HP:0011458 ! Abdominal symptom
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:12:00Z

[Term]
id: HP:0004396
name: Poor appetite
def: "A reduced desire to eat." []
synonym: "Decreased appetite" EXACT layperson []
synonym: "Loss of appetite" EXACT []
synonym: "No appetite" RELATED layperson []
synonym: "Poor appetite" EXACT layperson []
xref: SNOMEDCT_US:64379006
xref: UMLS:C0232462
is_a: HP:0011458 ! Abdominal symptom
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:12:00Z

[Term]
id: HP:0004397
name: Ectopic anus
def: "Abnormal displacement or malposition of the anus." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormal anus position" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Anus malposition" EXACT []
xref: SNOMEDCT_US:5153001
xref: UMLS:C0266231
is_a: HP:0034915 ! Abnormal anus morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:13:00Z

[Term]
id: HP:0004398
name: Peptic ulcer
def: "The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers." [https://orcid.org/0000-0002-0736-9199, PMID:28242110]
comment: Symptoms of peptic ulcer disease have limited predictive value because they are non-specific. Patients with duodenal ulcers typically feel hungry or have nocturnal abdominal pain. By contrast, patients with gastric ulcers have postprandial abdominal pain, nausea, vomiting, and weight loss. Patients with untreated peptic ulcer disease typically have relapsing symptoms because of spontaneous healing and relapse while the causal factor (eg, H pylori infection or NSAID use) persists.
synonym: "Sore in the lining of gastrointestinal tract" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:13200003
xref: UMLS:C0030920
is_a: HP:0034274 ! Gastrointestinal ulcer
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:14:00Z

[Term]
id: HP:0004399
name: Congenital pyloric atresia
def: "Congenital atresia of the pylorus." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
xref: UMLS:C4025327
is_a: HP:0004400 ! Abnormality of the pylorus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:15:00Z

[Term]
id: HP:0004400
name: Abnormality of the pylorus
def: "An abnormality of the pylorus." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025326
is_a: HP:0002577 ! Abnormal stomach morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:15:00Z

[Term]
id: HP:0004401
name: Meconium ileus
alt_id: HP:0002610
alt_id: HP:0004402
def: "Obstruction of the intestine due to abnormally thick meconium." [https://orcid.org/0000-0002-0736-9199]
comment: Obstruction of the intestine is known as ileus.
synonym: "Distal intestinal obstruction syndrome" RELATED []
synonym: "Meconium ileus in neonates" EXACT []
synonym: "Meconium ileus on ultrasonography" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:206523001
xref: SNOMEDCT_US:233662009
xref: SNOMEDCT_US:86092005
xref: UMLS:C0398349
xref: UMLS:C2939175
xref: UMLS:C3553397
is_a: HP:0010676 ! Mechanical ileus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:16:00Z

[Term]
id: HP:0004403
name: Proximal esophageal atresia
xref: UMLS:C4025325
is_a: HP:0002032 ! Esophageal atresia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:17:00Z

[Term]
id: HP:0004404
name: Abnormal nipple morphology
def: "An abnormality of the nipple." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the nipple" EXACT layperson []
xref: SNOMEDCT_US:700153004
xref: UMLS:C3839073
is_a: HP:0031093 ! Abnormal breast morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:18:00Z

[Term]
id: HP:0004405
name: Prominent nipples
subset: hposlim_core
synonym: "Prominent nipples" EXACT layperson []
xref: UMLS:C1855513
is_a: HP:0004404 ! Abnormal nipple morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:19:00Z

[Term]
id: HP:0004406
name: Spontaneous, recurrent epistaxis
alt_id: HP:0003684
synonym: "Recurrent epistaxes" EXACT []
synonym: "Recurrent epistaxis" EXACT []
synonym: "Recurring nosebleed" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Spontaneous, recurrent nosebleed" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C3809715
is_a: HP:0000421 ! Epistaxis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:20:00Z

[Term]
id: HP:0004407
name: Bony paranasal bossing
xref: UMLS:C1857499
is_a: HP:0012812 ! Fullness of paranasal tissue
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:20:00Z

[Term]
id: HP:0004408
name: Abnormality of the sense of smell
alt_id: HP:0004410
def: "An anomaly in the ability to perceive and distinguish scents (odors)." []
subset: hposlim_core
synonym: "Abnormal sense of smell" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Abnormality of olfaction" EXACT []
synonym: "Abnormality of the sense of smell" EXACT layperson []
synonym: "Smell defect" EXACT layperson []
xref: UMLS:C4021655
is_a: HP:0000366 ! Abnormality of the nose
is_a: HP:0012638 ! Abnormal nervous system physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:21:00Z

[Term]
id: HP:0004409
name: Hyposmia
def: "A decreased sensitivity to odorants (that is, a decreased ability to perceive odors)." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Decreased smell sensation" EXACT []
synonym: "Sense of smell impaired" EXACT []
xref: SNOMEDCT_US:83156004
xref: UMLS:C2364082
is_a: HP:0004408 ! Abnormality of the sense of smell
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:21:00Z

[Term]
id: HP:0004411
name: Deviated nasal septum
def: "Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Crooked nasal septum" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Crooked septum of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deviated nasal septum" EXACT layperson []
synonym: "Deviated septum of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:126660000
xref: UMLS:C0549397
is_a: HP:0000419 ! Abnormal nasal septum morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:23:00Z

[Term]
id: HP:0004414
name: Abnormality of the pulmonary artery
def: "An abnormality of the pulmonary artery." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of lung artery" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:128588008
xref: SNOMEDCT_US:198914002
xref: SNOMEDCT_US:36110001
xref: UMLS:C0009681
is_a: HP:0004930 ! Abnormality of the pulmonary vasculature
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:28:00Z

[Term]
id: HP:0004415
name: Pulmonary artery stenosis
def: "An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [https://orcid.org/0000-0002-0736-9199, PMID:30587259]
comment: Stenosis, or narrowing, of the branches of the pulmonary artery is a type of congenital heart disease that, if left untreated, may lead to significant complications. Ideally, interventions to treat stenosis occur before significant complications or long-term sequelae take place, often within the first 2 years of life.
synonym: "Narrowing of lung artery" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: Fyler:1622
xref: SNOMEDCT_US:95441000
xref: UMLS:C0238397
is_a: HP:0030966 ! Abnormal pulmonary artery morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:28:00Z

[Term]
id: HP:0004416
name: Precocious atherosclerosis
synonym: "Premature atherosclerosis" EXACT []
synonym: "Premature plaque build-up in arteries" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021654
xref: UMLS:C4280264
is_a: HP:0002621 ! Atherosclerosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:28:00Z

[Term]
id: HP:0004417
name: Intermittent claudication
def: "Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still." [PMID:27770207]
comment: Vascular intermittent claudication caused by peripheral arterial disease most often related to severe atherosclerosis.
xref: SNOMEDCT_US:63491006
xref: UMLS:C0021775
is_a: HP:0025323 ! Abnormal arterial physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:29:00Z

[Term]
id: HP:0004418
name: Thrombophlebitis
def: "Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein)." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:64156001
xref: UMLS:C0040046
is_a: HP:0004936 ! Venous thrombosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:30:00Z

[Term]
id: HP:0004419
name: Recurrent thrombophlebitis
def: "Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Recurrent phlebitis" EXACT []
synonym: "Recurrent thrombosis" EXACT []
xref: UMLS:C3550150
is_a: HP:0004418 ! Thrombophlebitis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:31:00Z

[Term]
id: HP:0004420
name: Arterial thrombosis
def: "The formation of a blood clot inside an artery." [https://orcid.org/0000-0002-0736-9199]
synonym: "Blood clot in artery" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:65198009
xref: UMLS:C0151942
is_a: HP:0001977 ! Abnormal thrombosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:32:00Z

[Term]
id: HP:0004421
name: Elevated systolic blood pressure
alt_id: HP:0004956
def: "Abnormal increase in systolic blood pressure." [https://orcid.org/0000-0002-0736-9199]
comment: Normal systolic blood pressure is less than 120 mmHg in adults.
synonym: "Elevated systolic BP" EXACT abbreviation []
xref: UMLS:C1840374
is_a: HP:0032263 ! Increased blood pressure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:33:00Z

[Term]
id: HP:0004422
name: Biparietal narrowing
def: "A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased width of the skull" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1854418
xref: UMLS:C4280532
is_a: HP:0002683 ! Abnormal calvaria morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:35:00Z

[Term]
id: HP:0004423
name: Cranium bifidum occultum
def: "Cranium bifidum occultum, also known as Catlin mark, is a congenital midline skull defect presenting as an enlarged posterior fontanelle in the upper posterior angle of the parietal bone close to the intersection of the sagittal and lambdoid sutures. Cranium bifidum occultum occurs due to a defect in intramembranous ossification, a process through which skull bones (frontal, parietal, squamous temporal and occipital bones superior to the mendosal suture) ossify under a vascularized membrane toward the midline to cover the brain. Unlike cranium bifidum cysticum, cranium bifidum occultum does not have herniation of intracranial contents. As the skull grows, the midline cranium bifidum occultum defect is separated into bilateral enlarged parietal foramina (EPF) by a midline osseous bridge." [PMID:28522383]
comment: Cranium bifidum tends to resolve into distinct enlarged parietal foramina over the first few years of life through the midline ossification of a central bridge of bone bisecting the defect.
xref: SNOMEDCT_US:718099006
xref: UMLS:C1868598
is_a: HP:0002084 ! Encephalocele
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:37:00Z

[Term]
id: HP:0004425
name: Flat forehead
alt_id: HP:0004659
def: "A forehead with abnormal flatness." [https://orcid.org/0000-0002-0736-9199]
synonym: "Flat forehead" EXACT layperson []
synonym: "Flattened forehead" EXACT layperson []
synonym: "Frontal flattening" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1857485
is_a: HP:0000290 ! Abnormal forehead morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:41:00Z

[Term]
id: HP:0004426
name: Abnormal cheek morphology
def: "An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. \"Buccal\" means relating to the cheek. The cheek is part of the midface" []
synonym: "Abnormality of the cheek" EXACT layperson []
synonym: "Abnormality of the cheeks" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Anomaly of the cheeks" NARROW layperson []
synonym: "Deformity of the cheeks" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the cheeks" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025324
is_a: HP:0000309 ! Abnormal midface morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:42:00Z

[Term]
id: HP:0004428
name: Elfin facies
def: "This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Elf-like facial appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Elf-like facial features" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Leprechaun facies" RELATED [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:69288002
xref: UMLS:C0332606
is_a: HP:0001999 ! Abnormal facial shape
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:43:00Z

[Term]
id: HP:0004429
name: Recurrent viral infections
alt_id: HP:0005364
def: "Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1837066
is_a: HP:0002719 ! Recurrent infections
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:45:00Z

[Term]
id: HP:0004430
name: Severe combined immunodeficiency
def: "A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems." [https://orcid.org/0000-0002-0736-9199]
synonym: "Immunodeficiency, severe combined" EXACT []
xref: SNOMEDCT_US:31323000
xref: UMLS:C0085110
is_a: HP:0005387 ! Combined immunodeficiency
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:46:00Z

[Term]
id: HP:0004431
name: Reduced circulating complement concentration
def: "An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins." [PMID:24161035]
synonym: "Complement deficiency" EXACT []
xref: SNOMEDCT_US:24743004
xref: UMLS:C0272242
is_a: HP:0005339 ! Abnormality of complement system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:51:00Z

[Term]
id: HP:0004432
name: Agammaglobulinemia
alt_id: HP:0008328
def: "A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured." [https://orcid.org/0000-0002-0736-9199]
synonym: "Agammaglobulinaemia" EXACT []
xref: SNOMEDCT_US:119249001
xref: UMLS:C0001768
is_a: HP:0004313 ! Decreased circulating immunoglobulin concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:47:00Z

[Term]
id: HP:0004433
name: Secretory IgA deficiency
def: "Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens." [https://orcid.org/0000-0002-0736-9199, PMID:2251975]
xref: SNOMEDCT_US:234554004
xref: UMLS:C0398709
is_a: HP:0041078 ! Decreased immunoglobulin level in body fluid
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:48:00Z

[Term]
id: HP:0004434
name: Decreased circulating complement C8 concentration
def: "Concentration of the complement component C8 in the blood circulation below the lower limit of normal." [PMID:8098723]
comment: The eighth component of complement (C8) plays an important role in the function of membrane attack complex (MAC) that is generated on target cells upon activation of the complement system. MAC is generated by sequential addition of C5b, C6, C7, C8, and C9 molecules, which results in the transmembrane pore and eventual cell lysis. Individuals with C8 deficiency tend to have recurrent neisserial infections.
synonym: "C8 deficiency" EXACT []
synonym: "Decreased serum complement C8" EXACT []
xref: UMLS:C3151082
is_a: HP:0033057 ! Decreased circulating terminal complement component concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:53:00Z

[Term]
id: HP:0004437
name: Cranial hyperostosis
alt_id: HP:0002698
def: "Excessive growth of the bones of cranium, i.e., of the skull." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlargement of skull bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Excessive growth of skull bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Hyperostosis of cranial bones" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hyperostosis of cranial vault" EXACT []
synonym: "Hypertrophy of cranial bones" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased ossification of cranial bones" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Overgrowth of skull bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thick skull bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1832451
xref: UMLS:C4280528
xref: UMLS:C4280529
xref: UMLS:C4280530
xref: UMLS:C4280531
is_a: HP:0002683 ! Abnormal calvaria morphology
is_a: HP:0100774 ! Hyperostosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:57:00Z

[Term]
id: HP:0004438
name: Hyperostosis frontalis interna
def: "Bony overgrowth of the internal (endosteal) surface of the frontal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlargement of the inner surface of the frontal bone" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Excessive growth of inner surface of the frontal bone" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hyperostosis of the internal surface of the frontal bone" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypertrophy of the internal surface of the frontal bone" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased ossification of the internal surface of the frontal bone" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Overgrowth of the inner surface of the frontal bone" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Overgrowth of the inside of the frontal bone" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Thick inner surface of the frontal bone" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thick internal surface of the frontal bone" BROAD [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:82054006
xref: UMLS:C0020494
xref: UMLS:C4280524
xref: UMLS:C4280525
xref: UMLS:C4280526
xref: UMLS:C4280527
is_a: HP:0004437 ! Cranial hyperostosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:57:00Z

[Term]
id: HP:0004439
name: Craniofacial dysostosis
def: "A characteristic appearance resulting from defective ossification of craniofacial bones." [https://orcid.org/0000-0002-0736-9199]
comment: Note: This term is used in the medical literature to describe an appearance of the face of patients with Crouzon syndrome (also called craniofacial dysostosis), which is characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla. This is thus probably mainly used as a bundled term and should be replaced by better descriptions in the future.
synonym: "Crouzon syndrome" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:28861008
xref: UMLS:C0010273
is_a: HP:0000271 ! Abnormality of the face
is_a: HP:0000929 ! Abnormal skull morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:58:00Z

[Term]
id: HP:0004440
name: Coronal craniosynostosis
alt_id: HP:0002675
alt_id: HP:0002685
alt_id: HP:0002739
alt_id: HP:0004441
def: "Premature closure of the coronal suture of skull." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Coronal suture craniosynostosis" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Coronal suture synostosis" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Craniosynostosis of coronal suture" EXACT []
xref: UMLS:C1856266
is_a: HP:0001363 ! Craniosynostosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T09:59:00Z

[Term]
id: HP:0004442
name: Sagittal craniosynostosis
def: "A kind of craniosynostosis affecting the sagittal suture." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Craniosynostosis, sagittal" EXACT []
synonym: "Craniosynostosis, sagittal suture" EXACT []
synonym: "Early closure of midline skull joint" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Midline skull joint closes early" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Sagittal suture synostosis" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:109418001
xref: UMLS:C0432123
is_a: HP:0001363 ! Craniosynostosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T10:01:00Z

[Term]
id: HP:0004443
name: Lambdoidal craniosynostosis
alt_id: HP:0004486
def: "A kind of craniosynostosis affecting the lambdoidal suture." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Lambdoid suture craniosynostosis" EXACT []
synonym: "Lambdoid suture synostosis" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:109417006
xref: UMLS:C1833340
is_a: HP:0001363 ! Craniosynostosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T10:01:00Z

[Term]
id: HP:0004444
name: Spherocytosis
alt_id: HP:0004816
def: "The presence of erythrocytes that are sphere-shaped." [https://orcid.org/0000-0002-0736-9199]
comment: Erythrocytes are normally biconcave rather than spherical.
xref: SNOMEDCT_US:17235000
xref: UMLS:C0553720
is_a: HP:0004447 ! Poikilocytosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T10:05:00Z

[Term]
id: HP:0004445
name: Elliptocytosis
alt_id: HP:0004837
def: "The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear." [https://orcid.org/0000-0002-0736-9199, PMID:16304353, PMID:21250106]
comment: Elliptocytes (ovalocytes) are abnormal erythrocytes ranging from slightly oval to elongated cigar-shaped forms.
synonym: "Elliptocyte" RELATED []
synonym: "Hereditary elliptocytosis" RELATED []
synonym: "Ovalocytes" EXACT []
synonym: "Ovalocytosis" EXACT [https://en.wikipedia.org/wiki/hereditary_elliptocytosis, https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:178935009
xref: SNOMEDCT_US:191169008
xref: SNOMEDCT_US:250242004
xref: UMLS:C0013902
xref: UMLS:C0427480
is_a: HP:0004447 ! Poikilocytosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T10:05:00Z

[Term]
id: HP:0004446
name: Stomatocytosis
alt_id: HP:0004801
def: "The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear." [https://orcid.org/0000-0002-0736-9199, PMID:16304353]
synonym: "erythrocyte stomatocytes" EXACT []
synonym: "Red cell stomatocytosis" EXACT []
xref: UMLS:C0677598
is_a: HP:0004447 ! Poikilocytosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T10:05:00Z

[Term]
id: HP:0004447
name: Poikilocytosis
def: "The presence of abnormally shaped erythrocytes." [https://orcid.org/0000-0002-0736-9199]
comment: General description for abnormally shaped erythrocytes.
xref: SNOMEDCT_US:165479004
xref: UMLS:C0221281
is_a: HP:0001877 ! Abnormal erythrocyte morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T10:06:00Z

[Term]
id: HP:0004448
name: Fulminant hepatic failure
def: "Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:197270009
xref: SNOMEDCT_US:235884008
xref: UMLS:C0162557
is_a: HP:0006554 ! Acute hepatic failure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-18T10:09:00Z

[Term]
id: HP:0004450
name: Preauricular skin furrow
def: "A groove of the skin immediately in front of the ear." [https://orcid.org/0000-0002-0736-9199]
synonym: "Preauricular skin furrows" EXACT []
synonym: "Preauricular skin groove" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Preauricular skin sulcus" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Skin groove in front of the ear" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Skin sulcus in front of the ear" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1852411
is_a: HP:0000383 ! Abnormal periauricular region morphology

[Term]
id: HP:0004451
name: Postauricular skin tag
def: "A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Postauricular acrochordon" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Postauricular fibroepithelial polyp" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Skin tag behind the ear" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025323
is_a: HP:0000383 ! Abnormal periauricular region morphology

[Term]
id: HP:0004452
name: Abnormality of the middle ear ossicles
alt_id: HP:0001759
def: "An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea)." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Malformed ossicles" EXACT []
synonym: "Ossicular malformation" EXACT []
xref: UMLS:C1836678
is_a: HP:0008609 ! Abnormal middle ear morphology

[Term]
id: HP:0004453
name: Overfolding of the superior helices
def: "A condition in which the superior portion of the helix is folded over to a greater degree than normal." [https://orcid.org/0000-0002-0736-9199]
synonym: "Overfolding of superior helix" EXACT []
xref: UMLS:C1865304
is_a: HP:0000396 ! Overfolded helix

[Term]
id: HP:0004454
name: Abnormal middle ear reflexes
xref: UMLS:C1970887
is_a: HP:0011452 ! Functional abnormality of the middle ear

[Term]
id: HP:0004458
name: Dilatated internal auditory canal
def: "The presence of a dilated inner part of external acoustic meatus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bulbous internal auditory canal" EXACT []
synonym: "Enlarged internal auditory canal" EXACT []
xref: UMLS:C2676973
is_a: HP:0011384 ! Abnormality of the internal auditory canal

[Term]
id: HP:0004459
name: Exostosis of the external auditory canal
def: "A benign bony growth projecting outward from a bone surface within the external auditory canal." [https://orcid.org/0000-0002-0736-9199]
synonym: "External auditory canal exostoses" EXACT []
xref: SNOMEDCT_US:19560007
xref: UMLS:C0155411
is_a: HP:0000372 ! Abnormal auditory canal morphology
is_a: HP:0040095 ! Neoplasm of the outer ear
is_a: HP:0100777 ! Exostoses

[Term]
id: HP:0004461
name: Congenital earlobe sinuses
def: "Pits in the earlobes at the location where ears are typically pierced for earrings." [PMID:6958333]
xref: UMLS:C1969394
is_a: HP:0000363 ! Abnormal earlobe morphology

[Term]
id: HP:0004463
name: Absent brainstem auditory responses
def: "Lack of measurable response to stimulation of auditory evoked potentials." [https://orcid.org/0000-0002-0736-9199]
synonym: "No auditory brainstem response" EXACT []
xref: UMLS:C1836742
is_a: HP:0006958 ! Abnormal auditory evoked potentials

[Term]
id: HP:0004464
name: Postauricular pit
def: "Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit." [https://orcid.org/0009-0006-4530-3154]
subset: hposlim_core
synonym: "Pit behind the ear" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Postauricular earpits" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Postauricular fistula" EXACT []
synonym: "Posterior auricular pit" EXACT []
synonym: "Posterior auricular sinus" EXACT []
xref: SNOMEDCT_US:43887004
xref: UMLS:C0395905
is_a: HP:0100277 ! Periauricular skin pits

[Term]
id: HP:0004466
name: Delayed brainstem auditory evoked response conduction time
def: "An abnormal increase (delay) in the conduction time of the brainstem auditory-evoked response." []
xref: UMLS:C4025322
is_a: HP:0006958 ! Abnormal auditory evoked potentials

[Term]
id: HP:0004467
name: Preauricular pit
alt_id: HP:0000392
alt_id: HP:0004460
alt_id: HP:0005118
alt_id: HP:0008552
alt_id: HP:0008578
def: "Small indentation anterior to the insertion of the ear." [https://orcid.org/0009-0006-4530-3154, PMID:19152421]
comment: Preauricular cysts and sinuses are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral and are localized anterior to the tragus of the ear. The preauricular sinus is a benign congenital lesion of the preauricular soft tissue consisting of a blind-ending narrow tube or pit. It is also known as preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. It can be asymptomatic or present as an infected and discharging sinus. It presents as a small pit adjacent to the external ear usually located at the anterior margin of the ascending limb of the helix. The preauricular sinus is variably also termed a preauricular pit, preauricular fistula, preauricular tract and preauricular cyst.
synonym: "Ear pit" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Pit in front of the ear" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Preauricular earpits" EXACT []
synonym: "Preauricular fistulas" EXACT []
synonym: "Preauricular pits" EXACT []
synonym: "Preauricular sinus" EXACT []
xref: SNOMEDCT_US:1955003
xref: SNOMEDCT_US:204271000
xref: SNOMEDCT_US:204272007
xref: UMLS:C0266610
xref: UMLS:C0266625
xref: UMLS:C0546969
is_a: HP:0100277 ! Periauricular skin pits

[Term]
id: HP:0004468
name: Anomalous tracheal cartilage
def: "An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue)." []
synonym: "Abnormal tracheal cartilaginous ring" EXACT []
xref: UMLS:C1863406
is_a: HP:0002778 ! Abnormal tracheal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0004469
name: Chronic bronchitis
def: "Chronic inflammation of the bronchi." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:63480004
xref: UMLS:C0008677
is_a: HP:0012387 ! Bronchitis

[Term]
id: HP:0004470
name: Atretic occipital cephalocele
def: "A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1836600
is_a: HP:0011815 ! Cephalocele

[Term]
id: HP:0004471
name: Aplasia cutis congenita over the scalp vertex
def: "A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent cutis congenita of vertex" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Aplasia cutis congenita of vertex" EXACT []
xref: UMLS:C1970112
is_a: HP:0007385 ! Aplasia cutis congenita of scalp

[Term]
id: HP:0004472
name: Mandibular hyperostosis
def: "Hyperostosis (bony overgrowth) of the mandible." [https://orcid.org/0000-0002-0736-9199]
comment: This bundled term will be made obsolete in future versions of the HPO.
synonym: "Excessive growth of mandibular bone" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Hyperostosis of lower jaw" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hyperostosis of mandibular bone" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased ossification of lower jaw" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased ossification of mandible" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased ossification of mandibular bone" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Overgrowth of mandibular bone" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Thick lower jaw bone" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thick mandibular bone" BROAD [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025321
xref: UMLS:C4280521
xref: UMLS:C4280522
xref: UMLS:C4280523
is_a: HP:0005465 ! Facial hyperostosis

[Term]
id: HP:0004474
name: Persistent open anterior fontanelle
alt_id: HP:0004475
alt_id: HP:0004483
def: "The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age." [https://orcid.org/0000-0002-0736-9199]
synonym: "Anterior fontanelle open in adults" RELATED []
synonym: "Front fontanelle stays open" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Persistent, open anterior fontanel" EXACT []
xref: UMLS:C1849537
is_a: HP:0001476 ! Delayed closure of the anterior fontanelle

[Term]
id: HP:0004476
name: Aplasia cutis congenita over parietal area
def: "A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent cutis congenita over parietal area" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1863492
is_a: HP:0007385 ! Aplasia cutis congenita of scalp

[Term]
id: HP:0004478
name: obsolete Ethmoidal encephalocele
is_obsolete: true
replaced_by: HP:0007330

[Term]
id: HP:0004481
name: Progressive macrocephaly
alt_id: HP:0000261
def: "The progressive development of an abnormally large skull." [https://orcid.org/0000-0002-0736-9199]
synonym: "Macrocephaly, progressive" EXACT []
synonym: "Progressively abnormally enlarging cranium" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Progressively abnormally enlarging skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1859896
is_a: HP:0000256 ! Macrocephaly

[Term]
id: HP:0004482
name: Relative macrocephaly
alt_id: HP:0000257
alt_id: HP:0001364
def: "A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account." [https://orcid.org/0000-0002-0736-9199]
synonym: "Disproportionately large head" EXACT []
synonym: "Macrocephaly, relative" EXACT []
synonym: "Relatively large head" EXACT layperson []
xref: SNOMEDCT_US:3961000119101
xref: UMLS:C1849075
is_a: HP:0000256 ! Macrocephaly

[Term]
id: HP:0004484
name: Craniofacial asymmetry
def: "Asymmetry of the bones of the skull and the face." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of craniofacial shape" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of craniofacial shape" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Uneven craniofacial structures" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025320
is_a: HP:0000267 ! Cranial asymmetry
is_a: HP:0000324 ! Facial asymmetry
is_a: HP:0011821 ! Abnormal facial skeleton morphology

[Term]
id: HP:0004485
name: Cessation of head growth
def: "Stagnation of head growth seen as flattening of the head circumference curve." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cranium stopped growing" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Head stopped growing" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Skull stopped growing" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025319
is_a: HP:0005484 ! Secondary microcephaly

[Term]
id: HP:0004487
name: Acrobrachycephaly
def: "An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:711039004
xref: UMLS:C1863395
is_a: HP:0000248 ! Brachycephaly

[Term]
id: HP:0004488
name: Macrocephaly at birth
def: "The presence of an abnormally large skull with onset at birth." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Big cranium present at birth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Big cranium present since birth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Big head present at birth" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Big head present since birth" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Big skull present at birth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Big skull present since birth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Congenital large cranium" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Congenital large head" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Congenital large skull" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Congenital macrocephaly" EXACT []
synonym: "Head circumference large for gestational age" EXACT []
synonym: "Large cranium present at birth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Large cranium present since birth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Large head present at birth" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Large head present since birth" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Large skull present at birth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Large skull present since birth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1836599
is_a: HP:0000256 ! Macrocephaly

[Term]
id: HP:0004490
name: Calvarial hyperostosis
def: "Excessive growth of the calvaria." [https://orcid.org/0000-0002-0736-9199]
comment: The calvaria (skull cap) is made up of the frontal, occipital, right and left parietal, right and left temporal, sphenoid, and ethmoid bones, and thus comprises the upper dome-like part of the skull and does not include the lower jaw.
synonym: "Enlargement of calvarial bones" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Excessive growth of calvarial bones" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Hyperostosis of calvarial bones" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypertrophy of calvarial bones" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased ossification of calvarial bones" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Overgrowth of calvarial bones" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Overgrowth of skullcap" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thick calvarial bones" BROAD [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1863351
xref: UMLS:C4280519
xref: UMLS:C4280520
is_a: HP:0004437 ! Cranial hyperostosis

[Term]
id: HP:0004491
name: Large posterior fontanelle
def: "An enlargement of the posterior fontanelle relative to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Large posterior fontanel" EXACT []
xref: UMLS:C1855233
is_a: HP:0000239 ! Large fontanelles

[Term]
id: HP:0004492
name: Widely patent fontanelles and sutures
alt_id: HP:0002646
alt_id: HP:0005492
def: "An abnormally increased width of the cranial fontanelles and sutures." [https://orcid.org/0000-0002-0736-9199]
comment: This term indicates that both the fontanelles and the sutures are widely patent and thus represents a severe form of delay in closure of the fontanelles/sutures.
synonym: "Widely patent fontanels and sutures" EXACT []
xref: UMLS:C1849300
is_a: HP:0000239 ! Large fontanelles
is_a: HP:0010537 ! Wide cranial sutures

[Term]
id: HP:0004493
name: Craniofacial hyperostosis
def: "Excessive growth of the craniofacial bones." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Enlargement of craniofacial bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Excessive bone growth of the skull and face" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Excessive growth of craniofacial bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Hyperostosis of craniofacial bones" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypertrophy of craniofacial bones" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased ossification of craniofacial bones" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Overgrowth of craniofacial bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thick craniofacial bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1868085
xref: UMLS:C4280516
xref: UMLS:C4280517
xref: UMLS:C4280518
is_a: HP:0000271 ! Abnormality of the face
is_a: HP:0004437 ! Cranial hyperostosis
is_a: HP:0011821 ! Abnormal facial skeleton morphology

[Term]
id: HP:0004495
name: obsolete Thin anteverted nares
is_obsolete: true
replaced_by: HP:0000463

[Term]
id: HP:0004496
name: obsolete Posterior choanal atresia
is_obsolete: true
replaced_by: HP:0000453

[Term]
id: HP:0004499
name: Chronic rhinitis due to narrow nasal airway
synonym: "Chronic nasal inflammation due to narrow nasal airway" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025318
is_a: HP:0002257 ! Chronic rhinitis

[Term]
id: HP:0004502
name: Bilateral choanal atresia
def: "Bilateral absence (atresia) of the posterior nasal aperture (choana)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bilateral blockage of the rear opening of the nasal cavity" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Bilateral obstruction of the rear opening of the nasal cavity" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025317
is_a: HP:0000453 ! Choanal atresia

[Term]
id: HP:0004510
name: Pancreatic islet-cell hyperplasia
alt_id: HP:0001736
alt_id: HP:0006275
def: "Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells." [https://orcid.org/0000-0002-0736-9199]
comment: The islets of Langerhans contain the alpha cells (producing glucagon), beta cells (insulin and amylin), delta cells (somatostatin),PP cells (pancreatic polypeptide), and the epsilon cells (ghrelin).
synonym: "Hyperplastic islets of langerhans" EXACT []
synonym: "Hypertrophic pancreatic islets" EXACT []
synonym: "Islet of Langerhans hyperplasia" EXACT []
synonym: "Islets of langerhans hypertrophy" EXACT []
synonym: "Pancreatic islet-cell hypertrophy" EXACT []
xref: UMLS:C0597167
is_a: HP:0006476 ! Abnormality of the pancreatic islet cells

[Term]
id: HP:0004523
name: Long eyebrows
def: "Increased length of the hairs of the eyebrows." [https://orcid.org/0000-0002-0736-9199]
synonym: "Elongated eyebrow" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased horizontal length of eyebrow" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased transverse length of eyebrow" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Long eyebrows" EXACT layperson []
xref: UMLS:C3280131
is_a: HP:0000534 ! Abnormal eyebrow morphology

[Term]
id: HP:0004524
name: Temporal hypotrichosis
def: "Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Reduced hair growth in temporal region" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025316
is_a: HP:0011361 ! Congenital abnormal hair pattern

[Term]
id: HP:0004527
name: Large clumps of pigment irregularly distributed along hair shaft
synonym: "Large clumps of pigment irregularly distributed along hair shaft" EXACT layperson []
xref: UMLS:C4025315
is_a: HP:0002220 ! Melanin pigment aggregation in hair shafts

[Term]
id: HP:0004528
name: Generalized hypotrichosis
alt_id: HP:0004513
def: "Reduced or lacking hair growth in a generalized distribution." [https://orcid.org/0000-0002-0736-9199]
synonym: "Generalised hypotrichosis" EXACT uk_spelling []
synonym: "Hypotrichosis, generalised" EXACT uk_spelling []
synonym: "Hypotrichosis, generalized" EXACT []
xref: UMLS:C4021653
is_a: HP:0008070 ! Sparse hair

[Term]
id: HP:0004529
name: Atrophic, patchy alopecia
xref: UMLS:C4025314
is_a: HP:0002232 ! Patchy alopecia

[Term]
id: HP:0004532
name: Sacral hypertrichosis
def: "Excessive, increased hair growth located in the sacral region." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025313
is_a: HP:0000998 ! Hypertrichosis

[Term]
id: HP:0004535
name: Anterior cervical hypertrichosis
alt_id: HP:0004517
alt_id: HP:0004773
def: "Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence." [https://orcid.org/0000-0002-0736-9199, PMID:20400390]
synonym: "Congenital cervical hypertrichosis" EXACT []
synonym: "Hypertrichosis, congenital anterior cervical" EXACT []
xref: UMLS:C1838123
is_a: HP:0000998 ! Hypertrichosis

[Term]
id: HP:0004540
name: Congenital, generalized hypertrichosis
alt_id: HP:0004547
alt_id: HP:0004769
def: "A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth." [https://orcid.org/0000-0002-0736-9199]
comment: Hypertrichosis refers to excessive, abnormal hairiness.
synonym: "Congenital generalised hypertrichosis" EXACT uk_spelling []
synonym: "Congenital generalized hypertrichosis" EXACT []
synonym: "Congenital, generalised hypertrichosis" EXACT uk_spelling []
synonym: "Hypertrichosis universalis" EXACT []
xref: UMLS:C1855900
is_a: HP:0000998 ! Hypertrichosis

[Term]
id: HP:0004544
name: obsolete Pointed frontal hairline
is_obsolete: true
replaced_by: HP:0000349

[Term]
id: HP:0004552
name: Scarring alopecia of scalp
synonym: "Cicatricial alopecia" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hair loss on scalp from scarring condition" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C3806301
is_a: HP:0000987 ! Atypical scarring of skin
is_a: HP:0002293 ! Alopecia of scalp

[Term]
id: HP:0004554
name: Generalized hypertrichosis
alt_id: HP:0004543
alt_id: HP:0004766
def: "Generalized excessive, abnormal hairiness." [https://orcid.org/0000-0002-0736-9199]
synonym: "Generalised hypertrichosis" EXACT uk_spelling []
xref: UMLS:C3277940
is_a: HP:0000998 ! Hypertrichosis

[Term]
id: HP:0004557
name: Anterior vertebral fusion
xref: UMLS:C1969393
is_a: HP:0002948 ! Vertebral fusion

[Term]
id: HP:0004558
name: Cervical platyspondyly
alt_id: HP:0005641
def: "A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Flattened cervical vertebral bodies" EXACT []
xref: UMLS:C1856641
is_a: HP:0000926 ! Platyspondyly
is_a: HP:0046508 ! Abnormal cervical spine morphology

[Term]
id: HP:0004562
name: Beaking of vertebral bodies T12-L3
xref: UMLS:C1854941
is_a: HP:0004568 ! Beaking of vertebral bodies

[Term]
id: HP:0004563
name: Increased spinal bone density
def: "Increased bone density affecting the bones of the spine (vertebral column)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Compact spinal bone" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Concrete spinal bone" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Dense spinal bone" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Eburnation of spinal bone" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased density of spinal bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased spinal bone density Z-score" RELATED []
synonym: "Ivory spinal bone" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Sclerosis of spinal bone" RELATED [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4020828
xref: UMLS:C4280254
xref: UMLS:C4280513
xref: UMLS:C4280514
xref: UMLS:C4280515
is_a: HP:0004330 ! Increased skull ossification

[Term]
id: HP:0004565
name: Severe platyspondyly
alt_id: HP:0004564
synonym: "platyspondyly, extreme" EXACT []
xref: UMLS:C1850293
is_a: HP:0000926 ! Platyspondyly

[Term]
id: HP:0004566
name: Pear-shaped vertebrae
def: "Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours." [https://orcid.org/0000-0002-0736-9199, PMID:16167086]
synonym: "Pear-shaped vertebral bodies" EXACT []
xref: UMLS:C1866731
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0004568
name: Beaking of vertebral bodies
alt_id: HP:0003313
alt_id: HP:0003315
alt_id: HP:0004569
alt_id: HP:0004577
alt_id: HP:0004584
alt_id: HP:0005122
def: "Anterior tongue-like protrusions of the vertebral bodies." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "anterior beaking" EXACT []
synonym: "Anterior beaking of vertebrae" EXACT []
synonym: "Anterior beaking of vertebral bodies" EXACT []
synonym: "Beaked vertebral bodies" EXACT []
synonym: "Vertebral tongue-like protrusion" EXACT []
xref: SNOMEDCT_US:19888007
xref: UMLS:C0264112
xref: UMLS:C1856599
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0004570
name: Increased vertebral height
alt_id: HP:0005693
def: "Increased top to bottom height of vertebral bodies." [https://orcid.org/0000-0002-0736-9199]
synonym: "Tall vertebral bodies" EXACT []
xref: UMLS:C1864853
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0004571
name: Widening of cervical spinal canal
xref: UMLS:C3807591
is_a: HP:0046508 ! Abnormal cervical spine morphology

[Term]
id: HP:0004573
name: Anterior wedging of T11
def: "An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Anterior wedging of the 11th thoracic vertebra" EXACT []
synonym: "Wedge-shaped 11th thoracic vertebra" EXACT []
xref: UMLS:C4021652
is_a: HP:0008422 ! Vertebral wedging

[Term]
id: HP:0004575
name: Fusion of midcervical facet joints
xref: UMLS:C1847394
is_a: HP:0002949 ! Fused cervical vertebrae

[Term]
id: HP:0004576
name: Sclerotic vertebral endplates
def: "Sclerosis (increased density) affecting vertebral end plates." [https://orcid.org/0000-0002-0736-9199]
synonym: "Endplate sclerosis" EXACT []
xref: UMLS:C1859698
is_a: HP:0005106 ! Abnormality of the vertebral endplates

[Term]
id: HP:0004580
name: Anterior scalloping of vertebral bodies
def: "An excessive concavity of the anterior surface of one or more vertebral bodies." [https://orcid.org/0000-0002-0736-9199]
comment: One cause of anterior scalloping is an aortic aneurysm, which because of its pulsatile pressure can cause a convex defect along the anterior surface of an adjacent vertebra body. The defect may have a sclerotic margin.
synonym: "Anterior scalloping vertebral bodies" RELATED []
xref: UMLS:C2673652
is_a: HP:0004586 ! Biconcave vertebral bodies

[Term]
id: HP:0004581
name: Increased anterior vertebral height
xref: UMLS:C1866732
is_a: HP:0004570 ! Increased vertebral height

[Term]
id: HP:0004582
name: Irregularity of vertebral bodies
xref: UMLS:C4025311
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0004586
name: Biconcave vertebral bodies
alt_id: HP:0002952
alt_id: HP:0004561
alt_id: HP:0004620
def: "Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward." [https://orcid.org/0000-0002-0736-9199]
comment: This finding has been called fish or codfish vertebra because of the characteristic biconcave form of fish vertebral bodies.
subset: hposlim_core
synonym: "Biconcave 'codfish' vertebrae" EXACT []
synonym: "Biconcave vertebrae" EXACT []
synonym: "Codfish vertebrae" EXACT []
synonym: "Fish vertebrae" EXACT []
synonym: "Scalloping of vertebral bodies" EXACT []
xref: UMLS:C1856087
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0004589
name: Dysplasia of second lumbar vertebra
xref: UMLS:C4025310
is_a: HP:0003468 ! Abnormal vertebral morphology

[Term]
id: HP:0004590
name: Hypoplastic sacrum
def: "A developmental defect characterized by undergrowth of the sacrum, which is a large, triangular bone at the base of the spine that forms by the fusing of the sacral vertebrae (S1-S5)." [PMID:15350034]
synonym: "Small sacrum" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1970816
is_a: HP:0008517 ! Aplasia/Hypoplasia of the sacrum

[Term]
id: HP:0004591
name: Disc-like vertebral bodies
xref: UMLS:C1835444
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0004592
name: Thoracic platyspondyly
def: "A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the thoracic spine." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1862428
is_a: HP:0000926 ! Platyspondyly

[Term]
id: HP:0004594
name: Hump-shaped mound of bone in central and posterior portions of vertebral endplate
xref: UMLS:C1839252
is_a: HP:0003301 ! Irregular vertebral endplates

[Term]
id: HP:0004598
name: Supernumerary vertebral ossification centers
def: "Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Supernumerary vertebral ossification centres" EXACT uk_spelling []
xref: UMLS:C4025309
is_a: HP:0000926 ! Platyspondyly
is_a: HP:0100569 ! Abnormally ossified vertebrae

[Term]
id: HP:0004599
name: Absent or minimally ossified vertebral bodies
xref: UMLS:C1832983
is_a: HP:0100569 ! Abnormally ossified vertebrae

[Term]
id: HP:0004601
name: Spina bifida occulta at L5
def: "The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025308
is_a: HP:0003298 ! Spina bifida occulta

[Term]
id: HP:0004602
name: Cervical C2/C3 vertebral fusion
alt_id: HP:0004636
def: "Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fusion of cervical vertebrae c2-3" EXACT []
synonym: "Klippel-Feil anomaly" EXACT []
synonym: "Klippel-Feil syndrome" EXACT []
xref: SNOMEDCT_US:388981000
xref: SNOMEDCT_US:5601008
xref: UMLS:C0022738
is_a: HP:0002949 ! Fused cervical vertebrae

[Term]
id: HP:0004603
name: Hyperconvex vertebral body endplates
xref: UMLS:C4025307
is_a: HP:0005106 ! Abnormality of the vertebral endplates

[Term]
id: HP:0004605
name: Absent vertebral body mineralization
def: "A lack of bone mineralization of the vertebral bodies." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1860191
is_a: HP:0004599 ! Absent or minimally ossified vertebral bodies

[Term]
id: HP:0004606
name: Unossified vertebral bodies
alt_id: HP:0008427
def: "A lack of ossification of the vertebral bodies." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1860202
is_a: HP:0004599 ! Absent or minimally ossified vertebral bodies

[Term]
id: HP:0004607
name: Anterior beaking of lower thoracic vertebrae
def: "Anterior tongue-like protrusions of the lower thoracic vertebral bodies." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025306
is_a: HP:0004568 ! Beaking of vertebral bodies

[Term]
id: HP:0004608
name: Anteriorly placed odontoid process
def: "Anterior mislocalization of the dens of the axis." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1844512
is_a: HP:0003310 ! Abnormal odontoid process morphology

[Term]
id: HP:0004609
name: Patchy distortion of vertebrae
xref: UMLS:C4025305
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0004610
name: Lumbar spinal canal stenosis
def: "An abnormal narrowing of the lumbar spinal canal." [https://orcid.org/0000-0002-0736-9199, PMID:3160275]
comment: Symptoms of lumbar spinal canal stenosis include pseudoclaudication (pain, numbness,, or weakness induced by walking and relieved by rest; the prefix pseudo is used to differentiate this manifestation from claudication, which has similar symptoms but is caused by peripheral artery disease).
synonym: "Lumbar spinal stenosis" EXACT []
synonym: "Narrow lumbar spinal canal" EXACT []
xref: SNOMEDCT_US:18347007
xref: UMLS:C0158288
is_a: HP:0003416 ! Spinal canal stenosis

[Term]
id: HP:0004611
name: Anterior concavity of thoracic vertebrae
synonym: "Anteriorly concave vertebrae" EXACT []
xref: UMLS:C1839822
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0004614
name: Spina bifida occulta at S1
def: "The closed form of spina bifida with incomplete closure of S1 with intact overlying skin." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025304
is_a: HP:0003298 ! Spina bifida occulta

[Term]
id: HP:0004616
name: Cleft vertebral arch
def: "A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cleft vertebral arches" RELATED []
xref: UMLS:C1859458
is_a: HP:0008438 ! Vertebral arch anomaly

[Term]
id: HP:0004617
name: Butterfly vertebral arch
def: "Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1861627
is_a: HP:0008438 ! Vertebral arch anomaly

[Term]
id: HP:0004618
name: Sandwich appearance of vertebral bodies
xref: UMLS:C1850134
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0004619
name: Lumbar kyphoscoliosis
xref: UMLS:C1834953
is_a: HP:0002751 ! Kyphoscoliosis
is_a: HP:0004626 ! Lumbar scoliosis
is_a: HP:0008454 ! Lumbar kyphosis

[Term]
id: HP:0004621
name: Enlarged vertebral pedicles
def: "Increased size of the vertebral pedicle." [https://orcid.org/0000-0002-0736-9199]
comment: The vertebral pedicles are the two short, thick processes, which connect the body of the spinal vertebra to the arch.
synonym: "Hyperplastic vertebral pedicles" EXACT []
xref: UMLS:C4025303
is_a: HP:0030277 ! Abnormal vertebral pedicle morphology

[Term]
id: HP:0004622
name: Progressive intervertebral space narrowing
def: "A progressive form of decreased height of the intervertebral disk." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1837670
is_a: HP:0002945 ! Intervertebral space narrowing

[Term]
id: HP:0004625
name: Biconvex vertebral bodies
def: "Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates." [https://orcid.org/0000-0002-0736-9199]
comment: Note that biconvex vertebral bodies can be a normal finding in newborns.
xref: UMLS:C1866675
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0004626
name: Lumbar scoliosis
xref: UMLS:C2748518
is_a: HP:0002944 ! Thoracolumbar scoliosis

[Term]
id: HP:0004629
name: Small cervical vertebral bodies
alt_id: HP:0008429
def: "Reduced size of cervical vertebrae." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small cervical vertebrae" EXACT []
xref: UMLS:C1851130
is_a: HP:0008479 ! Hypoplastic vertebral bodies

[Term]
id: HP:0004630
name: Anterior beaking of thoracic vertebrae
def: "Anterior tongue-like protrusions of thoracic vertebral bodies." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025302
is_a: HP:0004568 ! Beaking of vertebral bodies

[Term]
id: HP:0004631
name: Decreased cervical spine flexion due to contractures of posterior cervical muscles
synonym: "Contracture of post-cervical muscles" EXACT []
synonym: "Inability to touch chin to chest" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1839653
xref: UMLS:C4280512
is_a: HP:0001371 ! Flexion contracture

[Term]
id: HP:0004632
name: Cervical segmentation defect
alt_id: HP:0004612
def: "An abnormality related to a defect of vertebral separation of cervical vertebrae during development." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cervical spine segmentation defect" EXACT []
xref: UMLS:C1862415
is_a: HP:0003422 ! Vertebral segmentation defect

[Term]
id: HP:0004633
name: Lower thoracic kyphosis
def: "Over curvature of the lower thoracic region, leading to a round back or if sever to a hump." [https://orcid.org/0000-0002-0736-9199]
synonym: "Round mid-back" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1864361
is_a: HP:0002942 ! Thoracic kyphosis

[Term]
id: HP:0004634
name: Cuboid-shaped vertebral bodies
synonym: "Cuboid vertebral bodies" EXACT []
xref: UMLS:C2673653
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0004635
name: Cervical C5/C6 vertebrae fusion
def: "Fusion of the C5 and C6 cervical vertebrae." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025301
is_a: HP:0002949 ! Fused cervical vertebrae

[Term]
id: HP:0004637
name: Decreased cervical spine mobility
synonym: "Limited neck movement" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1859692
is_a: HP:0003319 ! Abnormality of the cervical spine

[Term]
id: HP:0004639
name: Elevated amniotic fluid alpha-fetoprotein
alt_id: HP:0005985
def: "An elevation of alpha-feto protein measured in the amniotic fluid." [https://orcid.org/0000-0002-0736-9199]
comment: This feature can be found in pregnancies with fetuses affected by a range of abnormalities including for instance encephalocele.
synonym: "Elevated amniotic fluid alpha fetal protein" EXACT [https://en.wikipedia.org/wiki/alpha-fetoprotein, https://orcid.org/0000-0001-5208-3432]
synonym: "Elevated amniotic fluid alpha foetal protein" EXACT uk_spelling []
synonym: "Elevated amniotic fluid alpha-1-fetoprotein" EXACT [https://en.wikipedia.org/wiki/alpha-fetoprotein, https://orcid.org/0000-0001-5208-3432]
synonym: "Elevated amniotic fluid alpha-fetoglobulin" EXACT [https://en.wikipedia.org/wiki/alpha-fetoprotein, https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1839860
is_a: HP:0006254 ! Elevated circulating alpha-fetoprotein concentration

[Term]
id: HP:0004646
name: Hypoplasia of the nasal bone
def: "Underdevelopment of the nasal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased size of nasal bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deficiency of nasal bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypotrophic nasal bone" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Nasal bone hypoplasia" EXACT []
synonym: "Small nasal bone" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of nasal bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4021651
is_a: HP:0009924 ! Aplasia/Hypoplasia involving the nose
is_a: HP:0010940 ! Aplasia/Hypoplasia of the nasal bone

[Term]
id: HP:0004660
name: Hypoplasia of facial musculature
def: "Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Atrophy of facial musculature" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of facial muscles" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deficiency of facial musculature" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypotrophic facial musculature" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Small facial muscles" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of facial muscles" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1834042
xref: UMLS:C4280509
xref: UMLS:C4280510
xref: UMLS:C4280511
is_a: HP:0000301 ! Abnormality of facial musculature

[Term]
id: HP:0004661
name: Frontalis muscle weakness
def: "Reduced strength of the frontalis muscle (which is located on the forehead)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Weak frontalis muscle" EXACT []
synonym: "Weakness of forehead muscle" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1859438
is_a: HP:0010628 ! Facial palsy
is_a: HP:3000004 ! Abnormal frontalis muscle physiology
property_value: terms:creator https://orcid.org/0000-0002-5316-1399

[Term]
id: HP:0004664
name: Facial midline hemangioma
def: "Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1862496
is_a: HP:0000329 ! Facial hemangioma

[Term]
id: HP:0004673
name: Decreased facial expression
def: "A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased facial expression" EXACT layperson []
xref: UMLS:C1862474
is_a: HP:0005346 ! Abnormal facial expression

[Term]
id: HP:0004676
name: Prominent supraorbital arches in adult
xref: UMLS:C1834993
is_a: HP:0000336 ! Prominent supraorbital ridges

[Term]
id: HP:0004679
name: Large tarsal bones
synonym: "Large ankle bones" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1859116
is_a: HP:0001850 ! Abnormality of the tarsal bones

[Term]
id: HP:0004681
name: Deep longitudinal plantar crease
def: "Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot." [PMID:19125433]
subset: hposlim_core
synonym: "Foot crease" BROAD layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Longitudinal groove on soles" EXACT []
xref: UMLS:C1859223
xref: UMLS:C4280508
is_a: HP:0001869 ! Deep plantar creases

[Term]
id: HP:0004684
name: Talipes valgus
def: "Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot." [https://orcid.org/0000-0002-0736-9199]
comment: The phrase talipes valgus is derived from the Latin words talus (ankle), pes (poot), and valgus (outward angulation of the distal segment of a bone).
xref: SNOMEDCT_US:79807003
xref: UMLS:C0152236
is_a: HP:0034673 ! Abnormal ankle morphology

[Term]
id: HP:0004686
name: Short third metatarsal
alt_id: HP:0010673
def: "Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplasia of the 3rd metatarsal bone" EXACT []
synonym: "Short 3rd long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021650
is_a: HP:0010672 ! Abnormality of the third metatarsal bone
is_a: HP:0010743 ! Short metatarsal

[Term]
id: HP:0004688
name: Irregular tarsal bones
synonym: "Abnormal shape of ankle bones" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1855240
is_a: HP:0001850 ! Abnormality of the tarsal bones

[Term]
id: HP:0004689
name: Short fourth metatarsal
def: "Short fourth metatarsal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bilateral fourth metatarsal shortening" EXACT []
synonym: "Short 4th long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Short fourth metatarsals" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Short fourth metatarsus" EXACT []
xref: UMLS:C1848514
is_a: HP:0010743 ! Short metatarsal
is_a: HP:0040035 ! Abnormality of the fourth metatarsal bone

[Term]
id: HP:0004690
name: Thickened Achilles tendon
def: "An abnormal thickening of the Achilles tendon." [https://orcid.org/0000-0002-0736-9199]
synonym: "Thickened Achilles tendon" EXACT layperson []
xref: UMLS:C0919997
is_a: HP:0005109 ! Abnormality of the Achilles tendon

[Term]
id: HP:0004691
name: 2-3 toe syndactyly
alt_id: HP:0001846
alt_id: HP:0001856
alt_id: HP:0003773
alt_id: HP:0004683
alt_id: HP:0004685
alt_id: HP:0004697
alt_id: HP:0004703
alt_id: HP:0008086
alt_id: HP:0008123
def: "Syndactyly with fusion of toes two and three." [https://orcid.org/0009-0006-4530-3154]
synonym: "2-3 syndactyly of feet" EXACT []
synonym: "2-3 toe soft tissue syndactyly" EXACT []
synonym: "2-3 toes syndactyly" EXACT []
synonym: "partial or complete syndactyly 2nd-3rd toes" EXACT []
synonym: "Syndactyly of second and third toes" EXACT []
synonym: "Toe syndactyly, 2-3" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Webbed 2nd and 3rd toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:205145001
xref: UMLS:C0432040
is_a: HP:0001770 ! Toe syndactyly

[Term]
id: HP:0004692
name: 4-5 toe syndactyly
alt_id: HP:0005826
alt_id: HP:0005861
def: "Syndactyly with fusion of toes four and five." [https://orcid.org/0009-0006-4530-3154]
synonym: "Symmetric syndactyly, toes 4 and 5" EXACT []
synonym: "Syndactyly of toes 4 and 5" EXACT []
synonym: "Webbed 4th-5th toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1837836
is_a: HP:0001770 ! Toe syndactyly

[Term]
id: HP:0004695
name: Calcaneal epiphyseal stippling
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1861708
is_a: HP:0010655 ! Epiphyseal stippling

[Term]
id: HP:0004696
name: Talipes cavus equinovarus
xref: UMLS:C1832342
is_a: HP:0001762 ! Talipes equinovarus

[Term]
id: HP:0004699
name: Osteoporotic metatarsal
def: "Decrease in mass and density of the metatarsal bones." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1836873
is_a: HP:0001832 ! Abnormal metatarsal morphology

[Term]
id: HP:0004704
name: Short fifth metatarsal
alt_id: HP:0004702
alt_id: HP:0010671
def: "Short (hypoplastic) fifth metatarsal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplasia of the fifth metatarsal bone" EXACT []
synonym: "Short 5th long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021649
is_a: HP:0008089 ! Abnormality of the fifth metatarsal bone
is_a: HP:0010743 ! Short metatarsal

[Term]
id: HP:0004712
name: Renal malrotation
alt_id: HP:0004730
def: "An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney." [https://orcid.org/0000-0002-0736-9199]
comment: The final kidney position in the renal fossa results from the rotation of the kidney with an orientation of the renal pelvis to the medial and the renal calyces to the lateral. Malrotation of the kidney can lead to orientation of the renal pelvis anteriorly, posteriorly and laterally. In most cases, renal malrotation does not cause any symptoms, but, hydronephrosis or stone formation can be observed as complications of renal malformation.
synonym: "Abnormal rotation of the kidneys" EXACT layperson []
synonym: "Malrotation of the kidney" EXACT []
xref: SNOMEDCT_US:49008000
xref: UMLS:C0238210
is_a: HP:0012210 ! Abnormal renal morphology

[Term]
id: HP:0004713
name: Reversible renal failure
def: "Acute renal failure with resolution of manifestations." [https://orcid.org/0000-0002-0736-9199]
synonym: "Reversible kidney failure" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Reversible renal failure" EXACT layperson []
xref: UMLS:C1843276
is_a: HP:0000083 ! Renal insufficiency

[Term]
id: HP:0004717
name: Axial malrotation of the kidney
def: "An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025300
is_a: HP:0004712 ! Renal malrotation

[Term]
id: HP:0004719
name: Hyperechogenic kidneys
def: "An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal." [https://orcid.org/0000-0002-0736-9199, PMID:2259758, PMID:24235286]
comment: Normal renal parenchyma is similar (isoechoic) or slightly darker (hypoechoic) compared with liver and includes the cortex and medulla. The thickness of the renal cortex is measured from the outer border of the medullary pyramids (yellow line) or from the arcuate arteries to the renal capsule. The medullary pyramids (white arrow) contain fluid in parallel tubules, which is anechoic (black) and appear as regularly spaced dark pools at the inner margin of the parenchyma (arrow). Because fat is echogenic, the central renal sinus appears bright.
synonym: "Echogenic kidneys" EXACT []
synonym: "Increased echogenicity of the renal parenchyma" EXACT []
xref: UMLS:C3275899
is_a: HP:0033130 ! Abnormal renal echogenicity

[Term]
id: HP:0004722
name: Thickened glomerular basement membrane
def: "Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney." [https://orcid.org/0000-0002-0736-9199]
comment: This finding is demonstrated on renal biopsy.
xref: SNOMEDCT_US:264932002
xref: UMLS:C0445347
is_a: HP:0033282 ! Abnormal glomerular basement membrane morphology
property_value: RO:0002581 "Thickening of the glomerular basement membrane" xsd:string

[Term]
id: HP:0004724
name: Calcium nephrolithiasis
def: "The presence of calcium-containing calculi (stones) in the kidneys." [https://orcid.org/0000-0002-0736-9199]
comment: The overwhelming majority of renal calculi contain calcium.
synonym: "Ca kidney stone" EXACT abbreviation []
synonym: "Ca nephrolithiasis" EXACT abbreviation []
synonym: "Ca2+ kidney stone" EXACT abbreviation []
synonym: "Ca2+ nephrolithiasis" EXACT abbreviation []
synonym: "Calcium kidney stone" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1855801
is_a: HP:0000787 ! Nephrolithiasis

[Term]
id: HP:0004727
name: Impaired renal concentrating ability
alt_id: HP:0005568
def: "A defect in the ability to concentrate the urine." [https://orcid.org/0000-0002-0736-9199]
comment: An impairment in renal concentrating ability can be easily recognized by the maximum concentrating ability (Umax) as determined by the urine osmolality reached after a fixed period of dehydration. Inability to maximally concentrate the urine is related to one or both of two basic tubular defects: 1) a failure of maximal free-water generation by the diluting segment in the ascending limb of Henle's loop; and 2) a failure of the distal tubular epithelium to achieve maximum permeability to water during water deprivation.
synonym: "Urine concentrating defect" EXACT []
synonym: "Urine concentration defect" EXACT []
xref: UMLS:C1859819
is_a: HP:0011038 ! Abnormal renal tubular resorption

[Term]
id: HP:0004729
name: Acute tubulointerstitial nephritis
def: "Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1843274
is_a: HP:0001970 ! Tubulointerstitial nephritis

[Term]
id: HP:0004732
name: Impaired renal uric acid clearance
def: "A reduction in the ability of the kidneys to remove uric acid from the serum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Uric acid fractional excretion decreased" EXACT []
xref: UMLS:C1969371
is_a: HP:0011036 ! Abnormality of renal excretion

[Term]
id: HP:0004734
name: Renal cortical microcysts
alt_id: HP:0000814
def: "Cysts of microscopic size confined to the cortex of the kidney." [HPO_CONTRIBUTOR:Eurenomics_ewuehl]
synonym: "Cortical microcysts" EXACT []
synonym: "Multiple renal cortical microcysts" EXACT []
synonym: "Multiple small renal cortical cysts" EXACT []
xref: UMLS:C1865877
is_a: HP:0000803 ! Renal cortical cysts

[Term]
id: HP:0004736
name: Crossed fused renal ectopia
def: "A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys." [https://orcid.org/0000-0002-0736-9199]
synonym: "Crossed-fused renal ectopia" EXACT []
synonym: "Ectopic kidney with fusion" EXACT []
xref: UMLS:C1835796
is_a: HP:0000086 ! Ectopic kidney

[Term]
id: HP:0004737
name: Global glomerulosclerosis
def: "Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%." [HPO_CONTRIBUTOR:Eurenomics_ewuehl, https://orcid.org/0000-0003-2356-950X]
comment: Glomerular changes can be focal (only in some glomeruli) or diffuse (in all or almost all the glomeruli), and segmental (only a part of the glomerulus) or global (the entire glomerulus).
xref: UMLS:C1865276
is_a: HP:0000096 ! Glomerular sclerosis

[Term]
id: HP:0004742
name: Abnormal renal collecting system morphology
alt_id: HP:0004731
def: "An abnormality of the renal collecting system." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal collecting system" EXACT []
synonym: "Abnormality of the renal collecting system" EXACT []
synonym: "Renal collecting system anomalies" EXACT []
xref: UMLS:C1851303
is_a: HP:0012210 ! Abnormal renal morphology

[Term]
id: HP:0004743
name: Chronic tubulointerstitial nephritis
def: "Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:60926001
xref: UMLS:C0238304
is_a: HP:0001970 ! Tubulointerstitial nephritis

[Term]
id: HP:0004746
name: Glomerular subendothelial electron-dense deposits
def: "Electron dense deposits at the glomerular basement membrane," [HPO_CONTRIBUTOR:Eurenomics_ewuehl, PMID:20301598, PMID:30085237]
comment: Subendothelial electron-dense deposits are a characteristic feature of dense-deposit disease.
synonym: "Dense deposit disease" RELATED []
synonym: "Membranoproliferative glomerulonephritis type II" RELATED []
xref: SNOMEDCT_US:59479006
xref: UMLS:C0268743
is_a: HP:0030949 ! Glomerular deposits

[Term]
id: HP:0004749
name: Atrial flutter
def: "A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit." [https://orcid.org/0000-0002-0736-9199]
comment: Atrial flutter can lead to palpitations, fatigue, dyspnea, and chest pain. Atrial flutter can be paroxysmal or persistent.
xref: SNOMEDCT_US:5370000
xref: UMLS:C0004239
is_a: HP:0001692 ! Atrial arrhythmia

[Term]
id: HP:0004751
name: Paroxysmal ventricular tachycardia
alt_id: HP:0005141
def: "Episodes of ventricular tachycardia that have a sudden onset and ending." []
synonym: "Episodes of ventricular tachycardia" EXACT []
xref: SNOMEDCT_US:66657009
xref: UMLS:C0030591
is_a: HP:0004756 ! Ventricular tachycardia

[Term]
id: HP:0004752
name: Congenital atrioventricular dissociation
def: "A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025299
is_a: HP:0011709 ! Atrioventricular dissociation

[Term]
id: HP:0004754
name: Permanent atrial fibrillation
def: "Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent." [https://orcid.org/0000-0002-0736-9199, PMID:12860883]
comment: The natural history of atrial fibrillation (AF) is characterized by a gradual worsening with time. AF itself produces changes in atrial function and structure. Note there is no precise definition of the duration of AF required to be regarded as chronic.
synonym: "Chronic atrial fibrillation" RELATED []
xref: SNOMEDCT_US:426749004
xref: SNOMEDCT_US:440028005
xref: UMLS:C0694539
xref: UMLS:C2586056
is_a: HP:0005110 ! Atrial fibrillation

[Term]
id: HP:0004755
name: Supraventricular tachycardia
def: "Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
comment: A narrow complex (QRS width less than 120 milliseconds) reflects rapid activation of the ventricles via the normal conduction pathway, i.e. His-Purkinje system, which in turn suggests that the tachycardia originated above the AV node and is thus supraventricular.
synonym: "Supraventricular tachyarrhythmia" EXACT []
synonym: "SVT" EXACT abbreviation []
xref: SNOMEDCT_US:6456007
xref: UMLS:C0039240
xref: UMLS:C1698480
is_a: HP:0001649 ! Tachycardia
is_a: HP:0005115 ! Supraventricular arrhythmia

[Term]
id: HP:0004756
name: Ventricular tachycardia
def: "A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms)." []
comment: Ventricular tachycardia (VT) is a potentially life-threatening ventricular arrhythmia that presents as a wide QRS complex tachycardia, and is defined as three or more consecutive QRS complexes with a duration longer than 120 milliseconds (ms) and a rate of 100 beats per minute or more, whereby the complexes have a ventricular origin. VT can be subdivided as follows: (i) sustained VT persists for 30 seconds or more; (ii) non-sustained VT lasts less than 30 seconds; (iii) monomorphic VT displays a uniform QRS morphology; and (iv) polymorphic VT displays QRS morphologies that variy from beat to beat. VT is observed most commonly in individuals with structural heart disease or acute myocardial infarction (MI). VT may also be observed in in the setting of drug toxicity or electrolyte abnormalities or in individuals with Mendelian disease.
xref: Fyler:7160
xref: SNOMEDCT_US:25569003
xref: UMLS:C0042514
is_a: HP:0001649 ! Tachycardia

[Term]
id: HP:0004757
name: Paroxysmal atrial fibrillation
def: "Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously." [https://orcid.org/0000-0002-0736-9199, PMID:30571060]
synonym: "Atrial fibrillation, paroxysmal" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Intermittent atrial fibrillation" EXACT []
synonym: "Paroxysmal AF" EXACT abbreviation []
xref: SNOMEDCT_US:282825002
xref: UMLS:C0235480
is_a: HP:0005110 ! Atrial fibrillation

[Term]
id: HP:0004758
name: Effort-induced polymorphic ventricular tachycardia
def: "Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration." [PMID:15913575]
synonym: "Catecholaminergic polymorphic ventricular tachycardia" EXACT []
synonym: "Exercise-induced polymorphic ventricular tachycardia" EXACT []
xref: UMLS:C4025298
is_a: HP:0004756 ! Ventricular tachycardia

[Term]
id: HP:0004759
name: obsolete Nodular calcific aortic valve disease
is_obsolete: true
consider: HP:0004380

[Term]
id: HP:0004760
name: obsolete Congenital septal defect
is_obsolete: true
consider: HP:0001671

[Term]
id: HP:0004761
name: Post-angioplasty coronary artery restenosis
xref: UMLS:C2676505
is_a: HP:0001677 ! Coronary artery atherosclerosis

[Term]
id: HP:0004762
name: Hypoplasia of right ventricle
alt_id: HP:0004951
def: "Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells." [MP:0010422]
synonym: "Heart right ventricle hypoplasia" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Small right heart chamber" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Underdeveloped right heart chamber" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: Fyler:1821
xref: UMLS:C4082954
is_a: HP:0001707 ! Abnormal right ventricle morphology

[Term]
id: HP:0004763
name: Paroxysmal supraventricular tachycardia
alt_id: HP:0004765
def: "An episodic form of supraventricular tachycardia with abrupt onset and termination." [PMID:18025404]
comment: PSVT is a term used to denote intermittent supraventricular tachycardia other than atrial fibrillation, atrial flutter and multifocal atrial tachycardia (AT). The major causes are atrioventricular reentrant tachycardia (AVNRT), atrioventricular reentrant tachycardia (AVRT), and sinoatrial node reentrant tachycardia (SNRT).
synonym: "Episodic rapid heart beat" BROAD layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Episodic supraventricular tachycardia" EXACT []
synonym: "PSVT" EXACT abbreviation []
xref: SNOMEDCT_US:67198005
xref: UMLS:C0030590
xref: UMLS:C4280507
is_a: HP:0004755 ! Supraventricular tachycardia

[Term]
id: HP:0004764
name: Myxomatous mitral valve degeneration
def: "Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view." [https://orcid.org/0000-0002-0736-9199, PMID:21143934]
xref: SNOMEDCT_US:253395003
xref: SNOMEDCT_US:42069006
xref: UMLS:C0264885
is_a: HP:0001634 ! Mitral valve prolapse

[Term]
id: HP:0004768
name: Sparse anterior scalp hair
def: "Decreased number of head hairs per unit area on the anterior region of the scalp." [https://orcid.org/0000-0002-0736-9199]
synonym: "Sparse scalp hair at front of head" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thin scalp hair at front of head" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1866246
is_a: HP:0000599 ! Abnormality of the frontal hairline
is_a: HP:0002209 ! Sparse scalp hair

[Term]
id: HP:0004771
name: Premature graying of body hair
synonym: "Premature graying of body hair" EXACT layperson []
synonym: "Premature greying of body hair" EXACT uk_spelling []
xref: UMLS:C1849125
is_a: HP:0002216 ! Premature graying of hair

[Term]
id: HP:0004779
name: Brittle scalp hair
alt_id: HP:0004776
def: "Fragile, easily breakable scalp hair." [https://orcid.org/0000-0003-1773-4011]
synonym: "Brittle scalp hair" EXACT layperson []
xref: UMLS:C4025296
is_a: HP:0002299 ! Brittle hair

[Term]
id: HP:0004780
name: Elbow hypertrichosis
def: "Excessive, increased hair growth located in the elbow region." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hairy elbow" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Hairy elbow syndrome" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Hypertrichosis cubiti" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Pilosity of elbow" EXACT [PMID:32005960]
xref: UMLS:C4025295
is_a: HP:0000998 ! Hypertrichosis

[Term]
id: HP:0004782
name: obsolete Hypotrichosis of the scalp
is_obsolete: true
replaced_by: HP:0002209

[Term]
id: HP:0004783
name: Duodenal polyposis
def: "Presence of multiple polyps in the duodenum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Multiple duodenal polyps" EXACT []
xref: SNOMEDCT_US:301797007
xref: UMLS:C0578477
is_a: HP:0030256 ! Small intestinal polyposis

[Term]
id: HP:0004784
name: Juvenile gastrointestinal polyposis
def: "The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps." [https://orcid.org/0000-0002-0736-9199, PMID:25022750]
synonym: "Juvenile GI polyposis" EXACT abbreviation []
xref: UMLS:C4025294
is_a: HP:0004390 ! Hamartomatous polyposis

[Term]
id: HP:0004785
name: Malrotation of colon
def: "An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:6477005
xref: UMLS:C0266196
is_a: HP:0002250 ! Abnormal large intestine morphology
is_a: HP:0002566 ! Intestinal malrotation

[Term]
id: HP:0004786
name: Jejunal diverticula
xref: UMLS:C4025293
is_a: HP:0002256 ! Small bowel diverticula

[Term]
id: HP:0004787
name: Fulminant hepatitis
def: "Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice." [https://orcid.org/0000-0002-0736-9199, PMID:18825677]
comment: Note that different definitions of fulminant hepatitis are used in the medical literature.
xref: SNOMEDCT_US:427044009
xref: UMLS:C0302809
is_a: HP:0004448 ! Fulminant hepatic failure
is_a: HP:0012115 ! Hepatitis

[Term]
id: HP:0004788
name: Intestinal lymphedema
def: "Fluid retention and edema in the intestine caused by a compromised lymphatic system." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025292
is_a: HP:0001004 ! Lymphedema
is_a: HP:0005225 ! Intestinal edema

[Term]
id: HP:0004789
name: Lactose intolerance
def: "An inability to digest lactose." [https://orcid.org/0000-0002-0736-9199]
synonym: "Lactose intolerance" EXACT layperson []
synonym: "Milk intolerance" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:267425008
xref: SNOMEDCT_US:700094005
xref: UMLS:C0022951
is_a: HP:0002024 ! Malabsorption

[Term]
id: HP:0004790
name: Hypoplasia of the small intestine
def: "Underdevelopment of the small intestine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Underdeveloped small intestine" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4025291
is_a: HP:0002244 ! Abnormal small intestine morphology
is_a: HP:0005245 ! Intestinal hypoplasia

[Term]
id: HP:0004791
name: Esophageal ulceration
def: "Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Esophagus ulcer" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Oesophagus ulcer" EXACT uk_spelling []
synonym: "Oesophagus ulceration" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:30811009
xref: UMLS:C0151970
is_a: HP:0002031 ! Abnormal esophagus morphology
is_a: HP:0034274 ! Gastrointestinal ulcer

[Term]
id: HP:0004792
name: Rectoperineal fistula
def: "The presence of a fistula between the perineum and the rectum." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C0240880
is_a: HP:0004871 ! Perineal fistula
is_a: HP:0100590 ! Rectal fistula

[Term]
id: HP:0004794
name: Malrotation of small bowel
def: "A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel." [https://orcid.org/0000-0002-0736-9199]
comment: Malrotation results not only in the malposition of the bowel but also in the malfixation of the mesentery. The normally broad mesenteric attachment is shortened to a narrow pedicle that predisposes the patient to the complication of midgut volvulus.
synonym: "Malrotation of the small intestine" EXACT []
xref: UMLS:C1860244
is_a: HP:0002244 ! Abnormal small intestine morphology
is_a: HP:0002566 ! Intestinal malrotation

[Term]
id: HP:0004795
name: Hamartomatous stomach polyps
def: "Polyp-like protrusions which are histologically hamartomas located in the stomach." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1862304
is_a: HP:0004390 ! Hamartomatous polyposis
is_a: HP:0006753 ! Neoplasm of the stomach

[Term]
id: HP:0004796
name: Gastrointestinal obstruction
synonym: "Gastrointestinal obstruction" EXACT layperson []
synonym: "GI obstruction" EXACT abbreviation []
synonym: "Obstruction in digestive tract" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:126765001
xref: UMLS:C0236124
is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract

[Term]
id: HP:0004797
name: Multiple small bowel atresias
def: "The presence of multiple areas of atresia affecting the small intestine." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1857476
is_a: HP:0011100 ! Intestinal atresia

[Term]
id: HP:0004798
name: Recurrent infection of the gastrointestinal tract
def: "Recurrent infection of the gastrointestinal tract." [https://orcid.org/0000-0002-0736-9199]
synonym: "Gastrointestinal infections" RELATED layperson []
synonym: "Gastrointestinal infections, recurrent" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Recurrent gastrointestinal infections" EXACT layperson []
synonym: "Recurrent infection of the gastrointestinal tract" EXACT layperson []
synonym: "Recurrent infection of the GI tract" EXACT abbreviation []
xref: SNOMEDCT_US:715852004
xref: UMLS:C1854495
xref: UMLS:C4082764
is_a: HP:0002719 ! Recurrent infections
is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract

[Term]
id: HP:0004799
name: Jejunoileal diverticula
xref: UMLS:C4025290
is_a: HP:0002256 ! Small bowel diverticula

[Term]
id: HP:0004800
name: Duodenal diverticula
xref: SNOMEDCT_US:197083003
xref: UMLS:C0341266
is_a: HP:0002256 ! Small bowel diverticula

[Term]
id: HP:0004802
name: Episodic hemolytic anemia
def: "A form of hemolytic anemia that occurs in repeated episodes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Episodic hemolysis" EXACT []
synonym: "Episodic hemolytic anaemia" EXACT uk_spelling []
xref: UMLS:C1859495
is_a: HP:0001878 ! Hemolytic anemia

[Term]
id: HP:0004804
name: Congenital hemolytic anemia
alt_id: HP:0004811
alt_id: HP:0004824
def: "A form of hemolytic anemia with congenital onset." [https://orcid.org/0000-0002-0736-9199]
synonym: "Congenital haemolytic anaemia" EXACT uk_spelling []
synonym: "Congenital haemolytic anemia" EXACT []
synonym: "Congenital hemolytic anaemia" EXACT uk_spelling []
synonym: "Neonatal hemolytic anaemia" RELATED uk_spelling []
synonym: "Neonatal hemolytic anemia" RELATED []
xref: SNOMEDCT_US:38911009
xref: SNOMEDCT_US:42601008
xref: UMLS:C0002881
xref: UMLS:C4020827
is_a: HP:0001878 ! Hemolytic anemia

[Term]
id: HP:0004808
name: Acute myeloid leukemia
alt_id: HP:0001914
alt_id: HP:0004843
alt_id: HP:0005516
alt_id: HP:0006724
alt_id: HP:0006728
def: "A form of leukemia characterized by overproduction of an early myeloid cell." [https://orcid.org/0000-0002-0736-9199]
synonym: "Acute myeloblastic leukaemia" EXACT uk_spelling []
synonym: "Acute myeloblastic leukemia" EXACT []
synonym: "Acute myelocytic leukaemia" EXACT uk_spelling []
synonym: "Acute myelocytic leukemia" EXACT []
synonym: "Acute myelogenous leukaemia" EXACT uk_spelling []
synonym: "Acute myelogenous leukemia" EXACT []
synonym: "Acute myeloid leukaemia" EXACT uk_spelling []
synonym: "AML" EXACT abbreviation []
xref: SNOMEDCT_US:17788007
xref: SNOMEDCT_US:413443009
xref: SNOMEDCT_US:91861009
xref: UMLS:C0023467
is_a: HP:0002488 ! Acute leukemia

[Term]
id: HP:0004809
name: Neonatal alloimmune thrombocytopenia
def: "Low platelet count associated with maternal platelet-specific alloantibodies." [https://orcid.org/0000-0002-0736-9199]
comment: Neonatal alloimmune thrombocytopenia occurs following fetomaternal transfusions leading to generation of alloreactive antiplatelet antibodies.
xref: SNOMEDCT_US:240305000
xref: UMLS:C3853779
is_a: HP:0001873 ! Thrombocytopenia

[Term]
id: HP:0004810
name: Congenital hypoplastic anemia
alt_id: HP:0005545
def: "A type of hypoplastic anemia with congenital onset." [https://orcid.org/0000-0002-0736-9199]
comment: In this condition, hematopoiesis must have been inadequate in fetal life. Affected infant have marked pallor and reticulocytopenia or absence of red blood cell precursors in an otherwise normally cellular bone marrow. This term does not refer to a particular diagnosis or etiology (or which several are known) but to the phenotypic feature.
synonym: "Congenital dyserythropoietic anaemia" EXACT uk_spelling []
synonym: "Congenital dyserythropoietic anemia" EXACT []
synonym: "Congenital hypoplastic anaemia" EXACT uk_spelling []
xref: SNOMEDCT_US:234371002
xref: SNOMEDCT_US:52951008
xref: SNOMEDCT_US:88854002
xref: UMLS:C0002876
xref: UMLS:C1260899
is_a: HP:0001908 ! Hypoplastic anemia

[Term]
id: HP:0004812
name: B Acute Lymphoblastic Leukemia
def: "A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood." [NCIT:C8644]
synonym: "B Acute Lymphoblastic Leukaemia" EXACT uk_spelling []
synonym: "Pre-B-cell acute lymphoblastic leukaemia" EXACT uk_spelling []
synonym: "Pre-B-cell acute lymphoblastic leukemia" EXACT []
is_a: HP:0006721 ! Acute lymphoblastic leukemia

[Term]
id: HP:0004813
name: Post-transfusion thrombocytopenia
def: "Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages." [https://orcid.org/0000-0002-4381-2442]
comment: Post-transfusion thrombocytopenia is thought to be related to platelet-specific alloantibody from prior transfusion/pregnancy.
synonym: "Post-transfusion purpura" RELATED []
xref: SNOMEDCT_US:73162004
xref: UMLS:C0398648
xref: UMLS:C1868252
is_a: HP:0001873 ! Thrombocytopenia

[Term]
id: HP:0004814
name: Fava bean-induced hemolytic anemia
def: "A kind of hemolytic anemia that is induced by the ingestion of fava beans." [https://orcid.org/0000-0002-0736-9199]
comment: Persons with glucose-6-phosphate dehydrogenase (G6PD) deficiency are susceptible to fava bean-induced hemolytic anemia because of the oxidative stress induced by compounds in Fava beans (thought to be vicine and isouramil). The same underlying defect can make affected persons susceptible to hemolysis induced by a number of mediciations.
synonym: "Fava bean-induced hemolytic anaemia" EXACT uk_spelling []
synonym: "Hemolytic anaemia following ingestion of fava beans" EXACT uk_spelling []
synonym: "Hemolytic anemia following ingestion of fava beans" EXACT []
xref: UMLS:C4021648
is_a: HP:0001878 ! Hemolytic anemia

[Term]
id: HP:0004817
name: Drug-sensitive hemolytic anemia
def: "A form of hemolytic anemia that is triggered by ingestion of certain drugs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Drug-sensitive hemolytic anaemia" EXACT uk_spelling []
xref: UMLS:C4025289
is_a: HP:0001878 ! Hemolytic anemia

[Term]
id: HP:0004818
name: Paroxysmal nocturnal hemoglobinuria
synonym: "Paroxysmal nocturnal haemoglobinuria" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:1963002
xref: UMLS:C0024790
is_a: HP:0003641 ! Hemoglobinuria

[Term]
id: HP:0004819
name: Normocytic hypoplastic anemia
def: "A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Normocytic hypoplastic anaemia" EXACT uk_spelling []
xref: UMLS:C1835875
is_a: HP:0001908 ! Hypoplastic anemia

[Term]
id: HP:0004820
name: Acute myelomonocytic leukemia
def: "An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors." [NCIT:C7463]
synonym: "Acute myelomonocytic leukaemia" EXACT uk_spelling []
xref: SNOMEDCT_US:110005000
xref: SNOMEDCT_US:277601005
xref: SNOMEDCT_US:30962008
xref: UMLS:C0023479
is_a: HP:0002488 ! Acute leukemia
is_a: HP:0012324 ! Myeloid leukemia

[Term]
id: HP:0004821
name: Hypersegmentation of neutrophil nuclei
def: "An excessive division of the lobes of the nucleus of a neutrophil." [https://orcid.org/0000-0002-0736-9199]
comment: Neutrophils usually display 3-4 nuclear lobes. Hypersegmented neutrophile nuclei display 5 or more lobes. This feature can be seen in vitamin B12 or folate deficiency or with other etiologies.
synonym: "Hypermature neutrophils" EXACT []
synonym: "Hypersegmentation of neutrophil nuclei in peripheral blood" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-8169-9049]
xref: UMLS:C4025288
is_a: HP:0011992 ! Abnormal neutrophil morphology

[Term]
id: HP:0004822
name: Atypical elliptocytosis
xref: UMLS:C1857010
is_a: HP:0004445 ! Elliptocytosis

[Term]
id: HP:0004823
name: Anisopoikilocytosis
def: "A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C2675920
is_a: HP:0004447 ! Poikilocytosis

[Term]
id: HP:0004825
name: Increased hemoglobin oxygen affinity
def: "An abnormal increase in the binding affinity of hemoglobin for oxygen." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased haemoglobin O2 affinity" EXACT uk_spelling []
synonym: "Increased Hb O2 affinity" EXACT abbreviation []
synonym: "Increased Hb oxygen affinity" EXACT abbreviation []
synonym: "Increased hemoglobin O2 affinity" EXACT abbreviation []
synonym: "Increased hemoglobin oxygen affinity" EXACT []
xref: UMLS:C4021647
is_a: HP:0020054 ! Abnormal erythrocyte physiology

[Term]
id: HP:0004826
name: Folate-unresponsive megaloblastic anemia
def: "A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Folate-unresponsive megaloblastic anaemia" EXACT uk_spelling []
xref: UMLS:C4025287
is_a: HP:0001889 ! Megaloblastic anemia

[Term]
id: HP:0004828
name: Refractory anemia with ringed sideroblasts
def: "A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts." [https://orcid.org/0000-0002-0736-9199]
synonym: "Myelodysplasia with sideroblastosis" EXACT []
synonym: "Refractory anaemia with ringed sideroblasts" EXACT uk_spelling []
xref: ICD-O:M9982/3 "Refractory anemia with ringed sideroblasts"
xref: SNOMEDCT_US:109998009
xref: SNOMEDCT_US:128846006
xref: UMLS:C1264195
is_a: HP:0012130 ! Abnormal erythroid lineage cell morphology
is_a: HP:0012150 ! Single lineage myelodysplasia

[Term]
id: HP:0004831
name: Recurrent thromboembolism
def: "Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream." [https://orcid.org/0000-0002-0736-9199]
synonym: "Recurrent thromboembolic disease" RELATED []
xref: UMLS:C0749398
xref: UMLS:C4025286
is_a: HP:0001907 ! Thromboembolism

[Term]
id: HP:0004835
name: Microspherocytosis
def: "The presence of erythrocytes that are sphere-shaped and reduced in size." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025285
is_a: HP:0004444 ! Spherocytosis

[Term]
id: HP:0004836
name: Acute promyelocytic leukemia
def: "A type of acute myeloid leukemia in which abnormal promyelocytes predominate." [https://orcid.org/0000-0002-0736-9199]
synonym: "Acute promyelocytic leukaemia" EXACT uk_spelling []
xref: SNOMEDCT_US:110004001
xref: SNOMEDCT_US:28950004
xref: UMLS:C0023487
is_a: HP:0002488 ! Acute leukemia

[Term]
id: HP:0004839
name: Pyropoikilocytosis
alt_id: HP:0004805
def: "A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn." [https://orcid.org/0000-0002-0736-9199, PMID:16304353]
synonym: "hereditary pyropoikilocytosis" EXACT []
xref: SNOMEDCT_US:9434008
xref: UMLS:C0520739
is_a: HP:0004447 ! Poikilocytosis

[Term]
id: HP:0004840
name: Hypochromic microcytic anemia
alt_id: HP:0004842
def: "A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypochromic microcytic anaemia" EXACT uk_spelling []
synonym: "Hypochromic, microcytic anaemia" EXACT uk_spelling []
synonym: "Hypochromic, microcytic anemia" EXACT []
xref: SNOMEDCT_US:44666001
xref: UMLS:C0271901
is_a: HP:0001931 ! Hypochromic anemia
is_a: HP:0001935 ! Microcytic anemia

[Term]
id: HP:0004841
name: Reduced factor XII activity
alt_id: HP:0005514
alt_id: HP:0005551
alt_id: HP:0008286
def: "Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade." [https://orcid.org/0000-0002-0736-9199]
synonym: "Factor XII deficiency" EXACT []
synonym: "Hageman factor deficiency" EXACT []
xref: SNOMEDCT_US:46981006
xref: UMLS:C0015526
is_a: HP:0010989 ! Abnormality of the intrinsic pathway

[Term]
id: HP:0004844
name: Coombs-positive hemolytic anemia
alt_id: HP:0003539
def: "A type of hemolytic anemia in which the Coombs test is positive." [https://orcid.org/0000-0002-0736-9199]
comment: The Coombs test measures a coating of immunoglobulin or complement on the red cell surface.
synonym: "Coombs-positive hemolytic anaemia" EXACT uk_spelling []
synonym: "Direct Coombs positive" EXACT []
xref: SNOMEDCT_US:74789008
xref: UMLS:C0520736
is_a: HP:0001878 ! Hemolytic anemia

[Term]
id: HP:0004845
name: Acute monocytic leukemia
alt_id: HP:0004833
def: "The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation." [PMID:24904835]
synonym: "Acute monoblastic leukaemia" EXACT uk_spelling []
synonym: "Acute monoblastic leukemia" EXACT []
synonym: "Acute monocytic leukaemia" EXACT uk_spelling []
synonym: "AML-M5" EXACT abbreviation []
synonym: "AMoL" EXACT abbreviation []
xref: SNOMEDCT_US:22331004
xref: SNOMEDCT_US:413441006
xref: UMLS:C0023465
is_a: HP:0002488 ! Acute leukemia

[Term]
id: HP:0004846
name: Prolonged bleeding after surgery
def: "Bleeding that persists longer than the normal time following a surgical procedure." [https://orcid.org/0000-0002-0736-9199]
synonym: "Excessive bleeding during surgery" EXACT layperson []
synonym: "Prolonged bleeding after surgery" EXACT layperson []
synonym: "Protracted bleeding after surgery" EXACT layperson []
xref: UMLS:C4021646
is_a: HP:0011890 ! Prolonged bleeding following procedure

[Term]
id: HP:0004848
name: Ph-positive acute lymphoblastic leukemia
def: "A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity." [PMID:21472706]
synonym: "Ph-positive acute lymphoblastic leukaemia" EXACT uk_spelling []
synonym: "Philadelphia-positive acute lymphoblastic leukaemia" EXACT uk_spelling []
synonym: "Philadelphia-positive acute lymphoblastic leukemia" EXACT []
xref: SNOMEDCT_US:425688002
xref: SNOMEDCT_US:426955004
xref: UMLS:C1960397
is_a: HP:0006721 ! Acute lymphoblastic leukemia

[Term]
id: HP:0004850
name: Recurrent deep vein thrombosis
def: "Repeated episodes of the formation of a blot clot in a deep vein." [https://orcid.org/0000-0002-0736-9199]
synonym: "Recurrent deep vein blood clot" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Recurrent venous thrombosis" EXACT []
xref: SNOMEDCT_US:710167004
xref: UMLS:C1735901
is_a: HP:0002625 ! Deep venous thrombosis

[Term]
id: HP:0004851
name: Folate-responsive megaloblastic anemia
def: "A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate." [https://orcid.org/0000-0002-0736-9199]
synonym: "Folate-responsive megaloblastic anaemia" EXACT uk_spelling []
xref: UMLS:C2749656
is_a: HP:0001889 ! Megaloblastic anemia

[Term]
id: HP:0004852
name: Reduced leukocyte alkaline phosphatase
def: "Decreased alkaline phosphatase measured within leukocytes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Low leukocyte alkaline phosphatase" EXACT []
synonym: "Reduced leukocyte ALP" EXACT abbreviation []
xref: UMLS:C1850780
is_a: HP:0003282 ! Decreased circulating alkaline phosphatase activity

[Term]
id: HP:0004854
name: Intermittent thrombocytopenia
def: "Reduced platelet count that occurs sporadically, i.e., it comes and goes." [https://orcid.org/0000-0002-0736-9199, PMID:8384898]
xref: UMLS:C1839167
is_a: HP:0001873 ! Thrombocytopenia

[Term]
id: HP:0004855
name: Reduced protein S activity
def: "An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C." [https://orcid.org/0000-0002-0736-9199]
comment: Protein S functions as a cofactor to Protein C in the inactivation of Factors Va and VIIIa in the coagulation pathway. Therefore, a defect in protein S is associated with an increased risk of thrombosis.
synonym: "Protein S deficiency" NARROW []
xref: SNOMEDCT_US:1563006
xref: UMLS:C0242666
xref: UMLS:C4025284
is_a: HP:0030780 ! Abnormality of the protein C anticoagulant pathway

[Term]
id: HP:0004856
name: Normochromic microcytic anemia
def: "A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Normochromic microcytic anaemia" EXACT uk_spelling []
xref: SNOMEDCT_US:4984008
xref: UMLS:C0271902
is_a: HP:0001935 ! Microcytic anemia

[Term]
id: HP:0004857
name: Hyperchromic macrocytic anemia
def: "A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of hemoglobin." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hyperchromic macrocytic anaemia" EXACT uk_spelling []
xref: UMLS:C3854594
is_a: HP:0001972 ! Macrocytic anemia

[Term]
id: HP:0004859
name: Amegakaryocytic thrombocytopenia
def: "Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:234482009
xref: UMLS:C0398639
is_a: HP:0001873 ! Thrombocytopenia

[Term]
id: HP:0004860
name: Thiamine-responsive megaloblastic anemia
def: "A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Thiamine-responsive megaloblastic anaemia" EXACT uk_spelling []
xref: SNOMEDCT_US:12907000
xref: UMLS:C0271972
is_a: HP:0001889 ! Megaloblastic anemia

[Term]
id: HP:0004861
name: Refractory macrocytic anemia
synonym: "Refractory macrocytic anaemia" EXACT uk_spelling []
xref: UMLS:C2675059
is_a: HP:0001972 ! Macrocytic anemia

[Term]
id: HP:0004863
name: Compensated hemolytic anemia
synonym: "Compensated hemolytic anaemia" EXACT uk_spelling []
xref: UMLS:C4025283
is_a: HP:0001878 ! Hemolytic anemia

[Term]
id: HP:0004864
name: Elevated bone marrow ring sideroblast count
def: "Count of ring sideroblasts in the bone marrow above the upper limit of normal. Ring sideroblasts are nucleated erythroblasts with a pathologic accumulation of iron granules in the mitochondrial matrix. They can be detected by Prussian blue staining as blue perinuclear aggregates in bone marrow aspirate erythroblasts." [https://orcid.org/0000-0002-0736-9199, PMID:30725758, PMID:33061728]
comment: Sideroblastic anemia includes a group of inherited and acquired anemias of ineffective erythropoiesis characterized by an accumulation of ring sideroblasts in the bone marrow and decreased production of mature red blood cells. Additionally, refractory anemia with ring sideroblasts is a type of myelodysplastic syndrome that is characterized by anemia and the presence of at least 15 percent ring sideroblasts in the marrow.
synonym: "Refractory sideroblastic anaemia" EXACT uk_spelling []
xref: SNOMEDCT_US:41841004
xref: UMLS:C0002896
is_a: HP:0012130 ! Abnormal erythroid lineage cell morphology

[Term]
id: HP:0004866
name: Impaired ADP-induced platelet aggregation
def: "Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP." [https://orcid.org/0000-0002-0736-9199, PMID:11413156]
xref: UMLS:C4025282
is_a: HP:0003540 ! Impaired platelet aggregation

[Term]
id: HP:0004870
name: Chronic hemolytic anemia
alt_id: HP:0004815
def: "An chronic form of hemolytic anemia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Chronic hemolytic anaemia" EXACT uk_spelling []
synonym: "hemolytic anemia, chronic" EXACT []
xref: SNOMEDCT_US:707480001
xref: UMLS:C1387532
is_a: HP:0001878 ! Hemolytic anemia

[Term]
id: HP:0004871
name: Perineal fistula
def: "The presence of a fistula between the bowel and the perineum." [https://orcid.org/0000-0002-0736-9199]
comment: The perineum is the diamond-shaped region of the body between the pubic arch and the anus.
xref: SNOMEDCT_US:284077005
xref: UMLS:C0561921
is_a: HP:0100589 ! Urogenital fistula

[Term]
id: HP:0004872
name: Incisional hernia
def: "An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound." [https://orcid.org/0000-0002-0736-9199]
synonym: "Recurrent abdominal hernia" EXACT []
xref: SNOMEDCT_US:236037000
xref: SNOMEDCT_US:241556001
xref: UMLS:C0267716
xref: UMLS:C4021645
is_a: HP:0004299 ! Hernia of the abdominal wall

[Term]
id: HP:0004875
name: Neonatal inspiratory stridor
xref: UMLS:C4025281
is_a: HP:0002643 ! Neonatal respiratory distress
is_a: HP:0005348 ! Inspiratory stridor

[Term]
id: HP:0004876
name: Spontaneous neonatal pneumothorax
def: "Pneumothorax occurring neonatally without traumatic injury to the chest or lung." [https://orcid.org/0000-0002-0736-9199]
synonym: "Neonatal pneumothorax" EXACT []
xref: UMLS:C1857021
is_a: HP:0002108 ! Spontaneous pneumothorax

[Term]
id: HP:0004878
name: Intercostal muscle weakness
def: "Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall." [https://orcid.org/0000-0002-0736-9199]
synonym: "Dependence on diaphragmatic breathing" RELATED []
synonym: "Muscle weakness between ribs" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C0240017
is_a: HP:0001324 ! Muscle weakness
is_a: HP:0002093 ! Respiratory insufficiency

[Term]
id: HP:0004879
name: Intermittent hyperventilation
def: "Episodic hyperventilation." [https://orcid.org/0000-0002-0736-9199]
synonym: "Episodic hyperventilation" EXACT []
synonym: "Intermittent overbreathing" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:423427003
xref: UMLS:C1828017
is_a: HP:0002883 ! Hyperventilation

[Term]
id: HP:0004880
name: Respiratory infections in early life
def: "Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections." []
xref: UMLS:C4025280
is_a: HP:0002205 ! Recurrent respiratory infections

[Term]
id: HP:0004881
name: Episodic hypoventilation
synonym: "Episodic slow breathing" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Episodic under breathing" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1844946
is_a: HP:0002791 ! Hypoventilation

[Term]
id: HP:0004885
name: Episodic respiratory distress
synonym: "Episodic difficulty breathing" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "respiratory distress, episodic" EXACT []
xref: UMLS:C1844945
is_a: HP:0002098 ! Respiratory distress

[Term]
id: HP:0004886
name: Congenital laryngeal stridor
xref: SNOMEDCT_US:55490007
xref: UMLS:C0265763
is_a: HP:0005348 ! Inspiratory stridor

[Term]
id: HP:0004887
name: Respiratory failure requiring assisted ventilation
alt_id: HP:0004883
def: "A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation." [https://orcid.org/0000-0002-7440-8864, PMID:18710593, PMID:28620428]
synonym: "Respiratory distress necessitating mechanical ventilation" EXACT []
synonym: "Respiratory distress requiring endotracheal intubation" EXACT []
synonym: "Respiratory distress requiring mechanical ventilation" EXACT []
xref: UMLS:C4025279
is_a: HP:0002093 ! Respiratory insufficiency

[Term]
id: HP:0004889
name: Intermittent episodes of respiratory insufficiency due to muscle weakness
xref: UMLS:C3807025
is_a: HP:0002747 ! Respiratory insufficiency due to muscle weakness

[Term]
id: HP:0004890
name: Elevated pulmonary artery pressure
alt_id: HP:0004958
def: "An abnormally elevated blood pressure in the circulation of the pulmonary artery." [https://orcid.org/0000-0002-0736-9199]
synonym: "Elevated lung artery pressure" EXACT []
synonym: "increased pulmonary artery pressure" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C3805917
is_a: HP:0030875 ! Abnormality of pulmonary circulation

[Term]
id: HP:0004891
name: Recurrent infections due to aspiration
def: "Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration." []
xref: UMLS:C3806285
is_a: HP:0002205 ! Recurrent respiratory infections

[Term]
id: HP:0004894
name: Laryngotracheal stenosis
xref: UMLS:C3806280
is_a: HP:0001602 ! Laryngeal stenosis
is_a: HP:0002777 ! Tracheal stenosis

[Term]
id: HP:0004897
name: Stress/infection-induced lactic acidosis
def: "A form of lactic acidemia that occurs in relation to stress or infection." [https://orcid.org/0000-0002-0736-9199]
synonym: "Metabolic crises during febrile infections" RELATED []
xref: UMLS:C4025278
is_a: HP:0003128 ! Lactic acidosis

[Term]
id: HP:0004898
name: Persistent lactic acidosis
def: "A continuous form of lactic acidemia." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C3554538
is_a: HP:0003128 ! Lactic acidosis

[Term]
id: HP:0004900
name: Severe lactic acidosis
def: "A severe form of lactic acidemia." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1839436
is_a: HP:0003128 ! Lactic acidosis

[Term]
id: HP:0004901
name: Exercise-induced lactic acidemia
def: "A form of lactic acidemia that occurs following exercise or exertion." [https://orcid.org/0000-0002-0736-9199, PMID:15308499]
synonym: "Exercise-induced lactic acidosis" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4025277
is_a: HP:0003128 ! Lactic acidosis

[Term]
id: HP:0004902
name: Congenital lactic acidosis
def: "A form of lactic acidemia with congenital onset." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025276
is_a: HP:0003128 ! Lactic acidosis

[Term]
id: HP:0004904
name: Maturity-onset diabetes of the young
def: "The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistance, and lack of evidence of autoimmune destruction of the beta cells." [https://orcid.org/0000-0002-0736-9199]
synonym: "Maturity onset diabetes of the young" EXACT []
synonym: "MODY" RELATED abbreviation [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:609561005
xref: UMLS:C0342276
is_a: HP:0000819 ! Diabetes mellitus

[Term]
id: HP:0004905
name: Reduced circulating vitamin A concentration
def: "Concentration of vitamin A below the lower limit of normal in the blood circulation." []
synonym: "Low levels of vitamin A" EXACT []
synonym: "Vitamin A deficiency" EXACT layperson []
xref: SNOMEDCT_US:72000004
xref: UMLS:C0042842
is_a: HP:0008372 ! Abnormal circulating vitamin A concentration

[Term]
id: HP:0004906
name: Hypernatremic dehydration
xref: SNOMEDCT_US:427784006
xref: UMLS:C1850544
is_a: HP:0001986 ! Hypertonic dehydration

[Term]
id: HP:0004909
name: Hypokalemic hypochloremic metabolic alkalosis
xref: UMLS:C0740896
is_a: HP:0001960 ! Hypokalemic metabolic alkalosis
is_a: HP:0005977 ! Hypochloremic metabolic alkalosis

[Term]
id: HP:0004910
name: Bicarbonate-wasting renal tubular acidosis
synonym: "HCO3-wasting renal tubular acidosis" EXACT abbreviation []
synonym: "Renal bicarbonate wasting" EXACT []
xref: UMLS:C1858626
is_a: HP:0001947 ! Renal tubular acidosis

[Term]
id: HP:0004911
name: Episodic metabolic acidosis
alt_id: HP:0005963
def: "Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids." [https://orcid.org/0000-0002-0736-9199]
synonym: "Recurrent episodes of acidosis" EXACT []
xref: UMLS:C1859516
is_a: HP:0001942 ! Metabolic acidosis

[Term]
id: HP:0004912
name: Hypophosphatemic rickets
xref: SNOMEDCT_US:66266003
xref: UMLS:C1704375
is_a: HP:0002148 ! Hypophosphatemia
is_a: HP:0002748 ! Rickets

[Term]
id: HP:0004913
name: Intermittent lactic acidemia
def: "An intermittent (discontinuous) form of lactic acidemia." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1844917
is_a: HP:0003128 ! Lactic acidosis

[Term]
id: HP:0004914
name: Recurrent infantile hypoglycemia
alt_id: HP:0004917
def: "Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period." [https://orcid.org/0000-0002-0736-9199]
synonym: "Episodic infantile hypoglycemia" EXACT []
synonym: "Recurrent low blood sugar in infant" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4021644
is_a: HP:0001988 ! Recurrent hypoglycemia

[Term]
id: HP:0004915
name: Impairment of galactose metabolism
def: "An impairment of galactose metabolism." [https://orcid.org/0000-0002-0736-9199]
synonym: "Impaired galactose metabolism" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C4021643
is_a: HP:0032245 ! Abnormal metabolism

[Term]
id: HP:0004916
name: Generalized distal tubular acidosis
synonym: "Generalised distal tubular acidosis" EXACT uk_spelling []
xref: UMLS:C4025275
is_a: HP:0008341 ! Distal renal tubular acidosis

[Term]
id: HP:0004918
name: Hyperchloremic metabolic acidosis
def: "A form of metabolic acidosis with increased serum chloride levels." [PMID:31418093]
synonym: "Non-gap acidosis" EXACT []
xref: UMLS:C1969073
is_a: HP:0001942 ! Metabolic acidosis
is_a: HP:0001995 ! Hyperchloremic acidosis

[Term]
id: HP:0004919
name: Galactose intolerance
xref: SNOMEDCT_US:190745006
xref: SNOMEDCT_US:190749000
xref: UMLS:C0016952
is_a: HP:0004915 ! Impairment of galactose metabolism

[Term]
id: HP:0004920
name: Phenylpyruvic acidemia
xref: UMLS:C1849926
is_a: HP:0032368 ! Acidemia

[Term]
id: HP:0004921
name: Abnormal magnesium concentration
alt_id: HP:0008274
def: "An abnormality of magnesium ion homeostasis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal magnesium metabolism" RELATED []
synonym: "Abnormal Mg concentration" EXACT abbreviation []
synonym: "Abnormality of magnesium homeostasis" EXACT []
xref: UMLS:C4020826
xref: UMLS:C4025274
is_a: HP:0010927 ! Abnormal blood inorganic cation concentration

[Term]
id: HP:0004922
name: Atypical hyperphenylalaninemia
xref: UMLS:C4025273
is_a: HP:0010893 ! Abnormal circulating phenylalanine concentration

[Term]
id: HP:0004923
name: Hyperphenylalaninemia
def: "An increased concentration of L-phenylalanine in the blood." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:68528007
xref: UMLS:C0751435
is_a: HP:0010893 ! Abnormal circulating phenylalanine concentration

[Term]
id: HP:0004924
name: Abnormal oral glucose tolerance
def: "An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal glucose oral tolerance test" EXACT []
xref: UMLS:C1847425
is_a: HP:0040270 ! Impaired glucose tolerance

[Term]
id: HP:0004925
name: Chronic lactic acidosis
alt_id: HP:0004899
def: "A chronic form of lactic acidemia." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1839437
is_a: HP:0003128 ! Lactic acidosis
is_a: HP:0012468 ! Chronic acidosis

[Term]
id: HP:0004926
name: Orthostatic hypotension due to autonomic dysfunction
xref: UMLS:C1868528
is_a: HP:0001278 ! Orthostatic hypotension

[Term]
id: HP:0004927
name: Pulmonary artery dilatation
def: "An abnormal widening of the diameter of the pulmonary artery." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:251047005
xref: UMLS:C0428851
is_a: HP:0030966 ! Abnormal pulmonary artery morphology

[Term]
id: HP:0004928
name: obsolete Peripheral arterial stenosis
is_obsolete: true
replaced_by: HP:0004950

[Term]
id: HP:0004929
name: obsolete Coronary atherosclerosis
is_obsolete: true
replaced_by: HP:0001677

[Term]
id: HP:0004930
name: Abnormality of the pulmonary vasculature
synonym: "Abnormality of the lung blood vessels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025271
is_a: HP:0002088 ! Abnormal lung morphology
is_a: HP:0002597 ! Abnormality of the vasculature
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-26T04:07:00Z

[Term]
id: HP:0004931
name: Arteriosclerosis of small cerebral arteries
def: "Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hardened artery wall in small cerebral arteries" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025270
xref: UMLS:C4280505
is_a: HP:0002634 ! Arteriosclerosis
is_a: HP:0009145 ! Abnormal cerebral artery morphology

[Term]
id: HP:0004933
name: Ascending aortic dissection
def: "A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space." [https://orcid.org/0000-0002-0736-9199]
comment: According to the Stanford classification, type A aortic dissection affects the ascending aorta and arch.
synonym: "Type A aortic dissection" EXACT []
xref: UMLS:C1836653
is_a: HP:0002647 ! Aortic dissection
is_a: HP:0031784 ! Abnormal ascending aorta morphology

[Term]
id: HP:0004934
name: Vascular calcification
def: "Abnormal calcification of the vasculature." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:237897009
xref: UMLS:C0342649
is_a: HP:0011915 ! Cardiovascular calcification
is_a: HP:0033353 ! Abnormal blood vessel morphology

[Term]
id: HP:0004935
name: Pulmonary artery atresia
def: "A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery." [https://orcid.org/0000-0002-0736-9199]
comment: Pulmonary artery atresia means that unoxygenated blood in the right ventricle can not be effectively pumped into the lung for oxygenation.
synonym: "Atresia of the pulmonary artery" EXACT []
synonym: "Pulmonary atresia" EXACT []
xref: SNOMEDCT_US:10930001
xref: SNOMEDCT_US:204443008
xref: UMLS:C0265908
is_a: HP:0030966 ! Abnormal pulmonary artery morphology

[Term]
id: HP:0004936
name: Venous thrombosis
def: "Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow." [https://orcid.org/0000-0002-0736-9199]
synonym: "Blood clot in vein" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:111293003
xref: UMLS:C0042487
is_a: HP:0001977 ! Abnormal thrombosis

[Term]
id: HP:0004937
name: Pulmonary artery aneurysm
def: "An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:194892009
xref: UMLS:C0155676
is_a: HP:0004927 ! Pulmonary artery dilatation

[Term]
id: HP:0004938
name: Tortuous cerebral arteries
def: "Excessive bending, twisting, and winding of a cerebral artery." [https://orcid.org/0000-0002-0736-9199]
synonym: "Twisted cerebral arteries" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1836791
is_a: HP:0005116 ! Arterial tortuosity
is_a: HP:0009145 ! Abnormal cerebral artery morphology

[Term]
id: HP:0004940
name: Generalized arterial calcification
alt_id: HP:0004967
def: "Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body." [https://orcid.org/0000-0002-0736-9199]
synonym: "Generalised arterial calcification" EXACT uk_spelling []
xref: UMLS:C4025269
is_a: HP:0003207 ! Arterial calcification

[Term]
id: HP:0004941
name: Extrahepatic portal hypertension
def: "Increased pressure in the pre-hepatic portal vein." [https://orcid.org/0000-0002-0736-9199]
comment: Hypertension in the portal venous tree proper. previous def: 'has part' some ('increased pressure' and ('inheres in' some ('arterial blood' and ('part of' some 'Pre-hepatic portal vein (adult human)'))) and ('has modifier' some abnormal))
xref: UMLS:C4025268
is_a: HP:0001409 ! Portal hypertension

[Term]
id: HP:0004942
name: Aortic aneurysm
alt_id: HP:0001724
def: "Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter." []
comment: Aneurysm is considered a severe (pathological) form of dilatation of a segment of a blood vessel. In clinical practice, dilatation and aneurysm are occasionally used interchangeably. In this subhierarchy, we therefore use aneurysm as the primary label and list dilatation as a broad synonym.
synonym: "Aortic dilatation" EXACT []
synonym: "Bulge in wall of large artery that carries blood away from heart" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Enlarged aorta" EXACT layperson []
xref: Fyler:2301
xref: Fyler:2708
xref: SNOMEDCT_US:67362008
xref: UMLS:C0003486
is_a: HP:0001679 ! Abnormal aortic morphology
is_a: HP:0002617 ! Vascular dilatation

[Term]
id: HP:0004943
name: Accelerated atherosclerosis
def: "Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors." [PMID:29040156]
synonym: "Accelerated plaque build-up in arteries" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1849618
xref: UMLS:C4280504
is_a: HP:0002621 ! Atherosclerosis

[Term]
id: HP:0004944
name: Dilatation of the cerebral artery
alt_id: HP:0002618
alt_id: HP:0006816
def: "The presence of a localized dilatation or ballooning of a cerebral artery." [https://orcid.org/0000-0002-0736-9199]
comment: Aneurysm is considered a severe form of dilatation.
synonym: "Brain aneurysm" BROAD layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Cerebral aneurysm" NARROW []
synonym: "Cerebral artery aneurysm" NARROW []
synonym: "Intracranial aneurysm" BROAD []
xref: SNOMEDCT_US:128608001
xref: UMLS:C0751003
xref: UMLS:C1290398
is_a: HP:0002617 ! Vascular dilatation
is_a: HP:0009145 ! Abnormal cerebral artery morphology

[Term]
id: HP:0004945
name: Extracranial internal carotid artery dissection
def: "A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025267
is_a: HP:0005294 ! Arterial dissection
is_a: HP:0012159 ! Internal carotid artery dissection

[Term]
id: HP:0004947
name: Arteriovenous fistula
alt_id: HP:0004946
def: "An abnormal connection between an artery and vein." [https://www.mayoclinic.org/diseases-conditions/arteriovenous-fistula/symptoms-causes/syc-20369567]
synonym: "Arteriovenous fistulas" EXACT []
xref: SNOMEDCT_US:128617001
xref: SNOMEDCT_US:439470001
xref: UMLS:C0003855
is_a: HP:0100026 ! Arteriovenous malformation

[Term]
id: HP:0004948
name: Vascular tortuosity
def: "Abnormal twisting of arteries or veins." [PMID:22433458]
synonym: "Twisted blood vessels" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C2673776
is_a: HP:0033353 ! Abnormal blood vessel morphology

[Term]
id: HP:0004950
name: Peripheral arterial stenosis
alt_id: HP:0004928
alt_id: HP:0004973
alt_id: HP:0005296
alt_id: HP:0005299
alt_id: HP:0005309
alt_id: HP:0005315
alt_id: HP:0005794
def: "Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication." []
comment: The ankle-brachial index (ABI; the ratio of systolic blood pressure in the ankle to that in the arm), is a measure of occlusion of peripheral arteries in the leg. Peripheral arterial stenosis may be observed with atherosclerosis and with increased intima media thickness as seen in diseases such as pseudoxanthoma elasticum. The most common cause of peripheral arterial stenosis in patients over 40 years of age is atherosclerosis. Cerebral and coronary arteries are by definition not included in peripheral artery disease.
synonym: "Arterial disease of legs" RELATED []
synonym: "Occlusive arterial disease" RELATED []
synonym: "Occlusive vascular disease" RELATED []
synonym: "Peripheral artery disease" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Peripheral artery occlusive disease" RELATED []
synonym: "Peripheral vascular disease" RELATED [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:399957001
xref: SNOMEDCT_US:400047006
xref: UMLS:C0085096
xref: UMLS:C1704436
is_a: HP:0100545 ! Arterial stenosis

[Term]
id: HP:0004952
name: Pulmonary arteriovenous fistulas
def: "A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed." [PMID:27122941]
xref: SNOMEDCT_US:111289009
xref: UMLS:C0155675
is_a: HP:0004947 ! Arteriovenous fistula

[Term]
id: HP:0004953
name: obsolete Dilatation of abdominal aorta
is_obsolete: true
replaced_by: HP:0005112

[Term]
id: HP:0004954
name: obsolete Dilatation of the descending aorta
is_obsolete: true
replaced_by: HP:0004959

[Term]
id: HP:0004955
name: Generalized arterial tortuosity
def: "Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries." [https://orcid.org/0000-0002-0736-9199]
synonym: "Arterial tortuosity, general" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Arterial tortuosity, generalised" RELATED uk_spelling []
synonym: "Arterial tortuosity, generalized" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Generalised arterial tortuosity" EXACT uk_spelling []
synonym: "Generalised twisted arteries" EXACT uk_spelling []
synonym: "Generalized twisted arteries" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1836651
xref: UMLS:C3279191
is_a: HP:0005116 ! Arterial tortuosity

[Term]
id: HP:0004959
name: Descending thoracic aorta aneurysm
alt_id: HP:0004954
def: "An abnormal localized widening (dilatation) of the descending thoracic aorta." []
synonym: "Dilatation of the descending thoracic aorta" BROAD []
xref: Fyler:2754
xref: UMLS:C4025266
is_a: HP:0012727 ! Thoracic aortic aneurysm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-25T06:32:00Z

[Term]
id: HP:0004960
name: Absent pulmonary artery
def: "A congenital defect with aplasia (absence) of one of the right or left pulmonary artery." [https://orcid.org/0000-0002-0736-9199, PMID:17192541]
comment: This is a rare feature that has been observed in recessive lethal osteogenesis imperfecta with mutation in CRTAP.
synonym: "Absent lung artery" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Missing pulmonary artery" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:86252004
xref: UMLS:C0265905
is_a: HP:0030966 ! Abnormal pulmonary artery morphology

[Term]
id: HP:0004961
name: Pulmonary artery sling
def: "An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:16549603, PMID:18458183]
xref: UMLS:C1856123
is_a: HP:0030966 ! Abnormal pulmonary artery morphology

[Term]
id: HP:0004962
name: Thoracic aorta calcification
def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1969292
is_a: HP:0004963 ! Calcification of the aorta

[Term]
id: HP:0004963
name: Calcification of the aorta
def: "Calcification, that is, pathological deposition of calcium salts in the aorta." [https://orcid.org/0000-0002-0736-9199]
comment: Note that the phrase "aortic calcification" is mainly used to describe calcification of the aortic valve rather than of the aorta itself.
xref: UMLS:C1096249
is_a: HP:0001679 ! Abnormal aortic morphology
is_a: HP:0003207 ! Arterial calcification

[Term]
id: HP:0004964
name: Pulmonary arterial medial hypertrophy
alt_id: HP:0004939
def: "Increase in mass of the tunica media of the arteries in the pulmonary circulation." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypertrophy of the pulmonary artery wall" EXACT []
xref: UMLS:C1504382
is_a: HP:0030966 ! Abnormal pulmonary artery morphology

[Term]
id: HP:0004966
name: Medial calcification of large arteries
def: "Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries." [https://orcid.org/0000-0002-0736-9199]
comment: GitHub issue: https://github.com/obophenotype/human-phenotype-ontology/issues/6877
xref: UMLS:C4025265
is_a: HP:0012456 ! Medial arterial calcification

[Term]
id: HP:0004968
name: Recurrent cerebral hemorrhage
def: "Recurrent bleeding into the parenchyma of the brain." [HPO_CONTRIBUTOR:DDD_dbrown]
synonym: "Recurrent cerebral haemorrhage" EXACT uk_spelling []
synonym: "Recurrent hemorrhagic stroke" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4025264
is_a: HP:0001342 ! Cerebral hemorrhage

[Term]
id: HP:0004969
name: Peripheral pulmonary artery stenosis
alt_id: HP:0004957
def: "Stenosis of a peripheral branch of the pulmonary artery." [https://orcid.org/0000-0002-0736-9199]
synonym: "Narrowing of peripheral lung artery" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Occlusion of small pulmonary arteries" RELATED []
synonym: "peripheral pulmonary stenosis" EXACT []
synonym: "Peripheral pulmonic stenosis" EXACT []
xref: SNOMEDCT_US:253631001
xref: UMLS:C0345030
is_a: HP:0004415 ! Pulmonary artery stenosis

[Term]
id: HP:0004970
name: Ascending tubular aorta aneurysm
alt_id: HP:0005111
alt_id: HP:0005128
def: "An abnormal localized widening (dilatation) of the tubular part of the ascending aorta." []
comment: Aneurysm is considered a severe form of dilatation.
synonym: "Aneurysm of the ascending tubular aorta" EXACT []
synonym: "Ascending aorta dilation" BROAD []
synonym: "Ascending aortic aneurysm" EXACT []
synonym: "Ascending aortic dilation" EXACT []
synonym: "Bulging of wall of large artery located above heart" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Dilatation of ascending aorta" EXACT []
xref: Fyler:2310
xref: Fyler:2701
xref: SNOMEDCT_US:253645007
xref: UMLS:C0345049
is_a: HP:0012727 ! Thoracic aortic aneurysm

[Term]
id: HP:0004971
name: Pulmonary artery hypoplasia
def: "Underdevelopment of the pulmonary artery." [https://orcid.org/0000-0002-0736-9199]
synonym: "Underdeveloped lung artery" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Underdeveloped pulmonary artery" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: Fyler:2966
xref: SNOMEDCT_US:54682008
xref: UMLS:C0265910
is_a: HP:0030966 ! Abnormal pulmonary artery morphology

[Term]
id: HP:0004972
name: Elevated mean arterial pressure
def: "An abnormal increase in the average blood pressure in an individual during a single cardiac cycle." [PMID:18451345]
xref: UMLS:C1840376
is_a: HP:0032263 ! Increased blood pressure

[Term]
id: HP:0004974
name: Coarctation of abdominal aorta
def: "Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025263
is_a: HP:0001680 ! Coarctation of aorta

[Term]
id: HP:0004975
name: Erlenmeyer flask deformity of the femurs
alt_id: HP:0006422
def: "Flaring of distal femur." [https://orcid.org/0000-0002-0736-9199]
synonym: "Erlenmeyer flask deformity of distal femur" EXACT []
synonym: "Erlenmeyer flask femora" EXACT []
synonym: "Erlenmeyer flask shaped thighbone" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1855895
is_a: HP:0002823 ! Abnormal femur morphology

[Term]
id: HP:0004976
name: Knee dislocation
alt_id: HP:0006469
synonym: "Dislocations of the knees" EXACT []
synonym: "Knee dislocations" EXACT []
xref: SNOMEDCT_US:58320001
xref: UMLS:C0159970
is_a: HP:0030311 ! Lower extremity joint dislocation
is_a: HP:0034670 ! Abnormal knee physiology

[Term]
id: HP:0004977
name: Bilateral radial aplasia
alt_id: HP:0005870
def: "Missing radius bone on both sides associated with congenital failure of development." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bilateral absence of radius" EXACT []
xref: UMLS:C1848840
is_a: HP:0003974 ! Absent radius

[Term]
id: HP:0004979
name: Metaphyseal sclerosis
def: "Abnormally increased density of metaphyseal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased bone density in wide portion of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Sclerotic metaphyses" EXACT []
xref: UMLS:C3552526
is_a: HP:0000944 ! Abnormal metaphysis morphology

[Term]
id: HP:0004980
name: Metaphyseal rarefaction
def: "Reduction in density of metaphyseal bony tissue." [https://orcid.org/0000-0002-0736-9199]
synonym: "Rarefaction of the metaphyses" EXACT []
xref: UMLS:C1832146
is_a: HP:0000944 ! Abnormal metaphysis morphology

[Term]
id: HP:0004981
name: Prominent styloid process of ulna
xref: UMLS:C4025262
is_a: HP:0004035 ! Abnormal ulnar styloid process morphology

[Term]
id: HP:0004986
name: obsolete Rudimentary to absent fibulae
is_obsolete: true
replaced_by: HP:0006381

[Term]
id: HP:0004987
name: Mesomelic leg shortening
def: "Shortening of the middle parts of the leg in relation to the upper and terminal segments." [https://orcid.org/0009-0006-4530-3154]
synonym: "Mesomelia of the lower limbs" EXACT []
synonym: "Mesomelic lower limb shortening" EXACT []
xref: UMLS:C1969178
is_a: HP:0003027 ! Mesomelia

[Term]
id: HP:0004990
name: Epiphyseal streaking
xref: UMLS:C1858039
is_a: HP:0005930 ! Abnormal epiphysis morphology

[Term]
id: HP:0004991
name: Rhizomelic arm shortening
def: "Disproportionate shortening of the proximal segment of the arm (i.e. the humerus)." [https://orcid.org/0000-0002-0736-9199]
comment: This term implies that the ulna and radius are not substantially shortened.
xref: UMLS:C1969532
is_a: HP:0008905 ! Rhizomelia

[Term]
id: HP:0004993
name: Slender long bones with narrow diaphyses
def: "Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Slender long bones with narrow shaft" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C2675547
is_a: HP:0000940 ! Abnormal diaphysis morphology
is_a: HP:0003100 ! Slender long bone

[Term]
id: HP:0004997
name: Multicentric ossification of proximal humeral epiphyses
xref: UMLS:C1857192
is_a: HP:0003897 ! Irregular ossification of the humeral epiphyses

[Term]
id: HP:0005001
name: Recurrent patellar dislocation
def: "Patellar dislocation occurring repeated times." [https://orcid.org/0000-0002-0736-9199]
synonym: "Recurrent dislocation of patellas" EXACT []
xref: SNOMEDCT_US:202246002
xref: UMLS:C0409412
is_a: HP:0002999 ! Patellar dislocation
is_a: HP:0031869 ! Recurrent joint dislocation

[Term]
id: HP:0005003
name: Aplasia/Hypoplasia of the capital femoral epiphysis
def: "Absence or underdevelopment of the proximal epiphysis of the femur." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small end part of innermost thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped end part of innermost thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025261
is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head
is_a: HP:0010577 ! Absent epiphyses

[Term]
id: HP:0005004
name: Flattened proximal radial epiphyses
def: "An abnormally flat form of the proximal epiphysis of the radius." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1849065
is_a: HP:0004002 ! Flattened radial epiphyses
is_a: HP:0010597 ! Abnormality of the distal radial epiphysis

[Term]
id: HP:0005005
name: Femoral bowing present at birth, straightening with time
def: "Congenital onset bending or abnormal curvature of the femur that normalizes with age." [https://orcid.org/0000-0002-0736-9199]
comment: This feature can be diagnosed based on the medical history of congenital femoral bowing with spontaneous improvement.
synonym: "Bowing of thighbone at birth, straightening with time" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1833754
is_a: HP:0002980 ! Femoral bowing

[Term]
id: HP:0005008
name: Large joint dislocations
synonym: "Large joint dislocations" EXACT layperson []
xref: UMLS:C4025260
is_a: HP:0001373 ! Joint dislocation

[Term]
id: HP:0005009
name: Dumbbell-shaped humerus
def: "The humerus is shortened and displays flaring (widening) of the metaphyses." [https://orcid.org/0000-0002-0736-9199]
synonym: "Dumbbell-shaped long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025259
is_a: HP:0000947 ! Dumbbell-shaped long bone

[Term]
id: HP:0005010
name: Osteomyelitis leading to amputation due to slow healing fractures
xref: UMLS:C1864975
is_a: HP:0002754 ! Osteomyelitis

[Term]
id: HP:0005011
name: Mesomelic arm shortening
alt_id: HP:0005024
alt_id: HP:0006455
def: "Shortening of the middle parts of the arm in relation to the upper and terminal segments." [https://orcid.org/0009-0006-4530-3154]
synonym: "Mesomelia of the upper limbs" EXACT []
synonym: "Upper limb brachymesomelia" EXACT []
xref: UMLS:C1862087
is_a: HP:0003027 ! Mesomelia

[Term]
id: HP:0005013
name: Dysplastic distal radial epiphyses
def: "Abnormally developed (dysplastic) distal epiphysis of the radius." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1862131
is_a: HP:0010597 ! Abnormality of the distal radial epiphysis

[Term]
id: HP:0005017
name: Polyarticular chondrocalcinosis
xref: UMLS:C4025258
is_a: HP:0000934 ! Chondrocalcinosis

[Term]
id: HP:0005019
name: Diaphyseal undertubulation
def: "Tubulation refers to the size and shape of tubular bones. In children and adolescents, the modeling process regulates normal bone growth. Final shaft (tube) diameter depends on appositional bone growth and the equilibrium between periosteal and endosteal bone resorption and formation. Undertubulation refers to a broad, widened form of the shafts (diaphyses) of long bones." []
synonym: "Diaphyseal widening" EXACT []
synonym: "Thickening of shaft or central part of long bones" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Undertubulated long bones" EXACT []
synonym: "Undertubulation of diaphyses" EXACT []
xref: UMLS:C1835473
is_a: HP:0000940 ! Abnormal diaphysis morphology

[Term]
id: HP:0005021
name: Bilateral elbow dislocations
synonym: "Dislocated elbows on both sides" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C3278429
is_a: HP:0003042 ! Elbow dislocation

[Term]
id: HP:0005025
name: Hypoplastic distal humeri
def: "Underdevelopment of the distal portion of the humerus." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1968607
is_a: HP:0006507 ! Aplasia/hypoplasia of the humerus

[Term]
id: HP:0005026
name: Mesomelic/rhizomelic limb shortening
xref: UMLS:C1866239
is_a: HP:0008905 ! Rhizomelia

[Term]
id: HP:0005028
name: Widened proximal tibial metaphyses
synonym: "Wide innermost wide portion of shankbone bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Wide innermost wide portion of shinbone bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1836187
is_a: HP:0003016 ! Metaphyseal widening

[Term]
id: HP:0005033
name: Distal ulnar hypoplasia
alt_id: HP:0006474
def: "Underdevelopment of the distal portion of the ulna." [https://orcid.org/0000-0002-0736-9199]
synonym: "Distal shortening of ulna" EXACT []
synonym: "Hypoplastic distal ulna" EXACT []
xref: UMLS:C1833145
is_a: HP:0003022 ! Hypoplasia of the ulna

[Term]
id: HP:0005035
name: Shortening of all phalanges of the toes
def: "Developmental hypoplasia (shortening) of all phalanges of the foot." [https://orcid.org/0000-0002-0736-9199]
synonym: "Short toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025257
is_a: HP:0001831 ! Short toe
is_a: HP:0010161 ! Abnormal toe phalanx morphology

[Term]
id: HP:0005036
name: Unilateral ulnar hypoplasia
def: "Underdevelopment of the ulna on only one side." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1837832
is_a: HP:0003022 ! Hypoplasia of the ulna

[Term]
id: HP:0005037
name: Proximal radio-ulnar synostosis
def: "An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C2676443
is_a: HP:0002974 ! Radioulnar synostosis

[Term]
id: HP:0005039
name: Multiple long-bone exostoses
def: "Multiple exostoses originating in long bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Multiple exostoses of long tubular bones" EXACT []
xref: UMLS:C1835583
is_a: HP:0002762 ! Multiple exostoses

[Term]
id: HP:0005041
name: Irregular capital femoral epiphysis
alt_id: HP:0008806
def: "Irregular surface of the normally relatively smooth capital femoral epiphysis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular capital femoral epiphyses" RELATED []
synonym: "Irregular end part of innermost thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Irregular proximal femoral epiphyses" EXACT []
xref: UMLS:C4020825
is_a: HP:0006361 ! Irregular femoral epiphysis
is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head

[Term]
id: HP:0005042
name: Irregular, rachitic-like metaphyses
xref: UMLS:C1866700
is_a: HP:0003025 ! Metaphyseal irregularity

[Term]
id: HP:0005043
name: Proximal humeral metaphyseal irregularity
def: "Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular proximal humeral metaphyses" EXACT []
xref: UMLS:C1865128
is_a: HP:0003913 ! Humeral metaphyseal irregularity

[Term]
id: HP:0005045
name: Diaphyseal cortical sclerosis
def: "An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1833739
is_a: HP:0003034 ! Diaphyseal sclerosis

[Term]
id: HP:0005048
name: Synostosis of carpal bones
synonym: "Fusion of wrist bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1836193
is_a: HP:0009702 ! Carpal synostosis

[Term]
id: HP:0005050
name: Anterolateral radial head dislocation
def: "A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Anterior/lateral radial head dislocation" EXACT []
xref: UMLS:C1968610
is_a: HP:0003083 ! Dislocated radial head

[Term]
id: HP:0005054
name: Metaphyseal spurs
alt_id: HP:0005088
def: "Bony outgrowths that extend laterally from the margin of the metaphysis." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1832988
is_a: HP:0000944 ! Abnormal metaphysis morphology

[Term]
id: HP:0005059
name: Arthralgia/arthritis
synonym: "Joint pain/Joint inflammation" EXACT layperson []
xref: UMLS:C4025256
is_a: HP:0001369 ! Arthritis
is_a: HP:0002829 ! Arthralgia

[Term]
id: HP:0005060
name: Limited elbow flexion/extension
xref: UMLS:C1968605
is_a: HP:0001377 ! Limited elbow extension
is_a: HP:0006376 ! Limited elbow flexion

[Term]
id: HP:0005063
name: Fragmented, irregular epiphyses
synonym: "Fragmented, irregular end part of bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1867494
is_a: HP:0010582 ! Irregular epiphyses
is_a: HP:0100168 ! Fragmented epiphyses

[Term]
id: HP:0005066
name: Cone-shaped epiphyses fused within their metaphyses
synonym: "Cone-shaped end part of long bone fused within their wide portion of wide bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025255
is_a: HP:0010579 ! Cone-shaped epiphysis

[Term]
id: HP:0005067
name: Proximal fibular overgrowth
def: "Overgrowth of the proximal part of the fibula." [https://orcid.org/0000-0002-0736-9199]
synonym: "Overgrowth of innermost part of calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C2673395
is_a: HP:0003099 ! Fibular overgrowth

[Term]
id: HP:0005068
name: Absent styloid process of ulna
xref: UMLS:C4025254
is_a: HP:0004035 ! Abnormal ulnar styloid process morphology

[Term]
id: HP:0005069
name: Rhizo-meso-acromelic limb shortening
xref: UMLS:C2673654
is_a: HP:0008905 ! Rhizomelia

[Term]
id: HP:0005070
name: Proximal radial head dislocation
def: "A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1865570
is_a: HP:0003083 ! Dislocated radial head

[Term]
id: HP:0005072
name: Wrist hypermobility
def: "The ability of the wrist joints to move beyond their normal range of motion." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hyperextensibility at wrists" EXACT []
synonym: "Increased laxity of wrists" EXACT []
synonym: "Increased wrist mobility" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1850853
is_a: HP:0430046 ! Small joint hypermobilty

[Term]
id: HP:0005084
name: Anterior radial head dislocation
def: "A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Anterior dislocation of radial head" EXACT []
xref: UMLS:C2674451
is_a: HP:0003083 ! Dislocated radial head

[Term]
id: HP:0005085
name: Limited knee flexion/extension
def: "A limited ability of the knee joint to perform extension and flexion." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1968606
is_a: HP:0010501 ! Limitation of knee mobility

[Term]
id: HP:0005086
name: Knee osteoarthritis
xref: SNOMEDCT_US:239873007
xref: UMLS:C0409959
is_a: HP:0002758 ! Osteoarthritis
is_a: HP:0034669 ! Abnormal knee morphology

[Term]
id: HP:0005089
name: Abnormal metaphyseal trabeculation
alt_id: HP:0006360
def: "An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1857139
is_a: HP:0000944 ! Abnormal metaphysis morphology

[Term]
id: HP:0005090
name: Lateral femoral bowing
alt_id: HP:0005022
def: "A lateral bending or abnormal curvature of the femur." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1866737
is_a: HP:0002980 ! Femoral bowing

[Term]
id: HP:0005092
name: Streaky metaphyseal sclerosis
def: "The presence of streaks (bands) of abnormally increased density of metaphyseal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Streak increase in bone density in wide portion of wide bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025253
is_a: HP:0004979 ! Metaphyseal sclerosis

[Term]
id: HP:0005093
name: Absent proximal radial epiphyses
def: "Absence of the proximal radial epiphysis." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1855301
is_a: HP:0010577 ! Absent epiphyses
is_a: HP:0010596 ! Abnormality of the proximal radial epiphysis

[Term]
id: HP:0005096
name: Distal femoral bowing
def: "A bending or abnormal curvature of the distal portion of the femur." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1860107
is_a: HP:0002980 ! Femoral bowing

[Term]
id: HP:0005099
name: obsolete Severe hydrops fetalis
synonym: "Severe hydrops" EXACT []
is_obsolete: true
replaced_by: HP:0001789

[Term]
id: HP:0005100
name: Premature birth following premature rupture of fetal membranes
synonym: "Premature birth following premature rupture of foetal membranes" EXACT uk_spelling []
xref: UMLS:C1851833
is_a: HP:0001622 ! Premature birth
is_a: HP:0001788 ! Premature rupture of membranes

[Term]
id: HP:0005101
name: High-frequency hearing impairment
alt_id: HP:0008522
alt_id: HP:0008584
alt_id: HP:0008597
def: "A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz)." [https://orcid.org/0000-0002-0736-9199]
comment: High frequency hearing impairment often involves loss of ability to hear consonants such as s, f, t, and z, even though vowels can be heard normally.
synonym: "Hearing loss, high-frequency" EXACT layperson []
synonym: "High frequency hearing loss" EXACT layperson []
synonym: "High-frequency deafness" EXACT []
synonym: "Progressive high frequency hearing loss" EXACT layperson []
synonym: "Progressive high-frequency hearing loss" EXACT []
xref: SNOMEDCT_US:232326009
xref: SNOMEDCT_US:48758008
xref: UMLS:C0018780
is_a: HP:0000365 ! Hearing impairment
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-25T05:03:00Z

[Term]
id: HP:0005102
name: Cochlear degeneration
alt_id: HP:0008156
def: "Deterioration or loss of the tissues of the cochlea." [https://orcid.org/0000-0002-0736-9199]
synonym: "Progressive cochlear degeneration" EXACT []
xref: UMLS:C1849095
is_a: HP:0000375 ! Abnormal cochlea morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-25T05:06:00Z

[Term]
id: HP:0005103
name: Calcification of the auricular cartilage
alt_id: HP:0008549
def: "Ossification affecting the external ear cartilage." [https://orcid.org/0000-0002-0736-9199, PMID:15523361, PMID:23259082]
synonym: "Cartilaginous ossification of pinnae" EXACT []
synonym: "Ear cartilage calcification" RELATED []
synonym: "Ossification of pinnae" EXACT []
synonym: "Petrified ear" EXACT []
xref: UMLS:C1408806
is_a: HP:0000377 ! Abnormal pinna morphology
is_a: HP:0100593 ! Calcification of cartilage
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-25T05:09:00Z

[Term]
id: HP:0005104
name: Hypoplastic nasal septum
def: "Underdevelopment of the nasal septum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased size of nasal septum" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of septum of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplasia of septum of nose" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Small nasal septum" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Small septum of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1861328
is_a: HP:0009935 ! Aplasia/Hypoplasia of the nasal septum
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-25T05:15:00Z

[Term]
id: HP:0005105
name: Abnormal nasal morphology
comment: This is a category for overall abnormal morphology that may be replaced later with more exact descriptions.
synonym: "Abnormal nose morphology" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormal of morphology of nose" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormal of nasal shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormal of shape of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: Fyler:4870
xref: UMLS:C4025252
is_a: HP:0000366 ! Abnormality of the nose
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-25T05:21:00Z

[Term]
id: HP:0005106
name: Abnormality of the vertebral endplates
def: "Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral disks." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025251
is_a: HP:0003312 ! Abnormal form of the vertebral bodies
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-25T06:01:00Z

[Term]
id: HP:0005107
name: Abnormal sacrum morphology
def: "An abnormality of the sacral bone." [https://orcid.org/0000-0002-0736-9199]
comment: The sacrum is the large, roughly triangular bone at the base of the verterbal column that is formed by fusion of the five sacral vertebrae S1 to S5.
subset: hposlim_core
synonym: "Abnormality of the sacrum" EXACT []
xref: UMLS:C4025250
is_a: HP:0000925 ! Abnormality of the vertebral column
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-25T06:03:00Z

[Term]
id: HP:0005108
name: Abnormal intervertebral disk morphology
def: "Any structural abnormality of the intervertebral disk." [https://orcid.org/0000-0002-0736-9199]
comment: Any abnormality of the fibrocartilaginous structures that are located between adjacent vertebral bodies.
subset: hposlim_core
synonym: "Abnormality of the intervertebral disc" EXACT uk_spelling []
synonym: "Abnormality of the intervertebral disk" EXACT []
xref: UMLS:C4025249
is_a: HP:0000925 ! Abnormality of the vertebral column
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-25T06:05:00Z

[Term]
id: HP:0005109
name: Abnormality of the Achilles tendon
def: "An abnormality of the Achilles tendon." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the Achilles tendon" EXACT layperson []
synonym: "Abnormality of the calcaneal tendon" EXACT []
xref: UMLS:C4021642
is_a: HP:0001760 ! Abnormal foot morphology
is_a: HP:0100261 ! Abnormal tendon morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-25T06:21:00Z

[Term]
id: HP:0005110
name: Atrial fibrillation
alt_id: HP:0001715
alt_id: HP:0005179
def: "An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute." [https://orcid.org/0000-0002-0736-9199]
comment: The ventricular response to atrial fibrillation is irregularly irregular because of the large number of atrial impulses that transit the atrioventricular node, making the ventricle partially refractory to further impulses. Atrial fibrillation can cause a number of manifestations including excessive ventricular response with angina pectoris or hypotension in susceptible individuals, syncope, systemic embolization, fatigue, or anxiety. These features should be coded separately.
synonym: "Quivering upper heart chambers resulting in irregular heartbeat" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:49436004
xref: UMLS:C0004238
is_a: HP:0001692 ! Atrial arrhythmia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-25T06:29:00Z

[Term]
id: HP:0005111
name: obsolete Dilatation of the ascending aorta
is_obsolete: true
replaced_by: HP:0004970

[Term]
id: HP:0005112
name: Abdominal aortic aneurysm
alt_id: HP:0004953
def: "An abnormal localized widening (dilatation) of the abdominal aorta." []
synonym: "Dilatation of the abdominal aorta" BROAD []
xref: UMLS:C4025248
is_a: HP:0004942 ! Aortic aneurysm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-25T06:33:00Z

[Term]
id: HP:0005113
name: Aortic arch aneurysm
alt_id: HP:0004965
def: "An abnormal localized widening (dilatation) of the aortic arch." []
synonym: "Aortic arch dilatation" BROAD []
synonym: "Dilatation of the aortic arch" BROAD []
xref: Fyler:2706
xref: UMLS:C1851119
is_a: HP:0012727 ! Thoracic aortic aneurysm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-25T06:34:00Z

[Term]
id: HP:0005114
name: obsolete Abnormalities of the peripheral arteries
is_obsolete: true
replaced_by: HP:0011004

[Term]
id: HP:0005115
name: Supraventricular arrhythmia
def: "A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm." [https://orcid.org/0000-0002-0736-9199]
comment: Supraventricular arrhythmia includes atrial arrhythmias (atrial tachycardia, atrial flutter, atrial fibrillation), atrioventricular nodal reentrant tachycardia, junctional ectopic tachycardia, atrioventricular reentrant tachycardia (Wolf-Parkinson-White Syndrome), orthodromic or antidromic. Supraventricular arrhythmia is distinct from ventricular tachycardia, which originates in the ventricles.
synonym: "Supraventricular arrhythmias" EXACT plural_form [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:72654001
xref: UMLS:C0428974
is_a: HP:0011675 ! Arrhythmia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-25T06:37:00Z

[Term]
id: HP:0005116
name: Arterial tortuosity
def: "Abnormal tortuous (i.e., twisted) form of arteries." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C3279191
is_a: HP:0004948 ! Vascular tortuosity
is_a: HP:0011004 ! Abnormal systemic arterial morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-25T06:39:00Z

[Term]
id: HP:0005117
name: Elevated diastolic blood pressure
def: "Abnormal increase in diastolic blood pressure." [https://orcid.org/0000-0002-0736-9199]
comment: Normal diastolic blood pressure is less than 80 mmHg.
synonym: "Elevated diastolic BP" EXACT abbreviation []
xref: UMLS:C1840375
is_a: HP:0032263 ! Increased blood pressure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-25T06:43:00Z

[Term]
id: HP:0005120
name: Abnormal cardiac atrium morphology
def: "Any structural abnormality of a cardiac atrium." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of cardiac atrium morphology" EXACT []
synonym: "Abnormality of heart atrium" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025246
is_a: HP:0001627 ! Abnormal heart morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-26T04:12:00Z

[Term]
id: HP:0005121
name: Posterior scalloping of vertebral bodies
alt_id: HP:0004572
alt_id: HP:0004579
def: "An excessive concavity of the posterior surface of one or more vertebral bodies." [https://orcid.org/0000-0002-0736-9199]
comment: The posterior vertebral scalloping sign appears on a lateral radiograph of the spine as an exaggeration of the normal concavity of the posterior surface of one or more vertebral bodies. Neurofibromatosis may be associated with marked scalloping of the posterior borders of the vertebral bodies resulting from intraspinal tumors.
synonym: "Posterior vertebral body scalloping" EXACT []
xref: UMLS:C1850196
is_a: HP:0004586 ! Biconcave vertebral bodies

[Term]
id: HP:0005129
name: Congenital hypertrophy of left ventricle
xref: UMLS:C1855901
is_a: HP:0001712 ! Left ventricular hypertrophy

[Term]
id: HP:0005130
name: obsolete Restrictive heart failure
is_obsolete: true
replaced_by: HP:0001723

[Term]
id: HP:0005132
name: Pericardial constriction
def: "Compression of the heart caused by rigid, thickened, or fused pericardial membranes." [PMID:14966039]
xref: UMLS:C0240709
is_a: HP:0001697 ! Abnormal pericardium morphology

[Term]
id: HP:0005133
name: Right ventricular dilatation
def: "Enlargement of the chamber of the right ventricle, which can be defined echocardiographically as a right ventricular to left ventricular ratio greater than 1:1." [https://orcid.org/0000-0002-0736-9199, PMID:17715105, PMID:24075286, PMID:37443588]
comment: Ventricular dilatation is to be distinguished from ventricular aneurysm, which refers to a diastolic as well as systolic outpouching of the ventricle containing endocardium, epicardium, and thin-wall non-contractile scarred myocardium, which mainly develop in the setting of a full-thickness infarct, replaced by fibrous tissue because of myocardial infarction.
synonym: "Dilated heart right ventricle" EXACT []
xref: Fyler:1827
xref: Fyler:2333
xref: SNOMEDCT_US:253522006
xref: UMLS:C0344893
is_a: HP:0001707 ! Abnormal right ventricle morphology

[Term]
id: HP:0005134
name: Absence of the pulmonary valve
alt_id: HP:0005131
def: "Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries." [HPO_CONTRIBUTOR:DDD_dbrown]
comment: The distinctive feature of APVS is the airway obstruction caused by tracheobronchial compression that results from massive dilatation of the main pulmonary artery (PA) and its first- and second-order branches. Consequential tracheomalacia and bronchomalacia determine the timing and severity of respiratory compromise, as well as the morbidity and mortality of these patients.
synonym: "Absent pulmonary valve" EXACT []
xref: SNOMEDCT_US:6996004
xref: UMLS:C0265831
is_a: HP:0001641 ! Abnormal pulmonary valve morphology

[Term]
id: HP:0005135
name: Abnormal T-wave
def: "An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles." [https://orcid.org/0000-0002-0736-9199]
synonym: "EKG: T-wave abnormalities" EXACT []
synonym: "T-wave abnormalities" EXACT []
xref: UMLS:C4025245
is_a: HP:0003115 ! Abnormal EKG

[Term]
id: HP:0005136
name: Mitral annular calcification
def: "Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus." [https://orcid.org/0000-0002-0736-9199, PMID:23587525]
comment: MAC is a common degenerative process involving the fibrous annulus of the mitral valve, and is generally an incidental finding associated with aging. This term applies if MAC occurs at a substantially younger age than usual.
synonym: "Premature calcification of mitral annulus" EXACT []
xref: UMLS:C1835130
is_a: HP:0004382 ! Mitral valve calcification

[Term]
id: HP:0005141
name: obsolete Episodes of ventricular tachycardia
is_obsolete: true
replaced_by: HP:0004751

[Term]
id: HP:0005143
name: Anomalous origin of right pulmonary artery from ascending aorta
def: "The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery." [HPO_CONTRIBUTOR:DDD_dbrown]
xref: SNOMEDCT_US:253634009
xref: UMLS:C0345037
is_a: HP:0011660 ! Anomalous origin of one pulmonary artery from ascending aorta

[Term]
id: HP:0005144
name: Ventricular septal hypertrophy
def: "The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle." [http://www.heart.org/HEARTORG/Conditions/More/Cardiomyopathy/Hypertrophic-Cardiomyopathy_UCM_444317_Article.jsp#.WmePRJM-dL4, PMID:21349577]
synonym: "Thickened interventricular septum" EXACT []
xref: UMLS:C1845019
is_a: HP:0010438 ! Abnormal ventricular septum morphology

[Term]
id: HP:0005145
name: Coronary artery stenosis
def: "Abnormal narrowing of the coronary artery." []
synonym: "Narrowing of coronary artery" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:233970002
xref: UMLS:C0242231
is_a: HP:0006704 ! Abnormal coronary artery morphology

[Term]
id: HP:0005146
name: Cardiac valve calcification
def: "Abnormal calcification of a cardiac valve." [https://orcid.org/0000-0002-0736-9199]
synonym: "Calcifications of the cardiac valves" EXACT []
xref: UMLS:C1856483
is_a: HP:0001654 ! Abnormal heart valve morphology
is_a: HP:0011915 ! Cardiovascular calcification

[Term]
id: HP:0005147
name: Bidirectional ventricular ectopy
xref: UMLS:C1969410
is_a: HP:0006682 ! Premature ventricular contraction

[Term]
id: HP:0005148
name: Pulmonary valve defects
def: "Any defect in the valve connecting the heart and the pulmonary artery." []
xref: UMLS:C1860165
is_a: HP:0001641 ! Abnormal pulmonary valve morphology

[Term]
id: HP:0005150
name: Abnormal atrioventricular conduction
def: "An impairment of the electrical continuity between the atria and ventricles." [PMID:15372490]
xref: UMLS:C4025244
is_a: HP:0031546 ! Cardiac conduction abnormality

[Term]
id: HP:0005151
name: Preductal coarctation of the aorta
def: "Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch." [HPO_CONTRIBUTOR:DDD_dbrown]
comment: Blood flow to the aorta distal to the coarctation may be dependent on a patent ductus arteriosus, and hence closure of the ductus arteriosus can lead to serious ischemia of the affected tissues.
synonym: "Proximal aortic coarctation" EXACT []
xref: SNOMEDCT_US:13867009
xref: UMLS:C0265878
is_a: HP:0012305 ! Coarctation of the descending aortic arch

[Term]
id: HP:0005152
name: Histiocytoid cardiomyopathy
def: "A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells." [PMID:21585276, PMID:28050600]
comment: This HPO term intends to refer to the histological changes that characterize histiocytoid cardiomyopthy. The disease entity Histiocytoid cardiomyopathy is a rare arrhythmogenic disorder characterized by incessant ventricular tachycardia, cardiomegaly, and often sudden death by age 2 years.
synonym: "Arachnocytosis of the myocardium" EXACT []
synonym: "Foamy myocardial transformation" EXACT []
synonym: "Focal lipid cardiomyopathy" EXACT []
synonym: "Infantile cardiomyopathy with histiocytoid changes" EXACT []
synonym: "Infantile xanthomatous cardiomyopathy" EXACT []
synonym: "Isolated cardiac lipidosis" EXACT []
synonym: "Myocardial or conduction system hamartoma" EXACT []
synonym: "Oncocytic cardiomyopathy" EXACT []
xref: UMLS:C1708371
is_a: HP:0001638 ! Cardiomyopathy

[Term]
id: HP:0005155
name: Ventricular escape rhythm
def: "A ventricular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms)." []
synonym: "Idioventricular escape rhythm" EXACT []
xref: SNOMEDCT_US:81898007
xref: UMLS:C0232216
is_a: HP:0004308 ! Ventricular arrhythmia

[Term]
id: HP:0005156
name: Hypoplastic left atrium
def: "Underdeveloped, small left heart atrium" []
synonym: "Left atrium hypoplasia" EXACT []
synonym: "Underdeveloped left heart atrium" EXACT []
xref: Fyler:3040
xref: UMLS:C1970625
is_a: HP:0025579 ! Abnormal left atrium morphology

[Term]
id: HP:0005157
name: Concentric hypertrophic cardiomyopathy
alt_id: HP:0001672
def: "Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy." [https://orcid.org/0000-0002-0736-9199]
synonym: "Symmetric, concentric, hypertrophic cardiomyopathy" EXACT []
xref: UMLS:C0238044
is_a: HP:0001639 ! Hypertrophic cardiomyopathy

[Term]
id: HP:0005160
name: Total anomalous pulmonary venous return
alt_id: HP:0005153
alt_id: HP:0005175
def: "Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium." [https://orcid.org/0000-0002-0736-9199]
comment: Pulmonary veins drain through abnormal connections to the right atrium.
synonym: "TAPVC" EXACT abbreviation []
synonym: "TAPVD" EXACT abbreviation []
synonym: "TAPVR" EXACT abbreviation []
synonym: "Total anomalous pulmonary venous connection" EXACT []
synonym: "Total anomalous pulmonary venous drainage" EXACT []
xref: Fyler:0900
xref: Fyler:900
xref: SNOMEDCT_US:111323005
xref: SNOMEDCT_US:39905002
xref: UMLS:C0036400
is_a: HP:0010772 ! Anomalous pulmonary venous return

[Term]
id: HP:0005162
name: Abnormal left ventricular function
alt_id: HP:0005154
def: "Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole." [http://www.heart.org/HEARTORG/Conditions/HeartFailure/AboutHeartFailure/Types-of-Heart-Failure_UCM_306323_Article.jsp#.WmeKyJM-dL4, PMID:10956313]
synonym: "Impaired left ventricular function" EXACT []
synonym: "Left ventricular dysfunction" EXACT []
synonym: "Left ventricular failure" EXACT []
synonym: "Left ventricular impairment" EXACT []
synonym: "Left-sided heart failure" EXACT []
xref: SNOMEDCT_US:275514001
xref: SNOMEDCT_US:85232009
xref: UMLS:C0023212
xref: UMLS:C0553982
is_a: HP:0030872 ! Abnormal cardiac ventricular function

[Term]
id: HP:0005164
name: Dysplastic pulmonary valve
def: "A congenital malformation of the pulmonary valve characterized by leaflet deformation." [PMID:7704986]
synonym: "Dysplasia of pulmonary valve" EXACT []
synonym: "Pulmonary valve dysplasia" EXACT []
xref: UMLS:C1866206
is_a: HP:0001641 ! Abnormal pulmonary valve morphology

[Term]
id: HP:0005165
name: Shortened PR interval
def: "Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long." [https://orcid.org/0000-0002-0736-9199]
synonym: "Electrocardiographic short PR interval" EXACT []
synonym: "Short P-R interval" EXACT []
synonym: "Shortened PR interval on EKG" EXACT []
xref: SNOMEDCT_US:49578007
xref: UMLS:C0520878
is_a: HP:0031593 ! Abnormal PR interval

[Term]
id: HP:0005168
name: Elevated right atrial pressure
def: "An abnormal increase in magnitude of the pressure in the right atrium." [PMID:25211049]
comment: Elevated mean right atrial pressure (RAP) can be measured by cardiac catheterization.
xref: UMLS:C1867421
is_a: HP:0025443 ! Abnormal cardiac atrial physiology

[Term]
id: HP:0005170
name: Complete heart block with broad QRS complexes
def: "A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex." []
xref: UMLS:C1861987
is_a: HP:0001709 ! Third degree atrioventricular block

[Term]
id: HP:0005172
name: Left posterior fascicular block
def: "Conduction block in the posterior division of the left bundle branch of the bundle of His." [https://orcid.org/0000-0002-0736-9199]
synonym: "Left posterior hemiblock" EXACT []
xref: SNOMEDCT_US:62026008
xref: UMLS:C0264913
is_a: HP:0011713 ! Left bundle branch block

[Term]
id: HP:0005173
name: obsolete Calcific aortic valve stenosis
is_obsolete: true
replaced_by: HP:0004380

[Term]
id: HP:0005174
name: Membranous subvalvular aortic stenosis
def: "Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency." [https://orcid.org/0000-0002-0736-9199, PMID:5817839]
comment: An important feature in the differential diagnosis between valvular and subvalvular aortic stenosis is the fact that no ejection sound is present in the latter.
xref: UMLS:C1848978
is_a: HP:0001682 ! Subvalvular aortic stenosis

[Term]
id: HP:0005176
name: Dysplastic aortic valve
def: "A congenital malformation of the aortic valve characterized by leaflet deformation." [PMID:21349746]
xref: UMLS:C1866207
is_a: HP:0001646 ! Abnormal aortic valve morphology

[Term]
id: HP:0005177
name: Premature arteriosclerosis
def: "Arteriosclerosis occurring at an age that is younger than usual." [https://orcid.org/0000-0002-0736-9199]
synonym: "Premature hardening of arteries" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1848486
xref: UMLS:C4280503
is_a: HP:0002634 ! Arteriosclerosis

[Term]
id: HP:0005178
name: Complete heart block with narrow QRS complexes
def: "A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex." []
xref: UMLS:C1841661
is_a: HP:0001709 ! Third degree atrioventricular block

[Term]
id: HP:0005180
name: Tricuspid regurgitation
alt_id: HP:0004753
def: "Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium." [https://orcid.org/0000-0002-0736-9199]
comment: This term should not be applied to Ebstein's anomaly of the tricuspid valve (see HP:0010316).
synonym: "Tricuspid insufficiency" EXACT []
synonym: "Tricuspid valve regurgitation" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: Fyler:1161
xref: SNOMEDCT_US:111287006
xref: UMLS:C0040961
is_a: HP:0031651 ! Abnormal tricuspid valve physiology
is_a: HP:0034376 ! Atrioventricular valve regurgitation

[Term]
id: HP:0005181
name: Premature coronary artery atherosclerosis
def: "Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45." [PMID:28070240]
synonym: "Premature coronary artery disease" EXACT layperson []
xref: UMLS:C1867743
is_a: HP:0001677 ! Coronary artery atherosclerosis

[Term]
id: HP:0005182
name: Bicuspid pulmonary valve
def: "The presence of a bicuspid pulmonary valve." [https://orcid.org/0000-0002-0736-9199]
comment: The pulmonary valve normally has three cusps (flaps), that is, it is normally tricuspid.
xref: Fyler:1601
xref: SNOMEDCT_US:253599005
xref: UMLS:C0344987
is_a: HP:0031566 ! Abnormal pulmonary valve cusp morphology

[Term]
id: HP:0005183
name: Pericardial lymphangiectasia
def: "An abnormal dilatation of lymph vessels in the pericardium." [PMID:18391124]
xref: UMLS:C1856140
is_a: HP:0001697 ! Abnormal pericardium morphology
is_a: HP:0031842 ! Lymphangiectasis

[Term]
id: HP:0005184
name: Prolonged QTc interval
def: "A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations." [PMID:24097136]
xref: UMLS:C1560305
is_a: HP:0001657 ! Prolonged QT interval

[Term]
id: HP:0005185
name: Global systolic dysfunction
def: "A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly." [PMID:24173273, PMID:7713107]
xref: UMLS:C1847397
is_a: HP:0006673 ! Reduced systolic function

[Term]
id: HP:0005186
name: Synovial lining hyperplasia
def: "Synovial hyperplasia involves proliferation of mesenchymal stromal/stem cells and leads to synovial thickening, which can be observed radiographically." [PMID:27412524, PMID:30618151]
comment: Synovial hyperplasia is a frequent clinical finding in patients with joint injury and other joint disorders.
synonym: "Synovial hyperplasia" EXACT []
synonym: "Synovial hypertrophy" EXACT []
xref: SNOMEDCT_US:240206002
xref: UMLS:C0410574
is_a: HP:0005262 ! Abnormal synovial membrane morphology

[Term]
id: HP:0005187
name: Progressive joint destruction
xref: UMLS:C4025243
is_a: HP:0001367 ! Abnormal joint morphology

[Term]
id: HP:0005190
name: Proximal finger joint hyperextensibility
xref: UMLS:C4025242
is_a: HP:0001187 ! Hyperextensibility of the finger joints

[Term]
id: HP:0005191
name: Congenital knee dislocation
synonym: "Dislocated knee since birth" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:59068006
xref: UMLS:C0265669
is_a: HP:0004976 ! Knee dislocation

[Term]
id: HP:0005193
name: Restricted large joint movement
xref: UMLS:C4025241
is_a: HP:0001376 ! Limitation of joint mobility

[Term]
id: HP:0005194
name: Flattened metatarsal heads
def: "Abnormally flat shape of the heads of the metatarsal bones." [https://orcid.org/0000-0002-0736-9199]
comment: The metatarsal heads articulate with the proximal phalanges of the toes.
synonym: "Flattened head of long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025240
is_a: HP:0001832 ! Abnormal metatarsal morphology

[Term]
id: HP:0005195
name: Polyarticular arthropathy
xref: UMLS:C4025239
is_a: HP:0003040 ! Arthropathy

[Term]
id: HP:0005197
name: Generalized morning stiffness
def: "A sensation of stiffness in the joints that occurs following waking up in the morning." [https://orcid.org/0000-0002-0736-9199]
synonym: "Generalised morning stiffness" EXACT uk_spelling []
xref: UMLS:C4025238
is_a: HP:0001387 ! Joint stiffness

[Term]
id: HP:0005198
name: Stiff interphalangeal joints
def: "Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity." [https://orcid.org/0000-0002-0736-9199]
synonym: "Stiff hinge joints" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025237
is_a: HP:0001387 ! Joint stiffness

[Term]
id: HP:0005199
name: Aplasia of the abdominal wall musculature
def: "Absence of the abdominal musculature." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent abdominal musculature" EXACT []
xref: UMLS:C3149223
is_a: HP:0010318 ! Aplasia/Hypoplasia of the abdominal wall musculature

[Term]
id: HP:0005200
name: Retroperitoneal fibrosis
xref: SNOMEDCT_US:49120005
xref: UMLS:C0035357
is_a: HP:0002585 ! Abnormal peritoneum morphology

[Term]
id: HP:0005201
name: Anomalous splenoportal venous system
xref: UMLS:C4025236
is_a: HP:0031941 ! Abnormal portal venous system morphology

[Term]
id: HP:0005202
name: Helicobacter pylori infection
def: "A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach." [PMID:23652324]
comment: The bacterial pathogen Helicobacter pylori has co-evolved with humans and colonizes approximately half of the human population, but only causes overt gastric disease in a subset of infected hosts.
xref: UMLS:C0850666
is_a: HP:0004798 ! Recurrent infection of the gastrointestinal tract

[Term]
id: HP:0005203
name: Spontaneous esophageal perforation
alt_id: HP:0005251
def: "The occurrence of the full-thickness tear (perforation) of the wall of the esophagus." [https://orcid.org/0000-0002-0736-9199]
comment: Esophageal perforation can lead to retained gastric contents, saliva, bile, and other substances entering the mediastinum, resulting in mediastinitis, which in turn may lead to sepsis.
synonym: "Boerhaave syndrome" RELATED []
synonym: "Spontaneous esophageal rupture" EXACT []
xref: SNOMEDCT_US:19995004
xref: UMLS:C0238115
is_a: HP:0002031 ! Abnormal esophagus morphology

[Term]
id: HP:0005206
name: Pancreatic pseudocyst
def: "Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:111374002
xref: UMLS:C0030299
is_a: HP:0012090 ! Abnormal pancreas morphology

[Term]
id: HP:0005207
name: Gastric hypertrophy
def: "Hypertrophy of the stomach." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased stomach size" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1834341
xref: UMLS:C4280502
is_a: HP:0002577 ! Abnormal stomach morphology

[Term]
id: HP:0005208
name: Secretory diarrhea
def: "Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption." [https://orcid.org/0000-0002-0736-9199]
synonym: "Secretory diarrhoea" EXACT uk_spelling []
xref: SNOMEDCT_US:15699003
xref: UMLS:C0267557
is_a: HP:0002014 ! Diarrhea

[Term]
id: HP:0005209
name: Intrahepatic bile duct cysts
def: "The presence of cyst of the intrahepatic bile duct." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:235925007
xref: UMLS:C0400991
is_a: HP:0011040 ! Abnormal intrahepatic bile duct morphology

[Term]
id: HP:0005210
name: Hypoplastic colon
def: "Underdevelopment of the colon." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplasia of the colon" EXACT []
synonym: "Underdeveloped colon" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1392839
is_a: HP:0100811 ! Aplasia/Hypoplasia of the colon

[Term]
id: HP:0005211
name: Midgut malrotation
xref: UMLS:C1849706
is_a: HP:0002566 ! Intestinal malrotation

[Term]
id: HP:0005212
name: Anal mucosal leukoplakia
def: "Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation." [https://orcid.org/0000-0002-0736-9199, PMID:13316552]
xref: UMLS:C1844632
is_a: HP:0032186 ! Anal neoplasm

[Term]
id: HP:0005213
name: Pancreatic calcification
def: "The presence of abnormal calcium deposition lesions in the pancreas." [https://orcid.org/0000-0002-0736-9199]
synonym: "Pancreatic calcifications" EXACT plural_form []
xref: UMLS:C1842406
is_a: HP:0010766 ! Ectopic calcification
is_a: HP:0012090 ! Abnormal pancreas morphology

[Term]
id: HP:0005214
name: Intestinal obstruction
alt_id: HP:0005239
def: "Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bowel obstruction" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Intestinal blockage" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Intestinal obstruction" EXACT layperson []
xref: SNOMEDCT_US:81060008
xref: UMLS:C0021843
is_a: HP:0002242 ! Abnormal intestine morphology
is_a: HP:0004796 ! Gastrointestinal obstruction

[Term]
id: HP:0005215
name: Frequent Giardia lamblia infestation
def: "Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025235
is_a: HP:0004798 ! Recurrent infection of the gastrointestinal tract

[Term]
id: HP:0005216
name: Impaired mastication
def: "An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing." [PMID:23713640]
comment: Chewing and swallowing are interrelated. The act of chewing plays a fundamental role in the process of swallowing food. Mastication prepares food for swallowing by breaking it into small particles. Accordingly, loss of teeth has been associated with swallowing difficulties. Chewing difficulties may be caused by loss of teeth, partial dentures, or by tooth pain. Swallowing difficulties, in contrast, are often characterized by difficulties swallowing liquids, reflux, throat spasms, choking on dry food, or dysphagia.
synonym: "Chewing difficulties" EXACT layperson []
synonym: "Chewing difficulty" EXACT layperson []
synonym: "Difficulty chewing" EXACT layperson []
xref: SNOMEDCT_US:162020001
xref: UMLS:C0239043
is_a: HP:0031815 ! Abnormal oral physiology

[Term]
id: HP:0005217
name: Abdominal organ duplication
def: "A congenital malformation characterized by the development of an additional organ or organ-like structure, i.e., an extra copy of the organ normally located in the abdomen." []
xref: UMLS:C4025234
is_a: HP:0001438 ! Abnormal abdomen morphology

[Term]
id: HP:0005218
name: Anoperineal fistula
def: "The presence of a fistula (abnormal tunnel) between the anal canal and the perineum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Perianal fistula" BROAD []
xref: UMLS:C1835798
is_a: HP:0004871 ! Perineal fistula
is_a: HP:0010447 ! Anal fistula

[Term]
id: HP:0005219
name: Absence of intrinsic factor
def: "Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12." [https://orcid.org/0000-0002-0736-9199]
comment: This feature can be ascertained by immunoassay of gastric juices.
synonym: "Intrinsic factor absent from gastric juice" EXACT []
xref: UMLS:C4021641
is_a: HP:0002577 ! Abnormal stomach morphology

[Term]
id: HP:0005220
name: Multiple intestinal neurofibromatosis
xref: UMLS:C4025233
is_a: HP:0001067 ! Neurofibroma
is_a: HP:0002242 ! Abnormal intestine morphology
is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract

[Term]
id: HP:0005222
name: Bowel diverticulosis
def: "The presence of multiple diverticula of the intestine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bowel diverticula" RELATED []
xref: UMLS:C1394691
xref: UMLS:C1395674
is_a: HP:0002242 ! Abnormal intestine morphology

[Term]
id: HP:0005223
name: Duplicated colon
xref: UMLS:C1850328
is_a: HP:0002250 ! Abnormal large intestine morphology
is_a: HP:0100668 ! Intestinal duplication

[Term]
id: HP:0005224
name: Rectal abscess
alt_id: HP:0002567
def: "A collection of pus in the area of the rectum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Perirectal abscess" EXACT []
xref: SNOMEDCT_US:197166005
xref: SNOMEDCT_US:91669008
xref: UMLS:C0149770
xref: UMLS:C0267566
is_a: HP:0002034 ! Abnormal rectum morphology
is_a: HP:0025615 ! Abscess

[Term]
id: HP:0005225
name: Intestinal edema
def: "Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds." [https://orcid.org/0000-0002-0736-9199]
comment: This finding can be observed upon abdominal radiography. The bowel lumen may be slightly dilated. Secondary to the fluid accumulation, there are anatomic and motor alterations in the intestine which are reflected in the roentgenogram.
synonym: "Intestinal oedema" EXACT uk_spelling []
xref: UMLS:C1142262
is_a: HP:0000969 ! Edema
is_a: HP:0002242 ! Abnormal intestine morphology

[Term]
id: HP:0005227
name: Adenomatous colonic polyposis
alt_id: HP:0005226
def: "Presence of multiple adenomatous polyps in the colon." [https://orcid.org/0000-0002-0736-9199]
synonym: "Multiple adenomatous colon polyps" EXACT []
synonym: "Multiple colonic adenomatous polyps" EXACT []
xref: MEDDRA:10056981 "Adenomatous polyposis coli"
xref: UMLS:C1868071
is_a: HP:0030255 ! Large intestinal polyposis
is_a: HP:0100273 ! Neoplasm of the colon

[Term]
id: HP:0005229
name: Jejunoileal ulceration
xref: UMLS:C4025232
is_a: HP:0001549 ! Abnormal ileum morphology
is_a: HP:0005265 ! Abnormal jejunum morphology
is_a: HP:0034274 ! Gastrointestinal ulcer

[Term]
id: HP:0005230
name: Biliary tract obstruction
def: "Obstruction affecting the biliary tree." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:235918000
xref: UMLS:C0400979
is_a: HP:0012440 ! Abnormal biliary tract morphology

[Term]
id: HP:0005231
name: Chronic gastritis
def: "A chronic form of gastritis." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:8493009
xref: UMLS:C0085695
is_a: HP:0005263 ! Gastritis

[Term]
id: HP:0005232
name: Pancreatic dysplasia
def: "The presence of developmental dysplasia of the pancreas." [https://orcid.org/0000-0002-0736-9199]
comment: Dysplasia is defined in MPATH as a distortion or deficiency of the tissue or cellular architecture.
xref: UMLS:C4019084
is_a: HP:0012090 ! Abnormal pancreas morphology

[Term]
id: HP:0005233
name: Hypoplasia of the gallbladder
def: "The presence of a hypoplastic gallbladder." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic gallbladder" EXACT []
xref: SNOMEDCT_US:93259002
xref: UMLS:C0345282
is_a: HP:0011466 ! Aplasia/Hypoplasia of the gallbladder

[Term]
id: HP:0005234
name: Neonatal intestinal obstruction
xref: UMLS:C0859974
is_a: HP:0005214 ! Intestinal obstruction

[Term]
id: HP:0005235
name: Jejunal atresia
alt_id: HP:0011101
def: "A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:204702007
xref: SNOMEDCT_US:360491009
xref: UMLS:C0266175
is_a: HP:0005265 ! Abnormal jejunum morphology
is_a: HP:0011100 ! Intestinal atresia

[Term]
id: HP:0005236
name: Chronic calcifying pancreatitis
def: "A form of chronic pancreatitis that is characterized by calcification." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025231
is_a: HP:0001733 ! Pancreatitis

[Term]
id: HP:0005237
name: Degenerative liver disease
def: "The presence of degenerative changes of the liver." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025230
is_a: HP:0410042 ! Abnormal liver morphology

[Term]
id: HP:0005238
name: Discrete intestinal polyps
xref: UMLS:C4025229
is_a: HP:0200008 ! Intestinal polyposis

[Term]
id: HP:0005240
name: Esophageal obstruction
xref: SNOMEDCT_US:405247003
xref: UMLS:C0239296
is_a: HP:0002031 ! Abnormal esophagus morphology
is_a: HP:0004796 ! Gastrointestinal obstruction

[Term]
id: HP:0005241
name: Total intestinal aganglionosis
def: "A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel." [https://orcid.org/0000-0002-0736-9199, PMID:596929]
xref: SNOMEDCT_US:204745000
xref: UMLS:C0345240
is_a: HP:0004362 ! Abnormal enteric ganglion morphology

[Term]
id: HP:0005242
name: Extrahepatic biliary duct atresia
alt_id: HP:0006553
def: "Atresia in the extrahepatic bile duct." [https://orcid.org/0000-0002-0736-9199]
synonym: "Biliary atresia, extrahepatic" EXACT []
xref: SNOMEDCT_US:77480004
xref: SNOMEDCT_US:82821008
xref: UMLS:C0005411
is_a: HP:0005912 ! Biliary atresia
is_a: HP:0035013 ! Abnormal extrahepatic bile duct morphology

[Term]
id: HP:0005243
name: Partial abdominal muscle agenesis
def: "Failure to form of portions of the abdominal musculature." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025228
is_a: HP:0010318 ! Aplasia/Hypoplasia of the abdominal wall musculature

[Term]
id: HP:0005244
name: Gastrointestinal infarctions
synonym: "Death of digestive organ tissue due to poor blood supply" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "GI infarctions" EXACT abbreviation []
xref: UMLS:C3152231
is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract

[Term]
id: HP:0005245
name: Intestinal hypoplasia
def: "Developmental hypoplasia of the intestine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic intestines" EXACT []
synonym: "Underdeveloped instestine" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021640
is_a: HP:0002242 ! Abnormal intestine morphology

[Term]
id: HP:0005246
name: Giant hypertrophic gastritis
def: "A type of gastritis characterized by excessive proliferation of the gastric mucosa and diffuse thickening of the gastric mucosal folds." [https://orcid.org/0000-0002-0736-9199]
synonym: "Menetrier disease" RELATED []
xref: SNOMEDCT_US:413219009
xref: SNOMEDCT_US:60002000
xref: UMLS:C0017155
is_a: HP:0005263 ! Gastritis

[Term]
id: HP:0005247
name: Hypoplasia of the abdominal wall musculature
def: "Underdevelopment of the abdominal musculature." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abdominal muscular hypoplasia" EXACT []
xref: UMLS:C3279407
is_a: HP:0010318 ! Aplasia/Hypoplasia of the abdominal wall musculature

[Term]
id: HP:0005248
name: Intrahepatic biliary atresia
def: "Atresia in the intrahepatic bile duct." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bile duct paucity" EXACT [https://orcid.org/0000-0001-5208-3432, PMID:6981794]
synonym: "Intrahepatic atresia of biliary duct" EXACT []
xref: UMLS:C1855284
is_a: HP:0005912 ! Biliary atresia
is_a: HP:0011040 ! Abnormal intrahepatic bile duct morphology

[Term]
id: HP:0005249
name: Functional intestinal obstruction
xref: UMLS:C3639956
is_a: HP:0004796 ! Gastrointestinal obstruction

[Term]
id: HP:0005250
name: High intestinal obstruction
xref: UMLS:C4025227
is_a: HP:0005214 ! Intestinal obstruction

[Term]
id: HP:0005253
name: Increased anterioposterior diameter of thorax
synonym: "Increased anterioposterior diameter of chest" EXACT []
xref: UMLS:C1848760
is_a: HP:0100625 ! Enlarged thorax

[Term]
id: HP:0005254
name: Unilateral chest hypoplasia
synonym: "Small chest on one side" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Underdeveloped chest on one side" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1845576
is_a: HP:0005257 ! Thoracic hypoplasia

[Term]
id: HP:0005255
name: Absence of pectoralis minor muscle
def: "Aplasia (congenital absence) of the pectoralis minor." [https://orcid.org/0000-0002-0736-9199]
synonym: "Pectoralis minor aplasia" EXACT []
xref: UMLS:C1868158
is_a: HP:0011957 ! Abnormal pectoral muscle morphology

[Term]
id: HP:0005256
name: Unilateral absence of pectoralis major muscle
def: "Aplasia (congenital absence) of the pectoralis minor on only one side of the chest." [https://orcid.org/0000-0002-0736-9199]
synonym: "Unilateral aplasia of pectoralis major muscle" EXACT []
xref: UMLS:C4021639
is_a: HP:0011957 ! Abnormal pectoral muscle morphology

[Term]
id: HP:0005257
name: Thoracic hypoplasia
alt_id: HP:0001590
synonym: "Small chest" EXACT layperson []
synonym: "Small thorax" EXACT layperson []
xref: UMLS:C1837482
is_a: HP:0000765 ! Abnormal thorax morphology

[Term]
id: HP:0005258
name: Pectoral muscle hypoplasia/aplasia
synonym: "Small/absent pec muscle" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Underdeveloped/absent pec muscle" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025226
is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature

[Term]
id: HP:0005259
name: Abnormal facility in opposing the shoulders
def: "Increased range of shoulder movement related to aplasia or hypoplasia of the clavicles that results in the ability to approximate the shoulders in front of the chest." [PMID:23289840]
comment: This feature is characteristic of cleidocranial dysplasia. See Figure 2 of PMID:23289840
xref: UMLS:C1861517
is_a: HP:0001547 ! Abnormal rib cage morphology

[Term]
id: HP:0005261
name: Joint hemorrhage
alt_id: HP:0001391
alt_id: HP:0005196
def: "Hemorrhage occurring within a joint." [HPO_CONTRIBUTOR:gcarletti]
synonym: "Bleeding within a joint" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Hemarthroses" EXACT []
synonym: "Hemarthrosis" EXACT layperson []
synonym: "Joint hemorrhage" EXACT []
synonym: "Spontaneous joint haemorrhage" EXACT uk_spelling []
synonym: "Spontaneous joint hemorrhage" EXACT []
xref: SNOMEDCT_US:81808003
xref: UMLS:C0018924
is_a: HP:0001367 ! Abnormal joint morphology
is_a: HP:0011029 ! Internal hemorrhage
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-26T04:27:00Z

[Term]
id: HP:0005262
name: Abnormal synovial membrane morphology
def: "Any structural anomaly of the synovium, which is a membrane that lines the cavity of synovial joints and consists of a lining layer of macrophage-like synoviocytes and fibroblast-like synoviocytes, as well as a sublining of connective tissue. Synovial cells are thought to contribute to joint homeostasis by secreting various factors such as hyaluronic acid and lubricin important for joint lubrication and function, as well as disposing of the waste products." [PMID:27412524]
xref: UMLS:C4025225
is_a: HP:0001367 ! Abnormal joint morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-26T04:27:00Z

[Term]
id: HP:0005263
name: Gastritis
def: "The presence of inflammation of the gastric mucous membrane." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Stomach inflammation" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: MEDDRA:10017853 "Gastritis"
xref: SNOMEDCT_US:4556007
xref: UMLS:C0017152
is_a: HP:0004295 ! Abnormal gastric mucosa morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-26T04:32:00Z

[Term]
id: HP:0005264
name: Abnormality of the gallbladder
def: "An abnormality of the gallbladder." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the gallbladder" EXACT layperson []
synonym: "Anomaly of the gallbladder" EXACT []
xref: SNOMEDCT_US:253803008
xref: SNOMEDCT_US:49714001
xref: UMLS:C0266249
is_a: HP:0004297 ! Abnormality of the biliary system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-26T04:40:00Z

[Term]
id: HP:0005265
name: Abnormal jejunum morphology
def: "An abnormality of the jejunum, i.e., of the middle section of the small intestine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the jejunum" EXACT []
xref: UMLS:C4025224
is_a: HP:0002244 ! Abnormal small intestine morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-26T04:44:00Z

[Term]
id: HP:0005266
name: Intestinal polyp
def: "A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base." [https://orcid.org/0000-0002-0736-9199]
synonym: "Intestinal polyps" EXACT []
xref: SNOMEDCT_US:254588001
xref: UMLS:C0021846
is_a: HP:0002242 ! Abnormal intestine morphology
is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-26T04:46:00Z

[Term]
id: HP:0005267
name: Premature delivery because of cervical insufficiency or membrane fragility
xref: UMLS:C1851808
is_a: HP:0001622 ! Premature birth

[Term]
id: HP:0005268
name: Miscarriage
def: "A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy." [https://orcid.org/0000-0002-0736-9199]
comment: The age at which fetal demise is legally classified asa a miscarriage varies between countries with the US being 20 gestational weeks and the UK being 24 gestational weeks. The HPO chooses the average of these age ranges.
synonym: "Early fetal demise" EXACT []
synonym: "Early foetal demise" EXACT uk_spelling []
synonym: "Spontaneous abortion" EXACT []
xref: SNOMEDCT_US:17369002
xref: UMLS:C0000786
is_a: HP:0034241 ! Prenatal death

[Term]
id: HP:0005272
name: Prominent nasolabial fold
def: "Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure)." [PMID:19125428]
subset: hposlim_core
synonym: "Deep laugh lines" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deep nasolabial crease" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Deep nasolabial fold" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Deep nasolabial groove" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Deep smile lines" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Nasolabial crease, prominent" EXACT []
synonym: "Prominent laugh lines" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Prominent nasolabial groove" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Prominent smile lines" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1866487
is_a: HP:0005289 ! Abnormal nasolabial region morphology

[Term]
id: HP:0005273
name: Absent nasal septal cartilage
def: "Lack of the cartilage of the nasal septum." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Absent nasal septal cartilage" EXACT layperson []
synonym: "Absent nasal septum" EXACT layperson []
synonym: "Ageneis of nasal septal cartilage" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of nasal septal cartilage" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4021638
xref: UMLS:C4280501
is_a: HP:0009935 ! Aplasia/Hypoplasia of the nasal septum
is_a: HP:3000034 ! Abnormality nasal septum cartilage morphology

[Term]
id: HP:0005274
name: Prominent nasal tip
synonym: "Bulbous tip of nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Hyperplasia of nasal tip" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Hyperplasia of tip of nose" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypertrophy of nasal tip" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypertrophy of tip of nose" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Large nasal tip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Large tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Prominent nasal tip" EXACT layperson []
synonym: "Prominent tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Pronounced nasal tip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Pronounced tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1856118
xref: UMLS:C4280498
xref: UMLS:C4280499
xref: UMLS:C4280500
is_a: HP:0000436 ! Abnormal nasal tip morphology

[Term]
id: HP:0005275
name: Cartilaginous ossification of nose
synonym: "Cartilaginous nasal ossification" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1855616
is_a: HP:0000429 ! Abnormal morphology of the nasal alae

[Term]
id: HP:0005278
name: Hypoplastic nasal tip
synonym: "Aplasia of nasal tip" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of nasal tip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deficient nasal tip" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplasia of tip of nose" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypotrophic nasal tip" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypotrophic tip of nose" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Small nasal tip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Small tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of nasal tip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1844731
xref: UMLS:C4280496
xref: UMLS:C4280497
is_a: HP:0000436 ! Abnormal nasal tip morphology

[Term]
id: HP:0005280
name: Depressed nasal bridge
alt_id: HP:0000425
alt_id: HP:0000428
alt_id: HP:0000439
alt_id: HP:0000459
alt_id: HP:0004413
alt_id: HP:0004505
alt_id: HP:0004506
alt_id: HP:0004666
alt_id: HP:0005119
alt_id: HP:0005284
def: "Posterior positioning of the nasal root in relation to the overall facial profile for age." [PMID:19152422]
comment: The adjective "depressed" here does not indicate an active process but a status. A depressed nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed independently. In infancy, the nasal bridge is relatively more posterior than in the older person. The term depressed nasal bridge should only be used when the bridge is more posterior than is typical for age and ethnic background.
subset: hposlim_core
synonym: "Concave bridge of nose" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Concave nasal bridge" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Depressed bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Depressed nasal bridge" EXACT layperson []
synonym: "Depressed nasal root" EXACT []
synonym: "Depressed nasal root/bridge" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Flat bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Flat nasal bridge" EXACT layperson []
synonym: "Flat nasal root" EXACT []
synonym: "Flat, nasal bridge" EXACT layperson []
synonym: "Flattened nasal bridge" EXACT layperson []
synonym: "Low nasal bridge" EXACT layperson []
synonym: "Low nasal root" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Retruded bridge of nose" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Retruded nasal bridge" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1836542
xref: UMLS:C3550546
xref: UMLS:C4280495
is_a: HP:0000422 ! Abnormal nasal bridge morphology

[Term]
id: HP:0005281
name: Hypoplastic nasal bridge
synonym: "Decreased size of bridge of nose" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of nasal bridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplastic bridge of nose" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypotrophic bridge of nose" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypotrophic nasal bridge" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Small bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Small nasal bridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1865597
xref: UMLS:C4280494
is_a: HP:0000422 ! Abnormal nasal bridge morphology

[Term]
id: HP:0005285
name: Absent nasal bridge
synonym: "Absent bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Absent nasal bridge" EXACT layperson []
synonym: "Agenesis of bridge of nose" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Agenesis of nasal bridge" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing nasal bridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1837888
is_a: HP:0000422 ! Abnormal nasal bridge morphology

[Term]
id: HP:0005288
name: Abnormal nostril morphology
def: "Abnormality of the nostril." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormal naris morphology" EXACT []
synonym: "Abnormality of the nares" EXACT []
synonym: "Abnormality of the nostrils" EXACT layperson []
synonym: "Anomaly of the nares" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the nares" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the nostrils" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the nares" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the nostrils" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4021637
is_a: HP:0005105 ! Abnormal nasal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-26T06:04:00Z

[Term]
id: HP:0005289
name: Abnormal nasolabial region morphology
synonym: "Abnormality of the nasolabial region" EXACT []
synonym: "Anomaly of the nasolabial region" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the nasolabial region" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the nasolabial region" NARROW [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025223
is_a: HP:0000366 ! Abnormality of the nose
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-26T06:07:00Z

[Term]
id: HP:0005290
name: Internal carotid artery hypoplasia
synonym: "Aplasia of internal carotid artery" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of internal carotid artery" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deficiency of internal carotid artery" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypotrophic internal carotid artery" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Small internal carotid artery" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1855736
xref: UMLS:C4280491
xref: UMLS:C4280492
xref: UMLS:C4280493
is_a: HP:3000062 ! Abnormal internal carotid artery morphology

[Term]
id: HP:0005291
name: Inflammatory arteriopathy
xref: UMLS:C4025222
is_a: HP:0034785 ! Vasculitis by histology

[Term]
id: HP:0005292
name: Intimal thickening in the coronary arteries
xref: UMLS:C1968633
is_a: HP:0006704 ! Abnormal coronary artery morphology

[Term]
id: HP:0005293
name: Venous insufficiency
synonym: "Poorly functioning veins" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:20696009
xref: UMLS:C0042485
is_a: HP:0002624 ! Abnormal venous morphology

[Term]
id: HP:0005294
name: Arterial dissection
def: "A separation (dissection) of the layers of an artery." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:233992003
xref: SNOMEDCT_US:26845001
xref: SNOMEDCT_US:710864009
xref: SNOMEDCT_US:9406001
xref: UMLS:C0002949
is_a: HP:0011004 ! Abnormal systemic arterial morphology

[Term]
id: HP:0005295
name: Pseudocoarctation of the aorta
def: "Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum." [https://orcid.org/0000-0002-0736-9199, PMID:17593995, PMID:18651460]
comment: Note that the ligamentum arteriosum, which develops from the ductus arteriosus, is attached to the superior surface of the pulmonary artery and the inferior surface of the aortic arch.
xref: SNOMEDCT_US:70602002
xref: UMLS:C0345088
is_a: HP:0012303 ! Abnormal aortic arch morphology

[Term]
id: HP:0005296
name: obsolete Occlusive vascular disease
is_obsolete: true
replaced_by: HP:0004950

[Term]
id: HP:0005297
name: Premature occlusive vascular stenosis
def: "Peripheral arterial stenosis with onset before the age of 50 years." []
xref: UMLS:C1867457
is_a: HP:0004950 ! Peripheral arterial stenosis

[Term]
id: HP:0005298
name: obsolete Atrioventricular canal defect with right ventricle aorta and pulmonary atresia
is_obsolete: true
replaced_by: HP:0006695

[Term]
id: HP:0005299
name: obsolete Premature peripheral vascular disease
is_obsolete: true
replaced_by: HP:0004950

[Term]
id: HP:0005300
name: Nodular inflammatory vasculitis
xref: UMLS:C4025219
is_a: HP:0034785 ! Vasculitis by histology

[Term]
id: HP:0005301
name: Persistent left superior vena cava
def: "A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress." [PMID:18847480]
synonym: "PLSVC" EXACT abbreviation []
xref: SNOMEDCT_US:77978002
xref: UMLS:C0265931
is_a: HP:0025575 ! Abnormal superior vena cava morphology

[Term]
id: HP:0005302
name: Carotid artery tortuosity
def: "Abnormal tortuous (i.e., twisted) form of the carotid arteries." [https://orcid.org/0000-0002-0736-9199]
synonym: "Tortuous carotid arteries" EXACT []
xref: SNOMEDCT_US:401051003
xref: UMLS:C1303076
is_a: HP:0005116 ! Arterial tortuosity
is_a: HP:0005344 ! Abnormal carotid artery morphology

[Term]
id: HP:0005303
name: Aortic arch calcification
def: "Calcification, that is, pathological deposition of calcium salts in the arch of aorta." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1969291
is_a: HP:0004962 ! Thoracic aorta calcification

[Term]
id: HP:0005304
name: Hypoplastic pulmonary veins
synonym: "Underdeveloped lung veins" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1970501
is_a: HP:0030968 ! Abnormal pulmonary vein morphology

[Term]
id: HP:0005305
name: Cerebral venous thrombosis
def: "Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow." [https://orcid.org/0000-0002-0736-9199]
synonym: "Blood clot in cerebral vein" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Cerebral thrombosis" EXACT []
synonym: "Cerebral vein thrombosis" EXACT []
xref: SNOMEDCT_US:95455008
xref: UMLS:C0151945
is_a: HP:0004936 ! Venous thrombosis

[Term]
id: HP:0005306
name: Capillary hemangioma
def: "The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Capillary hemangiomata" EXACT plural_form []
synonym: "Strawberry birthmark" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:195382003
xref: SNOMEDCT_US:254206003
xref: SNOMEDCT_US:402867006
xref: SNOMEDCT_US:56975005
xref: SNOMEDCT_US:83343001
xref: UMLS:C0206733
is_a: HP:0001028 ! Hemangioma

[Term]
id: HP:0005307
name: Postural hypotension with compensatory tachycardia
xref: UMLS:C1850438
is_a: HP:0001278 ! Orthostatic hypotension

[Term]
id: HP:0005308
name: Pulmonary artery vasoconstriction
xref: UMLS:C1867424
is_a: HP:0030967 ! Abnormal pulmonary artery physiology

[Term]
id: HP:0005309
name: obsolete Peripheral vascular insufficiency
is_obsolete: true
replaced_by: HP:0004950

[Term]
id: HP:0005310
name: Large vessel vasculitis
def: "A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta." [https://orcid.org/0000-0002-0736-9199, PMID:16088500]
xref: UMLS:C4025218
is_a: HP:0034784 ! Vasculitis by anatomical site

[Term]
id: HP:0005311
name: Agenesis of pulmonary vessels
def: "A developmental defect characterized by the lack of formation of the pulmonary blood vessels." []
synonym: "Absent lung vessels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1970630
is_a: HP:0004930 ! Abnormality of the pulmonary vasculature

[Term]
id: HP:0005312
name: Pulmonary aterial intimal fibrosis
def: "Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation." [https://orcid.org/0000-0002-0736-9199]
comment: Some causes of intimal fibrosis are hypertension, intimal fibroplasia, arterial atheroma, and CADASIL syndrome.
xref: UMLS:C4025217
is_a: HP:0030966 ! Abnormal pulmonary artery morphology

[Term]
id: HP:0005313
name: Arterial fibromuscular dysplasia
def: "An arterial lesion that is characterized by either intimal fibroplasia, with neointimal lesions of cells and matrix deposition, or medial fibroplasia, in which there is loss of smooth muscle cells and increased deposition of collagen and proteoglycans in the medial layer." [PMID:27939641]
comment: Fibromuscular dysplasia (FMD) is distinct from atherosclerotic lesions in that FMD lesions do not contain inflammatory cells or lipids. Instead, the pathology of FMD. FMD can result in arterial stenosis or occlusion, and less commonly, arterial dissection or aneurysm formation. FMD can affect almost any artery but most commonly affects the renal arteries, presenting as hypertension, and the carotid and vertebral arteries, leading to ischemic stroke, transient ischemic attacks, headaches, and pulsatile tinnitus.
xref: SNOMEDCT_US:31653004
xref: SNOMEDCT_US:359553002
xref: UMLS:C0016052
is_a: HP:0011004 ! Abnormal systemic arterial morphology

[Term]
id: HP:0005314
name: Anomalous branches of internal carotid artery
xref: UMLS:C1847886
is_a: HP:0005344 ! Abnormal carotid artery morphology

[Term]
id: HP:0005315
name: obsolete Peripheral artery occlusive disease
is_obsolete: true
replaced_by: HP:0004950

[Term]
id: HP:0005316
name: Peripheral pulmonary vessel aplasia
xref: UMLS:C1848877
is_a: HP:0004930 ! Abnormality of the pulmonary vasculature

[Term]
id: HP:0005317
name: Increased pulmonary vascular resistance
def: "Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units." []
xref: UMLS:C1867423
is_a: HP:0030875 ! Abnormality of pulmonary circulation

[Term]
id: HP:0005318
name: Cerebral vasculitis
def: "Inflammation of the blood vessels within the brain." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:427020007
xref: UMLS:C0238051
is_a: HP:0034784 ! Vasculitis by anatomical site
is_a: HP:0100659 ! Abnormal cerebral vascular morphology

[Term]
id: HP:0005320
name: Lack of facial subcutaneous fat
synonym: "Lack of facial fat below the skin" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C3277426
is_a: HP:0003717 ! Minimal subcutaneous fat

[Term]
id: HP:0005321
name: Mandibulofacial dysostosis
def: "A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations." [https://orcid.org/0000-0002-0736-9199]
synonym: "Treacher Collins syndrome" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:82203000
xref: UMLS:C0242387
is_a: HP:0004439 ! Craniofacial dysostosis

[Term]
id: HP:0005322
name: Prominent nasal septum
synonym: "Low hanging nasal septum" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Low hanging septum of nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Prominent nasal septum" EXACT layperson []
synonym: "Prominent septum of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Visible nasal septum" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Visible septum of nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025216
xref: UMLS:C4280489
xref: UMLS:C4280490
is_a: HP:0000419 ! Abnormal nasal septum morphology

[Term]
id: HP:0005323
name: Hemifacial hypertrophy
def: "Unilateral overgrowth of facial tissues, including muscles, bones and skin." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Enlargement of half of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Facial hemihyperplasia" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Facial hemihypertophy" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Friedreich's disease" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Hemifacial enlargement" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypertrophy of half of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increase in size of half of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Overgrowth of half of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:10394003
xref: SNOMEDCT_US:697962004
xref: UMLS:C0016719
xref: UMLS:C1399354
is_a: HP:0000324 ! Facial asymmetry

[Term]
id: HP:0005324
name: Disturbance of facial expression
def: "An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed." [https://orcid.org/0000-0003-2958-5076]
synonym: "Disturbance of facial expression" EXACT layperson []
xref: UMLS:C4025215
is_a: HP:0005346 ! Abnormal facial expression

[Term]
id: HP:0005325
name: Extension of hair growth on temples to lateral eyebrow
def: "A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows." [https://orcid.org/0000-0002-0736-9199]
synonym: "Unusual hairline with hair growth on temples extending to lateral eyebrow" EXACT []
xref: UMLS:C1857455
is_a: HP:0000599 ! Abnormality of the frontal hairline

[Term]
id: HP:0005326
name: Hypoplastic philtrum
alt_id: HP:0005331
def: "Underdevelopment of the philtrum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small philtrum" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1856886
is_a: HP:0000288 ! Abnormality of the philtrum

[Term]
id: HP:0005327
name: Loss of facial expression
synonym: "Loss of facial expression" EXACT layperson []
xref: UMLS:C1852476
is_a: HP:0004673 ! Decreased facial expression

[Term]
id: HP:0005328
name: Progeroid facial appearance
alt_id: HP:0000335
alt_id: HP:0005333
def: "A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance." [https://orcid.org/0000-0002-0736-9199]
synonym: "Aged facial appearance" EXACT []
synonym: "Premature aged appearance" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Prematurely aged face" EXACT []
synonym: "Prematurely aged facial appearance" EXACT []
synonym: "Wizened face" EXACT []
xref: UMLS:C1857710
is_a: HP:0007495 ! Prematurely aged appearance

[Term]
id: HP:0005329
name: Fixed facial expression
synonym: "Fixed facial expression" EXACT layperson []
synonym: "Unchanging facial expression" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1855353
is_a: HP:0004673 ! Decreased facial expression

[Term]
id: HP:0005332
name: Recurrent mandibular subluxations
def: "Recurrent partial dislocations of the mandible." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1857011
is_a: HP:0000277 ! Abnormal mandible morphology
is_a: HP:0032153 ! Joint subluxation

[Term]
id: HP:0005335
name: Sleepy facial expression
synonym: "Sleepy facial expression" EXACT layperson []
synonym: "Somnolent facial expression" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025214
is_a: HP:0005324 ! Disturbance of facial expression

[Term]
id: HP:0005336
name: Forehead hyperpigmentation
synonym: "Darkening of the forehead" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1969673
is_a: HP:0000290 ! Abnormal forehead morphology
is_a: HP:0007400 ! Irregular hyperpigmentation

[Term]
id: HP:0005338
name: Sparse lateral eyebrow
alt_id: HP:0004521
alt_id: HP:0009923
def: "Decreased density/number and/or decreased diameter of lateral eyebrow hairs." [https://orcid.org/0000-0002-0736-9199]
comment: Abnormal sparseness of the eyebrows laterally.
subset: hposlim_core
synonym: "Lateral hypoplasia of eyebrows" EXACT []
synonym: "Lateral thinning of eyebrows" EXACT []
synonym: "Laterally sparse eyebrow" EXACT []
synonym: "Laterally sparse eyebrows" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Limited hair on end of eyebrow" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Sparse lateral eyebrows" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1857206
is_a: HP:0045075 ! Sparse eyebrow

[Term]
id: HP:0005339
name: Abnormality of complement system
alt_id: HP:0025541
def: "An abnormality of the complement system." [https://orcid.org/0000-0002-0736-9199, PMID:19388161]
comment: The complement system represents a family of over 25 serum proteins and cell surface receptors that act in a cascade manner leading to innate functions such as inflammation and enhancement of adaptive immunity. Three general pathways, i.e. classical, lectin and alternative, activate the complement system.
xref: UMLS:C4025213
is_a: HP:0005368 ! Abnormality of humoral immunity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-26T07:58:00Z

[Term]
id: HP:0005340
name: Spastic/hyperactive bladder
xref: UMLS:C1836904
is_a: HP:0000009 ! Functional abnormality of the bladder

[Term]
id: HP:0005341
name: Autonomic bladder dysfunction
def: "Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025212
is_a: HP:0012332 ! Abnormal autonomic nervous system physiology

[Term]
id: HP:0005343
name: Hypoplasia of the bladder
alt_id: HP:0005342
def: "Underdevelopment of the urinary bladder." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic bladder" EXACT []
synonym: "Underdeveloped bladder" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1855335
is_a: HP:0010476 ! Aplasia/Hypoplasia of the bladder

[Term]
id: HP:0005344
name: Abnormal carotid artery morphology
def: "Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches." []
synonym: "Abnormality of the carotid arteries" EXACT []
xref: UMLS:C4025211
is_a: HP:0011004 ! Abnormal systemic arterial morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-26T06:37:00Z

[Term]
id: HP:0005345
name: Abnormal vena cava morphology
alt_id: HP:0030971
def: "An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava." []
synonym: "Abnormality of the vena cava" RELATED []
xref: UMLS:C4025210
is_a: HP:0002624 ! Abnormal venous morphology
is_a: HP:0030962 ! Abnormal morphology of the great vessels
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-26T06:40:00Z

[Term]
id: HP:0005346
name: Abnormal facial expression
synonym: "Abnormal facial expression" EXACT layperson []
xref: UMLS:C4025209
is_a: HP:0000271 ! Abnormality of the face
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-26T06:44:00Z

[Term]
id: HP:0005347
name: Tracheal cartilaginous sleeve
def: "Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation in which distinct tracheal rings are replaced by a continuous cartilaginous segment. Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis to the carina or bronchus with little to no pars membranacea posteriorly. Comment:Tracheal cartilaginous sleeve has been associated with various craniosynostosis syndromes." [PMID:25375853]
xref: UMLS:C1863363
is_a: HP:0004468 ! Anomalous tracheal cartilage

[Term]
id: HP:0005348
name: Inspiratory stridor
def: "Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:58596002
xref: UMLS:C0677600
is_a: HP:0010307 ! Stridor

[Term]
id: HP:0005349
name: Hypoplasia of the epiglottis
alt_id: HP:0008746
def: "Hypoplasia of the epiglottis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic epiglottis" EXACT []
xref: UMLS:C1396772
is_a: HP:0010565 ! Aplasia/Hypoplasia of the Epiglottis

[Term]
id: HP:0005352
name: Severe T-cell immunodeficiency
def: "A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms." [PMID:18755723]
comment: Several diseases are classified as severe T cell immunodeficiencies: severe combined immunodeficiency syndrome (SCID), reticular dysgenesis, thymic dysplasia (Nezelof syndrome), combined immunodeficiency disease (CID), and Wiskott-Aldrich syndrome (WAS).
synonym: "Severe T-cell immunodeficiency" EXACT layperson []
xref: UMLS:C4025208
is_a: HP:0005374 ! Cellular immunodeficiency

[Term]
id: HP:0005353
name: Recurrent herpes
def: "Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus." []
synonym: "Susceptibility to herpesvirus" EXACT layperson []
xref: UMLS:C4025207
is_a: HP:0034318 ! Unusual virus reactivation

[Term]
id: HP:0005354
name: Absent cellular immunity
def: "Complete inability of T cells to perform their functions in cell-mediated immunity." []
synonym: "Lack of T cell function" EXACT []
xref: UMLS:C1849426
is_a: HP:0011840 ! Abnormality of T cell physiology

[Term]
id: HP:0005356
name: Decreased circulating complement factor I concentration
def: "Concentration of the complement component factor I in the blood circulation below the lower limit of normal." [https://emedicine.medscape.com/article/135478-overview]
synonym: "Decreased serum complement factor I" EXACT []
xref: UMLS:C1970257
is_a: HP:0004431 ! Reduced circulating complement concentration

[Term]
id: HP:0005357
name: Defective B cell differentiation
def: "Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity." [GO:0030183]
xref: UMLS:C1859624
is_a: HP:0005384 ! Defective B cell activation

[Term]
id: HP:0005359
name: Aplasia of the thymus
def: "Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent thymic shadow" RELATED []
synonym: "Absent thymus" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Athymia" EXACT []
synonym: "Lack of thymic shadow" RELATED []
xref: SNOMEDCT_US:702623002
xref: SNOMEDCT_US:91918005
xref: UMLS:C0685894
is_a: HP:0010515 ! Aplasia/Hypoplasia of the thymus

[Term]
id: HP:0005360
name: Susceptibility to chickenpox
def: "Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox." []
xref: UMLS:C1855205
is_a: HP:0004429 ! Recurrent viral infections

[Term]
id: HP:0005363
name: Humoral immunodeficiency
def: "A general term referring to a defect in immunity resulting from impaired antibody production." []
comment: If possible it is preferable to use a precise description of the observed manifestations leading to the inference of humoral immunodeficiency.
xref: UMLS:C4025206
is_a: HP:0002721 ! Immunodeficiency

[Term]
id: HP:0005364
name: obsolete Severe viral infections
is_obsolete: true
replaced_by: HP:0004429

[Term]
id: HP:0005365
name: Severe B lymphocytopenia
alt_id: HP:0002856
def: "A severe form of B lymphocytopenia in which the count of B cells is very low or absent." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absence of B cells" RELATED []
synonym: "Absent B cells" EXACT []
xref: UMLS:C1863715
xref: UMLS:C4020824
is_a: HP:0010976 ! Decreased total B cell count

[Term]
id: HP:0005366
name: Recurrent streptococcus pneumoniae infections
def: "Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C2169794
is_a: HP:0002205 ! Recurrent respiratory infections
is_a: HP:0020096 ! Recurrent streptococcal infections

[Term]
id: HP:0005368
name: Abnormality of humoral immunity
def: "An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system." [https://orcid.org/0000-0002-0736-9199]
synonym: "Defective humoral immunity" EXACT []
xref: UMLS:C3150510
is_a: HP:0010978 ! Abnormality of immune system physiology

[Term]
id: HP:0005369
name: Decreased circulating complement factor H concentration
def: "Concentration of the complement component factor H in the blood circulation below the lower limit of normal." [https://emedicine.medscape.com/article/135478-overview]
synonym: "Decreased serum complement factor H" EXACT []
xref: UMLS:C1969222
is_a: HP:0004431 ! Reduced circulating complement concentration

[Term]
id: HP:0005372
name: Abnormality of B cell physiology
alt_id: HP:0005398
def: "An abnormality of the physiological functioning of B cells." [https://orcid.org/0000-0002-0736-9199]
comment: This term refers to any abnormality of the B cells, which play a role in the humoral immune response. The main functions of B cells are to produce antibodies, to perform the role of antigen presenting cells, and to develop into memory cells.
synonym: "Abnormality of B cell physiology" EXACT layperson []
synonym: "Reduced B cell function" EXACT layperson []
xref: UMLS:C1849242
is_a: HP:0031409 ! Abnormal lymphocyte physiology

[Term]
id: HP:0005374
name: Cellular immunodeficiency
alt_id: HP:0005375
def: "An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity." [http://www.dictionary.com/browse/cellular-immunodeficiency]
xref: UMLS:C1855204
is_a: HP:0002721 ! Immunodeficiency

[Term]
id: HP:0005375
name: obsolete Partial cellular immunodeficiency
is_obsolete: true
replaced_by: HP:0005374

[Term]
id: HP:0005376
name: Recurrent Haemophilus influenzae infections
def: "Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae." [https://orcid.org/0000-0002-0736-9199]
synonym: "Recurrent H. influenzae infections" EXACT []
xref: UMLS:C4025204
is_a: HP:0005420 ! Recurrent gram-negative bacterial infections

[Term]
id: HP:0005379
name: obsolete Severe T lymphocytopenia
is_obsolete: true
consider: HP:0005403

[Term]
id: HP:0005381
name: Recurrent meningococcal disease
alt_id: HP:0005414
def: "Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased susceptibility to neisseria meningitidis infections" EXACT layperson []
xref: UMLS:C1970263
is_a: HP:0005430 ! Recurrent Neisserial infections

[Term]
id: HP:0005384
name: Defective B cell activation
def: "A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of" [http://www.wikidata.org/entity/Q1951035, ISBN:0781735149]
xref: UMLS:C1846551
is_a: HP:0005372 ! Abnormality of B cell physiology

[Term]
id: HP:0005386
name: Recurrent protozoan infections
def: "Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025202
is_a: HP:0002719 ! Recurrent infections

[Term]
id: HP:0005387
name: Combined immunodeficiency
def: "A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications." [PMID:23321211]
xref: UMLS:C0494261
is_a: HP:0002721 ! Immunodeficiency

[Term]
id: HP:0005389
name: Depletion of components of the alternative complement pathway
def: "An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products." [https://en.wikipedia.org/wiki/Alternative_complement_pathway]
xref: UMLS:C1969220
is_a: HP:0005482 ! Abnormality of the alternative complement pathway

[Term]
id: HP:0005390
name: Recurrent opportunistic infections
alt_id: HP:0005426
def: "Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system." [https://orcid.org/0000-0002-0736-9199]
synonym: "Frequent opportunistic infections" EXACT []
xref: UMLS:C1832324
is_a: HP:0002719 ! Recurrent infections
is_a: HP:0031690 ! Opportunistic infection

[Term]
id: HP:0005396
name: Susceptibility to coronavirus 229e
def: "Increased susceptibility to coronavirus 229e, as manifested by recurrent episodes of coronavirus 229e." []
xref: UMLS:C1852539
is_a: HP:0004429 ! Recurrent viral infections

[Term]
id: HP:0005397
name: obsolete Exaggerated cellular immune processes
is_obsolete: true
consider: HP:0011840

[Term]
id: HP:0005400
name: Reduction of neutrophil motility
def: "An abnormal reduction of the cell motility of neutrophils." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025201
is_a: HP:0011990 ! Abnormal neutrophil physiology

[Term]
id: HP:0005401
name: Recurrent candida infections
def: "An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections." [https://orcid.org/0000-0002-0736-9199]
synonym: "Frequent candida infections" EXACT []
xref: UMLS:C1860128
is_a: HP:0002841 ! Recurrent fungal infections

[Term]
id: HP:0005402
name: obsolete Primary T-lymphocyte immune abnormalities
is_obsolete: true
replaced_by: HP:0011840

[Term]
id: HP:0005403
name: Decreased total T cell count
alt_id: HP:0005412
alt_id: HP:0045071
def: "The absolute number of T cells per volume is below the lower limit of normal." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decrease in T cell count" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Decrease in T cell number" EXACT []
synonym: "Decreased numbers of circulating T cells" EXACT []
synonym: "Low T cell count" EXACT layperson []
synonym: "Reduced number of T cells" EXACT layperson []
synonym: "T cell lymphopenia" EXACT []
synonym: "T lymphocytopenia" EXACT []
xref: UMLS:C2931322
is_a: HP:0011839 ! Abnormal T cell count

[Term]
id: HP:0005404
name: Increased total B cell count
def: "The absolute number of B cells in the blood, per microlitre is above the upper limit of normal of the reference range for the appropriate sex and age-group." [https://orcid.org/0000-0002-0736-9199, PMID:32569607]
synonym: "B cell lymphocytosis" EXACT []
synonym: "Increase in B cell count" EXACT []
synonym: "Increase in B cell number" EXACT []
synonym: "Increased number of B cells" EXACT []
xref: UMLS:C1858972
is_a: HP:0025806 ! Abnormal total B cell count

[Term]
id: HP:0005406
name: Recurrent bacterial skin infections
alt_id: HP:0000983
def: "Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis." [https://orcid.org/0000-0002-0736-9199]
comment: Infectious dermatitis may manifest as impetigo, multiple purulent blisters, erythema, lymphadenopathy near the site of infection.
synonym: "Recurrent bacterial skin infections" EXACT layperson []
synonym: "Recurrent cutaneous pyogenic infections" EXACT []
synonym: "Recurrent episodes of impetigo" EXACT []
synonym: "Recurrent episodes of infectious dermatitis" EXACT []
synonym: "Recurrent pyogenic skin infections" EXACT []
xref: UMLS:C1835686
is_a: HP:0001581 ! Recurrent skin infections
is_a: HP:0002718 ! Recurrent bacterial infections

[Term]
id: HP:0005407
name: obsolete Decreased proportion of CD4-positive helper T cells
is_obsolete: true
replaced_by: HP:0032218

[Term]
id: HP:0005409
name: obsolete Markedly reduced T cell function
is_obsolete: true
replaced_by: HP:0011840

[Term]
id: HP:0005411
name: Chronic intestinal candidiasis
def: "Persistent overgrowth of Candida albicans in the gastrointestinal tract." [https://orcid.org/0000-0002-0736-9199]
synonym: "Candida overgrowth syndrome" RELATED []
xref: UMLS:C4020823
xref: UMLS:C4025199
is_a: HP:0002728 ! Chronic mucocutaneous candidiasis

[Term]
id: HP:0005413
name: Increased alpha-globulin
def: "An abnormally increased level of circulating alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant." [PMID:15663032]
xref: SNOMEDCT_US:124022007
xref: UMLS:C1167806
is_a: HP:0032311 ! Increased circulating globulin level

[Term]
id: HP:0005415
name: Decreased CD8+ T cell proportion
alt_id: HP:0005481
def: "Abnormal decrease of cytotoxic CD3+CD8+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population." [https://orcid.org/0000-0002-0736-9199]
synonym: "CD8+ T-cell lymphopenia" EXACT []
synonym: "Decreased proportion of CD8+ T cells" EXACT []
synonym: "Decreased proportion of CD8-positive T cells" EXACT []
synonym: "Decreased proportion of CD8-positive, alpha-beta T cells" EXACT []
xref: UMLS:C1839305
is_a: HP:0031393 ! Abnormal CD8+ T cell proportion

[Term]
id: HP:0005416
name: Decreased circulating complement factor B concentration
def: "Concentration of the complement component factor B in the blood circulation below the lower limit of normal." [https://emedicine.medscape.com/article/135478-overview]
synonym: "Decreased serum complement factor B" EXACT []
synonym: "Decreased serum factor b" EXACT []
xref: UMLS:C4021636
is_a: HP:0004431 ! Reduced circulating complement concentration

[Term]
id: HP:0005419
name: Decreased T cell activation
alt_id: HP:0005370
alt_id: HP:0005436
def: "Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific." [ISBN:0781735149]
synonym: "Decreased T lymphocyte activation" EXACT []
synonym: "Decreased T-cell activation" EXACT []
synonym: "Decreased T-lymphocyte activation" EXACT []
synonym: "Defective T cell activation" EXACT []
synonym: "Profound depletion of T4+ lymphocytes" EXACT []
xref: UMLS:C1846550
is_a: HP:0410035 ! Abnormal T cell activation

[Term]
id: HP:0005420
name: Recurrent gram-negative bacterial infections
alt_id: HP:0005395
def: "Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents." [https://orcid.org/0000-0002-0736-9199]
comment: Gram-negative bacteria have a unique outer membrane, a thinner layer of peptidoglycan compared to gram-positive bacteria, and a periplasmic space between the cell wall and the membrane.
xref: UMLS:C4025198
is_a: HP:0002718 ! Recurrent bacterial infections

[Term]
id: HP:0005421
name: Decreased circulating complement C3 concentration
alt_id: HP:0005408
def: "Concentration of the complement component C3 in the blood circulation below the lower limit of normal." [https://emedicine.medscape.com/article/135478-overview]
synonym: "Decreased serum C3" EXACT []
synonym: "Decreased serum complement C3" EXACT []
synonym: "Decreased serum complement C3 level" EXACT []
xref: UMLS:C1837512
is_a: HP:0004431 ! Reduced circulating complement concentration

[Term]
id: HP:0005422
name: Absence of CD8-positive T cells
def: "Lack of detectible CD8-positive T cells" []
synonym: "Absence of CD8+ T cells" EXACT []
xref: UMLS:C4025197
is_a: HP:0005415 ! Decreased CD8+ T cell proportion

[Term]
id: HP:0005423
name: Dysfunctional alternative complement pathway
def: "An abnormality of the functioning of any aspect of the alternative complement pathway." []
xref: UMLS:C1839458
is_a: HP:0005482 ! Abnormality of the alternative complement pathway

[Term]
id: HP:0005424
name: Absent specific antibody response
def: "Absence of specific immunoglobulins directed against a specific antigen or microorganism." [PMID:17100769]
xref: UMLS:C1863246
is_a: HP:0012475 ! Decreased circulating level of specific antibody

[Term]
id: HP:0005425
name: Recurrent sinopulmonary infections
def: "An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections." [https://orcid.org/0000-0002-0736-9199]
synonym: "Chronic sinopulmonary infection" EXACT []
synonym: "Recurrent sinus and lung infections" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1846546
is_a: HP:0002205 ! Recurrent respiratory infections

[Term]
id: HP:0005428
name: Severe recurrent varicella
xref: UMLS:C1833487
is_a: HP:0004429 ! Recurrent viral infections

[Term]
id: HP:0005429
name: Recurrent systemic pyogenic infections
def: "Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections." [https://orcid.org/0000-0001-7941-2961]
xref: UMLS:C4025196
is_a: HP:0002718 ! Recurrent bacterial infections

[Term]
id: HP:0005430
name: Recurrent Neisserial infections
alt_id: HP:0005377
alt_id: HP:0005378
def: "Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Episodes of neisserial infection" EXACT []
synonym: "Recurrent neisseria infections" EXACT []
xref: UMLS:C3151083
is_a: HP:0005420 ! Recurrent gram-negative bacterial infections

[Term]
id: HP:0005432
name: Transient hypogammaglobulinemia of infancy
def: "At birth, newborns are endowed with maternal antibodies. IgG production normally begins at the age of two months. A delay in recovery from this physiological hypogammaglobulinemia between the 3rd and the 6th month of life, and of recovery period between 18 and 36 months defines transient newborn hypogammaglobulinemia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Newborn gammaglobulin deficiency" RELATED []
xref: SNOMEDCT_US:88714009
xref: UMLS:C0272238
xref: UMLS:C4020822
is_a: HP:0004313 ! Decreased circulating immunoglobulin concentration

[Term]
id: HP:0005435
name: obsolete Impaired T cell function
is_obsolete: true
replaced_by: HP:0011840

[Term]
id: HP:0005437
name: Recurrent infections in infancy and early childhood
def: "Recurrent infections at an early age with improvement in later childhood." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1844909
is_a: HP:0002719 ! Recurrent infections

[Term]
id: HP:0005439
name: Maxillozygomatic hypoplasia
def: "Hypoplasia of the maxillozygomatic complex." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased projection of zygomaticomaxillary bone complex" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of zygomaticomaxillary bone complex" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Deficiency of zygomaticomaxillary bone complex" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplasia of malar bone complex" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplasia of zygomaticomaxillary complex" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of zygomaticomaxillary bone complex" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1848908
xref: UMLS:C4280488
is_a: HP:0000327 ! Hypoplasia of the maxilla
is_a: HP:0010669 ! Hypoplasia of the zygomatic bone

[Term]
id: HP:0005441
name: Sclerotic cranial sutures
def: "An increased density in the cranial sutures following obliteration." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025195
is_a: HP:0011329 ! Abnormality of cranial sutures

[Term]
id: HP:0005442
name: Widely patent coronal suture
def: "The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1856778
is_a: HP:0011329 ! Abnormality of cranial sutures

[Term]
id: HP:0005445
name: Enlarged posterior fossa
def: "Abnormal increased size of the posterior cranial fossa." [PMID:28295149]
synonym: "Widened posterior fossa" EXACT []
xref: UMLS:C1855889
is_a: HP:0000932 ! Abnormal posterior cranial fossa morphology

[Term]
id: HP:0005446
name: Obtuse angle of mandible
def: "Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal." [https://orcid.org/0000-0002-0736-9199]
comment: See PMID:17213440 Figure 1G for an example of an obtuse mandibular angle.
synonym: "High mandibular plane angle" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Steep mandibular plane angle" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:709997007
xref: UMLS:C4038738
is_a: HP:0000277 ! Abnormal mandible morphology

[Term]
id: HP:0005449
name: Bridged sella turcica
xref: UMLS:C1866959
is_a: HP:0002681 ! Deformed sella turcica

[Term]
id: HP:0005450
name: Calvarial osteosclerosis
def: "An increase in bone density affecting the calvaria (roof of the skull)." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1855657
is_a: HP:0005464 ! Craniofacial osteosclerosis

[Term]
id: HP:0005451
name: Decreased cranial base ossification
xref: UMLS:C1835442
is_a: HP:0004331 ! Decreased skull ossification

[Term]
id: HP:0005453
name: Absent/hypoplastic paranasal sinuses
def: "Aplasia or hypoplasia of the paranasal sinuses." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
xref: UMLS:C1856639
is_a: HP:0009120 ! Aplasia/Hypoplasia involving the sinuses

[Term]
id: HP:0005456
name: Absent ethmoidal sinuses
def: "Lack (aplasia) of the ethmoidal sinus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Agenesis of ethmoid sinuses" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of ethmoid sinuses" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing ethmoid sinuses" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025194
is_a: HP:0002689 ! Absent paranasal sinuses
is_a: HP:3000040 ! Abnormality of ethmoid sinus

[Term]
id: HP:0005458
name: Premature closure of fontanelles
def: "Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-2972-5481]
synonym: "Early closure of the bregma sutures" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Early closure of the cranial sutures" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Early closure of the fontanelles" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Obliterated fontanelles" EXACT []
synonym: "Premature closure of the bregma sutures" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Premature closure of the cranial sutures" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Premature fontanel closure" EXACT []
xref: SNOMEDCT_US:1667003
xref: SNOMEDCT_US:57219006
xref: UMLS:C0010278
xref: UMLS:C0277827
xref: UMLS:C4072853
is_a: HP:0011328 ! Abnormal fontanelle morphology

[Term]
id: HP:0005461
name: Craniofacial disproportion
xref: UMLS:C1867114
is_a: HP:0001999 ! Abnormal facial shape

[Term]
id: HP:0005462
name: Calcification of falx cerebri
def: "The presence of calcium deposition in the falx cerebri." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1397139
is_a: HP:0002514 ! Cerebral calcification
is_a: HP:0010653 ! Abnormality of the falx cerebri

[Term]
id: HP:0005463
name: Elongated sella turcica
xref: UMLS:C1863311
is_a: HP:0002681 ! Deformed sella turcica

[Term]
id: HP:0005464
name: Craniofacial osteosclerosis
def: "Abnormally increased density of craniofacial bone tissue." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cranial sclerosis" RELATED []
xref: UMLS:C1845805
xref: UMLS:C4025193
is_a: HP:0011001 ! Increased bone mineral density
is_a: HP:0011821 ! Abnormal facial skeleton morphology

[Term]
id: HP:0005465
name: Facial hyperostosis
alt_id: HP:0008508
def: "Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Enlargement of facial bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Enlargement of facial skeleton" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Enlargement of the facial bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Excessive growth of facial bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Excessive growth of facial skeleton" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Hyperostosis of facial bones" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hyperostosis of facial skeleton" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypertrophy of facial bones" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypertrophy of facial skeleton" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypertrophy of the facial bones" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increase in size of the facial bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased ossification of facial bones" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased ossification of facial skeleton" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Overgrowth of facial bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Overgrowth of facial skeleton" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Overgrowth of the facial bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1857501
xref: UMLS:C4280485
xref: UMLS:C4280486
xref: UMLS:C4280487
is_a: HP:0004493 ! Craniofacial hyperostosis

[Term]
id: HP:0005466
name: Hypoplasia of the frontal bone
alt_id: HP:0005493
def: "Underdevelopment of the frontal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased size of bone of forehead" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplastic frontal bones" EXACT []
synonym: "Hypotrophic frontal bone" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypotrophic frontal bones" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Small bone of forehead" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thin bone of forehead" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of bone of forehead" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1845147
xref: UMLS:C4280483
xref: UMLS:C4280484
is_a: HP:0002692 ! Hypoplastic facial bones
is_a: HP:0011218 ! Abnormal shape of the frontal region

[Term]
id: HP:0005469
name: Flat occiput
alt_id: HP:0000247
alt_id: HP:0000249
def: "Reduced convexity of the occiput (posterior part of skull)." [PMID:19125436]
comment: Reduced convexity of the occiput gives an appearance of flattening. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Brachycephaly (which should be coded separately), and may be observed more frequently when an infant is placed to sleep on his/her back. Occipital plagiocephaly can result from fusion or sclerosis of the lambdoid suture. If unilateral, this is accompanied by unilateral occipital flattening and bulging of the ispilateral frontal bone.
subset: hposlim_core
synonym: "Flat back of skull" BROAD layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Flat back of the head" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Flat back of the skull" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Flat posterior cranium" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Flat posterior head" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Posterior flattening of the skull" EXACT []
xref: UMLS:C1837402
xref: UMLS:C4280482
is_a: HP:0011217 ! Abnormal shape of the occiput

[Term]
id: HP:0005472
name: Orbital craniosynostosis
xref: UMLS:C4025192
is_a: HP:0001363 ! Craniosynostosis
is_a: HP:3000030 ! Abnormal morphology of bony orbit of skull

[Term]
id: HP:0005473
name: Fusion of middle ear ossicles
def: "Bony fusion of malleus, incus, and stapes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fused ossicles" EXACT []
xref: UMLS:C1862068
is_a: HP:0004452 ! Abnormality of the middle ear ossicles
is_a: HP:0100240 ! Synostosis of joints

[Term]
id: HP:0005474
name: Decreased calvarial ossification
alt_id: HP:0002701
alt_id: HP:0002702
alt_id: HP:0005454
alt_id: HP:0005471
def: "Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone)." [https://orcid.org/0000-0001-8612-1062, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-2972-5481, PMID:31173381]
comment: A hypomineralised skull castes little or no acoustic shadow on prenatal ultrasound. This makes visualization of the intracranial anatomy clearer than normal. In conditions associated with profound hypomineralisation, the skull shape can be distorted by pressure from the ultrasound transducer later in pregnancy.
synonym: "Poorly ossified calvaria" EXACT []
synonym: "Poorly ossified calvarium" EXACT []
synonym: "Skull soft on palpation" RELATED []
synonym: "Soft calvaria" EXACT []
synonym: "Soft skullcap" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Undermineralized calvarium" EXACT []
xref: UMLS:C1833762
is_a: HP:0002683 ! Abnormal calvaria morphology
is_a: HP:0004331 ! Decreased skull ossification

[Term]
id: HP:0005476
name: Widely patent sagittal suture
def: "The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1856779
is_a: HP:0011329 ! Abnormality of cranial sutures

[Term]
id: HP:0005477
name: Progressive sclerosis of skull base
def: "Progressively increasing bone density of the skull base without significant changes in bony contour." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1835470
is_a: HP:0002694 ! Sclerosis of skull base

[Term]
id: HP:0005478
name: Prominent frontal sinuses
synonym: "Hyperplasia of frontal sinus" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypertrophy of frontal sinus" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased size of frontal sinus" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased volume of frontal sinus" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Large frontal sinus" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1969404
xref: UMLS:C4280265
xref: UMLS:C4280479
xref: UMLS:C4280480
xref: UMLS:C4280481
is_a: HP:0002687 ! Abnormality of frontal sinus

[Term]
id: HP:0005479
name: Decreased circulating IgE concentration
alt_id: HP:0002854
def: "An abnormally decreased level of immunoglobulin E (IgE) in blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased circulating IgE" EXACT []
synonym: "Decreased IgE" EXACT []
synonym: "IgE deficiency" EXACT []
xref: UMLS:C0860904
is_a: HP:0004313 ! Decreased circulating immunoglobulin concentration
is_a: HP:0410241 ! Abnormal circulating IgE concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-26T08:03:00Z

[Term]
id: HP:0005482
name: Abnormality of the alternative complement pathway
def: "A deviation in any aspect of the alternative complement pathway." []
comment: The alternative complement pathway is one of three complement pathways, which is an innate component of the immune system's natural defense against infections. The alternative complement pathway has three unique components, factor B, factor D, and properdin. {xref="PMID:16424154"}
xref: UMLS:C4025191
is_a: HP:0005339 ! Abnormality of complement system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-26T08:12:00Z

[Term]
id: HP:0005483
name: Abnormal epiglottis morphology
def: "An abnormality of the epiglottis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the epiglottis" EXACT []
xref: UMLS:C4025190
is_a: HP:0025423 ! Abnormal larynx morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-26T08:25:00Z

[Term]
id: HP:0005484
name: Secondary microcephaly
alt_id: HP:0000241
alt_id: HP:0000259
alt_id: HP:0005499
def: "Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth." [https://orcid.org/0000-0002-0736-9199]
synonym: "Acquired microcephaly" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Deceleration of head growth" EXACT []
synonym: "Development of small head that was not present at birth" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Microcephaly, acquired" EXACT []
synonym: "Microcephaly, postnatal" EXACT []
synonym: "Postnatal deceleration of head circumference" EXACT []
synonym: "Postnatal microcephaly" EXACT []
xref: UMLS:C1847514
is_a: HP:0000252 ! Microcephaly

[Term]
id: HP:0005486
name: Small fontanelle
def: "A fontanelle that is small for age." [https://orcid.org/0000-0002-0736-9199, PMID:12825844]
subset: hposlim_core
synonym: "Little cranial sutures" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Little fontanelle" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Microfontanelle" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Small bregma sutures" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Small cranial sutures" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Small soft spot" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:276710001
xref: UMLS:C0456133
xref: UMLS:C4072854
xref: UMLS:C4072855
is_a: HP:0011328 ! Abnormal fontanelle morphology

[Term]
id: HP:0005487
name: Prominent metopic ridge
alt_id: HP:0005488
alt_id: HP:0005751
def: "Vertical bony ridge positioned in the midline of the forehead." [https://orcid.org/0000-0002-0736-9199, PMID:19125436]
comment: The ridge may extend from the hairline to the glabella or may be partial. The frontal suture of the skull is a dense connective tissue structure that divides the two halves of the frontal bone of the skull in infants and children and usually undergoes closure by the age of six years. A persistent frontal suture is known as a metopic suture or sutura frontalis persistens. This can lead to a ridged appearance of the forehead.
subset: hposlim_core
synonym: "Prominent frontal ridge" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Prominent frontal suture" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Prominent metopic suture" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Ridging of frontal suture" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Ridging of metopic suture" EXACT []
xref: UMLS:C1857949
is_a: HP:0005556 ! Abnormality of the metopic suture

[Term]
id: HP:0005490
name: Postnatal macrocephaly
def: "The postnatal development of an abnormally large skull (macrocephaly)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Macrocephaly, postnatal" EXACT []
xref: UMLS:C1854417
is_a: HP:0000256 ! Macrocephaly

[Term]
id: HP:0005494
name: Premature posterior fontanelle closure
xref: UMLS:C1839126
is_a: HP:0005458 ! Premature closure of fontanelles

[Term]
id: HP:0005495
name: Metopic suture patent to nasal root
def: "The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root." [https://orcid.org/0000-0002-0736-9199, PMID:11711818]
comment: This feature is a characteristic of Schinzel-Giedion midface retraction syndrome.
xref: UMLS:C4025189
is_a: HP:0005556 ! Abnormality of the metopic suture

[Term]
id: HP:0005498
name: Midline skin dimples over anterior/posterior fontanelles
xref: UMLS:C1855690
is_a: HP:0000236 ! Abnormal anterior fontanelle morphology

[Term]
id: HP:0005502
name: Increased red cell osmotic fragility
synonym: "Increased erythrocyte osmotic fragility" EXACT []
synonym: "Increased red cell fragility" EXACT []
xref: UMLS:C1849478
is_a: HP:0020054 ! Abnormal erythrocyte physiology

[Term]
id: HP:0005505
name: Refractory anemia
synonym: "Refractory anaemia" EXACT uk_spelling []
xref: SNOMEDCT_US:128845005
xref: UMLS:C0002893
is_a: HP:0001903 ! Anemia

[Term]
id: HP:0005506
name: Chronic myelogenous leukemia
alt_id: HP:0005544
def: "A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate." [https://orcid.org/0000-0002-0736-9199]
synonym: "Chronic myelocytic leukaemia" EXACT uk_spelling []
synonym: "Chronic myelocytic leukemia" EXACT []
synonym: "Chronic myelogenous leukaemia" EXACT uk_spelling []
synonym: "Chronic myeloid leukaemia" EXACT uk_spelling []
synonym: "Chronic myeloid leukemia" EXACT []
xref: DOID:8552 "chronic myeloid leukemia"
xref: SNOMEDCT_US:63364005
xref: SNOMEDCT_US:92818009
xref: UMLS:C0023473
is_a: HP:0005558 ! Chronic leukemia

[Term]
id: HP:0005507
name: Hemoglobin Barts
def: "Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues." [https://orcid.org/0000-0002-0736-9199]
comment: Hb Bart is normally not present in adult blood. It makes up about 85-90 percent of hemoglobin in Hb Bart hydrops fetalis syndrome, and about 2-5 percent in HbH disease.
synonym: "Haemoglobin Barts" EXACT uk_spelling []
synonym: "Hb Barts" EXACT abbreviation []
xref: UMLS:C3539063
is_a: HP:0011902 ! Abnormal hemoglobin

[Term]
id: HP:0005508
name: Monoclonal immunoglobulin M proteinemia
def: "Presence of a monoclonal immunoglobulin M protein in the serum." [https://orcid.org/0000-0002-0736-9199, PMID:25815903]
comment: This is a characteristic feature of Waldenstrom macroglobulinemia (WM), which is defined as a B-cell lymphoplasmacytic lymphoma, characterized by monoclonal immunoglobulin M protein in the serum and infiltration of bone marrow with lymphoplasmacytic cells.
synonym: "Waldenstrom macroglobulinemia" RELATED []
xref: SNOMEDCT_US:190817009
xref: SNOMEDCT_US:190818004
xref: SNOMEDCT_US:35562000
xref: UMLS:C0024419
is_a: HP:0003496 ! Increased circulating IgM level
is_a: HP:0005523 ! Lymphoproliferative disorder
is_a: HP:0031047 ! Paraproteinemia

[Term]
id: HP:0005510
name: Transient erythroblastopenia
def: "A transient reduction in the number of erythroblasts in the circulation." [https://orcid.org/0000-0002-0736-9199]
comment: An erythroblast, the immediate precursor of a normal erythrocyte which, still retains a cell nucleus.
synonym: "Transient decrease in blood erythrocyte number" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4082199
is_a: HP:0001903 ! Anemia

[Term]
id: HP:0005511
name: Heinz body anemia
def: "Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells." [https://orcid.org/0000-0002-0736-9199]
synonym: "Heinz body anaemia" EXACT uk_spelling []
xref: UMLS:C0700299
is_a: HP:0001878 ! Hemolytic anemia

[Term]
id: HP:0005512
name: obsolete Impaired neutrophil killing of staphylococci
is_obsolete: true
replaced_by: HP:0003203

[Term]
id: HP:0005513
name: Increased megakaryocyte count
def: "Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025187
is_a: HP:0012143 ! Abnormal megakaryocyte morphology

[Term]
id: HP:0005517
name: T-cell lymphoma/leukemia
def: "A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas." [https://orcid.org/0000-0002-0736-9199]
comment: T-cell lymphoma/leukemia is linked to infection by the human T-cell lymphotropic virus 1 (HTLV-1).
xref: UMLS:C4025186
is_a: HP:0012190 ! T-cell lymphoma

[Term]
id: HP:0005518
name: Increased mean corpuscular volume
alt_id: HP:0005536
def: "Larger than normal size of erythrocytes." [https://orcid.org/0000-0002-0736-9199]
comment: Macrocytosis refers to a mean cell volume (MCV) greater than 100 fL. If macrocytosis is an isolated abnormality, the amount of hemoglobin in the cell increases proportionately, so the mean cell hemoglobin concentration (MCHC) remains within normal limits.
synonym: "Erythrocyte macrocytosis" EXACT []
synonym: "Increased MCV" EXACT abbreviation []
xref: UMLS:C0855791
is_a: HP:0025065 ! Abnormal mean corpuscular volume

[Term]
id: HP:0005520
name: Chronic disseminated intravascular coagulation
def: "A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced." [https://orcid.org/0000-0002-0736-9199]
synonym: "Chronic consumption coagulopathy" EXACT []
synonym: "Compensated disseminated intravascular coagulation" EXACT []
xref: UMLS:C1862184
is_a: HP:0005521 ! Disseminated intravascular coagulation

[Term]
id: HP:0005521
name: Disseminated intravascular coagulation
def: "Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels." [https://orcid.org/0000-0002-0736-9199, PMID:10451465, PMID:11816725]
comment: DIC is a complex syndrome in which there is pathological generation of thrombin and diffuse intravascular clot formation. DIC may occur as acute decompensated or chronic compensated form. In acute decompensated DIC, there is a sudden massive exposure of tissue factor over a brief time period; Intravascular coagulation can also compromise the blood supply to organs and, in conjunction with hemodynamic and metabolic derangements, may contribute to the failure of multiple organs. At the same time, the use and subsequent depletion of platelets and coagulation proteins resulting from the ongoing coagulation may induce severe bleeding. Chronic DIC, also known as compensated DIC, results from a persistent weak or intermittent activating stimulus. Under such conditions, destruction and production of coagulation factors and platelets are balanced.
xref: SNOMEDCT_US:67406007
xref: UMLS:C0012739
is_a: HP:0001977 ! Abnormal thrombosis

[Term]
id: HP:0005522
name: Pyridoxine-responsive sideroblastic anemia
def: "A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment." [https://orcid.org/0000-0002-0736-9199]
synonym: "Pyridoxine-responsive sideroblastic anaemia" EXACT uk_spelling []
xref: SNOMEDCT_US:191260004
xref: SNOMEDCT_US:25443007
xref: UMLS:C0272027
is_a: HP:0001924 ! Sideroblastic anemia

[Term]
id: HP:0005523
name: Lymphoproliferative disorder
synonym: "Lymphoproliferative disorders" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:277466009
xref: SNOMEDCT_US:414629003
xref: SNOMEDCT_US:77121009
xref: SNOMEDCT_US:84631004
xref: UMLS:C0024314
is_a: HP:0004377 ! Hematological neoplasm

[Term]
id: HP:0005524
name: Macrocytic hemolytic disease
xref: UMLS:C4025185
is_a: HP:0001878 ! Hemolytic anemia

[Term]
id: HP:0005525
name: Spontaneous hemolytic crises
xref: UMLS:C4025184
is_a: HP:0001878 ! Hemolytic anemia

[Term]
id: HP:0005526
name: Lymphoid leukemia
def: "A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias." [NCIT:C7539]
synonym: "Lymphoid leukaemia" EXACT uk_spelling []
xref: SNOMEDCT_US:188725004
xref: SNOMEDCT_US:32280000
xref: UMLS:C0023448
is_a: HP:0001909 ! Leukemia

[Term]
id: HP:0005527
name: Reduced kininogen activity
alt_id: HP:0004867
alt_id: HP:0005500
alt_id: HP:0005530
alt_id: HP:0005538
def: "Reduction in the amount of kininogen, which functions as a cofactor in the contact phase of the intrinsic blood coagulation cascade." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-7744-1790]
comment: Kininogen is cleaved into the following 6 chains: 1) Kininogen-1 heavy chain; 2) T-kinin; 3) Bradykinin; 4) Lysyl-bradykinin; 5) Kininogen-1 light chain; and 6) Low molecular weight growth-promoting factor.
synonym: "Fitzgerald factor deficiency" EXACT []
synonym: "Kininogen deficiency" EXACT []
synonym: "Williams factor deficiency" EXACT []
synonym: "Williams-Fitzgerald-Flaujeac factor deficiency" EXACT []
xref: SNOMEDCT_US:27312002
xref: UMLS:C0272340
is_a: HP:0005559 ! Abnormality of the kinin-kallikrein system
is_a: HP:0010989 ! Abnormality of the intrinsic pathway

[Term]
id: HP:0005528
name: Bone marrow hypocellularity
alt_id: HP:0005529
alt_id: HP:0100549
def: "A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-7744-1790]
synonym: "Bone marrow failure" EXACT layperson []
synonym: "Bone marrow hypoplasia" EXACT []
synonym: "Hypoplastic bone marrow" EXACT []
synonym: "Myeloid hypoplasia" EXACT []
xref: UMLS:C1855710
is_a: HP:0012145 ! Abnormality of multiple cell lineages in the bone marrow

[Term]
id: HP:0005531
name: Biphenotypic acute leukemia
def: "A type of actue leukemia with features characteristic of both the myeloid and lymphoid lineages. These leukemias are for this reason are designated mixed-lineage, hybrid or biphenotypic acute leukemias." [https://orcid.org/0000-0002-0736-9199, PMID:9107085]
synonym: "Acute biphenotypic leukaemia" EXACT uk_spelling []
synonym: "Biphenotypic acute leukaemia" EXACT uk_spelling []
synonym: "Myeloid/lymphoid leukaemia" EXACT uk_spelling []
synonym: "Myeloid/lymphoid leukemia" EXACT []
xref: SNOMEDCT_US:128818009
xref: SNOMEDCT_US:278453007
xref: UMLS:C0023464
is_a: HP:0002488 ! Acute leukemia

[Term]
id: HP:0005532
name: Macrocytic dyserythropoietic anemia
synonym: "Macrocytic dyserythropoietic anaemia" EXACT uk_spelling []
xref: UMLS:C4025183
is_a: HP:0001972 ! Macrocytic anemia

[Term]
id: HP:0005534
name: Transient myeloproliferative syndrome
def: "A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts." [PMID:22966823]
synonym: "TMD" EXACT abbreviation []
synonym: "Transient leukaemia of Down syndrome" EXACT uk_spelling []
synonym: "Transient leukemia of Down syndrome" EXACT []
synonym: "Transient myeloproliferative disorder" EXACT []
xref: SNOMEDCT_US:450934005
xref: UMLS:C1834582
is_a: HP:0005547 ! Myeloproliferative disorder

[Term]
id: HP:0005535
name: Exercise-induced hemolysis
def: "A form of hemolytic anemia that can be triggered by exertion." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025182
is_a: HP:0001878 ! Hemolytic anemia

[Term]
id: HP:0005537
name: Decreased mean platelet volume
alt_id: HP:0001938
def: "Average platelet volume below the lower limit of the normal reference interval." [https://orcid.org/0000-0002-7744-1790]
comment: Mean platelet volume (MPV) is a measure of the average size of platelets, with a typical reference range of 7.5 to 11.5 femtoliters (fL).
synonym: "Small platelet size" EXACT layperson []
synonym: "Small platelets" EXACT layperson []
synonym: "Small platelets size" EXACT layperson []
xref: UMLS:C1096368
xref: UMLS:C1833182
is_a: HP:0011876 ! Abnormal platelet volume

[Term]
id: HP:0005539
name: T cell chronic lymphocytic lymphoma/leukemia
def: "A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent." [ISBN:9780721600406]
xref: UMLS:C4025181
is_a: HP:0005526 ! Lymphoid leukemia

[Term]
id: HP:0005540
name: Red blood cell keratocytosis
def: "A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns." [https://orcid.org/0000-0002-0736-9199]
comment: Kerato- is derived from the Greek word for horn.
synonym: "Distorted red blood cells resembling keratocytes" EXACT []
synonym: "RBC keratocytosis" EXACT abbreviation []
xref: UMLS:C4021635
is_a: HP:0004447 ! Poikilocytosis

[Term]
id: HP:0005541
name: Congenital agranulocytosis
def: "Persistent absence of detectable circulating granulocytes in the blood with no detected secondary cause. Usually a value of less than 50 granulocytes per microliter is considered to be an absence." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:89655007
xref: UMLS:C1853118
is_a: HP:0012234 ! Absence of circulating granulocytes

[Term]
id: HP:0005542
name: Prolonged whole-blood clotting time
alt_id: HP:0003229
def: "An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot." [https://orcid.org/0000-0002-0736-9199]
synonym: "Prolonged clotting time" EXACT []
xref: UMLS:C0151563
is_a: HP:0001928 ! Abnormality of coagulation

[Term]
id: HP:0005543
name: Reduced protein C activity
def: "An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va." [https://orcid.org/0000-0002-0736-9199]
comment: Protein C can function as an anticoagulant by irreversibly proteolytically inactivating Factor Va and Factor VIIIa. Therefore, a defect in protein C is associated with an increased risk of thrombosis.
synonym: "Protein C deficiency" EXACT []
xref: SNOMEDCT_US:76407009
xref: UMLS:C0398625
is_a: HP:0030780 ! Abnormality of the protein C anticoagulant pathway

[Term]
id: HP:0005546
name: Increased red cell osmotic resistance
xref: UMLS:C1858628
is_a: HP:0020054 ! Abnormal erythrocyte physiology

[Term]
id: HP:0005547
name: Myeloproliferative disorder
def: "Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential." [https://orcid.org/0000-0002-0736-9199]
comment: There are four main myeloproliferative disroders, 1) chronic myelogenous leukemia (CML); 2) Polycythemia vera; 3) Essential thrombocytosis; and 4) Myelofibrosis.
xref: SNOMEDCT_US:414794006
xref: SNOMEDCT_US:425333006
xref: UMLS:C0027022
is_a: HP:0001909 ! Leukemia

[Term]
id: HP:0005548
name: Megakaryocytopenia
def: "A reduced count of megakaryocytes." [https://orcid.org/0000-0002-0736-9199]
comment: Megakaryocytes are giant cells in the bone marrow. Mature blood platelets are released from the cytoplasm of megakaryocytes.
synonym: "Megakaryocytes decreased im bone marrow" EXACT []
xref: UMLS:C1858312
is_a: HP:0012143 ! Abnormal megakaryocyte morphology

[Term]
id: HP:0005549
name: obsolete Congenital neutropenia
comment: This term was obsoleted - for annotation of congenital neutropenia, please use the class HP_0001875 Neutropenia and the Modifier Congenital Onset.
is_obsolete: true
consider: HP:0001875

[Term]
id: HP:0005550
name: Chronic lymphatic leukemia
alt_id: HP:0006734
alt_id: HP:0006760
def: "A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias." [https://orcid.org/0000-0002-0736-9199]
synonym: "Chronic lymphatic leukaemia" EXACT uk_spelling []
synonym: "Chronic lymphocytic leukaemia" EXACT uk_spelling []
synonym: "Chronic lymphocytic leukemia" EXACT []
xref: SNOMEDCT_US:277473004
xref: SNOMEDCT_US:51092000
xref: SNOMEDCT_US:92814006
xref: UMLS:C0023434
is_a: HP:0005558 ! Chronic leukemia

[Term]
id: HP:0005556
name: Abnormality of the metopic suture
def: "The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a \"metopic suture\"." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025180
is_a: HP:0000290 ! Abnormal forehead morphology
is_a: HP:0011329 ! Abnormality of cranial sutures
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-27T10:04:00Z

[Term]
id: HP:0005557
name: Abnormal zygomatic arch morphology
def: "An abnormality of the zygomatic arch, also known as the cheek bone." [https://orcid.org/0000-0002-0736-9199]
comment: The zygomatic arch is formed by the zygomatic process of temporal bone and the temporal process of the zygomatic bone.
synonym: "Abnormality of the malar arch" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the zygomatic arch" EXACT []
synonym: "Anomaly of the malar arch" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Anomaly of the zygomatic arch" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the malar arch" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the zygomatic arch" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the malar arch" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the zygomatic arch" NARROW [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025179
is_a: HP:0010668 ! Abnormal zygomatic bone morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-27T10:20:00Z

[Term]
id: HP:0005558
name: Chronic leukemia
def: "A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia." [NCIT:C3483]
synonym: "Chronic blood cancer" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Chronic leukaemia" EXACT uk_spelling []
xref: SNOMEDCT_US:128933000
xref: SNOMEDCT_US:92812005
xref: UMLS:C1279296
xref: UMLS:C4280478
is_a: HP:0001909 ! Leukemia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-27T10:32:00Z

[Term]
id: HP:0005559
name: Abnormality of the kinin-kallikrein system
xref: UMLS:C4025178
is_a: HP:0010876 ! Abnormal circulating protein concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-27T10:34:00Z

[Term]
id: HP:0005560
name: Imbalanced hemoglobin synthesis
def: "Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia." [https://orcid.org/0000-0002-0736-9199]
comment: While imbalanced hemoglobin synthesis can be inferred from other findings including those of hemoglobin electrophoresis, the determination of this feature requires investigation of hemoglobin synthesis in vitro, e.g., by incubation of washed peripheral blood erythrocytes and bone marrow cells with radioactively labeled leucine followed by column chromatography.
synonym: "Imbalanced haemoglobin synthesis" EXACT uk_spelling []
synonym: "Imbalanced Hb synthesis" EXACT abbreviation []
xref: UMLS:C4025177
is_a: HP:0011902 ! Abnormal hemoglobin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-27T10:44:00Z

[Term]
id: HP:0005561
name: Abnormal bone marrow cell morphology
def: "An anomaly of the form or number of cells in the bone marrow." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-7744-1790]
synonym: "Abnormality of bone marrow cell morphology" EXACT []
synonym: "Anomaly of the bone marrow cells" EXACT []
synonym: "Bone marrow disease" RELATED layperson []
xref: SNOMEDCT_US:127035006
xref: UMLS:C0005956
xref: UMLS:C4021634
is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-27T10:46:00Z

[Term]
id: HP:0005562
name: Multiple renal cysts
def: "The presence of many cysts in the kidney." [HPO_CONTRIBUTOR:Eurenomics_ewuehl]
synonym: "Multiple kidney cysts" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:253883006
xref: UMLS:C0431718
is_a: HP:0000107 ! Renal cyst

[Term]
id: HP:0005563
name: Decreased numbers of nephrons
def: "A reduction in the count of nephrons per kidney." [HPO_CONTRIBUTOR:Eurenomics_ewuehl]
synonym: "Decreased numbers of glomeruli" RELATED []
synonym: "Oligonephronia" EXACT []
xref: UMLS:C1841994
xref: UMLS:C2673888
is_a: HP:0012575 ! Abnormal nephron morphology

[Term]
id: HP:0005564
name: Absence of renal corticomedullary differentiation
alt_id: HP:0005581
def: "A lack of differentiation between renal cortex and medulla on diagnostic imaging." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent renal corticomedullary differentiation" EXACT []
synonym: "Loss of corticomedullary differentiation" EXACT []
xref: UMLS:C1849765
is_a: HP:0005932 ! Abnormal renal corticomedullary differentiation

[Term]
id: HP:0005565
name: Reduced renal corticomedullary differentiation
alt_id: HP:0005573
def: "Reduced differentiation between renal cortex and medulla on diagnostic imaging." [https://orcid.org/0000-0002-0736-9199]
synonym: "Loss of definition of corticomedullary differentiation" EXACT []
xref: UMLS:C3807131
is_a: HP:0005932 ! Abnormal renal corticomedullary differentiation

[Term]
id: HP:0005567
name: Renal magnesium wasting
def: "High urine magnesium in the presence of hypomagnesemia." [HPO_CONTRIBUTOR:Eurenomics_ewuehl]
xref: UMLS:C1835171
is_a: HP:0012607 ! Abnormal urine magnesium concentration

[Term]
id: HP:0005571
name: Increased renal tubular phosphate reabsorption
synonym: "Increased percent tubular reabsorption of phosphorus" EXACT []
xref: UMLS:C1968910
is_a: HP:0011038 ! Abnormal renal tubular resorption

[Term]
id: HP:0005572
name: Decreased renal tubular phosphate excretion
xref: UMLS:C1968899
is_a: HP:0011036 ! Abnormality of renal excretion

[Term]
id: HP:0005574
name: Non-acidotic proximal tubulopathy
def: "A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025176
is_a: HP:0000114 ! Proximal tubulopathy

[Term]
id: HP:0005575
name: Hemolytic-uremic syndrome
def: "A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease." [PMID:19846853, PMID:28416508]
synonym: "Hemolytic uremic syndrome" EXACT []
xref: SNOMEDCT_US:111407006
xref: UMLS:C0019061
is_a: HP:0012211 ! Abnormal renal physiology

[Term]
id: HP:0005576
name: Tubulointerstitial fibrosis
alt_id: HP:0000129
alt_id: HP:0004714
alt_id: HP:0008171
def: "A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy." [https://orcid.org/0000-0002-0736-9199, PMID:19144691, PMID:22449945]
comment: This finding is usually shown by renal biopsy. Fibrosis involves an excess accumulation of extracellular matrix and usually results in loss of function when normal tissue is replaced with scar tissue. Tubulointerstitial renal fibrosis, characterized as a progressive detrimental connective tissue deposition on the kidney parenchyma, appears to be a harmful process leading inevitably to renal function deterioration, independently of the primary renal disease which causes the original kidney injury. Epithelial to Mesenchymal Transition (EMT) of tubular epithelial cells which are transformed to mesenchymal fibroblasts migrating to adjacent interstitial parenchyma constitutes the principal mechanism of renal fibrosis along with local and circulating cells. (PMID:20011086)
synonym: "Tubulointerstitial renal fibrosis" EXACT []
synonym: "Tubulointerstitial scarring" RELATED []
xref: UMLS:C1969372
is_a: HP:0001969 ! Abnormal tubulointerstitial morphology
is_a: HP:0030760 ! Renal fibrosis

[Term]
id: HP:0005579
name: Impaired renal tubular reabsorption of chloride
def: "Any impairment of reabsorption of chloride by the kidney." [PMID:25820368]
synonym: "Impaired reabsorption of Cl" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961]
synonym: "Impaired reabsorption of Cl-" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961]
xref: UMLS:C1846349
is_a: HP:0011038 ! Abnormal renal tubular resorption

[Term]
id: HP:0005580
name: Duplication of renal pelvis
def: "A duplication of the renal pelvis." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1839269
is_a: HP:0000075 ! Renal duplication
is_a: HP:0010944 ! Abnormal renal pelvis morphology

[Term]
id: HP:0005583
name: Tubular basement membrane disintegration
alt_id: HP:0005577
def: "DIsruption and breaking up of the basement membrane of the tubules of the kidney." [https://orcid.org/0000-0002-0736-9199]
comment: Throughout the rest of the nephron, tubule epithelial cells are attached to the tubular basement membrane that overlies the subjacent interstitial connective tissue. The disruption of cell-basement membrane adhesion results in loss of cell orientation, abnormal cell function, and can lead to tissue destruction.
synonym: "Disintegration of the tubular basement membrane" EXACT []
xref: UMLS:C1968618
is_a: HP:0020131 ! Abnormal tubular basement membrane morphology

[Term]
id: HP:0005584
name: Renal cell carcinoma
alt_id: HP:0006720
def: "A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule." [https://orcid.org/0000-0002-0736-9199]
comment: Renal cell carcinoma (also known as hypernephroma) is the most common form of kidney cancer arising from the proximal renal tubule. The tissue of origin for renal cell carcinoma is the proximal renal tubular epithelium. Renal cell carcinoma can be classified as 1) clear cell carcinoma, 2) papillary carcinoma, 3) chromophobe renal carcinoma, and 4) collecting duct carcinoma.
synonym: "Cancer starting in small tubes in kidneys" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Hypernephroma" EXACT []
synonym: "Renal carcinoma" EXACT []
xref: NCIT:C2916
xref: SNOMEDCT_US:41607009
xref: SNOMEDCT_US:702391001
xref: UMLS:C0007134
is_a: HP:0009726 ! Renal neoplasm

[Term]
id: HP:0005585
name: Spotty hyperpigmentation
synonym: "Patchy hyperpigmentation" EXACT []
synonym: "Spotty increased pigmentation" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C3806179
is_a: HP:0007400 ! Irregular hyperpigmentation

[Term]
id: HP:0005586
name: Hyperpigmentation in sun-exposed areas
synonym: "Hyperpigmentation of exposed areas" EXACT []
synonym: "Increased pigmentation in sun-exposed areas" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C3805877
is_a: HP:0000953 ! Hyperpigmentation of the skin

[Term]
id: HP:0005587
name: Profuse pigmented skin lesions
xref: UMLS:C1834424
is_a: HP:0001000 ! Abnormality of skin pigmentation

[Term]
id: HP:0005588
name: Patchy palmoplantar hyperkeratosis
def: "A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected." [https://orcid.org/0000-0002-0736-9199]
comment: Patchy palmoplantar keratoderma may develop at sites of recurrent friction.
synonym: "Palmoplantar keratoderma, patchy" EXACT []
synonym: "Patchy palmoplantar keratoderma" EXACT []
xref: UMLS:C4021633
is_a: HP:0000972 ! Palmoplantar hyperkeratosis

[Term]
id: HP:0005590
name: Spotty hypopigmentation
synonym: "Patchy depigmentation" EXACT []
synonym: "Patchy hypopigmentation" EXACT layperson []
synonym: "Spotty decreased pigmentation" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C3806178
is_a: HP:0001053 ! Hypopigmented skin patches

[Term]
id: HP:0005592
name: Giant melanosomes in melanocytes
alt_id: HP:0003342
def: "The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes." [https://orcid.org/0000-0002-0736-9199]
comment: Giant melanosomes can be seen in cafe-au-lait spots and other melanocytic disorders. Giant melanosome and giant melanosome are synonymous. Macromelanosomes can be detected by electron microscopy of the skin.
synonym: "Macromelanosomes" EXACT []
xref: UMLS:C3806221
is_a: HP:0011125 ! Abnormality of dermal melanosomes

[Term]
id: HP:0005593
name: Macular hypopigmented whorls, streaks, and patches
xref: UMLS:C3806616
is_a: HP:0001053 ! Hypopigmented skin patches

[Term]
id: HP:0005595
name: Generalized hyperkeratosis
synonym: "Generalised hyperkeratosis" EXACT uk_spelling []
synonym: "Hyperkeratosis, generalised" EXACT uk_spelling []
synonym: "Hyperkeratosis, generalized" EXACT []
xref: UMLS:C1969913
is_a: HP:0000962 ! Hyperkeratosis

[Term]
id: HP:0005597
name: Congenital alopecia totalis
def: "Loss of all scalp hair with congenital onset." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025175
is_a: HP:0007418 ! Alopecia totalis

[Term]
id: HP:0005598
name: Facial telangiectasia in butterfly midface distribution
def: "Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution." [https://orcid.org/0000-0002-0736-9199]
synonym: "Butterfly facial telangiectasia" EXACT []
xref: UMLS:C4021632
is_a: HP:0007380 ! Facial telangiectasia

[Term]
id: HP:0005599
name: Hypopigmentation of hair
subset: hposlim_core
synonym: "Hair hypopigmentation" EXACT []
synonym: "Loss of hair color" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Loss of hair colour" EXACT uk_spelling []
xref: UMLS:C3278401
is_a: HP:0009887 ! Abnormality of hair pigmentation

[Term]
id: HP:0005600
name: Congenital giant melanocytic nevus
alt_id: HP:0005604
def: "The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child." [https://orcid.org/0000-0002-0736-9199, PMID:21139903]
comment: Between 4% and 6% of these lesions will develop into a malignant melanoma.
synonym: "Giant pigmented hairy nevus" EXACT []
synonym: "Giant pigmented mole" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Giant pigmented nevus" EXACT []
xref: SNOMEDCT_US:10291008
xref: SNOMEDCT_US:254815002
xref: UMLS:C1842036
is_a: HP:0000995 ! Melanocytic nevus

[Term]
id: HP:0005602
name: Progressive vitiligo
xref: UMLS:C3806428
is_a: HP:0001045 ! Vitiligo

[Term]
id: HP:0005603
name: Numerous congenital melanocytic nevi
xref: UMLS:C3806415
is_a: HP:0000995 ! Melanocytic nevus

[Term]
id: HP:0005605
name: Large cafe-au-lait macules with irregular margins
def: "Large hypermelanotic macules with jagged borders." [https://orcid.org/0000-0002-0736-9199]
comment: This type of lesionk is observed in McCune Albright syndrome. The cafe-au-lait macules are larger than those seen in neurofibromatosis, and have more irregular borders. The borders of these macules have been compared to the coast of Maine, whereas the cafe-au-lait spots in neurofibromatosis type 1 have been compared to the coast of California.
xref: UMLS:C4025174
is_a: HP:0001034 ! Hypermelanotic macule

[Term]
id: HP:0005606
name: Hyperpigmented nevi and streak
xref: UMLS:C3805692
is_a: HP:0000995 ! Melanocytic nevus

[Term]
id: HP:0005607
name: Abnormal tracheobronchial morphology
alt_id: HP:0005940
synonym: "Tracheobronchial anomalies" EXACT []
xref: Fyler:4232
xref: UMLS:C4021631
is_a: HP:0012252 ! Abnormal respiratory system morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T09:03:00Z

[Term]
id: HP:0005608
name: Bilobate gallbladder
def: "The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium." [https://orcid.org/0000-0002-0736-9199, PMID:14571173, PMID:16553121, PMID:21170223]
comment: During the fifth or early sixth embryonic week, occasionally, the gallbladder primordium bifurcates and results in duplication of gallbladder. Duplication results from a split primordium whilst a true accessory gallbladder results from an extra primordium. There are no specific symptoms or signs associated with multiple gallbladders.
synonym: "Bilobed gallbladder" EXACT []
synonym: "Double gallbladder" EXACT []
synonym: "Gallbladder duplication" EXACT []
synonym: "Gallbladder septated" EXACT []
xref: UMLS:C1846422
is_a: HP:0034504 ! Septate gallbladder

[Term]
id: HP:0005609
name: Gallbladder dysfunction
synonym: "Gallbladder dysfunction" EXACT layperson []
xref: SNOMEDCT_US:51047007
xref: UMLS:C0232769
is_a: HP:0012438 ! Abnormal gallbladder physiology

[Term]
id: HP:0005612
name: Arthrogryposis-like hand anomaly
xref: UMLS:C4025173
is_a: HP:0005684 ! Distal arthrogryposis

[Term]
id: HP:0005613
name: Aplasia/hypoplasia of the femur
alt_id: HP:0006396
alt_id: HP:0006425
def: "Absence or underdevelopment of the femur." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Hypoplastic to absent femora" EXACT []
synonym: "Hypoplastic/aplastic femora" EXACT []
xref: UMLS:C1851310
is_a: HP:0002823 ! Abnormal femur morphology
is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs

[Term]
id: HP:0005616
name: Accelerated skeletal maturation
alt_id: HP:0002649
alt_id: HP:0005854
def: "An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [https://orcid.org/0000-0002-0736-9199]
synonym: "Advanced bone age" EXACT layperson []
synonym: "Early bone maturation" EXACT layperson []
xref: SNOMEDCT_US:123982003
xref: UMLS:C0545053
is_a: HP:0000927 ! Abnormality of skeletal maturation

[Term]
id: HP:0005617
name: Bilateral camptodactyly
xref: UMLS:C4021830
is_a: HP:0100490 ! Camptodactyly of finger

[Term]
id: HP:0005619
name: Thoracolumbar kyphosis
alt_id: HP:0003439
def: "Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance." [https://orcid.org/0000-0002-0736-9199]
synonym: "Thoracolumbar gibbus" EXACT []
synonym: "Thoracolumbar gibbus deformity" EXACT []
xref: UMLS:C1855418
is_a: HP:0002942 ! Thoracic kyphosis
is_a: HP:0100712 ! Abnormal lumbar spine morphology

[Term]
id: HP:0005620
name: Hypermobility of interphalangeal joints
def: "The ability of the interphalangeal joints to move beyond their normal range of motion." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased mobility of hinge joints" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025172
is_a: HP:0430046 ! Small joint hypermobilty

[Term]
id: HP:0005621
name: Trapezoidal vertebral body
def: "An anomalous trapezoidal appearance of a vertebral body. A trapezoid is a four-sided shape that has two sides that are parallel and two sides that are not parallel. In this case, the two lateral sides of the vertebra are parallel, and the top and the bottom are slanted with respect to each other such that the vertebra is shorter in the front or back than on the other side." [PMID:33247084]
comment: See Figure 1d in PMID:33247084.
synonym: "Trapezoidal shaped vertebral bodies" EXACT plural_form []
synonym: "Trapezoidal vertebral bodies" EXACT plural_form []
xref: UMLS:C4025171
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0005622
name: Broad long bones
def: "Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad long bones" EXACT layperson []
synonym: "Wide long bones" EXACT layperson []
synonym: "Widened long bones" EXACT layperson []
xref: UMLS:C4021630
is_a: HP:0011314 ! Abnormal long bone morphology

[Term]
id: HP:0005623
name: Absent ossification of calvaria
def: "Acalvaria is an extremely rare congenital malformation characterized by an absence of flat bones of skull, dura mater, and associated muscles in the presence of normal cranial contents and facial bones." [https://orcid.org/0000-0002-0736-9199]
comment: Absent ossification of the calvaria (vault of the skull).
synonym: "Absent bone maturation of skullcap" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Absent ossification of skull vault" EXACT []
synonym: "Acalvaria" EXACT []
xref: UMLS:C4021629
is_a: HP:0005474 ! Decreased calvarial ossification

[Term]
id: HP:0005625
name: Osteoporosis of vertebrae
def: "Osteoporosis affecting predominantly the vertebrae." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025170
is_a: HP:0003468 ! Abnormal vertebral morphology
is_a: HP:0040161 ! Localized osteoporosis

[Term]
id: HP:0005626
name: Posterior fusion of lumbosacral vertebrae
def: "Bony fusion of the posterior part of the L5 vertebral body with the sacrum." [PMID:5443339]
xref: UMLS:C4025169
is_a: HP:0002948 ! Vertebral fusion

[Term]
id: HP:0005627
name: Type D brachydactyly
def: "This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Brachydactyly type D" EXACT []
xref: UMLS:C0220664
is_a: HP:0001156 ! Brachydactyly

[Term]
id: HP:0005632
name: Absent forearm
synonym: "Absent forearm" EXACT layperson []
synonym: "Absent forearms" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1408532
is_a: HP:0002973 ! Abnormal forearm morphology

[Term]
id: HP:0005638
name: Decreased anterioposterior diameter of lumbar vertebral bodies
xref: UMLS:C4025168
is_a: HP:0008473 ! Narrow anterio-posterior vertebral body diameter

[Term]
id: HP:0005639
name: Hyperextensible hand joints
def: "The ability of the joints of the hand to move beyond their normal range of motion." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1856877
is_a: HP:0430046 ! Small joint hypermobilty

[Term]
id: HP:0005640
name: Abnormal vertebral segmentation and fusion
xref: UMLS:C4025167
is_a: HP:0002948 ! Vertebral fusion

[Term]
id: HP:0005643
name: Short 3rd toe
def: "Underdevelopment (hypoplasia) of the third toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Brachydactyly of third toes" EXACT []
synonym: "Short 3rd toe" EXACT layperson []
synonym: "Short third toe" EXACT layperson []
xref: UMLS:C4021628
is_a: HP:0001831 ! Short toe

[Term]
id: HP:0005645
name: Intervertebral disk calcification
def: "The presence of abnormal calcium deposition of the intervertebral disk." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Intervertebral disc calcification" EXACT uk_spelling []
synonym: "Multiple intervertebral disc calcifications" EXACT uk_spelling []
synonym: "Multiple intervertebral disk calcifications" EXACT []
xref: SNOMEDCT_US:240211000
xref: UMLS:C0410607
is_a: HP:0005108 ! Abnormal intervertebral disk morphology
is_a: HP:0010766 ! Ectopic calcification

[Term]
id: HP:0005648
name: Bilateral ulnar hypoplasia
def: "Underdevelopment of the ulna on both sides." [https://orcid.org/0000-0002-0736-9199]
comment: May be a symmetric finding.
xref: UMLS:C4025166
is_a: HP:0003022 ! Hypoplasia of the ulna

[Term]
id: HP:0005650
name: 2-5 finger cutaneous syndactyly
alt_id: HP:0010692
def: "A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cutaneous syndactyly between fingers 2 and 5" EXACT []
synonym: "Webbed 2nd-5th fingers" EXACT []
xref: UMLS:C4025165
is_a: HP:0010554 ! Cutaneous finger syndactyly

[Term]
id: HP:0005652
name: Cortical sclerosis
def: "Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025164
is_a: HP:0003103 ! Abnormal cortical bone morphology
is_a: HP:0011001 ! Increased bone mineral density

[Term]
id: HP:0005653
name: Moderate generalized osteoporosis
def: "Moderate osteoporosis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Moderate generalised osteoporosis" EXACT uk_spelling []
xref: UMLS:C4025163
is_a: HP:0040160 ! Generalized osteoporosis

[Term]
id: HP:0005655
name: Multiple digital exostoses
def: "Multiple exostoses originating in the fingers and toes." [https://orcid.org/0000-0002-0736-9199]
comment: This feature is characteristic of metachondromatosis (MIM:156250).
xref: UMLS:C4025162
is_a: HP:0002762 ! Multiple exostoses

[Term]
id: HP:0005656
name: Positional foot deformity
def: "A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025161
is_a: HP:0001760 ! Abnormal foot morphology

[Term]
id: HP:0005659
name: Thoracic kyphoscoliosis
xref: UMLS:C4015465
is_a: HP:0002943 ! Thoracic scoliosis

[Term]
id: HP:0005661
name: Salmonella osteomyelitis
def: "Osteomyelitis caused by infection with the bacteria, salmonella." [PMID:26668420]
synonym: "Salmonella bone infection" EXACT layperson []
xref: SNOMEDCT_US:6803002
xref: UMLS:C0152491
is_a: HP:0002754 ! Osteomyelitis

[Term]
id: HP:0005665
name: Massively thickened long bone cortices
def: "Extreme thickening of the cortex of long bones." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025160
is_a: HP:0000935 ! Thickened cortex of long bones

[Term]
id: HP:0005667
name: Os odontoideum
def: "Separation of the odontoid process from the body of the axis." [https://orcid.org/0000-0002-0736-9199, PMID:21543665, PMID:22224150]
comment: With os odontoideum, the caudal fragment of the odontoid process may provide deficient stability for the atlantoaxial joint and lead to subsequent instability or dislocation and neurological deficits.
xref: SNOMEDCT_US:445242006
xref: UMLS:C2919848
is_a: HP:0003310 ! Abnormal odontoid process morphology

[Term]
id: HP:0005671
name: Bilateral intracerebral calcifications
def: "Deposition of calcium salts on both sides of the cerebrum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bilateral intracranial calcifications" EXACT []
xref: UMLS:C4025159
is_a: HP:0002514 ! Cerebral calcification

[Term]
id: HP:0005676
name: Rudimentary postaxial polydactyly of hands
xref: UMLS:C4025158
is_a: HP:0001162 ! Postaxial hand polydactyly

[Term]
id: HP:0005678
name: Anterior atlanto-occipital dislocation
xref: UMLS:C4025157
is_a: HP:0003414 ! Atlantoaxial dislocation

[Term]
id: HP:0005679
name: Dupuytren contracture
def: "An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints." [https://orcid.org/0000-0002-0736-9199]
comment: A Dupuytren contracture usually affects the fourth and fifth digits (the ring and small fingers). Affected persons are not able to extend the 4th and 5th fingers.
xref: SNOMEDCT_US:203045001
xref: SNOMEDCT_US:203047009
xref: SNOMEDCT_US:274142002
xref: SNOMEDCT_US:410813000
xref: UMLS:C0013312
is_a: HP:0009473 ! Joint contracture of the hand

[Term]
id: HP:0005680
name: Tongue-like lumbar vertebral deformities
def: "A tongue-like protusion from the anterior aspect of lumbar vertebral bodies." [PMID:25349664]
xref: UMLS:C4025156
is_a: HP:0008430 ! Anterior beaking of lumbar vertebrae

[Term]
id: HP:0005681
name: Juvenile rheumatoid arthritis
synonym: "Juvenile idiopathic arthritis" EXACT [https://en.wikipedia.org/wiki/subtalar_joint, https://orcid.org/0000-0001-5208-3432]
synonym: "Juvenile RA" EXACT abbreviation []
synonym: "Rheumatoid arthritis, juvenile" EXACT []
xref: SNOMEDCT_US:410795001
xref: UMLS:C3714757
is_a: HP:0001370 ! Rheumatoid arthritis

[Term]
id: HP:0005682
name: Talocalcaneal synostosis
synonym: "Fusion of foot joint" BROAD layperson [https://en.wikipedia.org/wiki/subtalar_joint, https://orcid.org/0000-0001-5208-3432]
synonym: "Fusion of the subtalar joint" EXACT [https://en.wikipedia.org/wiki/subtalar_joint, https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025155
xref: UMLS:C4255214
is_a: HP:0008368 ! Tarsal synostosis

[Term]
id: HP:0005684
name: Distal arthrogryposis
def: "An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function." [https://orcid.org/0000-0002-0736-9199, PMID:8923935]
xref: SNOMEDCT_US:24269006
xref: UMLS:C0265213
is_a: HP:0002803 ! Congenital contracture

[Term]
id: HP:0005686
name: Patchy osteosclerosis
def: "Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays." [https://orcid.org/0000-0002-0736-9199]
synonym: "Patchy increase of bone mineral density" EXACT [https://orcid.org/0000-0002-0736-9199]
synonym: "Uneven increase in bone density" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1855845
is_a: HP:0010658 ! Patchy changes of bone mineral density
is_a: HP:0011001 ! Increased bone mineral density

[Term]
id: HP:0005687
name: Deformed humeral heads
synonym: "Deformed head of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025154
is_a: HP:0003871 ! Deformed humerus

[Term]
id: HP:0005688
name: Dysplastic distal thumb phalanges with a central hole
xref: UMLS:C4025153
is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb

[Term]
id: HP:0005689
name: Dermatoglyphic ridges abnormal
xref: UMLS:C4025152
is_a: HP:0001018 ! Abnormal palmar dermatoglyphics

[Term]
id: HP:0005692
name: obsolete Joint hyperflexibility
is_obsolete: true
replaced_by: HP:0001382

[Term]
id: HP:0005694
name: Partial fusion of proximal row of carpal bones
synonym: "Partial fusion of innermost row of wrist bones" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C3152021
is_a: HP:0009702 ! Carpal synostosis

[Term]
id: HP:0005696
name: Postaxial polydactyly type A
def: "Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:715704001
xref: UMLS:C3887487
is_a: HP:0001162 ! Postaxial hand polydactyly

[Term]
id: HP:0005700
name: Increased bone density with cystic changes
xref: UMLS:C4025151
is_a: HP:0011001 ! Increased bone mineral density

[Term]
id: HP:0005701
name: Multiple enchondromatosis
xref: SNOMEDCT_US:268274005
xref: UMLS:C0014084
is_a: HP:0002763 ! Abnormal cartilage morphology
is_a: HP:0030038 ! Enchondroma

[Term]
id: HP:0005707
name: Bilateral triphalangeal thumbs
def: "A bilateral form of triphalangeal thumb." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bilateral digitalized thumb" EXACT []
xref: UMLS:C4021627
is_a: HP:0001199 ! Triphalangeal thumb

[Term]
id: HP:0005709
name: 2-3 toe cutaneous syndactyly
synonym: "Complete cutaneous syndactyly of second and third toes" EXACT []
synonym: "Cutaneous 2,3 toe syndactyly" EXACT []
synonym: "Cutaneous syndactyly of second and third toes" EXACT []
synonym: "Webbed skin of 2nd-3rd toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:205145001
xref: UMLS:C0432040
is_a: HP:0010621 ! Cutaneous syndactyly of toes

[Term]
id: HP:0005715
name: Flattened knee epiphyses
synonym: "Flattened end part of knee bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025150
is_a: HP:0003071 ! Flattened epiphysis
is_a: HP:0034669 ! Abnormal knee morphology

[Term]
id: HP:0005716
name: Lethal skeletal dysplasia
alt_id: HP:0008898
synonym: "Lethal dwarfism identifiable at birth" EXACT layperson []
xref: UMLS:C4021626
is_a: HP:0002652 ! Skeletal dysplasia

[Term]
id: HP:0005720
name: Shortening of all metacarpals
def: "Abnormal reduction in length of all metacarpal bones." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025149
is_a: HP:0010049 ! Short metacarpal

[Term]
id: HP:0005722
name: Hyperextensible thumb
def: "The ability of the thumb joints to move beyond their normal range of motion." [https://orcid.org/0000-0002-0736-9199]
synonym: "Double jointed thumb" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4025148
is_a: HP:0005639 ! Hyperextensible hand joints

[Term]
id: HP:0005723
name: Shoe-shaped sella turcica
xref: UMLS:C4025147
is_a: HP:0002681 ! Deformed sella turcica

[Term]
id: HP:0005725
name: Nonopposable triphalangeal thumb
def: "A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C2931238
is_a: HP:0001199 ! Triphalangeal thumb

[Term]
id: HP:0005726
name: Thumbs hypoplastic with bulbous tips
synonym: "Short thumbs with bulbous tips" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025146
is_a: HP:0009778 ! Short thumb

[Term]
id: HP:0005731
name: Cortical irregularity
def: "An abnormal irregularity of cortical bone." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025145
is_a: HP:0003103 ! Abnormal cortical bone morphology

[Term]
id: HP:0005733
name: Spinal stenosis with reduced interpedicular distance
alt_id: HP:0004597
def: "An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging)." [https://orcid.org/0000-0002-0736-9199]
comment: The pedicles are two short, thick processes that connect the body of the vertebrae to the arch.
synonym: "Spinal stenosis due to short pedicles" EXACT []
xref: UMLS:C4021625
is_a: HP:0003416 ! Spinal canal stenosis

[Term]
id: HP:0005736
name: Short tibia
alt_id: HP:0002993
alt_id: HP:0006436
alt_id: HP:0006445
def: "Underdevelopment (reduced size) of the tibia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplasia of the tibia" EXACT []
synonym: "Hypoplastic tibia" EXACT []
synonym: "Short shinbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Short skankbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Short tibiae" EXACT []
synonym: "Shortening of the shankbone" EXACT []
synonym: "Shortening of the shinbone" EXACT []
synonym: "Shortening of the tibia" EXACT []
xref: UMLS:C1850259
xref: UMLS:C1855277
is_a: HP:0003026 ! Short long bone
is_a: HP:0005772 ! Aplasia/Hypoplasia of the tibia

[Term]
id: HP:0005739
name: Posterior subluxation of radial head
def: "Partial dislocation of the head of the radius in the posterior direction." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C3149878
is_a: HP:0003048 ! Radial head subluxation

[Term]
id: HP:0005743
name: Avascular necrosis of the capital femoral epiphysis
alt_id: HP:0003280
alt_id: HP:0006448
alt_id: HP:0010887
def: "Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature." [https://orcid.org/0000-0002-0736-9199, PMID:29481348, PMID:30020602]
comment: In medical parlance, this is often referred to as Legg Calve Perthes disease. Here, the name 'Avascular necrosis of the capital femoral epiphysis' is preferred to emphasize that the term refers to a phenotypic feature rather than a disease entity. Avascular necrosis of the femoral head may result in pain in the hip, limp, stiffness and reduced range of motion, and some degree of atrophy of the affected leg. The phrase Legg Perthes syndrome or Legg Calve Perthes disease is also used to refer to a number of diseases, including the idiopathic form and a form that is related to mutation in the COL2A1 gene (MIM 150600). Legg-Calve-Perthes disease usually occurs in boys 4 to 10 years old, and is clinically characterized by limping, hip stiffness, limited range of motion, and can result in restriction of growth of the affected leg and wasting of the muscles of the upper thigh.
synonym: "Coxa plana" RELATED []
synonym: "Legg-Calve-Perthes syndrome" RELATED []
synonym: "Legg-Perthes disease" RELATED []
synonym: "Morbus Legg-Calve-Perthes" RELATED []
synonym: "Osteochondrosis of the femoral head" EXACT []
synonym: "Osteonecrosis of the femoral head" EXACT []
synonym: "Perthes-like femoral head changes" EXACT []
xref: ICD-10:M91.1
xref: SNOMEDCT_US:111255008
xref: SNOMEDCT_US:240241003
xref: UMLS:C0023234
is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head
is_a: HP:0100323 ! Juvenile aseptic necrosis

[Term]
id: HP:0005744
name: obsolete Generalized osteoporosis with pathologic fractures
is_obsolete: true
replaced_by: HP:0040160

[Term]
id: HP:0005745
name: Congenital foot contractures
xref: UMLS:C4025144
is_a: HP:0002803 ! Congenital contracture
is_a: HP:0005750 ! Lower-limb joint contracture

[Term]
id: HP:0005746
name: Osteosclerosis of the base of the skull
def: "An increase in bone density affecting the basicranium (base of the skull)." [https://orcid.org/0000-0002-0736-9199]
comment: Bundled term. Consider obsoleting it and splitting of osteosclerosis of base of skull.
synonym: "Osteosclerosis of the skull base" EXACT []
xref: UMLS:C4021624
is_a: HP:0005464 ! Craniofacial osteosclerosis

[Term]
id: HP:0005747
name: Easily subluxated first metacarpophalangeal joints
xref: UMLS:C4025143
is_a: HP:0004294 ! Subluxation of metacarpal phalangeal joints

[Term]
id: HP:0005750
name: Lower-limb joint contracture
def: "A limitation in the passive range of motion of a joint of the lower limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin." []
synonym: "Contractures of the joints of the lower limbs" EXACT []
synonym: "Contractures, lower limbs" EXACT []
xref: UMLS:C1859523
is_a: HP:0003121 ! Limb joint contracture

[Term]
id: HP:0005752
name: Flattened moderately deformed vertebrae
xref: UMLS:C4025142
is_a: HP:0000926 ! Platyspondyly

[Term]
id: HP:0005756
name: Neonatal epiphyseal stippling
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period." [https://orcid.org/0000-0002-0736-9199]
synonym: "Epiphyseal stippling in neonates" EXACT []
synonym: "Speckled calcifications in bone end parts in neonates" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021623
is_a: HP:0010655 ! Epiphyseal stippling

[Term]
id: HP:0005758
name: Basilar impression
def: "Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum." [https://orcid.org/0000-0002-0736-9199, PMID:10084535]
xref: SNOMEDCT_US:86587003
xref: UMLS:C0032209
is_a: HP:0000932 ! Abnormal posterior cranial fossa morphology

[Term]
id: HP:0005759
name: Small flat posterior fossa
def: "An abnormally small and flat configuration of the posterior cranial fossa." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small and flat posterior fossa of skull" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Small and flat posterior skull bones" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025141
is_a: HP:0040010 ! Small posterior fossa
is_a: HP:0040011 ! Flat posterior fossa

[Term]
id: HP:0005764
name: Polyarticular arthritis
xref: SNOMEDCT_US:416956002
xref: SNOMEDCT_US:417373000
xref: UMLS:C0162323
is_a: HP:0005195 ! Polyarticular arthropathy

[Term]
id: HP:0005765
name: Sacral meningocele
xref: SNOMEDCT_US:95478002
xref: UMLS:C0521556
is_a: HP:0005107 ! Abnormal sacrum morphology

[Term]
id: HP:0005766
name: Disproportionate shortening of the tibia
synonym: "Disproportionate shortening of the shankbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Disproportionate shortening of the shinbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Marked shortening of tibia" EXACT []
xref: UMLS:C3806516
is_a: HP:0005736 ! Short tibia

[Term]
id: HP:0005767
name: 1-2 toe complete cutaneous syndactyly
xref: UMLS:C4025140
is_a: HP:0010621 ! Cutaneous syndactyly of toes

[Term]
id: HP:0005768
name: 2-4 toe cutaneous syndactyly
def: "A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4." [https://orcid.org/0000-0002-0736-9199]
synonym: "Soft tissue syndactyly of toes 2, 3, and 4" EXACT []
synonym: "Webbed 2nd, 3rd and 4th toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Webbed second, third and fourth toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021622
is_a: HP:0010621 ! Cutaneous syndactyly of toes

[Term]
id: HP:0005769
name: Fifth finger distal phalanx clinodactyly
def: "Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curvature of outermost bone of little finger" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Curvature of outermost bone of pinkie finger" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Curvature of outermost bone of pinky finger" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025139
xref: UMLS:C4280477
is_a: HP:0004209 ! Clinodactyly of the 5th finger
is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger

[Term]
id: HP:0005772
name: Aplasia/Hypoplasia of the tibia
def: "Absence or underdevelopment of the tibia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/hypoplastic tibia" EXACT []
synonym: "Absent/small shankbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/small shinbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped shankbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped shinbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Aplastic/hypoplastic tibia" EXACT []
xref: UMLS:C1969181
is_a: HP:0002992 ! Abnormal tibia morphology
is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs

[Term]
id: HP:0005773
name: Short forearm
def: "Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplasia of both radius and ulna" EXACT []
synonym: "Short forearm" EXACT layperson []
xref: UMLS:C1855299
is_a: HP:0009821 ! Forearm undergrowth

[Term]
id: HP:0005775
name: Multiple skeletal anomalies
xref: UMLS:C4025138
is_a: HP:0002652 ! Skeletal dysplasia

[Term]
id: HP:0005776
name: Carpal bone malsegmentation
xref: UMLS:C4025137
is_a: HP:0001191 ! Abnormal carpal morphology

[Term]
id: HP:0005780
name: Absent fourth finger distal interphalangeal crease
def: "Absence of the distal interphalangeal flexion creases of the fourth finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "No fourth finger distal interphalangeal crease" EXACT []
xref: UMLS:C4021621
is_a: HP:0001032 ! Absent distal interphalangeal creases

[Term]
id: HP:0005781
name: Contractures of the large joints
xref: UMLS:C1859698
is_a: HP:0001371 ! Flexion contracture

[Term]
id: HP:0005787
name: Lumbar platyspondyly
alt_id: HP:0004588
def: "A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the lumbar spine." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025136
is_a: HP:0000926 ! Platyspondyly

[Term]
id: HP:0005788
name: obsolete Abnormal cervical myelogram
is_obsolete: true
replaced_by: HP:0002318

[Term]
id: HP:0005789
name: Generalized osteosclerosis
alt_id: HP:0005805
def: "An abnormal increase of bone mineral density with generalized involvement of the skeleton." [https://orcid.org/0000-0002-0736-9199]
synonym: "Diffuse, symmetrical osteosclerosis" EXACT []
synonym: "Generalised osteosclerosis" EXACT uk_spelling []
synonym: "Increased bone density in skeletal bones" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Osteosclerosis, diffuse symmetrical" EXACT []
xref: UMLS:C1843331
xref: UMLS:C4280476
is_a: HP:0011001 ! Increased bone mineral density

[Term]
id: HP:0005790
name: Short mandibular condyles
synonym: "Bilateral hypoplasia of condylar process of mandible" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Bilateral hypoplasia of mandibular condylar head" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Bilateral hypoplasia of mandibular condylar neck" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased height of condylar process of mandible" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased length of condylar process of mandible" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Short condylar head of mandible" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Short condylar neck of mandible" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Short condylar process of mandible" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025134
xref: UMLS:C4280474
xref: UMLS:C4280475
is_a: HP:0003778 ! Short mandibular rami
is_a: HP:3000077 ! Abnormal mandible condylar process morphology

[Term]
id: HP:0005791
name: Cortical thickening of long bone diaphyses
def: "Abnormal thickening of the cortex of the diaphyseal region of long bones." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025133
is_a: HP:0000935 ! Thickened cortex of long bones
is_a: HP:0000940 ! Abnormal diaphysis morphology

[Term]
id: HP:0005792
name: Short humerus
alt_id: HP:0002989
alt_id: HP:0003014
alt_id: HP:0003064
alt_id: HP:0006419
alt_id: HP:0006464
alt_id: HP:0006468
def: "Underdevelopment of the humerus." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Humeral hypoplasia" EXACT []
synonym: "Humeral shortening" EXACT []
synonym: "Hypoplastic humerus" EXACT []
synonym: "Short humeri" EXACT []
synonym: "Short humerus" EXACT layperson []
synonym: "Short long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Short upper arms" EXACT layperson []
xref: UMLS:C1832117
is_a: HP:0003026 ! Short long bone
is_a: HP:0006507 ! Aplasia/hypoplasia of the humerus

[Term]
id: HP:0005793
name: Shortening of all distal phalanges of the toes
def: "Abnormally short distal phalanx of toe of all toes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Shortening of all outermost bone of the toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025132
is_a: HP:0001857 ! Short distal phalanx of toe

[Term]
id: HP:0005794
name: obsolete Arterial disease of legs
is_obsolete: true
replaced_by: HP:0004950

[Term]
id: HP:0005798
name: Posterior radial head dislocation
def: "A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1867398
is_a: HP:0003083 ! Dislocated radial head

[Term]
id: HP:0005802
name: Coalescence of tarsal bones
xref: UMLS:C4025130
is_a: HP:0008368 ! Tarsal synostosis

[Term]
id: HP:0005807
name: Absent distal phalanges
def: "Aplasia (absence) of the distal phalanges." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent outermost digital bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1861339
is_a: HP:0009835 ! Aplasia/Hypoplasia of the distal phalanges of the hand

[Term]
id: HP:0005815
name: Supernumerary ribs
alt_id: HP:0000901
def: "The presence of more than 12 rib pairs." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Extra ribs" EXACT layperson []
xref: SNOMEDCT_US:205460009
xref: UMLS:C0345397
is_a: HP:0000772 ! Abnormal rib morphology
is_a: HP:0009144 ! Supernumerary bones of the axial skeleton

[Term]
id: HP:0005817
name: Postaxial polysyndactyly of foot
def: "Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe)." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4021824
is_a: HP:0001830 ! Postaxial foot polydactyly

[Term]
id: HP:0005819
name: Short middle phalanx of finger
alt_id: HP:0001208
alt_id: HP:0006068
alt_id: HP:0006081
alt_id: HP:0010240
def: "Short (hypoplastic) middle phalanx of finger, affecting one or more fingers." [https://orcid.org/0000-0002-0736-9199]
synonym: "Brachymesophalangy" EXACT []
synonym: "Disproportionately short middle phalanges" EXACT []
synonym: "Hypoplasia of the middle phalanges of the hand" EXACT []
synonym: "Hypoplastic middle phalanges" EXACT []
synonym: "Hypoplastic middle phalanx" EXACT []
synonym: "Midphalangeal hypoplasia" EXACT []
synonym: "Short middle bone of finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Short middle phalanges" EXACT []
synonym: "Shortened middle finger bones" EXACT []
xref: UMLS:C1846950
is_a: HP:0009381 ! Short finger
is_a: HP:0009803 ! Short phalanx of finger
is_a: HP:0009843 ! Aplasia/Hypoplasia of the middle phalanges of the hand

[Term]
id: HP:0005820
name: Superior rib anomalies
xref: UMLS:C4025129
is_a: HP:0000772 ! Abnormal rib morphology

[Term]
id: HP:0005824
name: Clinodactyly of the 2nd toe
def: "Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Clinodactyly of second toes" EXACT []
synonym: "Curvature of 2nd toe" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021620
xref: UMLS:C4280473
is_a: HP:0001863 ! Toe clinodactyly
is_a: HP:0010326 ! Deviation of the 2nd toe

[Term]
id: HP:0005825
name: Mixed sclerosis of humeral metaphyses
xref: UMLS:C4025128
is_a: HP:0003918 ! Sclerotic humeral metaphysis

[Term]
id: HP:0005828
name: Transient pulmonary infiltrates
xref: UMLS:C3805920
is_a: HP:0002113 ! Pulmonary infiltrates

[Term]
id: HP:0005829
name: Maldevelopment of radioulnar joint
xref: UMLS:C3149879
is_a: HP:0003059 ! Abnormality of the radioulnar joints

[Term]
id: HP:0005830
name: Flexion contracture of toe
alt_id: HP:0001860
alt_id: HP:0008128
alt_id: HP:0008367
alt_id: HP:0200027
def: "One or more bent (flexed) toe joints that cannot be straightened actively or passively." [https://orcid.org/0000-0002-0736-9199]
synonym: "Contractures involving the toes" EXACT []
synonym: "Contractures of the toes" EXACT []
synonym: "Toe contractures" EXACT []
xref: UMLS:C1406835
is_a: HP:0008366 ! Foot joint contracture
is_a: HP:0030044 ! Flexion contracture of digit
is_a: HP:0034675 ! Toe joint contracture

[Term]
id: HP:0005831
name: Type B brachydactyly
xref: UMLS:C1862112
is_a: HP:0001156 ! Brachydactyly

[Term]
id: HP:0005832
name: Dysharmonic delayed bone age
alt_id: HP:0005840
def: "A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1859444
is_a: HP:0002750 ! Delayed skeletal maturation
is_a: HP:0200000 ! Dysharmonic skeletal maturation

[Term]
id: HP:0005833
name: obsolete Joint swelling onset late infancy
is_obsolete: true
consider: HP:0001386

[Term]
id: HP:0005834
name: obsolete Thumbs hypo/aplastic
is_obsolete: true
replaced_by: HP:0009658

[Term]
id: HP:0005837
name: obsolete Joint dislocations in young adult
is_obsolete: true
replaced_by: HP:0001373

[Term]
id: HP:0005841
name: Calcific stippling of infantile cartilaginous skeleton
xref: UMLS:C1859135
is_a: HP:0003336 ! Abnormal enchondral ossification

[Term]
id: HP:0005844
name: Rounded middle phalanx of finger
def: "An abnormally round shape of the middle phalanx of the finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Rounded middle bone of finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025126
is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand

[Term]
id: HP:0005848
name: obsolete Bifid thumb distal phalanx
is_obsolete: true
replaced_by: HP:0009611

[Term]
id: HP:0005849
name: Diffuse cerebral calcification
def: "Generalized deposition of calcium salts within the cerebrum." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025125
is_a: HP:0002514 ! Cerebral calcification

[Term]
id: HP:0005850
name: Congenital talipes calcaneovalgus
xref: SNOMEDCT_US:205083002
xref: SNOMEDCT_US:31668003
xref: UMLS:C0152237
is_a: HP:0001884 ! Talipes calcaneovalgus

[Term]
id: HP:0005852
name: Limited elbow extension and supination
xref: UMLS:C4025124
is_a: HP:0001377 ! Limited elbow extension

[Term]
id: HP:0005853
name: Congenital foot contraction deformities
xref: UMLS:C4025123
is_a: HP:0002803 ! Congenital contracture

[Term]
id: HP:0005855
name: Multiple prenatal fractures
alt_id: HP:0002811
alt_id: HP:0005761
def: "The presence of bone fractures in the prenatal period that are diagnosed at birth or before." [https://orcid.org/0000-0002-0736-9199]
synonym: "Congenital bone fractures" EXACT []
synonym: "Multiple fractures present at birth" EXACT layperson []
synonym: "Multiple fractures, present at birth" EXACT layperson []
synonym: "Numerous multiple fractures present at birth" EXACT layperson []
synonym: "Numerous multiple fractures that are present at birth" EXACT layperson []
xref: UMLS:C1853171
is_a: HP:0002659 ! Increased susceptibility to fractures

[Term]
id: HP:0005856
name: Ulnar radial head dislocation
def: "A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Ulnar dislocation of radial heads" EXACT []
xref: UMLS:C4021619
is_a: HP:0003083 ! Dislocated radial head

[Term]
id: HP:0005857
name: Cervical spina bifida
xref: SNOMEDCT_US:32232003
xref: UMLS:C0266501
is_a: HP:0002414 ! Spina bifida

[Term]
id: HP:0005863
name: Type E brachydactyly
alt_id: HP:0006115
def: "In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1862102
is_a: HP:0001156 ! Brachydactyly

[Term]
id: HP:0005864
name: Pseudoarthrosis
def: "A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or \"false joint\")." [https://orcid.org/0000-0002-0736-9199]
synonym: "Pseudoarthroses" EXACT []
xref: SNOMEDCT_US:31511007
xref: SNOMEDCT_US:410818009
xref: UMLS:C0033785
is_a: HP:0011314 ! Abnormal long bone morphology

[Term]
id: HP:0005866
name: Opposable triphalangeal thumb
def: "A form of triphalangeal thumb that can be placed opposite the fingers of the same hand." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025122
is_a: HP:0001199 ! Triphalangeal thumb

[Term]
id: HP:0005867
name: 4-5 metacarpal synostosis
synonym: "Fused 4th-5th long bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Fused 4th-5th metacarpals" EXACT []
synonym: "Fused fourth and fifth metacarpals" EXACT []
synonym: "Ring finger and little finger metacarpal synostosis" EXACT []
synonym: "Synostosis of the fourth and fifth metacarpal bones" EXACT []
xref: UMLS:C1859768
is_a: HP:0009707 ! Synostosis involving the 4th metacarpal
is_a: HP:0009708 ! Synostosis involving the 5th metacarpal

[Term]
id: HP:0005868
name: Metaphyseal enchondromatosis
def: "An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins." [https://orcid.org/0000-0002-0736-9199, PMID:20661403]
xref: UMLS:C4025121
is_a: HP:0000944 ! Abnormal metaphysis morphology

[Term]
id: HP:0005871
name: Metaphyseal chondrodysplasia
alt_id: HP:0006377
def: "An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae." [https://orcid.org/0000-0002-0736-9199, PMID:335375]
comment: The term metaphyseal chondrodysplasia is usually used to describe a disease but is often also used to describe the corresponding phenotypic appearance. This use is retained in the HPO for convenience, but if possible a precise phenotypic description is preferred.
xref: SNOMEDCT_US:28681006
xref: UMLS:C0265290
is_a: HP:0100255 ! Metaphyseal dysplasia

[Term]
id: HP:0005872
name: Brachytelomesophalangy
alt_id: HP:0005777
alt_id: HP:0006093
def: "Disproportionately short middle and distal phalanges compared to the hand/foot." [https://orcid.org/0000-0002-0736-9199]
synonym: "Progressive brachydactyly of middle and distal phalanges" EXACT []
synonym: "Short middle and distal phalanges of digits ii through v" EXACT []
xref: UMLS:C1847408
is_a: HP:0001156 ! Brachydactyly

[Term]
id: HP:0005873
name: Polysyndactyly of hallux
def: "Combined syndactyly and polydactyly of the great toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Polysyndactyly of big toe" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Polysyndactyly of great toe" EXACT []
xref: UMLS:C4021618
is_a: HP:0001841 ! Preaxial foot polydactyly

[Term]
id: HP:0005875
name: Increased dermatoglyphic whorls
xref: UMLS:C4025120
is_a: HP:0001018 ! Abnormal palmar dermatoglyphics

[Term]
id: HP:0005876
name: Progressive flexion contractures
def: "Progressively worsening joint contractures." [https://orcid.org/0000-0002-0736-9199]
synonym: "Joint contractures, progressive" EXACT []
xref: UMLS:C3279322
is_a: HP:0001371 ! Flexion contracture

[Term]
id: HP:0005877
name: Multiple small vertebral fractures
xref: UMLS:C4025119
is_a: HP:0003468 ! Abnormal vertebral morphology

[Term]
id: HP:0005878
name: Enlarged sagittal diameter of the cervical canal
xref: UMLS:C4025118
is_a: HP:0003319 ! Abnormality of the cervical spine

[Term]
id: HP:0005879
name: Congenital finger flexion contractures
def: "Multiple bent (flexed) finger joints that cannot be straightened actively or passively." [https://orcid.org/0000-0002-0736-9199]
synonym: "Congenital finger contractures" EXACT []
xref: UMLS:C1393871
is_a: HP:0002803 ! Congenital contracture
is_a: HP:0100490 ! Camptodactyly of finger

[Term]
id: HP:0005880
name: Metacarpophalangeal synostosis
alt_id: HP:0100325
def: "Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fused long bone of hand with innermost finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025117
is_a: HP:0009700 ! Finger symphalangism
is_a: HP:0009701 ! Metacarpal synostosis
is_a: HP:0011911 ! Abnormal metacarpophalangeal joint morphology

[Term]
id: HP:0005881
name: Spinal instability
xref: SNOMEDCT_US:240220009
xref: UMLS:C0410648
is_a: HP:0000925 ! Abnormality of the vertebral column

[Term]
id: HP:0005882
name: Dermatoglyphic variants
xref: UMLS:C4025116
is_a: HP:0001018 ! Abnormal palmar dermatoglyphics

[Term]
id: HP:0005885
name: Absent ossification of cervical vertebral bodies
def: "A lack of bone mineralization of one or more body of cervical vertebra." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025115
is_a: HP:0004599 ! Absent or minimally ossified vertebral bodies

[Term]
id: HP:0005886
name: Aphalangy of the hands
def: "Absence of a digit or of one or more phalanges of a finger." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025114
is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand

[Term]
id: HP:0005890
name: Hyperostosis cranialis interna
def: "Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlargement of the inner surface of the skull bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Excessive growth of inner surface of the skull bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Hyperostosis of the internal surface of the cranial bone" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hyperostosis of the internal surface of the cranial bones" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypertrophy of the internal surface of the cranial bones" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased ossification of the internal surface of the cranial bones" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Overgrowth of the inner surface of the skull bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Overgrowth of the inside of the skull" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thick inner surface of the skull bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thick internal surface of the cranial bones" BROAD [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1840404
xref: UMLS:C4280468
xref: UMLS:C4280469
xref: UMLS:C4280470
xref: UMLS:C4280471
xref: UMLS:C4280472
is_a: HP:0004437 ! Cranial hyperostosis

[Term]
id: HP:0005891
name: Progressive forearm bowing
def: "Progressive bending or abnormal curvature of the forearm skeleton." [https://orcid.org/0000-0002-0736-9199]
synonym: "Progressive forearm curvature" EXACT []
xref: UMLS:C3152020
is_a: HP:0003956 ! Bowed forearm bones
is_a: HP:0006383 ! Progressive bowing of long bones

[Term]
id: HP:0005892
name: Proximal tibial and fibular fusion
def: "A developmental defect characterized by the abnormal fusion of the proximal tibia and fibula." [PMID:1872166]
synonym: "Fusion of innermost shinbone and calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Proximal tibiofibular synostosis" EXACT []
xref: UMLS:C4025113
is_a: HP:0005928 ! Synostosis involving the fibula
is_a: HP:0005929 ! Synostosis involving the tibia

[Term]
id: HP:0005894
name: Double first metacarpals
def: "Duplication of the metacarpal I bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Double 1st long bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025112
is_a: HP:0005917 ! Supernumerary metacarpal bones

[Term]
id: HP:0005895
name: Radial deviation of thumb terminal phalanx
xref: UMLS:C4025111
is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb

[Term]
id: HP:0005897
name: Severe generalized osteoporosis
alt_id: HP:0005838
def: "Severe degree of osteoporosis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Severe generalised osteoporosis" EXACT uk_spelling []
synonym: "Severe, generalised osteoporosis" EXACT uk_spelling []
synonym: "Severe, generalized osteoporosis" EXACT []
xref: UMLS:C1859443
is_a: HP:0040160 ! Generalized osteoporosis

[Term]
id: HP:0005899
name: obsolete Metaphyseal dysostosis
is_obsolete: true
replaced_by: HP:0100255

[Term]
id: HP:0005900
name: Fifth metacarpal with ulnar notch
def: "Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fifth metacarpal notched on ulnar side" EXACT []
xref: UMLS:C3276324
is_a: HP:0010013 ! Abnormal 5th metacarpal morphology

[Term]
id: HP:0005901
name: obsolete Chronic recurrent multifocal osteomyelitis
is_obsolete: true
replaced_by: HP:0002754

[Term]
id: HP:0005905
name: Abnormal cervical curvature
def: "The presence of an abnormal curvature of the cervical vertebral column." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal neck curve" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C3151523
is_a: HP:0010674 ! Abnormal curvature of the vertebral column
is_a: HP:0046508 ! Abnormal cervical spine morphology

[Term]
id: HP:0005906
name: Delayed pneumatization of the mastoid process
def: "An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Mastoid processes poorly pneumatized" EXACT []
xref: UMLS:C4021617
is_a: HP:0000264 ! Abnormal mastoid morphology

[Term]
id: HP:0005910
name: Rhomboid or triangular shaped 5th finger middle phalanx
def: "Rhomboid or triangular shaped 5th (little) finger middle phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Rhomboid or triangular shaped fifth finger middle phalanx" EXACT []
xref: UMLS:C4021616
is_a: HP:0009182 ! Triangular shaped middle phalanx of the 5th finger

[Term]
id: HP:0005912
name: Biliary atresia
def: "Atresia of the biliary tree." [https://orcid.org/0000-0002-0736-9199]
synonym: "Atresia of bile ducts" EXACT []
synonym: "Biliary duct atresia" EXACT []
xref: SNOMEDCT_US:77480004
xref: SNOMEDCT_US:82821008
xref: UMLS:C0005411
is_a: HP:0012440 ! Abnormal biliary tract morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-27T02:07:00Z

[Term]
id: HP:0005913
name: Abnormal metacarpal epiphysis morphology
synonym: "Abnormality of end part of long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of metacarpal epiphyses" EXACT []
xref: UMLS:C4025110
is_a: HP:0005916 ! Abnormal metacarpal morphology
is_a: HP:0005924 ! Abnormal hand epiphysis morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-27T02:13:00Z

[Term]
id: HP:0005914
name: Aplasia/Hypoplasia involving the metacarpal bones
alt_id: HP:0006007
def: "Aplasia or Hypoplasia affecting the metacarpal bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent or hypoplastic metacarpals" EXACT []
synonym: "Absent/small long bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped long bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Aplastic/hypoplastic metacarpals" EXACT []
synonym: "Hypoplastic metacarpals" EXACT []
synonym: "Hypoplastic/absent metacarpal bones" EXACT []
synonym: "Hypoplastic/absent metacarpals" EXACT []
synonym: "Metacarpal aplasia/hypoplasia" EXACT []
xref: UMLS:C1836192
is_a: HP:0005916 ! Abnormal metacarpal morphology
is_a: HP:0005927 ! Aplasia/hypoplasia involving bones of the hand
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-27T02:14:00Z

[Term]
id: HP:0005916
name: Abnormal metacarpal morphology
alt_id: HP:0001163
alt_id: HP:0010556
def: "Any abnormal shape or structure of the metacarpal bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal shape of long bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormal shape of metacarpal bones" EXACT []
xref: UMLS:C4021615
is_a: HP:0005922 ! Abnormal hand morphology
is_a: HP:0040070 ! Abnormal upper limb bone morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-27T02:17:00Z

[Term]
id: HP:0005917
name: Supernumerary metacarpal bones
def: "The presence of more than the normal number of metacarpal bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Extra long bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:91846008
xref: UMLS:C0545617
is_a: HP:0005916 ! Abnormal metacarpal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-27T02:18:00Z

[Term]
id: HP:0005918
name: Abnormal finger phalanx morphology
alt_id: HP:0005786
alt_id: HP:0006259
def: "Abnormalities affecting the phalanx of finger." [https://orcid.org/0000-0002-0736-9199]
comment: This category is a supercategory for abnormalties affect phalanges of the hand.
synonym: "Abnormal form of phalanges of the hand" EXACT []
synonym: "Abnormality of phalanx of finger" EXACT []
synonym: "Abnormality of the finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the phalanges" EXACT []
synonym: "Abnormality of the phalanges of the hand" EXACT []
xref: UMLS:C4021614
is_a: HP:0001167 ! Abnormal finger morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-27T02:19:00Z

[Term]
id: HP:0005920
name: Abnormal epiphysis morphology of the phalanges of the hand
alt_id: HP:0009151
def: "Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits)." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4021613
is_a: HP:0005918 ! Abnormal finger phalanx morphology
is_a: HP:0005924 ! Abnormal hand epiphysis morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-27T02:21:00Z

[Term]
id: HP:0005921
name: obsolete Abnormal ossification of hand bones
is_obsolete: true
replaced_by: HP:0010660

[Term]
id: HP:0005922
name: Abnormal hand morphology
alt_id: HP:0003098
def: "Any structural anomaly of the hand." [https://orcid.org/0000-0002-0736-9199]
comment: This is a category to be used for general descriptions of hand dysmorphology. In time, it should be replaced by more accurate descriptions.
synonym: "Abnormal shape of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025109
is_a: HP:0001155 ! Abnormality of the hand
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-27T02:25:00Z

[Term]
id: HP:0005923
name: Abnormal hand metaphysis morphology
synonym: "Abnormalities of the metaphyses of the hand" EXACT []
synonym: "Abnormality of the wide portion of the hand bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025108
is_a: HP:0005922 ! Abnormal hand morphology
is_a: HP:0009809 ! Abnormal upper limb metaphysis morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-27T02:27:00Z

[Term]
id: HP:0005924
name: Abnormal hand epiphysis morphology
def: "Any abnormality of the epiphyses of the phalanges or metacarpal bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the end part of the hand bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the end part of the hand bones" EXACT []
synonym: "Abnormality of the epiphyses of the fingers" EXACT []
synonym: "Abnormality of the epiphyses of the hand" EXACT []
synonym: "Abnormality of the epiphyses of the phalanges of the hand" EXACT []
xref: UMLS:C4025107
is_a: HP:0003839 ! Abnormal upper limb epiphysis morphology
is_a: HP:0005922 ! Abnormal hand morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-27T02:28:00Z

[Term]
id: HP:0005925
name: Abnormal hand diaphysis morphology
synonym: "Abnormalities of shaft of long bone of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormalities of the diaphyses of the hand" EXACT []
xref: UMLS:C4025106
is_a: HP:0005922 ! Abnormal hand morphology
is_a: HP:0009808 ! Anomaly of the upper limb diaphyses
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-27T02:28:00Z

[Term]
id: HP:0005926
name: Abnormal hand cortical bone morphology
def: "An anomaly of the outer shell (cortex) of a hand bone." []
synonym: "Abnormality of hand cortical bone" EXACT []
synonym: "Abnormality of the cortex of hand bones" EXACT []
xref: UMLS:C4025105
is_a: HP:0003103 ! Abnormal cortical bone morphology
is_a: HP:0005922 ! Abnormal hand morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-27T02:29:00Z

[Term]
id: HP:0005927
name: Aplasia/hypoplasia involving bones of the hand
def: "Absence (due to failure to form) or underdevelopment of the bones of the hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Hypoplasia/absence of hand bones" EXACT []
xref: UMLS:C4021612
is_a: HP:0005922 ! Abnormal hand morphology
is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-27T02:29:00Z

[Term]
id: HP:0005928
name: Synostosis involving the fibula
synonym: "Bone fusion involving the calf bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025104
is_a: HP:0002991 ! Abnormal fibula morphology
is_a: HP:0009138 ! Synostosis involving bones of the lower limbs
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-27T02:34:00Z

[Term]
id: HP:0005929
name: Synostosis involving the tibia
synonym: "Bone fusion involving the shinbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025103
is_a: HP:0002992 ! Abnormal tibia morphology
is_a: HP:0009138 ! Synostosis involving bones of the lower limbs
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-27T02:34:00Z

[Term]
id: HP:0005930
name: Abnormal epiphysis morphology
alt_id: HP:0000936
def: "An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal shape of end part of bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of epiphysis morphology" EXACT []
synonym: "Abnormality of the epiphyses" EXACT []
synonym: "Anomaly of the epiphyses" EXACT []
synonym: "Epiphyseal abnormality" EXACT []
xref: UMLS:C4021611
is_a: HP:0011314 ! Abnormal long bone morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-27T03:00:00Z

[Term]
id: HP:0005932
name: Abnormal renal corticomedullary differentiation
def: "An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla." [https://orcid.org/0000-0002-0736-9199, PMID:22528889]
comment: On T1-weighted magnetic resonance imaging, the signal intensity of the normal renal cortex is typically higher than medulla, resulting in easily visualized corticomedullary differentiation (CMD). Loss of CMD can be seen in disorders such as glomerulonephritis, acute tubular necrosis, end-stage chronic renal failure, obstructive hydronephrosis, and acute allograft rejection. Progressive corticomedullary differentiation (CMD) can be visualized as an echogenic cortex and a hypoechoic medulla. This CMD should be visible during the midtrimester sonographic evaluation.
xref: UMLS:C4025102
is_a: HP:0011035 ! Abnormal renal cortex morphology
is_a: HP:0100957 ! Abnormal renal medulla morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-27T03:21:00Z

[Term]
id: HP:0005934
name: Imperfect vocal cord adduction
xref: UMLS:C4025101
is_a: HP:0031801 ! Vocal cord dysfunction

[Term]
id: HP:0005938
name: Abnormal respiratory motile cilium morphology
def: "Abnormal arrangement of the structures of the motile cilium." [https://orcid.org/0000-0002-0736-9199, MP:0011050]
xref: UMLS:C4025100
is_a: HP:0012253 ! Abnormal respiratory epithelium morphology

[Term]
id: HP:0005939
name: Multiple bilateral pneumothoraces
xref: UMLS:C4025099
is_a: HP:0002107 ! Pneumothorax

[Term]
id: HP:0005941
name: Intermittent hyperpnea at rest
xref: UMLS:C4025098
is_a: HP:0004879 ! Intermittent hyperventilation

[Term]
id: HP:0005942
name: Desquamative interstitial pneumonitis
def: "Diffuse filling of the distal airspaces of the lungs, the alveoli, with macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally by thickened alveolar septa and by a sparse inflammatory infiltrate that often includes plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal pneumocytes. Lymphoid aggregates may be present." [https://orcid.org/0000-0002-7371-8158, PMID:14338290, PMID:16728712, PMID:16738196, PMID:23728865, PMID:25657025]
comment: The name originated from the belief that the dominant histologic feature was desquamation of epithelial cells. However, this is now recognized to be intra-alveolar macrophage accumulation rather than desquamation of epithelial cells as originally thought by Liebow and Carrington. In adults the condition is almost invariable associated with cigarette smoke. However, rare cases occur in nonsmokers, some of whom have had exposure to environmental inhalation exposures including passive exposure to cigarette smoke. In children genetically caused surfactant dysfunction syndromes may have the histological pattern of DIP.
synonym: "Filling of the alveoli with alveolar macrophages" EXACT []
synonym: "Filling of the alveoli with desquamated epithelial cells" RELATED []
synonym: "Intra-alveolar accumulation of macrophages" RELATED []
xref: SNOMEDCT_US:8549006
xref: UMLS:C0238378
is_a: HP:0006530 ! Abnormal pulmonary interstitial morphology

[Term]
id: HP:0005943
name: Respiratory arrest
synonym: "Breathing cessation" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:87317003
xref: UMLS:C0162297
is_a: HP:0002093 ! Respiratory insufficiency

[Term]
id: HP:0005944
name: Bilateral lung agenesis
alt_id: HP:0006550
def: "Bilateral lack of development of the lungs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent lungs" EXACT layperson []
synonym: "Bilateral pulmonary agenesis" EXACT []
xref: Fyler:4206
xref: UMLS:C4021610
is_a: HP:0006703 ! Aplasia/Hypoplasia of the lungs

[Term]
id: HP:0005945
name: Laryngeal obstruction
def: "Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:61169001
xref: UMLS:C0264306
is_a: HP:0025423 ! Abnormal larynx morphology

[Term]
id: HP:0005946
name: Ventilator dependence with inability to wean
xref: UMLS:C4025097
is_a: HP:0004887 ! Respiratory failure requiring assisted ventilation

[Term]
id: HP:0005947
name: Decreased sensitivity to hypoxemia
def: "Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration." [https://orcid.org/0000-0002-0736-9199]
comment: Note that hypoxia is defined as lack of oxygen in tissues. Hypoxia is usually preceded by hypoxemia (decreased concentration of oxygen in blood).
synonym: "Decreased sensitivity to hypoxaemia" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Decreased sensitivity to hypoxemia" EXACT layperson []
xref: UMLS:C3806286
is_a: HP:0005957 ! Breathing dysregulation

[Term]
id: HP:0005948
name: Multiple pulmonary cysts
def: "The presence of multiple lung cysts." [PMID:20028879]
comment: Emphysematous changes sometimes can be mistaken for multifocal lung cysts. In contrast to true cysts, the cystlike lucencies caused by the destruction of lung parenchyma in emphy-sema do not have walls. Nevertheless, emphysema can be accompanied by multiple cysts, such as bullae, or in association with LCH.
synonym: "Cystic lung disease" EXACT []
synonym: "Multiple lung cysts" EXACT []
xref: UMLS:C1384901
is_a: HP:0032445 ! Pulmonary cyst

[Term]
id: HP:0005949
name: Apneic episodes in infancy
def: "Recurrent episodes of apnea occurring during infancy." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C3807980
is_a: HP:0002104 ! Apnea

[Term]
id: HP:0005950
name: Laryngeal web
def: "A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords." [https://orcid.org/0000-0002-0736-9199]
comment: Manifestations may appear at any age (hoarse or weak voice and frequent upper respiratory infections) but onset usually occurs during infancy (respiratory distress, stridor and an unusual cry).
synonym: "Glottic web" NARROW []
synonym: "Laryngeal webs" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Partial laryngeal atresia" EXACT []
xref: SNOMEDCT_US:297159008
xref: UMLS:C0281890
is_a: HP:0025423 ! Abnormal larynx morphology

[Term]
id: HP:0005951
name: Progressive inspiratory stridor
xref: UMLS:C4025096
is_a: HP:0005348 ! Inspiratory stridor

[Term]
id: HP:0005952
name: obsolete Decreased pulmonary function
is_obsolete: true
replaced_by: HP:0002795

[Term]
id: HP:0005954
name: Pulmonary capillary hemangiomatosis
synonym: "Pulmonary hemangiomas" EXACT []
xref: SNOMEDCT_US:233949008
xref: UMLS:C0340548
is_a: HP:0004930 ! Abnormality of the pulmonary vasculature
is_a: HP:0005306 ! Capillary hemangioma
is_a: HP:0007461 ! Hemangiomatosis

[Term]
id: HP:0005956
name: Anteroposteriorly shortened larynx
def: "Abnormal shortening of the larynx in the anteroposterior (front to back) axis." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C3805994
is_a: HP:0025423 ! Abnormal larynx morphology

[Term]
id: HP:0005957
name: Breathing dysregulation
xref: UMLS:C3808046
is_a: HP:0002795 ! Abnormal respiratory system physiology

[Term]
id: HP:0005959
name: Impaired gluconeogenesis
def: "An impairment of gluconeogenesis." [HPO_CONTRIBUTOR:gcarletti]
synonym: "Gluconeogenesis impaired" EXACT []
xref: UMLS:C3279336
is_a: HP:0011014 ! Abnormal glucose homeostasis

[Term]
id: HP:0005961
name: Hypoargininemia
def: "A decreased concentration of arginine in the blood." [HPO_CONTRIBUTOR:gcarletti]
synonym: "Arginine deficiency" RELATED []
synonym: "Low blood arginine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1859735
xref: UMLS:C4025095
is_a: HP:0010909 ! Abnormal circulating arginine concentration

[Term]
id: HP:0005964
name: Intermittent hypothermia
alt_id: HP:0005970
def: "Episodes of reduced body temperature." [https://orcid.org/0000-0002-0736-9199]
synonym: "Intermittent abnormally low body temperature" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Intermittent hypothermia" EXACT layperson []
xref: UMLS:C1837639
is_a: HP:0002045 ! Hypothermia

[Term]
id: HP:0005967
name: Mixed respiratory and metabolic acidosis
xref: UMLS:C1840372
is_a: HP:0001942 ! Metabolic acidosis

[Term]
id: HP:0005968
name: Temperature instability
def: "Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature." [https://orcid.org/0000-0002-0736-9199]
synonym: "Body temperature instability" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Temperature instability" EXACT layperson []
xref: UMLS:C1820737
xref: UMLS:C3279038
is_a: HP:0004370 ! Abnormality of temperature regulation

[Term]
id: HP:0005972
name: Respiratory acidosis
def: "Acidosis because of respiratory retention of carbon dioxide." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:12326000
xref: UMLS:C0001127
is_a: HP:0001941 ! Acidosis

[Term]
id: HP:0005973
name: Fructose intolerance
def: "Reduced intestinal absorption of fructose. Breath testing after ingestion of fructose has been widely adopted as a standard method of identifying fructose malabsorption and intolerance. A dose of 25 g of fructose dissolved in a 10% solution is generally accepted as the appropriate dose of fructose for clinical use of H2 and CH4 breath testing. High levels of hydrogen in exhaled breath subsequent hours indicate fructose intolerance. Presence of malabsorption and reproduction of symptoms during a breath test provides the best objective evidence and symptom correlation for fructose intolerance." [PMID:24357350]
synonym: "Fructose malabsorption" EXACT []
xref: SNOMEDCT_US:20052008
xref: UMLS:C0016751
is_a: HP:0011033 ! Impairment of fructose metabolism

[Term]
id: HP:0005974
name: Episodic ketoacidosis
alt_id: HP:0005981
alt_id: HP:0005983
def: "Intermittent episodes of ketoacidosis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Ketoacidosis, episodic" EXACT []
xref: UMLS:C1859860
is_a: HP:0001993 ! Ketoacidosis

[Term]
id: HP:0005976
name: Hyperkalemic metabolic acidosis
xref: UMLS:C1865880
is_a: HP:0001942 ! Metabolic acidosis

[Term]
id: HP:0005977
name: Hypochloremic metabolic alkalosis
xref: UMLS:C0740895
is_a: HP:0001948 ! Alkalosis

[Term]
id: HP:0005978
name: Type II diabetes mellitus
alt_id: HP:0005965
alt_id: HP:0100652
def: "A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia." [https://orcid.org/0000-0002-0736-9199]
comment: Persons with type II diabetes mellitus rarely develop ketoacidosis.
synonym: "Diabetes mellitus type 2" RELATED []
synonym: "Diabetes mellitus Type II" EXACT []
synonym: "Diabetes mellitus, noninsulin-dependent" EXACT []
synonym: "NIDDM" EXACT abbreviation [https://orcid.org/0000-0002-5316-1399]
synonym: "NIDDM diabetes mellitus" EXACT []
synonym: "Non-insulin dependent diabetes" EXACT []
synonym: "Noninsulin dependent diabetes mellitus" EXACT []
synonym: "Noninsulin-dependent diabetes" EXACT layperson []
synonym: "Noninsulin-dependent diabetes mellitus" RELATED []
synonym: "Type 2 diabetes" EXACT layperson []
synonym: "Type II diabetes" EXACT layperson []
xref: SNOMEDCT_US:44054006
xref: UMLS:C0011860
is_a: HP:0000819 ! Diabetes mellitus

[Term]
id: HP:0005979
name: Metabolic ketoacidosis
alt_id: HP:0005971
def: "A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake." []
synonym: "Starvation ketoacidosis" EXACT []
xref: UMLS:C1854704
is_a: HP:0001942 ! Metabolic acidosis
is_a: HP:0001993 ! Ketoacidosis

[Term]
id: HP:0005982
name: Reduced phenylalanine hydroxylase level
def: "A reduction in phenylalanine 4-monooxygenase level." [https://orcid.org/0000-0002-0736-9199]
synonym: "Phenylalanine hydroxylase deficiency" RELATED []
xref: SNOMEDCT_US:7573000
xref: UMLS:C0751434
xref: UMLS:C4025094
is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity

[Term]
id: HP:0005984
name: obsolete Elevated maternal serum alpha-fetoprotein
is_obsolete: true
replaced_by: HP:0011432

[Term]
id: HP:0005986
name: Limitation of neck motion
synonym: "Limitation of neck motion" EXACT layperson []
synonym: "Limited neck mobility" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Restricted neck movement" EXACT []
xref: SNOMEDCT_US:161882006
xref: SNOMEDCT_US:405947006
xref: UMLS:C0151315
xref: UMLS:C1320474
xref: UMLS:C1847392
is_a: HP:0025669 ! Abnormal neck physiology

[Term]
id: HP:0005987
name: Multinodular goiter
def: "Enlargement of the thyroid gland related to multiple nodules in the thyroid gland." [https://orcid.org/0000-0002-0538-4547]
synonym: "Multinodular goitre" EXACT uk_spelling []
xref: SNOMEDCT_US:237570007
xref: UMLS:C0342208
is_a: HP:0005994 ! Nodular goiter

[Term]
id: HP:0005988
name: Congenital muscular torticollis
def: "A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending." [https://orcid.org/0000-0002-0736-9199]
comment: Congenital muscular torticollis is thought to result from injury to the sternocleidomastoid muscle during birth trauma, resulting in fibrosis and unilateral shortening of the sternocleidomastoid muscle. Congenital muscular torticollis is thus etiologically and phenotypically distinct from spasmodic torticollis.
synonym: "Torticollis, congenital" EXACT []
xref: SNOMEDCT_US:268240006
xref: UMLS:C0079352
is_a: HP:0011006 ! Abnormal morphology of the musculature of the neck

[Term]
id: HP:0005989
name: Redundant neck skin
alt_id: HP:0005993
alt_id: HP:0005996
def: "Excess skin around the neck, often lying in horizontal folds." [PMID:19125436]
comment: With age and increased vertical growth of the neck, excess nuchal skin may disappear and the neck may become broad or webbed. If the skin folds are vertical or paravertical, the term Neck webbing should be used.
synonym: "Excess neck skin" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Excess skin over the neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Excessive nuchal skin" EXACT []
synonym: "Redundant neck skin" EXACT layperson []
synonym: "Redundant nuchal skin" EXACT []
synonym: "Redundant skin folds of neck" EXACT layperson []
synonym: "Redundant skin over the neck" EXACT layperson []
xref: UMLS:C1840319
is_a: HP:0001582 ! Redundant skin
is_a: HP:0025668 ! Abnormal neck morphology

[Term]
id: HP:0005990
name: Thyroid hypoplasia
def: "Developmental hypoplasia of the thyroid gland." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic thyroid" EXACT []
synonym: "Small thyroid gland" EXACT layperson []
xref: SNOMEDCT_US:367524008
xref: UMLS:C0151516
is_a: HP:0033079 ! Aplasia/Hypoplasia of the thyroid gland

[Term]
id: HP:0005991
name: Limited neck flexion
def: "Reduced ability to lower the chin towards the chest by bending the neck." []
synonym: "Limited cervical flexion" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Limited neck flexibility" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1864449
is_a: HP:0005986 ! Limitation of neck motion

[Term]
id: HP:0005994
name: Nodular goiter
def: "Enlargement of the thyroid gland related to one or more nodules in the thyroid gland." [https://orcid.org/0000-0002-0736-9199]
synonym: "Nodular goitre" EXACT uk_spelling []
xref: SNOMEDCT_US:419153005
xref: UMLS:C0018023
is_a: HP:0000853 ! Goiter

[Term]
id: HP:0005995
name: Decreased adipose tissue around neck
def: "Reduced amount of adipose tissue in the region of the neck." [https://orcid.org/0000-0002-0736-9199]
synonym: "Loss of adipose tissue around the neck" EXACT []
synonym: "Loss of fat around neck" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1837763
is_a: HP:0003758 ! Reduced subcutaneous adipose tissue

[Term]
id: HP:0005997
name: Neck joint contracture
synonym: "Neck joint contracture" EXACT []
synonym: "Restricted neck mobility due to contractures" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Restricted neck movement due to contractures" EXACT layperson []
xref: UMLS:C1867006
is_a: HP:0001371 ! Flexion contracture
is_a: HP:0005986 ! Limitation of neck motion

[Term]
id: HP:0005999
name: Ureteral atresia
def: "A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:204974003
xref: SNOMEDCT_US:49534003
xref: UMLS:C0266320
is_a: HP:0025633 ! Abnormal ureter morphology

[Term]
id: HP:0006000
name: Ureteral obstruction
def: "Obstruction of the flow of urine through the ureter." [https://orcid.org/0000-0002-0736-9199]
xref: Fyler:4492
xref: SNOMEDCT_US:20018005
xref: UMLS:C0041956
is_a: HP:0025634 ! Abnormal ureter physiology

[Term]
id: HP:0006006
name: Hypotrophy of the small hand muscles
synonym: "Degeneration of small hand muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1843228
is_a: HP:0001421 ! Abnormality of the musculature of the hand

[Term]
id: HP:0006008
name: Unilateral brachydactyly
synonym: "Short digits on one side" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1868164
xref: UMLS:C4280467
is_a: HP:0001156 ! Brachydactyly

[Term]
id: HP:0006009
name: Broad phalanx
alt_id: HP:0006030
alt_id: HP:0006249
def: "Increased side-to-side width of one or more phalanges of the fingers or toes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad phalanges" EXACT []
synonym: "Wide digital bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Wide phalanges" EXACT []
synonym: "Widened phalanges" EXACT []
xref: UMLS:C1855185
is_a: HP:0005622 ! Broad long bones
is_a: HP:0011297 ! Abnormal digit morphology

[Term]
id: HP:0006011
name: Cuboidal metacarpal
def: "Severely shortened metacarpal with a cuboidal appearance." [https://orcid.org/0000-0002-0736-9199]
comment: The metacarpals are normally tubular in appearance.
synonym: "Short, cube shaped long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025093
is_a: HP:0010049 ! Short metacarpal

[Term]
id: HP:0006012
name: Widened metacarpal shaft
synonym: "Broad shaft of long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1850159
is_a: HP:0005916 ! Abnormal metacarpal morphology

[Term]
id: HP:0006014
name: Abnormally shaped carpal bones
synonym: "Abnormally shaped wrist bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1860111
is_a: HP:0001191 ! Abnormal carpal morphology

[Term]
id: HP:0006016
name: Delayed phalangeal epiphyseal ossification
def: "Delay in the process of formation and maturation of the epiphysis of one or more phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Delayed bone maturation of end part of digital bone" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Delayed phalangeal epiphyseal bone maturation" EXACT []
xref: UMLS:C4021609
is_a: HP:0002663 ! Delayed epiphyseal ossification

[Term]
id: HP:0006019
name: Reduced proximal interphalangeal joint space
synonym: "Decreased space in hinge joint" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1861396
is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand

[Term]
id: HP:0006026
name: Rounded epiphyses
synonym: "Rounded end part of bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1850632
is_a: HP:0005924 ! Abnormal hand epiphysis morphology

[Term]
id: HP:0006028
name: Metaphyseal cupping of metacarpals
alt_id: HP:0006131
def: "Metaphyseal cupping affecting the metacarpal bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cupping of wide portion of long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Metacarpal/metaphyseal cupping" EXACT []
xref: UMLS:C1855171
is_a: HP:0003021 ! Metaphyseal cupping

[Term]
id: HP:0006035
name: Cone-shaped epiphyses of phalanges 2 to 5
synonym: "Cone-shaped end part of digital bones 2 to 5" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1857005
is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand

[Term]
id: HP:0006040
name: Long second metacarpal
synonym: "Long 2nd long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1861531
is_a: HP:0010036 ! Aplasia/Hypoplasia of the 2nd metacarpal

[Term]
id: HP:0006042
name: Y-shaped metacarpals
def: "Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly." [https://orcid.org/0000-0002-0736-9199]
synonym: "Y-shaped long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1861373
is_a: HP:0005916 ! Abnormal metacarpal morphology

[Term]
id: HP:0006045
name: Short pointed phalanges
synonym: "Short pointed digital bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1849740
is_a: HP:0009803 ! Short phalanx of finger

[Term]
id: HP:0006048
name: Distal widening of metacarpals
def: "Abnormal increase in width of the distal region of the metacarpal bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Wide outermost end of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1865254
is_a: HP:0005916 ! Abnormal metacarpal morphology

[Term]
id: HP:0006051
name: Metacarpal periosteal thickening
xref: UMLS:C1834347
is_a: HP:0005916 ! Abnormal metacarpal morphology
is_a: HP:0030313 ! Abnormal periosteum morphology

[Term]
id: HP:0006055
name: Ulnar deviated club hands
xref: UMLS:C1833881
is_a: HP:0009487 ! Ulnar deviation of the hand

[Term]
id: HP:0006059
name: Cone-shaped metacarpal epiphyses
def: "A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cone-shaped end part of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Metacarpal cone-shaped epiphyses" RELATED []
xref: UMLS:C1855239
is_a: HP:0005913 ! Abnormal metacarpal epiphysis morphology
is_a: HP:0010579 ! Cone-shaped epiphysis

[Term]
id: HP:0006060
name: Tombstone-shaped proximal phalanges
synonym: "Tombstone-shaped innermost digital bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1862420
is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand

[Term]
id: HP:0006064
name: Limited interphalangeal movement
synonym: "Limited movement of hinge joints" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1840089
is_a: HP:0001376 ! Limitation of joint mobility
is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand

[Term]
id: HP:0006067
name: Multiple carpal ossification centers
def: "A delay in the process of formation and maturation of the epiphysis of one or more long bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Multiple carpal ossification centres" EXACT uk_spelling []
xref: UMLS:C1835573
is_a: HP:0006257 ! Abnormality of carpal bone ossification

[Term]
id: HP:0006069
name: obsolete Severe carpal ossification delay
is_obsolete: true
replaced_by: HP:0001216

[Term]
id: HP:0006070
name: Metacarpophalangeal joint contracture
alt_id: HP:0005674
def: "A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement." [https://orcid.org/0000-0002-0736-9199]
comment: In the literature this has been called metacarpophalangeal camptodactyly, but the term camptodactyly should be reserved for a painless flexion contracture of the proximal interphalangeal (PIP) joint.
synonym: "Metacarpal/phalangeal joint contractures" EXACT []
xref: UMLS:C2677209
is_a: HP:0011911 ! Abnormal metacarpophalangeal joint morphology

[Term]
id: HP:0006077
name: Absent proximal finger flexion creases
def: "Absence of the proximal interphalangeal flexion creases of the fingers." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1850048
is_a: HP:0006109 ! Absent phalangeal crease

[Term]
id: HP:0006086
name: Thin metacarpal cortices
xref: UMLS:C1850160
is_a: HP:0005916 ! Abnormal metacarpal morphology

[Term]
id: HP:0006088
name: 1-5 finger complete cutaneous syndactyly
xref: UMLS:C1861357
is_a: HP:0010554 ! Cutaneous finger syndactyly

[Term]
id: HP:0006089
name: Palmar hyperhidrosis
synonym: "Excessive sweating of hands" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1856953
is_a: HP:0000975 ! Hyperhidrosis
is_a: HP:0040211 ! Abnormal skin morphology of the palm

[Term]
id: HP:0006092
name: Malaligned carpal bone
def: "Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna)." [https://orcid.org/0009-0006-4530-3154]
synonym: "Incorrect alignment of wrist bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1856742
is_a: HP:0001191 ! Abnormal carpal morphology

[Term]
id: HP:0006094
name: Finger joint hypermobility
synonym: "Increased mobility in finger joint" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:298193009
xref: UMLS:C0574974
is_a: HP:0001167 ! Abnormal finger morphology
is_a: HP:0006256 ! Abnormality of hand joint mobility
is_a: HP:0430046 ! Small joint hypermobilty

[Term]
id: HP:0006095
name: Wide tufts of distal phalanges
synonym: "Wide tips of outermost digital bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1835101
is_a: HP:0006200 ! Widened distal phalanges

[Term]
id: HP:0006097
name: 3-4 finger osseus syndactyly
alt_id: HP:0006133
def: "Fusion of the third (middle) and fourth (ring) finger, involving soft parts and including fusion of individual finger bones." [https://orcid.org/0009-0006-4530-3154]
synonym: "Partial or complete syndactyly 3rd-4th fingers" EXACT []
synonym: "Webbed 3rd-4th finger" EXACT []
synonym: "Webbed 3rd-4th fingers" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1856889
is_a: HP:0010492 ! Osseous finger syndactyly

[Term]
id: HP:0006099
name: Metacarpophalangeal joint hyperextensibility
def: "Increased mobility of one ore more metacarpophalangeal joint." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025092
is_a: HP:0011911 ! Abnormal metacarpophalangeal joint morphology

[Term]
id: HP:0006101
name: Finger syndactyly
alt_id: HP:0006057
def: "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \"Symphalangism\"." [https://orcid.org/0000-0002-0736-9199]
synonym: "Partial syndactyly" EXACT []
xref: SNOMEDCT_US:249769001
xref: SNOMEDCT_US:268251006
xref: SNOMEDCT_US:34048007
xref: UMLS:C0221352
is_a: HP:0001159 ! Syndactyly

[Term]
id: HP:0006106
name: Absent trapezoid bone
xref: UMLS:C1847191
is_a: HP:0004256 ! Abnormal trapezoid bone morphology

[Term]
id: HP:0006107
name: Fingerpad telangiectases
alt_id: HP:0006246
def: "Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers." [https://orcid.org/0000-0002-0736-9199]
synonym: "Finger pad telangiectases" EXACT []
synonym: "Small dilated blood vessels in fingerpads" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1861248
is_a: HP:0100585 ! Telangiectasia of the skin

[Term]
id: HP:0006108
name: Tapered metacarpals
def: "Metacarpal that becomes thinner toward the distal end." [https://orcid.org/0000-0002-0736-9199]
synonym: "Tapered long bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025091
is_a: HP:0005916 ! Abnormal metacarpal morphology

[Term]
id: HP:0006109
name: Absent phalangeal crease
alt_id: HP:0006031
def: "Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent interphalangeal creases" EXACT []
synonym: "Aplasia of the interphalangeal creases" RELATED []
xref: UMLS:C1862479
xref: UMLS:C4020821
is_a: HP:0006143 ! Abnormal finger flexion crease

[Term]
id: HP:0006110
name: Shortening of all middle phalanges of the fingers
def: "Short, hypoplastic middle phalanx of finger, affecting all fingers." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1856912
is_a: HP:0005819 ! Short middle phalanx of finger

[Term]
id: HP:0006112
name: Expanded phalanges with widened medullary cavities
xref: UMLS:C1969287
is_a: HP:0009768 ! Broad phalanges of the hand

[Term]
id: HP:0006114
name: Multiple palmar creases
def: "The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Multiple palm lines" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1861872
is_a: HP:0010490 ! Abnormality of the palmar creases

[Term]
id: HP:0006118
name: Shortening of all distal phalanges of the fingers
alt_id: HP:0005658
def: "Hypoplasia of all of the distal phalanx of finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Brachytelephalangy" RELATED []
synonym: "Shortening of all outermost bones of the fingers" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021608
is_a: HP:0009882 ! Short distal phalanx of finger

[Term]
id: HP:0006119
name: Proximal tapering of metacarpals
def: "Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance." [https://orcid.org/0009-0006-4530-3154]
subset: hposlim_core
synonym: "Pointed innermost long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Pointed proximal metacarpals" EXACT [https://orcid.org/0009-0006-4530-3154]
xref: UMLS:C1854749
is_a: HP:0005916 ! Abnormal metacarpal morphology

[Term]
id: HP:0006121
name: Acral ulceration
alt_id: HP:0001226
alt_id: HP:0001862
alt_id: HP:0005040
def: "A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe." [PMID:20862203]
xref: UMLS:C1860099
is_a: HP:0031917 ! Digital ulcer

[Term]
id: HP:0006127
name: Long proximal phalanx of finger
def: "Increased length of the proximal phalanx of finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Long innermost finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025090
is_a: HP:0006155 ! Long phalanx of finger
is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand

[Term]
id: HP:0006129
name: Drumstick terminal phalanges
def: "Rounding and broadening of the tufts of the distal phalanges." [https://orcid.org/0000-0002-0736-9199]
comment: This designation is supposed to refer to the widening of the meaty end of a chicken drumstick (lower leg).
synonym: "Drumstick shaped digital bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1844822
is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger

[Term]
id: HP:0006134
name: Enlarged metacarpal epiphyses
def: "Abnormally large size of one or more growth plates (epiphyses) of the metacarpal bones (i.e., the tubular bones of the hand between the carpus and the phalanges)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlarged end part of long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1865035
is_a: HP:0005913 ! Abnormal metacarpal epiphysis morphology
is_a: HP:0010580 ! Enlarged epiphyses

[Term]
id: HP:0006135
name: Decreased finger mobility
synonym: "Decreased finger mobility" EXACT layperson []
synonym: "Decreased finger movement" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1862133
is_a: HP:0006256 ! Abnormality of hand joint mobility

[Term]
id: HP:0006136
name: Bilateral postaxial polydactyly
xref: UMLS:C1855003
is_a: HP:0001162 ! Postaxial hand polydactyly

[Term]
id: HP:0006140
name: Premature fusion of phalangeal epiphyses
def: "Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth." [https://orcid.org/0000-0002-0736-9199]
synonym: "Premature fusion of end part of digital bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1855620
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
is_a: HP:0010656 ! Abnormal epiphyseal ossification

[Term]
id: HP:0006143
name: Abnormal finger flexion crease
def: "Anomalous flexion crease (i.e., a transverse line that crosses the skin of a finger)." []
synonym: "Abnormal finger flexion creases" EXACT plural_form []
xref: UMLS:C1859481
is_a: HP:0001167 ! Abnormal finger morphology

[Term]
id: HP:0006144
name: Shortening of all proximal phalanges of the fingers
alt_id: HP:0006021
def: "Congenital hypoplasia of proximal phalanx of finger or all fingers." [https://orcid.org/0000-0002-0736-9199]
synonym: "Shortening of all innermost bones of the fingers" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025089
is_a: HP:0010241 ! Short proximal phalanx of finger

[Term]
id: HP:0006145
name: Central Y-shaped metacarpal
def: "A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal." [https://orcid.org/0000-0002-0736-9199]
synonym: "Y-shaped central long bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1848597
is_a: HP:0006042 ! Y-shaped metacarpals

[Term]
id: HP:0006146
name: Broad metacarpal epiphyses
def: "Increased side-to-side width of the metacarpal epiphyses." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad end part of long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025088
is_a: HP:0005913 ! Abnormal metacarpal epiphysis morphology

[Term]
id: HP:0006147
name: Progressive fusion 2nd-5th pip joints
xref: UMLS:C1861310
is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand

[Term]
id: HP:0006149
name: Increased laxity of fingers
xref: UMLS:C1850855
is_a: HP:0006094 ! Finger joint hypermobility

[Term]
id: HP:0006150
name: Swan neck-like deformities of the fingers
def: "A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1849152
is_a: HP:0001167 ! Abnormal finger morphology

[Term]
id: HP:0006152
name: Proximal symphalangism of hands
alt_id: HP:0006005
def: "The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases." [https://orcid.org/0009-0006-4530-3154]
synonym: "Fused innermost hinge joints" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Proximal interphalangeal joint synostoses" EXACT []
xref: UMLS:C4021607
is_a: HP:0009700 ! Finger symphalangism
is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand
is_a: HP:0100264 ! Proximal symphalangism

[Term]
id: HP:0006153
name: obsolete Disharmonious carpal bone
is_obsolete: true
replaced_by: HP:0006257

[Term]
id: HP:0006155
name: Long phalanx of finger
def: "Increased length of multiple or a single phalanx of finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Long finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025087
is_a: HP:0005918 ! Abnormal finger phalanx morphology

[Term]
id: HP:0006156
name: Ulnar deviation of thumb
def: "Bending or curvature of a thumb towards the ulnar side (towards the ring finger)." [https://orcid.org/0000-0002-0736-9199, PMID:10955488]
synonym: "Curved thumb deviated towards palm" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Ulnar deviation of the 1st finger" EXACT []
xref: SNOMEDCT_US:299137000
xref: UMLS:C0575904
xref: UMLS:C4280465
is_a: HP:0009465 ! Ulnar deviation of finger
is_a: HP:0009603 ! Deviation of the thumb

[Term]
id: HP:0006157
name: Prominent palmar flexion creases
synonym: "Prominent life line" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1865131
xref: UMLS:C4280464
is_a: HP:0010490 ! Abnormality of the palmar creases

[Term]
id: HP:0006158
name: obsolete Finger joint hyperextensibility
is_obsolete: true

[Term]
id: HP:0006159
name: Mesoaxial hand polydactyly
alt_id: HP:0001496
alt_id: HP:0004056
def: "The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Central hand polydactyly" RELATED []
synonym: "Interdigital finger polydactyly" EXACT []
xref: UMLS:C4021606
is_a: HP:0001161 ! Hand polydactyly
is_a: HP:0100260 ! Mesoaxial polydactyly

[Term]
id: HP:0006160
name: Irregular metacarpals
def: "Irregular morphology of one or more metacarpal bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular long bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025086
is_a: HP:0005916 ! Abnormal metacarpal morphology

[Term]
id: HP:0006161
name: Short metacarpals with rounded proximal ends
synonym: "Short long bone of hand with rounded innermost ends" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1856471
is_a: HP:0010049 ! Short metacarpal

[Term]
id: HP:0006162
name: Soft tissue swelling of interphalangeal joints
synonym: "Soft tissue swelling of hinge joints" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1854913
is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand

[Term]
id: HP:0006163
name: Enlarged metacarpophalangeal joints
xref: UMLS:C1859700
is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand

[Term]
id: HP:0006165
name: Proportionate shortening of all digits
synonym: "Proportionate shortening of all digits" EXACT layperson []
xref: UMLS:C1862157
is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers

[Term]
id: HP:0006166
name: Tubular metacarpal bones
synonym: "Cylindrical shaped long bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1859369
is_a: HP:0005916 ! Abnormal metacarpal morphology

[Term]
id: HP:0006167
name: Prominent proximal interphalangeal joints
synonym: "Prominent innermost hinge joints" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025085
is_a: HP:0006237 ! Prominent interphalangeal joints

[Term]
id: HP:0006169
name: Decreased mobility 3rd-5th fingers
synonym: "Decreased mobility 3rd-5th fingers" EXACT layperson []
xref: UMLS:C1833882
is_a: HP:0006135 ! Decreased finger mobility

[Term]
id: HP:0006170
name: Chess-pawn distal phalanges
def: "A morphological abnormality of distal phalanges such that they have the appearance of chess pawns." [https://orcid.org/0000-0002-0736-9199]
synonym: "Chess-pawn shaped outermost bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1862097
is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger

[Term]
id: HP:0006172
name: Flattened, squared-off epiphyses of tubular bones
synonym: "Flattened, squared-off end part of tubular bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1834961
is_a: HP:0003053 ! Epiphyseal deformities of tubular bones
is_a: HP:0003071 ! Flattened epiphysis

[Term]
id: HP:0006174
name: Metacarpal diaphyseal endosteal sclerosis
def: "Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1840419
is_a: HP:0005916 ! Abnormal metacarpal morphology
is_a: HP:0011001 ! Increased bone mineral density

[Term]
id: HP:0006175
name: Proximal phalangeal periosteal thickening
synonym: "Thickening of connective tissue of innermost finger bone" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1834348
xref: UMLS:C4280463
is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand
is_a: HP:0030313 ! Abnormal periosteum morphology

[Term]
id: HP:0006176
name: Two carpal ossification centers present at birth
synonym: "Two carpal ossification centres present at birth" EXACT uk_spelling []
xref: UMLS:C1839285
is_a: HP:0006257 ! Abnormality of carpal bone ossification

[Term]
id: HP:0006179
name: Pseudoepiphyses of second metacarpal
alt_id: HP:0010221
synonym: "Extra bone on end of second long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Pseudoepiphysis of the 2nd metacarpal" EXACT []
xref: UMLS:C1862693
is_a: HP:0009193 ! Metacarpal pseudoepiphysis
is_a: HP:0010220 ! Abnormality of the epiphysis of the 2nd metacarpal

[Term]
id: HP:0006180
name: Crowded carpal bones
synonym: "Crowded wrist bones" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1863317
is_a: HP:0001191 ! Abnormal carpal morphology

[Term]
id: HP:0006184
name: Decreased palmar creases
alt_id: HP:0006178
def: "Poorly defined or shallow palmar creases." [PMID:19125433]
subset: hposlim_core
synonym: "Hypoplastic palmar creases" EXACT []
synonym: "Poorly formed palmar creases" EXACT []
synonym: "Shallow palm line" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Shallow palmar creases" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1857483
is_a: HP:0010488 ! Aplasia/Hypoplasia of the palmar creases

[Term]
id: HP:0006185
name: Enlarged proximal interphalangeal joints
synonym: "Enlarged innermost hinge joint" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1861350
is_a: HP:0006247 ! Enlarged interphalangeal joints

[Term]
id: HP:0006187
name: obsolete Fusion of midphalangeal joints
is_obsolete: true
replaced_by: HP:0009773

[Term]
id: HP:0006189
name: Prominent interdigital folds
xref: UMLS:C1866000
is_a: HP:0001018 ! Abnormal palmar dermatoglyphics

[Term]
id: HP:0006190
name: Radially deviated wrists
xref: UMLS:C1861316
is_a: HP:0009486 ! Radial deviation of the hand

[Term]
id: HP:0006191
name: Deep palmar crease
def: "Excessively deep creases of the palm." [PMID:19125433]
subset: hposlim_core
synonym: "Deep palm line" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Deep palmar creases" EXACT []
xref: UMLS:C1857539
is_a: HP:0010490 ! Abnormality of the palmar creases

[Term]
id: HP:0006192
name: Tapered phalanx of finger
def: "Phalanges of the fingers becoming thinner toward the distal end." [https://orcid.org/0000-0002-0736-9199]
synonym: "Tapered finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025084
is_a: HP:0005918 ! Abnormal finger phalanx morphology

[Term]
id: HP:0006193
name: Thimble-shaped middle phalanges of hand
def: "The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat." [https://orcid.org/0000-0002-0736-9199]
synonym: "Thimble-shaped middle bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025083
is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand

[Term]
id: HP:0006200
name: Widened distal phalanges
synonym: "Widened outermost bone of limb" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1862421
is_a: HP:0006009 ! Broad phalanx

[Term]
id: HP:0006201
name: Hypermobility of distal interphalangeal joints
synonym: "Increased mobility of outermost hinge joint" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1851811
is_a: HP:0005620 ! Hypermobility of interphalangeal joints

[Term]
id: HP:0006202
name: Osteolysis of scaphoids
xref: UMLS:C4025082
is_a: HP:0004243 ! Abnormal scaphoid morphology
is_a: HP:0009699 ! Osteolytic defects of the hand bones

[Term]
id: HP:0006203
name: Decreased movement range in interphalangeal joints
synonym: "Decreased range of movement range in hinge joints" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1836772
is_a: HP:0001376 ! Limitation of joint mobility
is_a: HP:0006135 ! Decreased finger mobility

[Term]
id: HP:0006205
name: Irregular phalanges
def: "Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular finger bones" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4025081
is_a: HP:0005918 ! Abnormal finger phalanx morphology

[Term]
id: HP:0006206
name: Hypersegmentation of proximal phalanx of second finger
def: "Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger." [https://orcid.org/0000-0002-0736-9199]
comment: This anomaly is characteristic for brachydactyly type C.
xref: UMLS:C4025080
is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger

[Term]
id: HP:0006207
name: Partial fusion of carpals
xref: UMLS:C1844519
is_a: HP:0009702 ! Carpal synostosis

[Term]
id: HP:0006208
name: Metaphyseal cupping of proximal phalanges
def: "Metaphyseal cupping affecting the proximal phalanges." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1834980
is_a: HP:0003021 ! Metaphyseal cupping

[Term]
id: HP:0006209
name: Partial-complete absence of 5th phalanges
synonym: "Partial-complete absence of 5th digital bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1867928
is_a: HP:0006262 ! Aplasia/Hypoplasia of the 5th finger

[Term]
id: HP:0006210
name: Postaxial oligodactyly
xref: UMLS:C1867927
is_a: HP:0009380 ! Finger aplasia

[Term]
id: HP:0006213
name: Thin proximal phalanges with broad epiphyses of the hand
comment: removed the logical def: 'has part' some (('decreased thickness' and ('inheres in' some 'proximal phalanx of manus') and ('has modifier' some abnormal)) and ('has part' some ('increased width' and ('inheres in' some 'epiphysis of proximal phalanx of manus'))) and ('has modifier' some abnormal))
synonym: "Thin innermost bone with broad end part of the hand bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Thin proximal phalanges with broad epiphyses" BROAD []
xref: UMLS:C1862156
xref: UMLS:C4025079
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand

[Term]
id: HP:0006216
name: Single interphalangeal crease of fifth finger
alt_id: HP:0006245
def: "Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fifth finger single interphalangeal crease" EXACT []
xref: UMLS:C1850336
is_a: HP:0006109 ! Absent phalangeal crease

[Term]
id: HP:0006217
name: Limited mobility of proximal interphalangeal joint
synonym: "Limited mobility of innermost hinge joint" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1857288
is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand

[Term]
id: HP:0006224
name: Tapering pointed ends of distal finger phalanges
def: "A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms)." [https://orcid.org/0000-0002-0736-9199, PMID:10662807]
xref: UMLS:C4025078
is_a: HP:0009884 ! Tapered distal phalanges of finger

[Term]
id: HP:0006226
name: Osteoarthritis of the first carpometacarpal joint
xref: SNOMEDCT_US:37895003
xref: UMLS:C0409956
is_a: HP:0004268 ! Osteoarthritis of the small joints of the hand

[Term]
id: HP:0006228
name: Valgus hand deformity
xref: UMLS:C1860179
is_a: HP:0005922 ! Abnormal hand morphology

[Term]
id: HP:0006230
name: Unilateral oligodactyly
xref: UMLS:C3805861
is_a: HP:0009380 ! Finger aplasia

[Term]
id: HP:0006232
name: Expanded metacarpals with widened medullary cavities
xref: UMLS:C1969288
is_a: HP:0005916 ! Abnormal metacarpal morphology

[Term]
id: HP:0006233
name: Osteoarthritis of the distal interphalangeal joint
xref: SNOMEDCT_US:239869009
xref: UMLS:C0409957
is_a: HP:0004268 ! Osteoarthritis of the small joints of the hand

[Term]
id: HP:0006234
name: Osteolysis involving tarsal bones
alt_id: HP:0001858
def: "An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones." [https://orcid.org/0009-0006-4530-3154]
synonym: "Tarsal bone osteolysis" EXACT []
synonym: "Tarsal osteolysis" EXACT []
xref: UMLS:C1833735
is_a: HP:0001850 ! Abnormality of the tarsal bones
is_a: HP:0009134 ! Osteolysis involving bones of the feet
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-17T02:39:00Z

[Term]
id: HP:0006236
name: Slender metacarpals
def: "Decreased width of the metacarpal bones (that is, reduced diameter)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Slender long bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025077
is_a: HP:0005916 ! Abnormal metacarpal morphology

[Term]
id: HP:0006237
name: Prominent interphalangeal joints
synonym: "Prominent hinge joints" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1859115
is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand

[Term]
id: HP:0006239
name: Shortening of all middle phalanges of the toes
def: "Abnormal shortening of all middle phalanges of toes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Brachymesophalangy of feet" EXACT []
synonym: "Shortening of all the middle bones of the toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021605
is_a: HP:0003795 ! Short middle phalanx of toe

[Term]
id: HP:0006243
name: Phalangeal dislocation
xref: UMLS:C2673396
is_a: HP:0001373 ! Joint dislocation
is_a: HP:0005918 ! Abnormal finger phalanx morphology

[Term]
id: HP:0006247
name: Enlarged interphalangeal joints
synonym: "Enlarged hinge joints" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1859701
is_a: HP:0003037 ! Enlarged joints
is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand

[Term]
id: HP:0006248
name: Limited wrist movement
def: "An abnormal limitation of the mobility of the wrist." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Limited movement of the wrist" EXACT layperson []
synonym: "Limited wrist movement" EXACT layperson []
xref: UMLS:C1840088
is_a: HP:0001376 ! Limitation of joint mobility
is_a: HP:0025799 ! Abnormal wrist physiology

[Term]
id: HP:0006251
name: Limited wrist extension
xref: UMLS:C1862481
is_a: HP:0006248 ! Limited wrist movement

[Term]
id: HP:0006252
name: Interphalangeal joint erosions
xref: UMLS:C1850158
is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand

[Term]
id: HP:0006253
name: Swelling of proximal interphalangeal joints
synonym: "Swelling of innermost hinge joints" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1860841
is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand

[Term]
id: HP:0006254
name: Elevated circulating alpha-fetoprotein concentration
def: "Concentration of alpha-fetoprotein in the blood circulation above the upper limit of normal." [HPO_CONTRIBUTOR:gcarletti]
comment: An elevation of alpha-feto protein, which is produced by the fetal liver and the yolk sac and may be increased in the serum of pregnant women with a fetus with some types of developmental anomaly such as open neural tube defects and omphalocele.
synonym: "Alpha fetoprotein abnormal" RELATED []
synonym: "Increased levels of alpha fetoprotein" EXACT []
synonym: "Increased serum alpha-fetoprotein" EXACT []
synonym: "Serum alpha-fetoprotein increased" EXACT []
xref: UMLS:C0235971
xref: UMLS:C0476489
is_a: HP:0045056 ! Abnormal circulating alpha-fetoprotein concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T09:17:00Z

[Term]
id: HP:0006256
name: Abnormality of hand joint mobility
synonym: "Abnormality of hand joint mobility" EXACT layperson []
xref: UMLS:C4025076
is_a: HP:0001155 ! Abnormality of the hand
is_a: HP:0011729 ! Abnormality of joint mobility
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T10:14:00Z

[Term]
id: HP:0006257
name: Abnormality of carpal bone ossification
alt_id: HP:0006153
synonym: "Abnormal wrist bone maturation" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025075
is_a: HP:0001191 ! Abnormal carpal morphology
is_a: HP:0010660 ! Abnormal hand bone ossification
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T02:29:00Z

[Term]
id: HP:0006261
name: Abnormal phalangeal joint morphology of the hand
alt_id: HP:0004266
synonym: "Abnormality of phalangeal joints of the hand" EXACT []
synonym: "Abnormality of the small joints of the hand" EXACT layperson []
xref: UMLS:C4021604
is_a: HP:0005918 ! Abnormal finger phalanx morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T02:55:00Z

[Term]
id: HP:0006262
name: Aplasia/Hypoplasia of the 5th finger
def: "A small/hypoplastic or absent/aplastic 5th finger." [https://orcid.org/0009-0006-4530-3154]
synonym: "Absent/small little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/small pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/small pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025074
is_a: HP:0004207 ! Abnormal 5th finger morphology
is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T02:59:00Z

[Term]
id: HP:0006263
name: Abnormality of the epiphyses of the 2nd finger
def: "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the end part of the index finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025073
is_a: HP:0004100 ! Abnormal 2nd finger morphology
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T03:04:00Z

[Term]
id: HP:0006264
name: Aplasia/Hypoplasia of the 2nd finger
def: "A small/hypoplastic or absent/aplastic 2nd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025072
is_a: HP:0004100 ! Abnormal 2nd finger morphology
is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T03:06:00Z

[Term]
id: HP:0006265
name: Aplasia/Hypoplasia of fingers
def: "Small/hypoplastic or absent/aplastic fingers." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small fingers" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped fingers" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025071
is_a: HP:0001167 ! Abnormal finger morphology
is_a: HP:0005927 ! Aplasia/hypoplasia involving bones of the hand
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T03:09:00Z

[Term]
id: HP:0006266
name: Small placenta
def: "Reduced size of the placenta." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small placenta" EXACT layperson []
xref: SNOMEDCT_US:289264006
xref: UMLS:C0566694
is_a: HP:0012767 ! Abnormal placental size

[Term]
id: HP:0006267
name: Large placenta
def: "Increased size of the placenta." [https://orcid.org/0000-0002-0736-9199]
synonym: "Large placenta" EXACT layperson []
synonym: "Placental enlargement" EXACT []
xref: SNOMEDCT_US:289263000
xref: UMLS:C0566693
is_a: HP:0012767 ! Abnormal placental size

[Term]
id: HP:0006268
name: Fluctuating splenomegaly
def: "Intermittently increased size of the spleen." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1835882
is_a: HP:0001744 ! Splenomegaly

[Term]
id: HP:0006270
name: Hypoplastic spleen
def: "Underdevelopment of the spleen." [https://orcid.org/0000-0002-0736-9199]
synonym: "Underdeveloped spleen" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1970617
is_a: HP:0010451 ! Aplasia/Hypoplasia of the spleen

[Term]
id: HP:0006273
name: Pancreatic lymphangiectasis
def: "The presence of lymphangiectasis in the pancreas." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1856162
is_a: HP:0012090 ! Abnormal pancreas morphology
is_a: HP:0031842 ! Lymphangiectasis

[Term]
id: HP:0006274
name: Reduced pancreatic beta cells
def: "Reduced number of beta cells in the pancreatic islets of Langerhans." [https://orcid.org/0000-0002-0736-9199]
comment: The beta cells are responsible for producing insulin and amylin.
xref: UMLS:C1856904
is_a: HP:0006476 ! Abnormality of the pancreatic islet cells

[Term]
id: HP:0006276
name: Hyperechogenic pancreas
xref: UMLS:C1857945
is_a: HP:0012090 ! Abnormal pancreas morphology

[Term]
id: HP:0006277
name: Pancreatic hyperplasia
def: "Hyperplasia of the pancreas." [https://orcid.org/0000-0002-0736-9199]
comment: Hyperplasia is defined in MPATH as an increase in cell numbers in comparison to normal as a consequence of increased cell proliferation. Hyperplasia is a non -neoplastic process.
xref: UMLS:C1851733
is_a: HP:0012094 ! Abnormal pancreas size

[Term]
id: HP:0006278
name: Ectopic pancreatic tissue
def: "The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal pancreas location" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:264304000
xref: UMLS:C0994638
is_a: HP:0012090 ! Abnormal pancreas morphology

[Term]
id: HP:0006279
name: Beta-cell dysfunction
xref: UMLS:C1969875
is_a: HP:0006476 ! Abnormality of the pancreatic islet cells

[Term]
id: HP:0006280
name: Chronic pancreatitis
def: "A chronic form of pancreatitis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Chronic pancreas inflammation" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:233870001
xref: SNOMEDCT_US:234689009
xref: SNOMEDCT_US:235494005
xref: UMLS:C0149521
is_a: HP:0001733 ! Pancreatitis

[Term]
id: HP:0006282
name: Generalized hypoplasia of dental enamel
def: "A generalized form of developmental hypoplasia of the dental enamel." [https://orcid.org/0000-0002-9338-3017]
synonym: "Generalised dysplasia of tooth enamel" RELATED uk_spelling []
synonym: "Generalised hypoplasia of dental enamel" EXACT uk_spelling []
synonym: "Generalised hypoplasia of tooth enamel" EXACT uk_spelling []
synonym: "Generalized dysplasia of tooth enamel" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Generalized hypoplasia of tooth enamel" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025070
xref: UMLS:C4280462
is_a: HP:0006297 ! Enamel hypoplasia

[Term]
id: HP:0006283
name: Multiple unerupted teeth
def: "The presence of multiple embedded tooth germs which have failed to erupt." [https://orcid.org/0000-0002-9338-3017]
synonym: "Failure of eruption of multiple teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Multiple non-erupting teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Multiple unerupted teeth" EXACT layperson []
xref: UMLS:C4025069
is_a: HP:0000706 ! Eruption failure

[Term]
id: HP:0006285
name: Enamel hypomineralization
alt_id: HP:0006359
def: "A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect." [https://orcid.org/0000-0002-0736-9199, PMID:31468724]
comment: Enamel hypomineralization can be caused by genetic or environmental factors. It may occur in both deciduous and permanent dentitions, although more often in the permanent dentition. It may concern a single tooth, several teeth, or the complete dentition and may affect part or the complete surface of the tooth. Enamel hypomineralization is a qualitative defect of enamel, in which the enamel can be rough and softer. Affected teeth may be sensitive. Enamel hypomineralization can be part of molar incisor hypomineralization (hypomineralisation of systemic origin of one to four permanent first molars, frequently associated with affected incisors) and of hypomineralized second primary molars (or deciduous molar hypomineralisation, which indicates idiopathic hypomineralization of one to four second deciduous molars).
synonym: "Decreased enamel mineralisation" EXACT []
synonym: "Fluorosis of tooth enamel" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypomineralization of enamel" EXACT []
synonym: "Increased porosity of tooth enamel" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Mottled tooth enamel" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Poorly mineralized tooth enamel" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "White spot lesions of tooth enamel" RELATED [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:109487003
xref: UMLS:C3665628
xref: UMLS:C4280253
xref: UMLS:C4280460
xref: UMLS:C4280461
is_a: HP:0000682 ! Abnormal dental enamel morphology

[Term]
id: HP:0006286
name: Yellow-brown discoloration of the teeth
synonym: "Yellow-brown discoloration of the teeth" EXACT layperson []
synonym: "Yellow-brown discolored teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Yellow-brown discoloured teeth" EXACT uk_spelling []
synonym: "Yellow-brown tooth shade" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1863008
is_a: HP:0011073 ! Abnormality of dental color

[Term]
id: HP:0006288
name: Advanced eruption of teeth
alt_id: HP:0006317
def: "Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age." [https://orcid.org/0000-0002-9338-3017, PMID:19125428]
comment: There are established norms for the timing of eruption in both deciduous and permanent teeth [Garn and Rohmann, [1966]; Lunt and Law, [1974]; McDonald et al. [2004]]. Eruption is defined by the appearance of a tooth that has pierced the gum.
synonym: "Advanced dental eruption" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Advanced tooth eruption" EXACT []
synonym: "Early dental eruption" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Early eruption of teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Eruption, advanced" EXACT []
synonym: "Premature dental eruption" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Premature eruption of teeth" EXACT []
synonym: "Premature tooth eruption" EXACT []
xref: SNOMEDCT_US:16000003
xref: UMLS:C0266054
is_a: HP:0006292 ! Abnormality of dental eruption

[Term]
id: HP:0006289
name: Agenesis of central incisor
alt_id: HP:0006320
def: "Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor." [https://orcid.org/0000-0002-9338-3017]
synonym: "Absent central incisor" EXACT layperson []
synonym: "Absent central incisors" RELATED layperson []
synonym: "Failure of development of central incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing central incisors" RELATED layperson []
xref: UMLS:C1855000
xref: UMLS:C4020819
is_a: HP:0006485 ! Agenesis of incisor

[Term]
id: HP:0006290
name: Discolored lateral incisors
def: "The presence of discolored lateral incisors." [https://orcid.org/0000-0002-9338-3017]
synonym: "Abnormality of color of front teeth" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of color of lateral incisor" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of colour of front teeth" BROAD uk_spelling []
synonym: "Abnormality of colour of lateral incisor" BROAD uk_spelling []
synonym: "Abnormality of shade of lateral incisor" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Discolored front teeth" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Discoloured front teeth" BROAD uk_spelling []
synonym: "Discoloured lateral incisors" EXACT uk_spelling []
xref: UMLS:C1866510
xref: UMLS:C4280459
is_a: HP:0011063 ! Abnormal incisor morphology

[Term]
id: HP:0006291
name: Marked delay in eruption of permanent teeth
synonym: "Severe delay of eruption of adult teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Severe delay of eruption of permanent teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Very late eruption of adult teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Very late eruption of permanent teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1863009
is_a: HP:0000696 ! Delayed eruption of permanent teeth

[Term]
id: HP:0006292
name: Abnormality of dental eruption
def: "An abnormality of tooth eruption." [https://orcid.org/0000-0002-9338-3017]
comment: The average ages for eruption of the primary teeth are: 6 months: lower central incisor, 7 months: upper central incisor, 8 months: upper lateral incisor, 9 months: lower lateral incisor, 12 months first molars, 18 months, canines, 2 years, second molars.
synonym: "Abnormal dental eruption" EXACT []
synonym: "Abnormality of tooth eruption" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Anomaly of dental eruption" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Anomaly of tooth eruption" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Disorder of dental eruption" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Disorder of tooth eruption" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Disturbance of dental eruption" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Disturbance of tooth eruption" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:1086101000119107
xref: SNOMEDCT_US:234949000
xref: UMLS:C0012767
xref: UMLS:C1859363
xref: UMLS:C3874458
is_a: HP:0000164 ! Abnormality of the dentition

[Term]
id: HP:0006293
name: Agenesis of maxillary central incisor
def: "Agenesis of upper secondary incisor or of upper central primary incisor." [https://orcid.org/0000-0002-9338-3017]
synonym: "Absence of maxillary central incisor" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of maxillary central incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing maxillary central incisor" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing upper central incisor" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025068
xref: UMLS:C4280458
is_a: HP:0006289 ! Agenesis of central incisor
is_a: HP:0200160 ! Agenesis of maxillary incisor

[Term]
id: HP:0006297
name: Enamel hypoplasia
alt_id: HP:0000671
alt_id: HP:0001565
alt_id: HP:0003770
def: "Developmental hypoplasia of the dental enamel." [https://orcid.org/0000-0002-9338-3017, PMID:18499550, PMID:31468724]
comment: Enamel hypoplasia can be caused by genetic or environmental factors. It may occur in both deciduous and permanent dentitions, although more often in the permanent dentition. Enamel hypoplasia may concern a single tooth, several teeth, or the complete dentition and may affect part or the complete surface of the tooth. Enamel hypoplasia regroups different clinical aspects: localized hypoplasia, generalized hypoplasia, enamel pits, enamel striae, and grooves defects. The term should be used to describe a quantitative defect of enamel. Enamel hypotrophy cannot be used as hypotrophy indicates loss of cells, whereas enamel is an acellular structure and thus not a tissue.
synonym: "Defective enamel matrix" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Dental enamel hypoplasia" EXACT []
synonym: "Dysplasia of tooth enamel" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Enamel dysplasia" RELATED []
synonym: "Enamel hypotrophy" EXACT []
synonym: "Enamel, underdeveloped" EXACT []
synonym: "Hypoplasia of dental enamel" EXACT []
synonym: "Hypoplasia of tooth enamel" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Thin dental enamel" BROAD layperson []
synonym: "Thin tooth enamel" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdeveloped teeth enamel" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:26597004
xref: SNOMEDCT_US:699382004
xref: SNOMEDCT_US:699421005
xref: UMLS:C0011351
xref: UMLS:C1851854
xref: UMLS:C4280456
xref: UMLS:C4280457
is_a: HP:0000682 ! Abnormal dental enamel morphology
is_a: HP:0000685 ! Hypoplasia of teeth

[Term]
id: HP:0006298
name: Prolonged bleeding after dental extraction
def: "Prolonged bleeding post dental extraction sufficient to require medical intervention." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-7744-1790]
synonym: "Prolonged bleeding after dental extraction" EXACT layperson []
xref: UMLS:C1969572
is_a: HP:0011890 ! Prolonged bleeding following procedure

[Term]
id: HP:0006302
name: Dagger-shaped pulp calcifications
def: "Dagger-shaped calcifications in the dental pulp." [https://orcid.org/0000-0002-9338-3017]
synonym: "Dagger shaped pulp denticles" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Dagger shaped pulp stones" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025067
is_a: HP:0003771 ! Pulp calcification

[Term]
id: HP:0006304
name: Widely-spaced incisors
synonym: "Anterior diastema of teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Diastema between front teeth" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Diastema between incisors" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Gap between front teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Widely spaced front teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:196409003
xref: UMLS:C0399545
is_a: HP:0000699 ! Diastema
is_a: HP:0040159 ! Abnormal spaced incisors

[Term]
id: HP:0006308
name: Atrophy of alveolar ridges
synonym: "Alveolar bone loss" RELATED []
synonym: "Atrophy of alveolar margins" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Atrophy of alveolar processes of jaw" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Flattening of alveolar margin" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Flattening of alveolar processes of jaw" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Flattening of alveolar ridges" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Flattening of gum ridges" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Resorption of alveolar margins" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Resorption of alveolar processes of jaw" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Resorption of alveolar ridges" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Shrinking of alveolar ridges" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Shrinking of gum ridges" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1855642
xref: UMLS:C4280454
xref: UMLS:C4280455
is_a: HP:0006477 ! Abnormal alveolar ridge morphology

[Term]
id: HP:0006311
name: Generalized microdontia
def: "A generalized form of microdontia." [https://orcid.org/0000-0002-9338-3017]
synonym: "Decreased size of all teeth" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased tooth mass" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased width of all teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Generalised microdontia" EXACT uk_spelling []
synonym: "Hypotrophy of all teeth" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Tooth mass insufficiency" BROAD [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025065
is_a: HP:0000691 ! Microdontia

[Term]
id: HP:0006313
name: Widely spaced primary teeth
def: "Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia." [https://orcid.org/0000-0002-9338-3017]
synonym: "Generalised spacing of primary teeth" EXACT uk_spelling []
synonym: "Generalized spacing of primary teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Wide gaps between baby teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Wide gaps between primary teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Widely spaced baby teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Widely spaced deciduous teeth" EXACT []
synonym: "Widely spaced milk teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4021603
is_a: HP:0000687 ! Widely spaced teeth
is_a: HP:0006481 ! Abnormality of primary teeth

[Term]
id: HP:0006315
name: Solitary median maxillary central incisor
alt_id: HP:0001568
alt_id: HP:0001573
alt_id: HP:0006356
def: "A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors." [PMID:19125428]
comment: The tooth differs from a normal central incisor in the symmetric formation of the crown. The tooth is present in both deciduous and permanent dentition. Solitary/single median maxillary central incisor syndrome indicates the presence of a single median maxillary central incisor together with other midline defects of development. A single maxillary central incisor not positioned in the midline indicates agenesis of the contralateral central incisor and can be differentiated furthermore by the morphology of the crown. A diagnosis of a solitary median maxillary central incisor typically requires X-ray examinations.
subset: hposlim_core
synonym: "Only one upper front tooth" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Single central incisor" EXACT []
synonym: "Single central upper incisor" EXACT []
synonym: "Single maxillary central incisor" EXACT []
synonym: "Single median incisor" EXACT []
synonym: "Single median maxillary incisor" EXACT []
synonym: "Single midline maxillary incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Single midline upper front tooth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Solitary median maxillary central incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Solitary median maxillary central incisor syndrome" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Solitary midline maxillary central incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:707609006
xref: UMLS:C1840235
is_a: HP:0011064 ! Abnormal number of incisors

[Term]
id: HP:0006316
name: Irregularly spaced teeth
alt_id: HP:0009081
def: "Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth." [https://orcid.org/0000-0002-9338-3017]
synonym: "Irregular dental spacing" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Irregularly spaced teeth" EXACT layperson []
synonym: "Variability of dental spacing" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Variability of spacing between teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1845878
is_a: HP:0000692 ! Tooth malposition

[Term]
id: HP:0006321
name: Multiple non-erupting secondary teeth
synonym: "Failure of eruption of multiple adult teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of eruption of multiple permanent teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Multiple non-erupting adult teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Multiple non-erupting permanent teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Multiple unerupted adult teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Multiple unerupted permanent teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1848904
is_a: HP:0000696 ! Delayed eruption of permanent teeth

[Term]
id: HP:0006323
name: Premature loss of primary teeth
alt_id: HP:0006319
alt_id: HP:0006351
def: "Loss of the primary (also known as deciduous) teeth before the usual age." [https://orcid.org/0009-0006-4530-3154]
comment: The primary teeth are usually shed and replaced by the permanent teeth, usually by the age of six years. With premature loss of primary teeth, there is a delay between the loss of the primary teeth and the eruption of the permanent teeth.
subset: hposlim_core
synonym: "Early loss of baby teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Early loss of deciduous teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Early loss of primary teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Premature deciduous tooth loss" EXACT []
synonym: "Premature exfoliation of deciduous teeth" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Premature exfoliation of primary teeth" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Premature loss of baby teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Premature loss of deciduous teeth" EXACT []
xref: SNOMEDCT_US:122483006
xref: SNOMEDCT_US:39034005
xref: UMLS:C0266052
is_a: HP:0006480 ! Premature loss of teeth
is_a: HP:0006481 ! Abnormality of primary teeth

[Term]
id: HP:0006326
name: Buried teeth encased in mucopolysaccharide
synonym: "Failure of dental eruption due to mucopolysaccharidoses" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of tooth eruption due to mucopolysaccharidoses" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Impacted teeth due to mucopolysaccharidoses" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Unerupted dentition due to mucopolysaccharidoses" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Unerupted teeth due to mucopolysaccharidoses" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025064
is_a: HP:0000164 ! Abnormality of the dentition

[Term]
id: HP:0006329
name: Alveolar process hypoplasia
alt_id: HP:0006312
def: "Underdevelopment of the alveolar process (also known as alveolar bone)." [https://orcid.org/0000-0002-0736-9199]
comment: The alveolar process is a thickened ridge of bone that contains the tooth sockets on the mandible and maxilla.
synonym: "Decreased size of alveolar process of jaw" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of alveolar ridge" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Deficiency of alveolar process of jaw" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Deficiency of alveolar ridge" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplasia of alveolar ridge" EXACT []
synonym: "Hypoplastic alveolar bone" EXACT []
synonym: "Hypotrophic alveolar process of jaw" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypotrophic alveolar ridge" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Small alveolar process of jaw" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Small alveolar ridge" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of alveolar process of jaw" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of alveolar ridge" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:708494003
xref: UMLS:C1848905
xref: UMLS:C3872671
xref: UMLS:C4280451
xref: UMLS:C4280452
xref: UMLS:C4280453
is_a: HP:0006477 ! Abnormal alveolar ridge morphology

[Term]
id: HP:0006330
name: Rotated maxillary central incisors
synonym: "Rotated upper central incisors" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Rotated upper front teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Turned upper front teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Twisted upper front teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025063
is_a: HP:0011062 ! Misalignment of incisors

[Term]
id: HP:0006332
name: Supernumerary maxillary incisor
def: "The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor." [https://orcid.org/0000-0002-9338-3017]
synonym: "Extra upper front tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025062
is_a: HP:0011064 ! Abnormal number of incisors
is_a: HP:0011069 ! Supernumerary tooth

[Term]
id: HP:0006333
name: Crowded maxillary incisors
def: "A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor." [https://orcid.org/0000-0002-9338-3017]
synonym: "Crowded upper front teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Crowded upper incisors" EXACT layperson []
synonym: "Overlapped maxillary incisors" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Overlapped upper front teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4021602
is_a: HP:0011062 ! Misalignment of incisors

[Term]
id: HP:0006334
name: Hypoplasia of the primary teeth
alt_id: HP:0006318
def: "Developmental hypoplasia of the primary teeth." [https://orcid.org/0000-0002-9338-3017]
synonym: "Decreased size of baby teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of deciduous teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of milk teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of primary teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplastic deciduous teeth" EXACT []
synonym: "Small baby teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Small milk teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Small primary teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of baby teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of milk teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of primary teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1855694
is_a: HP:0000685 ! Hypoplasia of teeth
is_a: HP:0006481 ! Abnormality of primary teeth

[Term]
id: HP:0006335
name: Persistence of primary teeth
alt_id: HP:0003772
alt_id: HP:0006299
alt_id: HP:0006305
alt_id: HP:0006341
alt_id: HP:0006354
def: "Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth." [https://orcid.org/0000-0002-9338-3017]
comment: The primary teeth are usually shed and replaced by the permanent teeth, usually by the age of six years. Persistence of primary teeth may be related to agenesis of the permanent teeth. Molar primary teeth may be persistent because of the agenesis of the premolars.
synonym: "Deciduous teeth retention" EXACT []
synonym: "Delayed loss of baby teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Delayed loss of deciduous teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Delayed loss of primary teeth" EXACT []
synonym: "Failure to exfoliate deciduous teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure to exfoliate primary teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure to lose baby teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Persistence of deciduous teeth" EXACT []
synonym: "Persistent deciduous dentition" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Persistent primary dentition" EXACT []
synonym: "Persistent primary teeth" EXACT []
synonym: "Retained baby teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Retained deciduous teeth" EXACT []
synonym: "Retained primary teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:57650002
xref: UMLS:C0266050
is_a: HP:0006292 ! Abnormality of dental eruption
is_a: HP:0006481 ! Abnormality of primary teeth

[Term]
id: HP:0006336
name: Short dental root
def: "Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length." [https://orcid.org/0000-0002-0736-9199, PMID:31468724]
synonym: "Decreased length of dental roots" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased length of tooth roots" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Dental root hypoplasia" EXACT []
synonym: "Dental root hypotrophy" EXACT []
synonym: "Rhizomicry" EXACT []
synonym: "Root dwarfism" EXACT []
synonym: "Short dental roots" EXACT layperson []
synonym: "Short tooth roots" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdeveloped dental roots" EXACT layperson []
synonym: "Underdeveloped tooth roots" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C2678330
is_a: HP:0040220 ! Abnormal size of the dental root

[Term]
id: HP:0006337
name: Premature eruption of permanent teeth
def: "Premature tooth eruption of the permanent dentition." [https://orcid.org/0000-0002-9338-3017]
subset: hposlim_core
synonym: "Early eruption of adult teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Early eruption of permanent teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Precocious eruption of secondary dentition" EXACT []
synonym: "Precocious eruption of secondary teeth" EXACT []
synonym: "Premature eruption of adult teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4021601
is_a: HP:0006288 ! Advanced eruption of teeth

[Term]
id: HP:0006338
name: Malformation of mandibular premolar
def: "An abnormality of the morphology of secondary premolar tooth." [https://orcid.org/0000-0002-9338-3017]
synonym: "Malformation of lower premolar" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of mandibular bicuspid" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025061
is_a: HP:0011080 ! Abnormal premolar morphology

[Term]
id: HP:0006339
name: Conical mandibular incisor
def: "An abnormal conical morphology of the primary or permanent mandibular incisors." [https://orcid.org/0000-0002-9338-3017]
synonym: "Cone shaped lower front tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Conoid mandibular incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Lower front shark tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Peg shaped lower front tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Peg shaped mandibular incisor" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Pointed mandibular incisor" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Pointed mandibular incisors" RELATED []
xref: UMLS:C4020818
xref: UMLS:C4280449
xref: UMLS:C4280450
is_a: HP:0011065 ! Conical incisor

[Term]
id: HP:0006342
name: Peg-shaped maxillary lateral incisors
def: "A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter" [https://orcid.org/0000-0002-9338-3017, PMID:31468724]
comment: A peg shape appearance of a tooth occurs in lateral incisors only. A peg-shaped tooth is a microdont tooth and may occur isolated or associated with other dental anomalies, such as hypodontia and oligodontia; this should be assessed and coded separately.
synonym: "Cone shaped upper lateral incisors" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Conical maxillary lateral incisors" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Conoid upper lateral incisors" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Peg laterals" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Peg shaped upper lateral incisors" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Pointed upper lateral incisors" RELATED [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025060
is_a: HP:0011065 ! Conical incisor

[Term]
id: HP:0006344
name: Abnormal primary molar morphology
def: "An abnormality of morphology of primary molar." [https://orcid.org/0000-0002-9338-3017]
synonym: "Abnormality of deciduous molar morphology" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of primary molar morphology" EXACT []
synonym: "Abnormality of shape of baby molar" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of shape of primary molar" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025059
is_a: HP:0006481 ! Abnormality of primary teeth
is_a: HP:0011070 ! Abnormal molar morphology

[Term]
id: HP:0006346
name: Screwdriver-shaped incisors
def: "An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape." [https://orcid.org/0000-0002-9338-3017]
synonym: "Screwdriver shaped front teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Screwdriver-shaped incisors" EXACT layperson []
xref: UMLS:C4025058
is_a: HP:0011063 ! Abnormal incisor morphology

[Term]
id: HP:0006347
name: Microdontia of primary teeth
def: "Decreased size of the primary teeth." [https://orcid.org/0000-0002-9338-3017]
synonym: "Decreased size of primary tooth" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased width of baby teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased width of deciduous teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased width of milk teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased width of primary tooth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Microdontia of deciduous teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Small deciduous teeth" EXACT []
xref: UMLS:C1855694
xref: UMLS:C1856203
is_a: HP:0000691 ! Microdontia
is_a: HP:0006481 ! Abnormality of primary teeth

[Term]
id: HP:0006349
name: Agenesis of permanent teeth
alt_id: HP:0000681
alt_id: HP:0006287
alt_id: HP:0008498
def: "A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absence of adult teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Absence of permanent teeth" EXACT layperson []
synonym: "Absence of secondary dentition" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Absent permanent teeth" EXACT []
synonym: "Agenesis of permanent dentition" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Agenesis of secondary dentition" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of permanent teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of secondary teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing permanent teeth" EXACT layperson []
synonym: "No permanent dentition" EXACT []
xref: SNOMEDCT_US:109444001
xref: SNOMEDCT_US:234948008
xref: UMLS:C0457756
xref: UMLS:C1290511
is_a: HP:0009804 ! Tooth agenesis
is_a: HP:0011044 ! Abnormal number of permanent teeth

[Term]
id: HP:0006350
name: Pulp obliteration
def: "Mineralized substance filling the entire dental pulp space." [PMID:162890, PMID:31468724]
comment: The diagnosis pulp obliteration can be established using radiological studies. Gradual obliteration of the pulp is a physiologic process that occurs with aging. On radiographs the contours of the pulp disappear in part or totally, but histologically pulpal tissue remains present.
synonym: "Crescent/chevron-shaped pulp chambers" RELATED []
synonym: "Narrowing of pulp chamber of tooth" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Obliteration of the pulp chamber" EXACT []
synonym: "Pulp canal obliteration" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Reduced size of pulp chamber of tooth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Small pulp chamber of tooth" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4020817
xref: UMLS:C4025057
xref: UMLS:C4280448
is_a: HP:0006479 ! Abnormal dental pulp morphology

[Term]
id: HP:0006352
name: Failure of eruption of permanent teeth
alt_id: HP:0006309
def: "Lack of tooth eruption of the secondary dentition." [https://orcid.org/0000-0002-9338-3017]
synonym: "Failure of eruption of adult teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Unerupted adult dentition" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Unerupted adult teeth" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Unerupted permanent dentition" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Unerupted permanent teeth" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025056
xref: UMLS:C4280447
is_a: HP:0000706 ! Eruption failure

[Term]
id: HP:0006353
name: Hypoplasia of the tooth germ
def: "Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth." [https://orcid.org/0000-0002-9338-3017]
synonym: "Decreased size of tooth bud" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of tooth germ" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplastic tooth buds" RELATED []
synonym: "Hypotrophic tooth germ" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Small tooth bud" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Small tooth germ" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of tooth bud" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of tooth germ" BROAD [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025055
is_a: HP:0000685 ! Hypoplasia of teeth

[Term]
id: HP:0006355
name: Agenesis of mandibular central incisor
def: "Agenesis of lower secondary incisor or lower primary incisor." [https://orcid.org/0000-0002-9338-3017]
synonym: "Absence of lower central incisor" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Absence of mandibular central incisor" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of mandibular central incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing lower central incisor" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing mandibular central incisor" RELATED [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1840225
xref: UMLS:C4025054
is_a: HP:0006289 ! Agenesis of central incisor
is_a: HP:0200161 ! Agenesis of mandibular incisor

[Term]
id: HP:0006357
name: Premature loss of permanent teeth
def: "Premature loss of the permanent teeth." [https://orcid.org/0000-0002-9338-3017]
synonym: "Early loss of adult teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Early loss of permanent teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Early loss of secondary dentition" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Premature loss of adult teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Premature loss of secondary teeth" EXACT []
xref: UMLS:C1969738
is_a: HP:0006480 ! Premature loss of teeth

[Term]
id: HP:0006358
name: Shovel-shaped maxillary central incisors
def: "A tooth with a crown with marked lingual or palatal marginal ridges causing scooped lingual or palatal surfaces." [PMID:2212205, PMID:31468724]
synonym: "Shovel tooth" EXACT []
synonym: "Shovel-shaped upper front teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1833168
is_a: HP:0011063 ! Abnormal incisor morphology

[Term]
id: HP:0006361
name: Irregular femoral epiphysis
synonym: "Irregular thighbone end part" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1850658
is_a: HP:0006499 ! Abnormal femoral epiphysis morphology
is_a: HP:0010582 ! Irregular epiphyses

[Term]
id: HP:0006362
name: Varus deformity of humeral neck
xref: UMLS:C1854948
is_a: HP:0003887 ! Abnormal humeral head morphology

[Term]
id: HP:0006366
name: Adductor longus contractures
xref: UMLS:C1859524
is_a: HP:0005750 ! Lower-limb joint contracture

[Term]
id: HP:0006367
name: Crumpled long bones
def: "An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta." [https://orcid.org/0000-0002-0736-9199]
synonym: "Crumpled long bones" EXACT layperson []
xref: UMLS:C1970497
is_a: HP:0011314 ! Abnormal long bone morphology

[Term]
id: HP:0006368
name: Forearm reduction defects
xref: UMLS:C1849327
is_a: HP:0002973 ! Abnormal forearm morphology

[Term]
id: HP:0006369
name: Irregular patellae
alt_id: HP:0006458
def: "An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular patellar contour" EXACT []
synonym: "Irregular patellar margins" EXACT []
xref: UMLS:C1836870
is_a: HP:0003045 ! Abnormal patella morphology

[Term]
id: HP:0006370
name: Distal ulnar epiphyseal stippling
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna." [https://orcid.org/0000-0002-0736-9199]
synonym: "Distal ulnar epiphyseal calcifications" EXACT []
xref: UMLS:C4021600
is_a: HP:0010600 ! Abnormal distal ulnar epiphysis morphology
is_a: HP:0010655 ! Epiphyseal stippling

[Term]
id: HP:0006371
name: Broad long bone diaphyses
def: "Increased width of the diaphysis of long bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad shaft of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Wide shaft of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025053
is_a: HP:0000940 ! Abnormal diaphysis morphology

[Term]
id: HP:0006375
name: Dumbbell-shaped femur
def: "The femur is shortened and displays flaring (widening) of the metaphyses." [https://orcid.org/0000-0002-0736-9199]
synonym: "Dumbbell-shaped thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025052
is_a: HP:0000947 ! Dumbbell-shaped long bone
is_a: HP:0002823 ! Abnormal femur morphology

[Term]
id: HP:0006376
name: Limited elbow flexion
xref: UMLS:C1856922
is_a: HP:0002996 ! Limited elbow movement

[Term]
id: HP:0006378
name: Osteolysis of patellae
xref: UMLS:C4025051
is_a: HP:0003045 ! Abnormal patella morphology
is_a: HP:0009139 ! Osteolysis involving bones of the lower limbs

[Term]
id: HP:0006379
name: Proximal tibial hypoplasia
comment: Removed logical definition that used anonymous class. Requested new term from UBERON: 'proximal tibia'
synonym: "Proximal tibial hypopolasia" EXACT []
xref: UMLS:C1856029
is_a: HP:0005736 ! Short tibia

[Term]
id: HP:0006380
name: Knee flexion contracture
alt_id: HP:0002978
def: "A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively." [https://orcid.org/0000-0002-0736-9199, PMID:31282072]
subset: hposlim_core
synonym: "Flexion contracture of knees" EXACT []
synonym: "Flexion contractures at both knees" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Flexion contractures of knees" EXACT []
synonym: "Flexion deformity of the knee" EXACT []
synonym: "Inability to straighten knee" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Knee flexion contractures" EXACT []
synonym: "Knee flexion deformity" EXACT []
xref: SNOMEDCT_US:202289003
xref: UMLS:C0409355
is_a: HP:0005750 ! Lower-limb joint contracture
is_a: HP:0034671 ! Knee contracture

[Term]
id: HP:0006381
name: Rudimentary fibula
alt_id: HP:0004986
def: "Absent or nearly absent fibula. (Does not include aplastic)" []
synonym: "Rudimentary to absent fibulae" EXACT []
synonym: "Small to absent calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Small to absent fibula" EXACT []
xref: UMLS:C1844706
is_a: HP:0003038 ! Fibular hypoplasia

[Term]
id: HP:0006383
name: Progressive bowing of long bones
def: "Progressive bending or abnormal curvature of a long bone." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1857137
is_a: HP:0006487 ! Bowing of the long bones

[Term]
id: HP:0006384
name: Club-shaped distal femur
alt_id: HP:0006447
def: "An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis." [https://orcid.org/0000-0002-0736-9199]
comment: previous def: 'has part' some (clavate and ('inheres in' some 'Distal end of femur (adult human)') and ('has modifier' some abnormal))
synonym: "Club-shaped distal femora" EXACT []
synonym: "Club-shaped outermost end of thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1857505
is_a: HP:0002823 ! Abnormal femur morphology

[Term]
id: HP:0006385
name: Short lower limbs
alt_id: HP:0003054
def: "Shortening of the legs related to developmental hypoplasia of the bones of the leg." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Short legs" EXACT layperson []
synonym: "Short lower limbs" EXACT layperson []
xref: SNOMEDCT_US:249786007
xref: UMLS:C0426901
is_a: HP:0009816 ! Lower limb undergrowth

[Term]
id: HP:0006386
name: Hypoplastic distal radial epiphyses
def: "Underdevelopment of the distal epiphysis of the radius." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1969286
is_a: HP:0010597 ! Abnormality of the distal radial epiphysis

[Term]
id: HP:0006387
name: Wide distal femoral metaphysis
def: "Increased width of the distal part of the shaft (metaphysis) of the femur." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad outermost wide portion of thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Wide distal metaphysis of femur" EXACT []
xref: UMLS:C1849309
is_a: HP:0006417 ! Wide femoral metaphysis
is_a: HP:0030299 ! Abnormal distal femoral metaphysis morphology

[Term]
id: HP:0006389
name: Limited knee flexion
def: "Reduced ability to flex (bend) the knee joint." []
xref: UMLS:C1839512
is_a: HP:0010501 ! Limitation of knee mobility

[Term]
id: HP:0006390
name: Anterior tibial bowing
def: "An abnormal anterior bending or curvature of the tibia." [https://orcid.org/0000-0002-0736-9199, PMID:37026038]
synonym: "Anterior bowing of tibia" EXACT []
synonym: "Saber shin" EXACT []
synonym: "Saber tibia" EXACT []
synonym: "Sabre shin" EXACT []
xref: UMLS:C1861937
is_a: HP:0002982 ! Tibial bowing

[Term]
id: HP:0006391
name: Overtubulated long bones
def: "Overconstriction, or narrowness of the diaphysis and metaphysis of long bones." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1848769
is_a: HP:0011314 ! Abnormal long bone morphology

[Term]
id: HP:0006392
name: Increased density of long bones
def: "An abnormal increase in the bone density of the long bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased density of long bones" EXACT layperson []
xref: UMLS:C1849307
is_a: HP:0011001 ! Increased bone mineral density
is_a: HP:0011314 ! Abnormal long bone morphology

[Term]
id: HP:0006394
name: Limited pronation/supination of forearm
def: "A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation)." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Limited pronation/supination of forearm" EXACT layperson []
xref: UMLS:C1861331
is_a: HP:0002996 ! Limited elbow movement

[Term]
id: HP:0006397
name: Lateral displacement of patellae
xref: UMLS:C1860156
is_a: HP:0003045 ! Abnormal patella morphology

[Term]
id: HP:0006398
name: Flat distal femoral epiphysis
def: "An abnormal flattening of the distal epiphysis of femur." [https://orcid.org/0009-0006-4530-3154]
synonym: "Flat end part of outermost thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Flattened distal femoral epiphyses" EXACT []
xref: UMLS:C4021599
is_a: HP:0010590 ! Abnormality of the distal femoral epiphysis
is_a: HP:0030289 ! Flattened femoral epiphysis

[Term]
id: HP:0006400
name: Absent knee epiphyses
synonym: "Absent knee end part" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1859462
is_a: HP:0010577 ! Absent epiphyses
is_a: HP:0034669 ! Abnormal knee morphology

[Term]
id: HP:0006402
name: Distal shortening of limbs
synonym: "Short outer part of limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1840307
is_a: HP:0009826 ! Limb undergrowth

[Term]
id: HP:0006406
name: Club-shaped proximal femur
def: "An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis." [https://orcid.org/0000-0002-0736-9199]
comment: previous def: 'has part' some (clavate and ('inheres in' some 'Proximal end of femur (adult human)') and ('has modifier' some abnormal))
synonym: "Club-shaped innermost end of thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1968611
is_a: HP:0002823 ! Abnormal femur morphology

[Term]
id: HP:0006407
name: Irregular distal femoral epiphysis
def: "Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular outermost thighbone end part" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025050
is_a: HP:0006361 ! Irregular femoral epiphysis
is_a: HP:0010590 ! Abnormality of the distal femoral epiphysis

[Term]
id: HP:0006408
name: Distal tapering femur
synonym: "Tapering of outermost end of thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025049
is_a: HP:0002823 ! Abnormal femur morphology

[Term]
id: HP:0006409
name: Progressive leg bowing
def: "Progressive bending or abnormal curvature of the leg." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1855191
is_a: HP:0006383 ! Progressive bowing of long bones

[Term]
id: HP:0006413
name: Broad tibial metaphyses
synonym: "Broad wide portion of shankbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Broad wide portion of shinbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C2678328
is_a: HP:0006491 ! Abnormal tibial metaphysis morphology

[Term]
id: HP:0006414
name: Distal tibial bowing
def: "A bending or abnormal curvature of the distal portion of the tibia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bowing of the distal tibia" EXACT []
synonym: "Tibial bowing at ankle" EXACT []
xref: UMLS:C4021598
is_a: HP:0002982 ! Tibial bowing
is_a: HP:0034673 ! Abnormal ankle morphology

[Term]
id: HP:0006415
name: Cortically dense long tubular bones
def: "Increased density of the compact bone of long bone." [https://orcid.org/0000-0002-0736-9199]
comment: Note that compact bone and cortical bone are synonymous.
xref: UMLS:C1849276
is_a: HP:0000935 ! Thickened cortex of long bones

[Term]
id: HP:0006417
name: Wide femoral metaphysis
synonym: "Broad femoral metaphyses" EXACT plural_form []
synonym: "Broad femoral metaphysis" EXACT []
synonym: "Broad wide portion of thigh bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1864854
is_a: HP:0006489 ! Abnormal femoral metaphysis morphology

[Term]
id: HP:0006420
name: Asymmetric radial dysplasia
def: "The presence of asymmetric developmental dysplasia of the radius." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1969396
is_a: HP:0006433 ! Radial dysplasia

[Term]
id: HP:0006423
name: Peg-like central prominence of distal tibial metaphyses
xref: UMLS:C1846160
is_a: HP:0006491 ! Abnormal tibial metaphysis morphology

[Term]
id: HP:0006424
name: Elongated radius
def: "Increased length of the radius." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025048
is_a: HP:0002818 ! Abnormal morphology of the radius

[Term]
id: HP:0006426
name: Rudimentary to absent tibiae
xref: UMLS:C1968943
is_a: HP:0005772 ! Aplasia/Hypoplasia of the tibia

[Term]
id: HP:0006429
name: Broad femoral neck
alt_id: HP:0003369
alt_id: HP:0003372
alt_id: HP:0008781
alt_id: HP:0008782
alt_id: HP:0008836
def: "An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broadening of femoral neck" EXACT []
synonym: "Wide femoral neck" EXACT []
synonym: "Wide neck of thigh bone" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Widened femoral necks" EXACT []
xref: UMLS:C1849016
is_a: HP:0003367 ! Abnormal femoral neck morphology

[Term]
id: HP:0006431
name: Abnormal proximal femoral metaphysis morphology
def: "An anomaly of the metaphysis of the proximal femur (close to the hip)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal wide portion of innermost thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Proximal femoral metaphyseal abnormality" EXACT []
xref: UMLS:C4025047
is_a: HP:0006489 ! Abnormal femoral metaphysis morphology

[Term]
id: HP:0006432
name: Trapezoidal distal femoral condyles
xref: UMLS:C1843983
is_a: HP:0002823 ! Abnormal femur morphology

[Term]
id: HP:0006433
name: Radial dysplasia
def: "Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia." [PMID:29257019]
synonym: "Dysplastic radii" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Radial longitudinal deficiency" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025046
is_a: HP:0002818 ! Abnormal morphology of the radius
is_a: HP:0003330 ! Abnormal bone structure

[Term]
id: HP:0006434
name: Hypoplasia of proximal radius
alt_id: HP:0006365
def: "Proximal radial shortening owing to a congenital defect of development." [https://orcid.org/0000-0002-0736-9199]
synonym: "Proximal radial shortening" EXACT []
xref: UMLS:C1859477
is_a: HP:0002984 ! Hypoplasia of the radius

[Term]
id: HP:0006436
name: obsolete Shortening of the tibia
is_obsolete: true
replaced_by: HP:0005736

[Term]
id: HP:0006437
name: Disproportionate prominence of the femoral medial condyle
xref: UMLS:C1834392
is_a: HP:0002823 ! Abnormal femur morphology

[Term]
id: HP:0006438
name: Enlargement of the distal femoral epiphysis
def: "An abnormal enlargement of the distal epiphysis of the femur." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlargement of the outermost thighbone end part" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Large distal femoral epiphyses" EXACT []
xref: UMLS:C1843105
is_a: HP:0010590 ! Abnormality of the distal femoral epiphysis

[Term]
id: HP:0006439
name: Radioulnar dislocation
alt_id: HP:0003972
def: "A dislocation is a separation of the radius and ulna bones where they normally meet. The radioulnar joints are two locations, proximal and distal, in which the radius and ulna articulate in the forearm. Both can dislocate." []
comment: This term refers to any kind of radioulnar joint dislocation (proximal, distal, both, or unknown).
synonym: "Dislocated radioulnar joints" EXACT []
xref: UMLS:C2673394
is_a: HP:0003059 ! Abnormality of the radioulnar joints

[Term]
id: HP:0006440
name: Increased density of long bone diaphyses
synonym: "Increased density of shaft of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1844516
is_a: HP:0000940 ! Abnormal diaphysis morphology
is_a: HP:0006392 ! Increased density of long bones

[Term]
id: HP:0006441
name: Lateral humeral condyle aplasia
xref: UMLS:C1833878
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0006442
name: Hypoplasia of proximal fibula
def: "Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee." [PMID:880750]
synonym: "Small innermost upper end of calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Underdeveloped innermost upper end of calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1859478
is_a: HP:0003038 ! Fibular hypoplasia

[Term]
id: HP:0006443
name: Patellar aplasia
alt_id: HP:0003046
alt_id: HP:0006475
def: "Absence of the patella." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Absent kneecap" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Absent patella" EXACT []
synonym: "Absent patellae" EXACT []
synonym: "Absent patellas" EXACT []
synonym: "Aplastic patellae" EXACT []
xref: UMLS:C1868578
is_a: HP:0006498 ! Aplasia/Hypoplasia of the patella

[Term]
id: HP:0006446
name: Dysplastic patella
xref: UMLS:C1849580
is_a: HP:0003045 ! Abnormal patella morphology
is_a: HP:0003330 ! Abnormal bone structure

[Term]
id: HP:0006449
name: Distal radial epiphyseal osteolysis
xref: UMLS:C1850145
is_a: HP:0010597 ! Abnormality of the distal radial epiphysis

[Term]
id: HP:0006450
name: Multicentric ossification of proximal femoral epiphyses
xref: UMLS:C1857193
is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck
is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head

[Term]
id: HP:0006453
name: Lateral displacement of the femoral head
def: "A developmental anomaly with lateral displacement of the femoral head." [https://orcid.org/0000-0002-0736-9199]
synonym: "Laterally displaced femoral heads" EXACT []
xref: UMLS:C1855758
is_a: HP:0003368 ! Abnormal femoral head morphology

[Term]
id: HP:0006454
name: Delayed patellar ossification
def: "Formation of bone in the patella later than normal." [https://orcid.org/0000-0002-0736-9199, PMID:6729496]
comment: The patella initially ossifies at between three and five years, commencing as multiple foci that rapidly coalesce. As the patellar ossification center enlarges the expanding margins may be irregular and associated with accessory ossification centers. These are most common superolaterally and may lead to the development of a bipartite patella. The bipartite patella has cartilaginous continuity despite the appearance of osseous discontinuity. The patella expands to all cartilaginous contours during late adolescence when the epiphyseal ossification centers around the knee are also in the final stages of maturation. The only cartilage not replaced is that occupying the superior two-thirds of the articular surface (the lower one-third is covered by the fat pad). The subchondral plate does not assume the actual articular contours until the late stages of osseous maturation (after ten to twelve years). Accordingly, typical measurements such as medial and lateral angulation cannot be accurately done prior to the final stages of patellar ossification expansion and maturation (PMID:6729496).
synonym: "Delayed bone maturation of the knee cap" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Delayed patellae ossification" EXACT []
xref: UMLS:C4021597
xref: UMLS:C4280446
is_a: HP:0003045 ! Abnormal patella morphology
is_a: HP:0003336 ! Abnormal enchondral ossification

[Term]
id: HP:0006456
name: Irregular proximal tibial epiphyses
def: "Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular innermost shankbone end part" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Irregular innermost shinbone end part" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025045
is_a: HP:0010582 ! Irregular epiphyses
is_a: HP:0010591 ! Abnormality of the proximal tibial epiphysis

[Term]
id: HP:0006459
name: Dorsal subluxation of ulna
def: "Partial dislocation of the ulna in the dorsal direction." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1851988
is_a: HP:0040071 ! Abnormal morphology of ulna

[Term]
id: HP:0006460
name: Increased laxity of ankles
xref: UMLS:C1850854
is_a: HP:0034674 ! Abnormal ankle physiology

[Term]
id: HP:0006461
name: Proximal femoral epiphysiolysis
alt_id: HP:0003000
def: "Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt." [https://orcid.org/0000-0002-0736-9199]
synonym: "Slipped capital femoral epiphyses" EXACT []
synonym: "Slipped capital femoral epiphysis" EXACT []
synonym: "Slipped end part of innermost thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C0149887
is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head

[Term]
id: HP:0006462
name: Generalized bone demineralization
def: "A generalized decrease in bone mineral density." [https://orcid.org/0000-0002-0736-9199]
comment: The terms Osteopenia or Osteoporosis should be preferred to this term, which may be obsoleted in the future.
synonym: "Generalised bone demineralization" EXACT uk_spelling []
xref: UMLS:C1833326
is_a: HP:0004349 ! Reduced bone mineral density

[Term]
id: HP:0006463
name: Rickets of the lower limbs
xref: UMLS:C1833323
is_a: HP:0002748 ! Rickets
is_a: HP:0002814 ! Abnormality of the lower limb

[Term]
id: HP:0006465
name: Periosteal thickening of long tubular bones
def: "Thickening of the periosteum of long bone." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1834345
is_a: HP:0011314 ! Abnormal long bone morphology
is_a: HP:0030313 ! Abnormal periosteum morphology

[Term]
id: HP:0006466
name: Ankle flexion contracture
alt_id: HP:0004985
alt_id: HP:0006403
xref: UMLS:C1837407
is_a: HP:0034677 ! Ankle contracture

[Term]
id: HP:0006467
name: Limited shoulder movement
def: "A limitation of the range of movement of the shoulder joint." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Limited shoulder movement" EXACT layperson []
xref: UMLS:C1851313
is_a: HP:0001376 ! Limitation of joint mobility
is_a: HP:0033129 ! Abnormal shoulder physiology

[Term]
id: HP:0006470
name: Thin long bone diaphyses
def: "Decreased width of the diaphysis of long bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Thin diaphyses of long bones" EXACT []
synonym: "Thin shaft of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1859449
is_a: HP:0000940 ! Abnormal diaphysis morphology

[Term]
id: HP:0006471
name: Fixed elbow flexion
xref: UMLS:C4025044
is_a: HP:0006376 ! Limited elbow flexion

[Term]
id: HP:0006473
name: Anterior bowing of long bones
def: "An abnormal anterior curvature of a long bone." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1850644
is_a: HP:0006487 ! Bowing of the long bones

[Term]
id: HP:0006476
name: Abnormality of the pancreatic islet cells
alt_id: HP:0100567
def: "An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025043
is_a: HP:0012093 ! Abnormality of endocrine pancreas physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T04:41:00Z

[Term]
id: HP:0006477
name: Abnormal alveolar ridge morphology
def: "Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of alveolar margin" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of alveolar processes of jaw" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of dentoalveolar ridges" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of gum ridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the alveolar ridges" BROAD []
synonym: "Defect in alveolar ridge" EXACT []
xref: SNOMEDCT_US:235013007
xref: UMLS:C0341007
xref: UMLS:C4280445
is_a: HP:0000163 ! Abnormal oral cavity morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T04:44:00Z

[Term]
id: HP:0006479
name: Abnormal dental pulp morphology
def: "An abnormality of the dental pulp." [https://orcid.org/0000-0002-9338-3017]
synonym: "Abnormality of the dental pulp" EXACT []
synonym: "Abnormality of tooth pulp" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Endodontic abnormality" RELATED [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025042
is_a: HP:0011061 ! Abnormality of dental structure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T04:46:00Z

[Term]
id: HP:0006480
name: Premature loss of teeth
alt_id: HP:0000701
alt_id: HP:0001564
alt_id: HP:0006343
def: "Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal." [https://orcid.org/0000-0002-9338-3017, PMID:31468724]
subset: hposlim_core
synonym: "Early tooth loss" EXACT layperson []
synonym: "Loss of teeth" EXACT layperson []
synonym: "Premature exfoliation of teeth" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Premature teeth loss" EXACT layperson []
synonym: "Premature tooth loss" EXACT layperson []
xref: SNOMEDCT_US:234974002
xref: SNOMEDCT_US:42756003
xref: UMLS:C0232513
xref: UMLS:C0399385
is_a: HP:0000164 ! Abnormality of the dentition
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T05:03:00Z

[Term]
id: HP:0006481
name: Abnormality of primary teeth
def: "Any abnormality of the primary tooth." [https://orcid.org/0000-0002-9338-3017]
comment: Primary teeth are also called temporary teeth or deciduous teeth.
synonym: "Abnormality of baby teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of deciduous teeth" EXACT []
synonym: "Abnormality of milk teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4021596
is_a: HP:0000164 ! Abnormality of the dentition
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T05:40:00Z

[Term]
id: HP:0006482
name: Abnormal dental morphology
alt_id: HP:0000697
def: "An abnormality of the morphology of the tooth." [https://orcid.org/0000-0002-9338-3017]
subset: hposlim_core
synonym: "Abnormality of dental morphology" EXACT []
synonym: "Abnormality of dental shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of shape of tooth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormally shaped teeth" EXACT layperson []
synonym: "Deformity of teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Dental deformity" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Dental malformations" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformed teeth" EXACT layperson []
synonym: "Misshapen teeth" EXACT layperson []
synonym: "Misshapened teeth" EXACT layperson []
xref: SNOMEDCT_US:422775003
xref: UMLS:C0040427
xref: UMLS:C0262444
is_a: HP:0000164 ! Abnormality of the dentition
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T05:41:00Z

[Term]
id: HP:0006483
name: Abnormal number of teeth
def: "The presence of an altered number of of teeth." [https://orcid.org/0000-0002-9338-3017]
comment: Humans usually have 20 primary teeth (also called deciduous teeth) and 32 permanent teeth. This term comprises anomalies with too many or too few teeth.
synonym: "Abnormal complement of teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormal number of teeth" EXACT layperson []
synonym: "Abnormal tooth count" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:335443002
xref: UMLS:C1290508
is_a: HP:0000164 ! Abnormality of the dentition
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T05:44:00Z

[Term]
id: HP:0006485
name: Agenesis of incisor
def: "Agenesis of incisor." [https://orcid.org/0000-0002-0736-9199]
comment: Failure of one or more incisors to develop.
synonym: "Absence of front tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Absence of incisors" RELATED layperson []
synonym: "Failure of development of incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing front tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing incisors" RELATED layperson []
xref: UMLS:C4020815
xref: UMLS:C4020816
xref: UMLS:C4083290
is_a: HP:0001592 ! Selective tooth agenesis
is_a: HP:0011064 ! Abnormal number of incisors
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T05:49:00Z

[Term]
id: HP:0006486
name: Abnormal dental root morphology
def: "An abnormality of the dental root." [https://orcid.org/0000-0002-9338-3017]
synonym: "Abnormality of the dental root" EXACT layperson []
synonym: "Abnormality of tooth root" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Dental root anomaly" EXACT []
xref: UMLS:C4025041
is_a: HP:0006482 ! Abnormal dental morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T05:52:00Z

[Term]
id: HP:0006487
name: Bowing of the long bones
alt_id: HP:0002976
alt_id: HP:0005087
alt_id: HP:0005908
alt_id: HP:0006404
alt_id: HP:0006451
alt_id: HP:0006452
def: "A bending or abnormal curvature of a long bone." [https://orcid.org/0000-0002-0736-9199]
comment: Curvatures of a long bone such as femur, tibia, or fibula.
synonym: "Bowed long bones" EXACT layperson []
synonym: "Bowing of long bones" EXACT layperson []
synonym: "Bowing of the long bones" EXACT layperson []
synonym: "Camptomelia" EXACT []
synonym: "Diaphyseal bowing" EXACT []
synonym: "Diaphyseal bowing of long bones" EXACT []
xref: UMLS:C1855340
is_a: HP:0000940 ! Abnormal diaphysis morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T05:56:00Z

[Term]
id: HP:0006488
name: Bowing of the arm
def: "A bending or abnormal curvature affecting a long bone of the arm." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bending of the arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Bowing of the arm" EXACT layperson []
xref: UMLS:C0426863
is_a: HP:0002817 ! Abnormality of the upper limb
is_a: HP:0006487 ! Bowing of the long bones
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T05:57:00Z

[Term]
id: HP:0006489
name: Abnormal femoral metaphysis morphology
def: "An anomaly of the femoral metaphysis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the femoral metaphysis" EXACT []
synonym: "Abnormality of the wide portion of the femoral bone" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025040
xref: UMLS:C4280444
is_a: HP:0002823 ! Abnormal femur morphology
is_a: HP:0006490 ! Abnormal lower-limb metaphysis morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T06:02:00Z

[Term]
id: HP:0006490
name: Abnormal lower-limb metaphysis morphology
synonym: "Abnormality of lower-limb metaphyses" EXACT []
synonym: "Abnormality of the wide portion of the lower-limb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025039
is_a: HP:0000944 ! Abnormal metaphysis morphology
is_a: HP:0002814 ! Abnormality of the lower limb
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T06:02:00Z

[Term]
id: HP:0006491
name: Abnormal tibial metaphysis morphology
synonym: "Abnormality of the tibial metaphysis" EXACT []
synonym: "Abnormality of the wide portion of shankbone" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the wide portion of shinbone" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025038
is_a: HP:0002992 ! Abnormal tibia morphology
is_a: HP:0006490 ! Abnormal lower-limb metaphysis morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T06:03:00Z

[Term]
id: HP:0006492
name: Aplasia/Hypoplasia of the fibula
alt_id: HP:0005672
alt_id: HP:0006421
def: "Absence or underdevelopment of the fibula." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Fibular aplasia/hypoplasia" EXACT []
synonym: "Hypoplastic/aplastic fibulae" EXACT []
xref: UMLS:C1856732
is_a: HP:0002991 ! Abnormal fibula morphology
is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T06:03:00Z

[Term]
id: HP:0006493
name: Aplasia/hypoplasia involving bones of the lower limbs
def: "Absence (due to failure to form) or underdevelopment of the bones of the lower limbs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small lower limb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped lower limb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025037
is_a: HP:0040069 ! Abnormal lower limb bone morphology
is_a: HP:0045060 ! Aplasia/hypoplasia involving bones of the extremities
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T06:04:00Z

[Term]
id: HP:0006494
name: Aplasia/Hypoplasia involving bones of the feet
synonym: "Absent/small foot bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped foot bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025036
is_a: HP:0001760 ! Abnormal foot morphology
is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T06:08:00Z

[Term]
id: HP:0006495
name: Aplasia/Hypoplasia of the ulna
alt_id: HP:0005097
alt_id: HP:0006372
alt_id: HP:0006410
def: "Absence or underdevelopment of the ulna." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absence/underdevelopment of inner forearm bone" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Absent-hypoplastic ulnae" EXACT []
synonym: "Absent/small ulna" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Hypoplasia or unilateral/bilateral absence of ulna" EXACT []
synonym: "Ulnar hypoplasia/aplasia" EXACT []
xref: UMLS:C1865571
is_a: HP:0006503 ! Aplasia/hypoplasia involving forearm bones
is_a: HP:0040071 ! Abnormal morphology of ulna
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T06:15:00Z

[Term]
id: HP:0006496
name: Aplasia/hypoplasia involving bones of the upper limbs
def: "Absence (due to failure to form) or underdevelopment of the bones of the upper limbs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small bones of the upper limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped bones of the upper limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025035
is_a: HP:0002817 ! Abnormality of the upper limb
is_a: HP:0045060 ! Aplasia/hypoplasia involving bones of the extremities
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T06:16:00Z

[Term]
id: HP:0006498
name: Aplasia/Hypoplasia of the patella
alt_id: HP:0005006
alt_id: HP:0005027
alt_id: HP:0005702
alt_id: HP:0005729
alt_id: HP:0006374
def: "Absence or underdevelopment of the patella." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent or hypoplastic patellae" EXACT []
synonym: "Absent/hypoplastic patella" EXACT []
synonym: "Absent/small kneecap" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped kneecap" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Aplastic or hypoplastic patellae" EXACT []
synonym: "Hypoplastic or absent patella" EXACT []
synonym: "Patellar aplasia/hypoplasia" EXACT []
synonym: "Small to absent patellae" EXACT []
xref: UMLS:C1868577
is_a: HP:0003045 ! Abnormal patella morphology
is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T06:25:00Z

[Term]
id: HP:0006499
name: Abnormal femoral epiphysis morphology
alt_id: HP:0006412
alt_id: HP:0008811
def: "An anomaly of a growth plate of a femur." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of femoral epiphysis" EXACT []
synonym: "Abnormality of thighbone end part" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025034
is_a: HP:0002823 ! Abnormal femur morphology
is_a: HP:0006500 ! Abnormal lower limb epiphysis morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T06:28:00Z

[Term]
id: HP:0006500
name: Abnormal lower limb epiphysis morphology
def: "An anomaly of one or more epiphyses of one or both legs." []
synonym: "Abnormal shape of end part of lower limb end bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality involving the epiphyses of the lower limbs" EXACT []
synonym: "Abnormality of lower limb epiphysis morphology" EXACT []
xref: UMLS:C4021595
is_a: HP:0002814 ! Abnormality of the lower limb
is_a: HP:0006505 ! Abnormal limb epiphysis morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T06:31:00Z

[Term]
id: HP:0006501
name: Aplasia/Hypoplasia of the radius
alt_id: HP:0005718
def: "A small/hypoplastic or absent/aplastic radius." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absence or underdevelopment of the radius bone of the arm" EXACT []
synonym: "Absent/small radius" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Absent/underdeveloped radius" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Radial aplasia/hypoplasia" EXACT []
xref: UMLS:C2749463
is_a: HP:0002818 ! Abnormal morphology of the radius
is_a: HP:0006503 ! Aplasia/hypoplasia involving forearm bones
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T06:32:00Z

[Term]
id: HP:0006502
name: Aplasia/Hypoplasia involving the carpal bones
def: "Absence or underdevelopment of the carpal bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small wrist bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped wrist bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025033
is_a: HP:0001191 ! Abnormal carpal morphology
is_a: HP:0005927 ! Aplasia/hypoplasia involving bones of the hand
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T06:35:00Z

[Term]
id: HP:0006503
name: Aplasia/hypoplasia involving forearm bones
def: "Absence (due to failure to form) or underdevelopment of one or more forearm bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small forearm bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped forearm bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025032
is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs
is_a: HP:0040072 ! Abnormal forearm bone morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T06:45:00Z

[Term]
id: HP:0006504
name: obsolete Anomaly of the limb diaphyses morphology
synonym: "Abnormality of shaft of long bone of the limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
is_obsolete: true
replaced_by: HP:0000940
creation_date: 2008-03-28T06:47:00Z

[Term]
id: HP:0006505
name: Abnormal limb epiphysis morphology
def: "An anomaly of one or more epiphyses of a limb." []
comment: An epiphysis is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.
synonym: "Abnormal shape of end part of limb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality involving the epiphyses of the limbs" EXACT []
synonym: "Abnormality of limb epiphysis morphology" EXACT []
xref: UMLS:C4021593
is_a: HP:0002813 ! Abnormal limb bone morphology
is_a: HP:0005930 ! Abnormal epiphysis morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-28T06:48:00Z

[Term]
id: HP:0006507
name: Aplasia/hypoplasia of the humerus
def: "Absence (due to failure to form) or underdevelopment of the humerus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025031
is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs
is_a: HP:0031095 ! Abnormal humerus morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-29T09:15:00Z

[Term]
id: HP:0006508
name: Abnormality of tibial epiphyses
synonym: "Abnormality of end part of shinbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025030
is_a: HP:0002992 ! Abnormal tibia morphology
is_a: HP:0006500 ! Abnormal lower limb epiphysis morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-29T09:19:00Z

[Term]
id: HP:0006509
name: Diverticulosis of trachea
def: "Tracheal diverticula are blind-ended outpouchings arising from the trachea. They are usually an incidental finding. Occasionally they can mimic pneumomediastinum. Tracheal diverticula are either congenital or acquired, in the latter case the most common causes are prolonged increased intraluminal pressure, e.g. chronic cough, COPD, tracheomalacia, and iatrogenic (e.g. post-surgical)." [PMID:18544671, PMID:27867581]
synonym: "Paratracheal air cyst" RELATED []
synonym: "Tracheal diverticulosis" EXACT []
synonym: "Tracheal diverticulum" EXACT [http://radiopaedia.org/articles/tracheal-diverticulum, https://orcid.org/0000-0001-5208-3432]
synonym: "Tracheocele" EXACT []
xref: SNOMEDCT_US:14011008
xref: UMLS:C0340213
is_a: HP:0002778 ! Abnormal tracheal morphology

[Term]
id: HP:0006510
name: Chronic pulmonary obstruction
alt_id: HP:0006541
def: "An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities." [PMID:25943942]
comment: COPD is usually conceptualized as a disease entity. It is heterogeneous histologically and pathogenically, and conventionally includes emphysema and chronic bronchitis, It is included as a phenotype term as COPD is often annotated as a feature of other diseases.
synonym: "Chronic obstructive pulmonary disease" EXACT []
synonym: "COPD" EXACT abbreviation []
xref: SNOMEDCT_US:13645005
xref: UMLS:C0024117
is_a: HP:0006536 ! Airway obstruction

[Term]
id: HP:0006511
name: Laryngeal stridor
def: "An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat." [https://orcid.org/0000-0002-0736-9199]
comment: The laryngeal stridor sound is usually heard during inspiratory phase, also called inspiratory stridor, and may accompanied by inspiratory difficulty in breathing. It may be due to abnormal flaccidity of the epiglottis or arytenoids.
synonym: "Laryngeal stidor" EXACT []
xref: SNOMEDCT_US:406444002
xref: SNOMEDCT_US:41432000
xref: SNOMEDCT_US:53787002
xref: UMLS:C0023066
is_a: HP:0025424 ! Abnormal larynx physiology

[Term]
id: HP:0006514
name: Intraalveolar nodular calcifications
xref: UMLS:C4025028
is_a: HP:0010766 ! Ectopic calcification
is_a: HP:0033137 ! Abnormal pulmonary alveolar system morphology

[Term]
id: HP:0006515
name: Interstitial pneumonitis
xref: SNOMEDCT_US:64667001
xref: UMLS:C0206061
is_a: HP:0006530 ! Abnormal pulmonary interstitial morphology

[Term]
id: HP:0006516
name: Hypersensitivity pneumonitis
def: "Hypersensitivity pneumonitis involves inhalation of an antigen. This leads to an exaggerated immune response and a following inflammation of the alveoli within the lungs. The main feature of chronic hypersensitivity pneumonitis on lung biopsies is expansion of the interstitium by lymphocytes accompanied by an occasional multinucleated giant cell or loose granuloma. After exposure to the provoking antigen, following symptoms can be seen: fever, chills, malaise, cough, hemoptysis, chest tightness, dyspnea, rash, swelling and headache and can be completely reversible, based on the duration of the illness, categorized as acute (HP:0011009), subacute (HP:0011011), and chronic (HP:0011010)." [https://orcid.org/0000-0003-0113-912X, PMID:15316440, PMID:16635083, PMID:18051218]
comment: Hypersensitivity pneumonitis may also be called many different names, based on the provoking antigen.
xref: SNOMEDCT_US:37471005
xref: UMLS:C0002390
is_a: HP:0006530 ! Abnormal pulmonary interstitial morphology

[Term]
id: HP:0006517
name: Intraalveolar phospholipid accumulation
alt_id: HP:0032982
def: "Accumulation of amorphous PAS-positive material in the space between alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis." [https://orcid.org/0000-0002-0736-9199, PMID:21900000, PMID:22891182]
comment: The periodic acid Schiff (PAS) staining is a staining method that detects polysaccharidese and mucosubstances, for example: glycogen, glyolipids, glyoproteins and mucins. It is one of the commonly used procedures in the histophathology laboratory and is easy to perform. It may help in discriminating different forms of interstitial lung disease (ILD), especially pulmonary alveolar proteinosis (PAP).
synonym: "Alveolar proteinosis" EXACT []
synonym: "Detection of PAS-positive extracellular material in broncho-alveolar lavage" EXACT []
synonym: "Pulmonary alveolar proteinosis" EXACT []
xref: SNOMEDCT_US:10501004
xref: UMLS:C0034050
is_a: HP:0032973 ! Abnormal bronchoalveolar lavage fluid morphology

[Term]
id: HP:0006518
name: Pulmonary venous occlusion
def: "Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-4546-6667, PMID:20456932, PMID:27009171]
comment: This feature can be observed by histological examination of lung tissue. The feature can be seen in pulmonary veno-occlusive disease (PVOD). PVOD is characterized by diffuse occlusion of the pulmonary veins by fibrous tissue, pulmonary venous congestion and associated complications including severe pulmonary hypertension (pHTN), non-cardiogenic pulmonary edema, hypoxia and right-ventricular failure. Clinical presentation is typically non-specific, including dyspnea, fatigue and cough.
synonym: "Pulmonary venoocclusive disease" RELATED []
synonym: "Pulmonary venous stenosis" EXACT []
xref: Fyler:3002
xref: SNOMEDCT_US:89420002
xref: UMLS:C0034091
xref: UMLS:C4280802
is_a: HP:0030968 ! Abnormal pulmonary vein morphology

[Term]
id: HP:0006519
name: Alveolar cell carcinoma
alt_id: HP:0006757
def: "Adenocarcinoma of the Bronchus." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:112677002
xref: SNOMEDCT_US:36310008
xref: SNOMEDCT_US:373627005
xref: UMLS:C0007120
is_a: HP:0100552 ! Neoplasm of the tracheobronchial system

[Term]
id: HP:0006520
name: Progressive pulmonary function impairment
xref: UMLS:C1849570
is_a: HP:0002795 ! Abnormal respiratory system physiology

[Term]
id: HP:0006521
name: Pulmonary lymphangiectasia
alt_id: HP:0006526
alt_id: HP:0006551
def: "Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid." [https://orcid.org/0000-0002-0736-9199]
synonym: "Pulmonary lymphangiectasis" EXACT []
xref: UMLS:C1855480
is_a: HP:0006529 ! Abnormal pulmonary lymphatics
is_a: HP:0031842 ! Lymphangiectasis

[Term]
id: HP:0006522
name: Repeated pneumothoraces
synonym: "Repeated pneumothorax" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4025027
is_a: HP:0002107 ! Pneumothorax

[Term]
id: HP:0006524
name: Tracheobronchial leiomyomatosis
xref: UMLS:C3806786
is_a: HP:0100552 ! Neoplasm of the tracheobronchial system

[Term]
id: HP:0006525
name: obsolete Lung segmentation defects
is_obsolete: true
replaced_by: HP:0002101

[Term]
id: HP:0006527
name: Lymphocytic interstitial pneumonia
def: "Lymphocytic interstitial pneumonitis is a benign lymphoproliferative disorder of the lung that is characterized by the presence of a dense, predominantly lymphocytic interstitial infiltrate (lymphocytes, plasma cells, other elements of the lymphoreticular system) that expands the alveolar septa." [https://orcid.org/0000-0002-0736-9199, PMID:32040879]
comment: Lymphocytic interstitial pneumonitis is assumed to be a pathological immunologic response to different triggers and are particularly associated with autoimmune and infectious diseases as well as immunodeficiency. Associated clinical manifestations often include fever, cough, and shortness of breath.
synonym: "Lymphocytic interstitial pneumonitis" EXACT []
synonym: "Lymphoid interstitial pneumonia" EXACT []
synonym: "Lymphoid interstitial pneumonitis" EXACT []
xref: SNOMEDCT_US:44274007
xref: UMLS:C0264511
is_a: HP:0006515 ! Interstitial pneumonitis
is_a: HP:0033582 ! Pulmonary interstitial lymphocyte infiltration

[Term]
id: HP:0006528
name: Chronic lung disease
def: "According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities." [HPO_CONTRIBUTOR:IMM_tkuijpers]
synonym: "Chronic lung disease" EXACT layperson []
xref: SNOMEDCT_US:413839001
xref: UMLS:C0746102
is_a: HP:0002795 ! Abnormal respiratory system physiology

[Term]
id: HP:0006529
name: Abnormal pulmonary lymphatics
def: "An abnormality of the pulmonary lymphatic chain." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025026
is_a: HP:0002088 ! Abnormal lung morphology
is_a: HP:0100763 ! Abnormality of the lymphatic system

[Term]
id: HP:0006530
name: Abnormal pulmonary interstitial morphology
alt_id: HP:0006513
alt_id: HP:0006547
def: "Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal lung parenchyma morphology" EXACT []
synonym: "Abnormality in area between air sacs in lung" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Interstitial lung disease" EXACT []
synonym: "Interstitial pulmonary disease" EXACT []
xref: SNOMEDCT_US:233703007
xref: UMLS:C0206062
is_a: HP:0002088 ! Abnormal lung morphology

[Term]
id: HP:0006531
name: Pleural lymphangiectasia
xref: UMLS:C1856139
is_a: HP:0002103 ! Abnormal pleura morphology
is_a: HP:0031842 ! Lymphangiectasis

[Term]
id: HP:0006532
name: Recurrent pneumonia
alt_id: HP:0002095
alt_id: HP:0002096
def: "An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia." [https://orcid.org/0000-0002-0736-9199, PMID:15750465]
comment: Recurrent pneumonia is defined as two or more episodes in a single year, or at least three episodes ever, with radiographic clearing of densities between occurrences.
synonym: "Multiple pulmonary infections" EXACT []
synonym: "Pneumonia, recurrent" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Pneumonia, recurrent episodes" EXACT []
synonym: "Pulmonary infection" EXACT []
synonym: "Pulmonary infections" EXACT []
synonym: "pulmonary infections, recurrent" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Recurrent pneumonia" EXACT layperson []
synonym: "Recurrent pulmonary infections" EXACT []
xref: SNOMEDCT_US:128601007
xref: SNOMEDCT_US:699014000
xref: UMLS:C0694550
xref: UMLS:C0748140
xref: UMLS:C0876973
xref: UMLS:C1859117
is_a: HP:0002090 ! Pneumonia
is_a: HP:0002783 ! Recurrent lower respiratory tract infections

[Term]
id: HP:0006533
name: Bronchodysplasia
xref: UMLS:C4025025
is_a: HP:0025426 ! Abnormal bronchus morphology

[Term]
id: HP:0006535
name: Recurrent intrapulmonary hemorrhage
def: "A recurrent hemorrhage occurring within the lung." [HPO_CONTRIBUTOR:gcarletti]
synonym: "Recurrent bleeding into lungs" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Recurrent intrapulmonary haemorrhage" EXACT uk_spelling []
synonym: "Recurrent pulmonary haemorrhage" EXACT uk_spelling []
synonym: "Recurrent pulmonary hemorrhage" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C3805919
is_a: HP:0040223 ! Pulmonary hemorrhage

[Term]
id: HP:0006536
name: Airway obstruction
alt_id: HP:0006512
def: "Obstruction of conducting airways of the lung." [https://orcid.org/0000-0002-0736-9199]
synonym: "Obstructive lung disease" EXACT layperson []
synonym: "Pulmonary obstruction" EXACT []
xref: UMLS:C0600260
is_a: HP:0002795 ! Abnormal respiratory system physiology

[Term]
id: HP:0006538
name: Recurrent bronchopulmonary infections
def: "An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections." [https://orcid.org/0000-0002-0736-9199]
synonym: "Recurrent bronchopneumonia" EXACT []
synonym: "Recurrent infections in bronchi and lungs" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C2169795
is_a: HP:0002205 ! Recurrent respiratory infections

[Term]
id: HP:0006539
name: Bronchial cartilage hypoplasia
synonym: "Underdevelopment of the bronical cartilage" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025024
is_a: HP:0025426 ! Abnormal bronchus morphology

[Term]
id: HP:0006541
name: obsolete Chronic obstructive airway disease from birth
is_obsolete: true
replaced_by: HP:0006510

[Term]
id: HP:0006543
name: Cardiorespiratory arrest
xref: SNOMEDCT_US:410430005
xref: UMLS:C0600228
is_a: HP:0005943 ! Respiratory arrest

[Term]
id: HP:0006544
name: Extrapulmonary lobar sequestration
def: "A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree." [https://orcid.org/0000-0002-0736-9199, PMID:20610189]
comment: Extralobar sequestration (ELS) may be asymptomatic. Infants with symptomatic lesions may present with respiratory distress, pneumonia, feeding difficulties, hemorrhage, or even congestive heart failure. The sequestered lobe may cause substantial arteriovenous shunting, leading to high-output cardiac failure. Extrapulmonary sequestra nearly all appear on the left side.
synonym: "Diaphragmatic sequestrum" RELATED []
synonym: "Extralobar sequestration" EXACT []
synonym: "Extrapulmonary sequestrum" EXACT []
xref: UMLS:C4020814
xref: UMLS:C4025023
is_a: HP:0100632 ! Pulmonary sequestration

[Term]
id: HP:0006548
name: Pulmonary arteriovenous malformation
alt_id: HP:0002114
alt_id: HP:0006537
def: "Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins." [PMID:30386957, PMID:788535]
synonym: "Pulmonary AV malformation" EXACT []
xref: Fyler:2210
xref: UMLS:C1857690
is_a: HP:0004930 ! Abnormality of the pulmonary vasculature
is_a: HP:0100026 ! Arteriovenous malformation

[Term]
id: HP:0006549
name: Unilateral primary pulmonary dysgenesis
synonym: "Primary pulmonary dysgenesis, unilateral" EXACT []
xref: UMLS:C4021592
is_a: HP:4000059 ! Abnormal lung development

[Term]
id: HP:0006552
name: Fibrocystic lung disease
xref: UMLS:C1397290
is_a: HP:0005948 ! Multiple pulmonary cysts

[Term]
id: HP:0006554
name: Acute hepatic failure
alt_id: HP:0006556
def: "Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver." [https://orcid.org/0000-0002-0736-9199]
synonym: "Acute liver failure" EXACT layperson []
xref: SNOMEDCT_US:197270009
xref: SNOMEDCT_US:235884008
xref: UMLS:C0162557
is_a: HP:0001399 ! Hepatic failure

[Term]
id: HP:0006555
name: Diffuse hepatic steatosis
def: "A diffuse form of hepatic steatosis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hepatic steatosis, diffuse" EXACT []
xref: UMLS:C1849686
is_a: HP:0001397 ! Hepatic steatosis

[Term]
id: HP:0006557
name: Polycystic liver disease
xref: SNOMEDCT_US:72925005
xref: UMLS:C0158683
is_a: HP:0006706 ! Cystic liver disease

[Term]
id: HP:0006558
name: Decreased mitochondrial complex III activity in liver tissue
def: "Decreased activity of complex III of the mitochondrion in the liver." [https://orcid.org/0000-0002-0736-9199]
comment: Complex III, also known as ubiquinol-cytochrome c oxidoreductase or cytochrome bc1 complex, is a multisubunit integral membrane complex of the mitochondrial transport chain, which catalyzes electron transfer from ubiquinol to cytochrome c and couples this process to electrogenic translocation of protons across the mitochondrial inner membrane. Mitochondrial complex III is integrated in the inner mitochondrial membrane.
xref: UMLS:C4025022
is_a: HP:0025155 ! Abnormal hepatobiliary system physiology

[Term]
id: HP:0006559
name: Hepatic calcification
def: "The presence of abnormal calcium deposition in the liver." [https://orcid.org/0000-0002-0736-9199]
synonym: "Liver calcifications" EXACT []
xref: UMLS:C1696466
is_a: HP:0010766 ! Ectopic calcification
is_a: HP:0410042 ! Abnormal liver morphology

[Term]
id: HP:0006560
name: Biliary hyperplasia
def: "Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bile duct hyperplasia" EXACT []
xref: UMLS:C3672440
xref: UMLS:C3686778
is_a: HP:0012440 ! Abnormal biliary tract morphology

[Term]
id: HP:0006561
name: Lipid accumulation in hepatocytes
xref: UMLS:C1837257
is_a: HP:0031137 ! Storage in hepatocytes

[Term]
id: HP:0006562
name: Viral hepatitis
def: "Inflammation of the liver due to infection with a virus." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:3738000
xref: UMLS:C0042721
is_a: HP:0012115 ! Hepatitis

[Term]
id: HP:0006563
name: Malformation of the hepatic ductal plate
xref: UMLS:C1857519
is_a: HP:0004297 ! Abnormality of the biliary system

[Term]
id: HP:0006564
name: Fluctuating hepatomegaly
def: "Intermittently increased size of the liver." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1835881
is_a: HP:0002240 ! Hepatomegaly

[Term]
id: HP:0006565
name: Increased hepatocellular lipid droplets
def: "An abnormal increase in the amount of intracellular lipid droplets in hepatocytes." [https://orcid.org/0000-0002-0736-9199]
comment: Lipid droplets, rich in triglycerides and cholesterol esters, are cellular lipid storage organelles.
xref: UMLS:C4025021
is_a: HP:0006561 ! Lipid accumulation in hepatocytes

[Term]
id: HP:0006566
name: Neonatal cholestatic liver disease
xref: UMLS:C1859162
is_a: HP:0002611 ! Cholestatic liver disease

[Term]
id: HP:0006568
name: Increased hepatic glycogen content
def: "An increase in the amount of glycogen stored in hepatocytes compared to normal." [https://orcid.org/0000-0002-0736-9199]
comment: Glycogen acts as secondary long-term energy storage in the liver and other organs. Its intracellular concentration can be increased in some disease states such as obesity.
synonym: "Increased liver glycogen content" EXACT []
xref: UMLS:C1856285
is_a: HP:0500030 ! Abnormal hepatic glycogen storage

[Term]
id: HP:0006571
name: Reduced number of intrahepatic bile ducts
def: "The presence of reduced numbers of intrahepatic bile duct than normal." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hepatic ductopenia" EXACT []
synonym: "Intrahepatic duct deficiency" RELATED []
xref: UMLS:C1861621
xref: UMLS:C4021591
is_a: HP:0011040 ! Abnormal intrahepatic bile duct morphology

[Term]
id: HP:0006572
name: Subacute progressive viral hepatitis
xref: UMLS:C1861901
is_a: HP:0006562 ! Viral hepatitis

[Term]
id: HP:0006573
name: Acute hepatic steatosis
def: "An acute form of hepatic steatosis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Acute fatty liver" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4025020
is_a: HP:0001397 ! Hepatic steatosis

[Term]
id: HP:0006574
name: Hepatic arteriovenous malformation
alt_id: HP:0006569
synonym: "Liver arteriovenous malformation" EXACT []
xref: SNOMEDCT_US:84150000
xref: UMLS:C0520557
is_a: HP:0006707 ! Abnormality of the hepatic vasculature
is_a: HP:0100026 ! Arteriovenous malformation

[Term]
id: HP:0006575
name: Intrahepatic cholestasis with episodic jaundice
xref: UMLS:C4025019
is_a: HP:0001406 ! Intrahepatic cholestasis

[Term]
id: HP:0006576
name: Hepatic vascular malformations
synonym: "Liver vascular malformations" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1861790
is_a: HP:0006707 ! Abnormality of the hepatic vasculature

[Term]
id: HP:0006577
name: Macronodular cirrhosis
def: "A type of cirrhosis characterized by the presence of large regenerative nodules." [https://orcid.org/0000-0002-0736-9199]
comment: In macronodular cirrhosis (post-necrotic cirrhosis), the nodules are larger than 3 mm.
xref: SNOMEDCT_US:43904005
xref: SNOMEDCT_US:86454000
xref: UMLS:C2004456
is_a: HP:0001394 ! Cirrhosis

[Term]
id: HP:0006579
name: Prolonged neonatal jaundice
alt_id: HP:0000986
def: "Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants." [https://orcid.org/0000-0002-0736-9199]
synonym: "Jaundice, neonatal" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Neonatal jaundice" EXACT []
synonym: "Prolonged yellowing of skin in newborn" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:387712008
xref: UMLS:C0022353
xref: UMLS:C1859236
is_a: HP:0000952 ! Jaundice

[Term]
id: HP:0006580
name: Portal fibrosis
def: "Fibroblast proliferation and fiber expansion from the portal areas to the lobule." [https://orcid.org/0000-0002-0736-9199]
comment: Portal fibrosis can be seen in viral hepatitis and other types of liver disease.
synonym: "Portal fibrosis shown on biopsy" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C2677002
xref: UMLS:C3805083
is_a: HP:0004297 ! Abnormality of the biliary system

[Term]
id: HP:0006581
name: Depletion of mitochondrial DNA in liver
def: "An abnormal reduction in the number of mitochondria in hepatocytes." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025018
is_a: HP:0030059 ! Mitochondrial depletion
is_a: HP:0410042 ! Abnormal liver morphology

[Term]
id: HP:0006582
name: Reye syndrome-like episodes
def: "Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure." []
comment: This feature has been observed in individuals withe mitochondrial DNA depletion syndrome-6 (MTDPS6), also known as Navajo neurohepatopathy [MIM:256810].
xref: UMLS:C1850413
is_a: HP:0006846 ! Acute encephalopathy
is_a: HP:0025155 ! Abnormal hepatobiliary system physiology

[Term]
id: HP:0006583
name: Fatal liver failure in infancy
synonym: "Fatal liver failure in infancy" EXACT layperson []
xref: UMLS:C4025017
is_a: HP:0001399 ! Hepatic failure

[Term]
id: HP:0006584
name: Small abnormally formed scapulae
alt_id: HP:0006629
synonym: "Small abnormally formed scapula" EXACT []
synonym: "Small abnormally formed shoulder blade" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1861226
is_a: HP:0000882 ! Hypoplastic scapulae

[Term]
id: HP:0006585
name: Congenital pseudoarthrosis of the clavicle
alt_id: HP:0006612
alt_id: HP:0006661
def: "The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle." [https://orcid.org/0000-0002-0736-9199, PMID:22295044]
comment: In congenital pseudarthrosis of the clavicle, the two primary ossification centers fail to unite, probably due to a disruption of diaphyseal membranous ossification. See PMID:22295044, Figure 1, for the radiographic appearance of this feature.
synonym: "Bipartite clavicle" RELATED []
synonym: "Clavicle pseudoarthrosis" EXACT []
synonym: "Pseudoarthrosis of clavicle" EXACT []
xref: SNOMEDCT_US:249685004
xref: SNOMEDCT_US:249690001
xref: UMLS:C0426806
xref: UMLS:C0426811
is_a: HP:0005864 ! Pseudoarthrosis
is_a: HP:0006710 ! Aplasia/Hypoplasia of the clavicles

[Term]
id: HP:0006587
name: Straight clavicles
def: "An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved ." [https://orcid.org/0000-0002-0736-9199]
synonym: "Straight collarbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025016
is_a: HP:0000889 ! Abnormal clavicle morphology

[Term]
id: HP:0006589
name: Flaring of lower rib cage
synonym: "Flaring of lower rib cage" EXACT layperson []
xref: UMLS:C1855196
is_a: HP:0000904 ! Flaring of rib cage

[Term]
id: HP:0006590
name: Premature sternal synostosis
def: "Prematurely closed sternal sutures." [https://orcid.org/0000-0002-0736-9199, PMID:13542801]
synonym: "Prematurely closed sternal sutures" EXACT []
xref: UMLS:C4021590
is_a: HP:0006714 ! Aplasia/Hypoplasia of the sternum

[Term]
id: HP:0006591
name: Absent glenoid fossa
def: "Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Aplasia of the glenoid fossa" EXACT []
xref: UMLS:C4021589
is_a: HP:0011912 ! Abnormality of the glenoid fossa

[Term]
id: HP:0006593
name: Anomalous rib insertion to vertebrae
xref: UMLS:C1861704
is_a: HP:0000772 ! Abnormal rib morphology

[Term]
id: HP:0006595
name: Scapulohumeral synostosis
alt_id: HP:0010792
def: "Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fusion of shoulder blade to long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Humero-scapulo synostosis" EXACT []
synonym: "Humeroscapular synostosis" EXACT []
synonym: "Synostosis of shoulder joint" EXACT []
xref: UMLS:C1865362
is_a: HP:0000782 ! Abnormal scapula morphology
is_a: HP:0001376 ! Limitation of joint mobility
is_a: HP:0003043 ! Abnormal shoulder morphology
is_a: HP:0031095 ! Abnormal humerus morphology
is_a: HP:0100238 ! Synostosis involving bones of the upper limbs

[Term]
id: HP:0006596
name: Restricted chest movement
synonym: "Restricted chest movement" EXACT layperson []
xref: UMLS:C4025015
is_a: HP:0001376 ! Limitation of joint mobility
is_a: HP:0001547 ! Abnormal rib cage morphology

[Term]
id: HP:0006597
name: Diaphragmatic paralysis
def: "The presence of a paralyzed diaphragm." [https://orcid.org/0000-0002-0736-9199, PMID:3612666]
comment: Loss of the ability to move the diaphragm for respiratory motions. Patients with complete diaphragm paralysis complain of gross orthopnoea, disturbed sleep and early morning headaches. They have shortness of breath on minimal exertion and, because they sleep poorly, they experience daytime fatigue.
synonym: "Diaphragmatic paralysis" EXACT layperson []
synonym: "Paralysed diaphragm" EXACT uk_spelling []
synonym: "Paralyzed diaphragm" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:64228003
xref: UMLS:C0035232
is_a: HP:0003470 ! Paralysis
is_a: HP:0009113 ! Diaphragmatic weakness

[Term]
id: HP:0006598
name: Irregular ossification at anterior rib ends
xref: UMLS:C1850083
is_a: HP:0012306 ! Abnormal rib ossification

[Term]
id: HP:0006599
name: Medial widening of clavicles
xref: UMLS:C1866729
is_a: HP:0000889 ! Abnormal clavicle morphology

[Term]
id: HP:0006600
name: Progressive calcification of costochondral cartilage
xref: UMLS:C1968577
is_a: HP:0000919 ! Abnormality of the costochondral junction
is_a: HP:0100593 ! Calcification of cartilage

[Term]
id: HP:0006603
name: Flared, irregular rib ends
synonym: "Flared, irregular rib ends" EXACT layperson []
xref: UMLS:C1865833
is_a: HP:0000887 ! Cupped ribs

[Term]
id: HP:0006606
name: Irregular chondrocostal junctions
alt_id: HP:0006658
def: "Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum." [https://orcid.org/0000-0002-0736-9199]
comment: The first seven pairs of ribs are connected with the sternum; the next three ribs are each articulated with the lower border of the cartilage of the preceding rib; the last two ribs have pointed extremities, which do not connect with the sternum.
synonym: "Irregular costochondral margins" EXACT []
xref: UMLS:C1861199
is_a: HP:0000919 ! Abnormality of the costochondral junction

[Term]
id: HP:0006607
name: Precocious costochondral ossification
def: "Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage." [https://orcid.org/0000-0002-0736-9199, PMID:10489169]
comment: The costal cartilage typically calcifies with advancing age and is therefore easier to identify on radiographs obtained in older patients.
xref: UMLS:C1849049
is_a: HP:0000919 ! Abnormality of the costochondral junction
is_a: HP:0004348 ! Abnormality of bone mineral density
is_a: HP:0012306 ! Abnormal rib ossification

[Term]
id: HP:0006608
name: Midclavicular hypoplasia
def: "Underdevelopment of the middle portion of the clavicle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Underdeveloped middle portion of the collarbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1844530
is_a: HP:0000894 ! Short clavicles

[Term]
id: HP:0006610
name: Wide intermamillary distance
alt_id: HP:0000779
alt_id: HP:0001554
def: "A larger than usual distance between the left and right nipple." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Wide-spaced nipples" EXACT layperson []
synonym: "Widely spaced nipples" EXACT layperson []
synonym: "Widely-spaced nipples" EXACT layperson []
xref: SNOMEDCT_US:423230008
xref: UMLS:C1827524
is_a: HP:0040157 ! Abnormal intermamillary distance

[Term]
id: HP:0006611
name: Decreased number of sternal ossification centers
def: "A less than normal number of sternal ossification centers. The sternum is initially formed from bilateral sternal plates that chondrify and begin to fuse with ribs at 10 weeks gestational age. Ossification starts in the manubrium and upper part of the sternal body at the 6th month, in the middle of the sternal body at the 7th month, in the lower part of the body during the 1st postnatal year and in the xiphoid process between years 5 and 18. The number of ossification centers vary up to six, and it is the ossification centers that are visualized by prenatal ultrasound. This term describes a reduction in the number of ossification centers compared with age-related norms." [https://orcid.org/0000-0002-0736-9199, PMID:10204210]
synonym: "Decreased number of sternal ossification centres" EXACT uk_spelling []
xref: UMLS:C1856223
is_a: HP:0011863 ! Abnormal sternal ossification

[Term]
id: HP:0006615
name: Absent in utero rib ossification
def: "Lack of formation and mineralization of the ribs in utero." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent rib calcification in utero" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1842695
is_a: HP:0012306 ! Abnormal rib ossification

[Term]
id: HP:0006619
name: Anterior rib punctate calcifications
def: "Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1859120
is_a: HP:0012306 ! Abnormal rib ossification
is_a: HP:0040059 ! Calcification of ribs

[Term]
id: HP:0006623
name: Costochondral joint sclerosis
def: "Abnormal increase in density of the tissue at the costochondral junctions." [https://orcid.org/0000-0002-0736-9199]
synonym: "Sclerotic costochondral joints" EXACT []
xref: UMLS:C4021588
is_a: HP:0000919 ! Abnormality of the costochondral junction

[Term]
id: HP:0006625
name: Multifocal breast carcinoma
def: "Breast carcinoma that is bilateral or otherwise multifocal." [https://orcid.org/0000-0002-0736-9199]
synonym: "Multifocal breast cancer" EXACT []
xref: UMLS:C2986662
is_a: HP:0003002 ! Breast carcinoma

[Term]
id: HP:0006628
name: Absent sternal ossification
alt_id: HP:0006654
alt_id: HP:0006666
def: "Lack of formation of mineralized bony tissue of the sternum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent bone maturation in sternum" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent sternal mineralization" EXACT []
synonym: "Lack of sternal ossification" EXACT []
xref: UMLS:C1857074
xref: UMLS:C4280443
is_a: HP:0006714 ! Aplasia/Hypoplasia of the sternum
is_a: HP:0011863 ! Abnormal sternal ossification

[Term]
id: HP:0006631
name: Hypoplastic distal segments of scapulae
synonym: "Small distal segments of the shoulder blade" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Small outermost segments of shoulder blade" BROAD []
synonym: "Underdeveloped outermost segments of shoulder blade" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025014
is_a: HP:0000882 ! Hypoplastic scapulae

[Term]
id: HP:0006633
name: Glenoid fossa hypoplasia
alt_id: HP:0006632
def: "Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Glenoid hypoplasia" EXACT []
synonym: "Hypoplastic glenoid fossa" EXACT []
xref: UMLS:C1834384
is_a: HP:0011912 ! Abnormality of the glenoid fossa

[Term]
id: HP:0006634
name: Osteosclerosis of ribs
def: "Osteosclerosis of ribs (increased density related to increased bone mass)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased bone density in ribs" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025013
is_a: HP:0012306 ! Abnormal rib ossification

[Term]
id: HP:0006637
name: Sternal punctate calcifications
xref: UMLS:C1859121
is_a: HP:0000766 ! Abnormal sternum morphology
is_a: HP:0010766 ! Ectopic calcification

[Term]
id: HP:0006638
name: Midclavicular aplasia
def: "Developmental defect resulting in congenital absence of the middle portion of the clavicle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Missing middle part of collarbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1844529
is_a: HP:0006710 ! Aplasia/Hypoplasia of the clavicles

[Term]
id: HP:0006640
name: Multiple rib fractures
alt_id: HP:0000923
def: "More than one fracture of the ribs. Callus formation around multiple rib fractures can produce a row of multiple rounded expansions (beadlike prominences) giving the appearance of beaded ribs. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib." [https://orcid.org/0000-0002-0736-9199]
synonym: "Multiple rib fractures" EXACT layperson []
xref: SNOMEDCT_US:1261007
xref: UMLS:C0272567
is_a: HP:0000772 ! Abnormal rib morphology

[Term]
id: HP:0006641
name: Prominent floating ribs
synonym: "Prominent floating ribs" EXACT layperson []
xref: UMLS:C4025012
is_a: HP:0000772 ! Abnormal rib morphology

[Term]
id: HP:0006642
name: Large sternal ossification centers
synonym: "Large sternal ossification centres" EXACT uk_spelling []
xref: UMLS:C1865241
is_a: HP:0011863 ! Abnormal sternal ossification

[Term]
id: HP:0006643
name: Fused sternal ossification centers
synonym: "Fused sternal ossification centres" EXACT uk_spelling []
xref: UMLS:C1859376
is_a: HP:0011863 ! Abnormal sternal ossification

[Term]
id: HP:0006644
name: Thoracic dysplasia
xref: UMLS:C1406921
is_a: HP:0001547 ! Abnormal rib cage morphology

[Term]
id: HP:0006645
name: Thin clavicles
def: "Abnormally reduced diameter (cross section) of the clavicles." [https://orcid.org/0000-0002-0736-9199]
synonym: "Thin collarbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:298764003
xref: UMLS:C0575535
is_a: HP:0000889 ! Abnormal clavicle morphology

[Term]
id: HP:0006646
name: Costal cartilage calcification
alt_id: HP:0006662
def: "Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cartilaginous ossification of rib" EXACT []
xref: UMLS:C1855608
is_a: HP:0012306 ! Abnormal rib ossification
is_a: HP:0100593 ! Calcification of cartilage

[Term]
id: HP:0006647
name: Congenital microthorax
xref: UMLS:C4025011
is_a: HP:0005257 ! Thoracic hypoplasia

[Term]
id: HP:0006649
name: Costochondral pain
def: "Chest wall pain in the area of the costochondral junctions." [https://orcid.org/0000-0002-0736-9199]
comment: Costochondral pain is in the differential diagnosis of chest pain, being a relatively benign cause compared to myocardial ischemia. Costochondral pain can be caused by costochondritis.
synonym: "Costochondral junction pain" EXACT []
xref: UMLS:C4021587
is_a: HP:0000919 ! Abnormality of the costochondral junction
is_a: HP:0012531 ! Pain

[Term]
id: HP:0006650
name: Thickening of the lateral border of the scapula
synonym: "Thickening of the lateral border of the shoulder blade" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1834383
is_a: HP:0000782 ! Abnormal scapula morphology

[Term]
id: HP:0006655
name: Rib segmentation abnormalities
xref: UMLS:C1968999
is_a: HP:0000772 ! Abnormal rib morphology

[Term]
id: HP:0006657
name: Hypoplasia of first ribs
alt_id: HP:0006614
alt_id: HP:0006653
synonym: "Hypoplastic first rib" EXACT []
synonym: "Hypoplastic first ribs" EXACT []
synonym: "Small first rib" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Underdeveloped first rib" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1834386
is_a: HP:0000773 ! Short ribs

[Term]
id: HP:0006659
name: Internally rotated shoulders
synonym: "Internally rotated shoulders" EXACT layperson []
xref: UMLS:C1862491
is_a: HP:0003043 ! Abnormal shoulder morphology

[Term]
id: HP:0006660
name: Aplastic clavicle
def: "Absence of the clavicles as a developmental defect." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Absent clavicles" EXACT []
synonym: "Absent collarbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Aplastic clavicles" EXACT plural_form []
xref: UMLS:C1857665
is_a: HP:0006710 ! Aplasia/Hypoplasia of the clavicles

[Term]
id: HP:0006665
name: Coat hanger sign of ribs
def: "An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger)." [https://orcid.org/0000-0002-0736-9199, PMID:12712270, PMID:21607596]
comment: The coat hanger abnormality of the ribs is said to be a useful diagnostic marker of paternal uniparental disomy of chromosome 14.
synonym: "Coat hanger sign of ribs" EXACT layperson []
xref: UMLS:C4025010
is_a: HP:0000772 ! Abnormal rib morphology

[Term]
id: HP:0006668
name: Twelfth rib hypoplasia
synonym: "Small twelfth rib" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Underdeveloped twelfth rib" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1859361
is_a: HP:0000773 ! Short ribs

[Term]
id: HP:0006670
name: Impaired myocardial contractility
xref: UMLS:C4025009
is_a: HP:0006673 ! Reduced systolic function

[Term]
id: HP:0006671
name: Paroxysmal atrial tachycardia
xref: SNOMEDCT_US:195069001
xref: UMLS:C0030587
is_a: HP:0004763 ! Paroxysmal supraventricular tachycardia

[Term]
id: HP:0006673
name: Reduced systolic function
xref: UMLS:C4025008
is_a: HP:0011025 ! Abnormal cardiovascular system physiology

[Term]
id: HP:0006677
name: Prolonged QRS complex
def: "Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec." [https://orcid.org/0000-0002-0736-9199]
synonym: "Intraventricular conduction delay" EXACT []
synonym: "Prolonged QRS complex on EKG" EXACT []
synonym: "QRS widening" EXACT []
xref: SNOMEDCT_US:991002
xref: UMLS:C0235475
is_a: HP:0025074 ! Abnormal QRS complex

[Term]
id: HP:0006679
name: Granulomatous coronary arteritis
def: "Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells." [https://orcid.org/0000-0002-0736-9199, PMID:937513]
comment: A granuloma is a compact (organized) collection of mature mononuclear phagocytes (macrophages and/or epithelioid cells) which may or may not be accompanied by accessory features such as necrosis or the infiltration of other inflammatory leukocytes (Adams DO. The granulomatous inflammatory response. Am J Pathol 1976:84:163-192).
xref: UMLS:C4025007
is_a: HP:0006704 ! Abnormal coronary artery morphology
is_a: HP:0012089 ! Arteritis

[Term]
id: HP:0006681
name: Absent atrioventricular node
xref: UMLS:C4025006
is_a: HP:0001678 ! Atrioventricular block

[Term]
id: HP:0006682
name: Premature ventricular contraction
alt_id: HP:0006678
alt_id: HP:0034041
def: "Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node." [https://orcid.org/0000-0002-0736-9199, PMID:30422584, PMID:32063472, PMID:32528299]
comment: A premature ventricular contraction (PVC) may be perceived as a skipped beat or as palpitations. Although they may cause symptoms such as palpitations or dizziness, incidental PVCs are generally considered benign. Highly frequent PVCs, however, can have detrimental effects on the left ventricular function over time and may cause or worsen heart failure. During a PVC, the heartbeat is initiated by the Purkinje fibers rather than the SA node. Given that a PVC occurs before a regular heartbeat, there is a pause before the next regular heartbeat. PVCs can occur in isolation or in repeated patterns. Two consecutive PVCs are termed doublets while three consecutive PVCs are named triplets. It is important to note that three or more consecutive PVCs are classified as ventricular tachycardia.
synonym: "Extra heart beat" EXACT layperson []
synonym: "Missed heartbeat" RELATED layperson []
synonym: "Premature ventricular beat" EXACT []
synonym: "Premature ventricular contractions" EXACT plural_form []
synonym: "Skipped heartbeat" RELATED layperson []
synonym: "Ventricular ectopics" EXACT []
synonym: "Ventricular extrasystoles" EXACT plural_form []
synonym: "Ventricular premature beat" EXACT []
xref: SNOMEDCT_US:17338001
xref: SNOMEDCT_US:251175005
xref: UMLS:C0151636
is_a: HP:0004308 ! Ventricular arrhythmia

[Term]
id: HP:0006683
name: Abnormal ventricular filling
def: "An abnormality of filling of a ventricle with blood during diastole." [https://orcid.org/0000-0002-0736-9199]
comment: Two diastolic properties, the rate of ventricular relaxation and the ventricular compliance are especially important determinants of ventricular filling.
xref: UMLS:C4025005
is_a: HP:0030872 ! Abnormal cardiac ventricular function

[Term]
id: HP:0006684
name: Ventricular preexcitation with multiple accessory pathways
def: "A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025004
is_a: HP:0004309 ! Ventricular preexcitation

[Term]
id: HP:0006685
name: Endocardial fibrosis
alt_id: HP:0005169
def: "The presence of excessive connective tissue in the endocardium." [https://orcid.org/0000-0002-0736-9199, PMID:29043203]
synonym: "Endomyocardial fibrosis" EXACT []
xref: SNOMEDCT_US:398716006
xref: UMLS:C0553980
is_a: HP:0004306 ! Abnormal endocardium morphology

[Term]
id: HP:0006687
name: Aortic tortuosity
def: "Abnormal tortuous (i.e., twisted) form of the aorta." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025003
is_a: HP:0001679 ! Abnormal aortic morphology

[Term]
id: HP:0006688
name: Paroxysmal tachycardia
xref: SNOMEDCT_US:12026006
xref: UMLS:C0039236
is_a: HP:0001649 ! Tachycardia

[Term]
id: HP:0006689
name: Bacterial endocarditis
def: "A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves." [https://orcid.org/0009-0006-4530-3154]
synonym: "Infective endocarditis" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:301183007
xref: UMLS:C0014121
is_a: HP:0100584 ! Endocarditis
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-12-27T02:57:48Z

[Term]
id: HP:0006690
name: Myocardial calcification
def: "Calcium deposition in the myocardium." [https://orcid.org/0000-0002-0736-9199]
comment: Calcification affecting the muscle layer of the heart.
synonym: "Calcified myocardium" EXACT []
xref: Fyler:1889
xref: UMLS:C1096561
is_a: HP:0001713 ! Abnormal cardiac ventricle morphology
is_a: HP:0011915 ! Cardiovascular calcification

[Term]
id: HP:0006691
name: Pulmonic valve myxoma
def: "A benign tumor of connective tissue containing mucous or gelatinous material (myxoma) localized in the pumonic valve." [PMID:35420369]
xref: UMLS:C4025002
is_a: HP:0001641 ! Abnormal pulmonary valve morphology

[Term]
id: HP:0006692
name: Short chordae tendineae of the tricuspid valve
def: "Abnormally short chordae tendineae of the tricuspid valve." [https://orcid.org/0000-0002-0736-9199]
comment: The chordae tendineae connect the papillary muscles to the tricuspid valve and the mitral valve.
xref: UMLS:C4025001
is_a: HP:0031442 ! Abnormal tricuspid chordae tendinae morphology

[Term]
id: HP:0006693
name: Myocardial steatosis
def: "Steatosis in the myocardium." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025000
is_a: HP:0001713 ! Abnormal cardiac ventricle morphology

[Term]
id: HP:0006694
name: Early progressive calcific cardiac valvular disease
xref: UMLS:C4024999
is_a: HP:0005146 ! Cardiac valve calcification

[Term]
id: HP:0006695
name: Atrioventricular canal defect
alt_id: HP:0005139
alt_id: HP:0005298
alt_id: HP:0010439
def: "A defect of the atrioventricular septum of the heart." [https://orcid.org/0000-0002-0736-9199, PMID:12632326]
comment: During atrioventricular valvuloseptal morphogenesis, the endocardial cushions expand as they are infiltrated by extracellular matrix secreted from the surrounding myocardium. The cushions then fuse and are remodeled to form the atrioventricular valves and septa. Failure of this process results in AVSD, with the degree of severity dependent on the stage at which the developmental failure occurs. AVSD are a spectrum of cardiac malformations that result in a persistent common atrioventricular canal.
synonym: "Atrioventricular septal defect" EXACT []
synonym: "Endocardial cushion defect" EXACT []
synonym: "Hole in center of heart" BROAD layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Hole in centre of heart" BROAD uk_spelling []
xref: Fyler:0606
xref: Fyler:1100
xref: Fyler:606
xref: SNOMEDCT_US:15459006
xref: UMLS:C0014116
xref: UMLS:C1389016
is_a: HP:0001671 ! Abnormal cardiac septum morphology

[Term]
id: HP:0006696
name: Polymorphic and polytopic ventricular extrasystoles
xref: UMLS:C4024998
is_a: HP:0006682 ! Premature ventricular contraction

[Term]
id: HP:0006698
name: Dilatation of the ventricular cavity
def: "A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole." [https://orcid.org/0000-0002-0736-9199]
comment: Aneurysm is considered a severe form of dilatation. Ventricular aneurysms may have rim of calcium in the affected regions of the ventricular wall (which can become fibrotic). Thromboembolism is a potential complication. Ventricular aneurysms can be diagnosed by ventriculography.
synonym: "Ventricular aneurysm" NARROW []
xref: SNOMEDCT_US:90539001
xref: UMLS:C0392464
is_a: HP:0001713 ! Abnormal cardiac ventricle morphology
is_a: HP:0002617 ! Vascular dilatation

[Term]
id: HP:0006699
name: Premature atrial contractions
def: "A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites." []
synonym: "Atrial ectopic beats" EXACT []
synonym: "Atrial premature complex" EXACT []
synonym: "Ectopic supraventricular rhythms" EXACT []
synonym: "PACs" EXACT abbreviation []
synonym: "Premature supraventricular beats" EXACT []
xref: SNOMEDCT_US:284470004
xref: SNOMEDCT_US:287057009
xref: SNOMEDCT_US:406461004
xref: SNOMEDCT_US:63593006
xref: UMLS:C0033036
is_a: HP:0005115 ! Supraventricular arrhythmia

[Term]
id: HP:0006702
name: Coronary artery dissection
def: "Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery." [https://orcid.org/0000-0002-0736-9199, PMID:20448134]
xref: UMLS:C1852540
is_a: HP:0006704 ! Abnormal coronary artery morphology

[Term]
id: HP:0006703
name: Aplasia/Hypoplasia of the lungs
synonym: "Absent/small lungs" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped lungs" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024996
is_a: HP:4000059 ! Abnormal lung development
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-29T03:17:00Z

[Term]
id: HP:0006704
name: Abnormal coronary artery morphology
def: "Any structural abnormality of the coronary arteries." [https://orcid.org/0000-0002-0736-9199]
xref: Fyler:3100
xref: SNOMEDCT_US:28574005
xref: UMLS:C0158623
is_a: HP:0011004 ! Abnormal systemic arterial morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-29T03:33:00Z

[Term]
id: HP:0006705
name: Abnormal atrioventricular valve morphology
alt_id: HP:0006675
def: "An abnormality of an atrioventricular valve." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the atrioventricular valves" EXACT []
xref: UMLS:C4024995
is_a: HP:0001654 ! Abnormal heart valve morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-29T03:34:00Z

[Term]
id: HP:0006706
name: Cystic liver disease
xref: SNOMEDCT_US:72925005
xref: UMLS:C0158683
is_a: HP:0410042 ! Abnormal liver morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-29T03:37:00Z

[Term]
id: HP:0006707
name: Abnormality of the hepatic vasculature
def: "An abnormality of the hepatic vasculature." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of liver blood vessels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the liver vasculature" EXACT []
xref: UMLS:C4024994
is_a: HP:0002597 ! Abnormality of the vasculature
is_a: HP:0410042 ! Abnormal liver morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-29T03:41:00Z

[Term]
id: HP:0006709
name: Aplasia/Hypoplasia of the nipples
alt_id: HP:0006602
alt_id: HP:0006669
synonym: "Absent/rudimentary nipples" EXACT []
synonym: "Absent/small nipples" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped nipples" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Nipples absent or rudimentary" EXACT []
xref: UMLS:C3150086
is_a: HP:0004404 ! Abnormal nipple morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-29T03:51:00Z

[Term]
id: HP:0006710
name: Aplasia/Hypoplasia of the clavicles
def: "Absence or underdevelopment of the clavicles (collar bones)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small collarbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped collarbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024993
is_a: HP:0000889 ! Abnormal clavicle morphology
is_a: HP:0006711 ! Aplasia/Hypoplasia involving bones of the thorax
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-29T03:53:00Z

[Term]
id: HP:0006711
name: Aplasia/Hypoplasia involving bones of the thorax
synonym: "Absent/small outermost thorax bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped thorax bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024992
is_a: HP:0000765 ! Abnormal thorax morphology
is_a: HP:0009122 ! Aplasia/hypoplasia affecting bones of the axial skeleton
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-29T03:53:00Z

[Term]
id: HP:0006712
name: Aplasia/Hypoplasia of the ribs
alt_id: HP:0006636
synonym: "Absent/small ribs" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped ribs" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Hypoplastic or missing ribs" EXACT []
xref: UMLS:C1847363
is_a: HP:0000772 ! Abnormal rib morphology
is_a: HP:0006711 ! Aplasia/Hypoplasia involving bones of the thorax
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-29T03:54:00Z

[Term]
id: HP:0006713
name: Aplasia/Hypoplasia of the scapulae
synonym: "Absent/small shoulder blade" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped shoulder blade" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024991
is_a: HP:0000782 ! Abnormal scapula morphology
is_a: HP:0006711 ! Aplasia/Hypoplasia involving bones of the thorax
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-29T03:58:00Z

[Term]
id: HP:0006714
name: Aplasia/Hypoplasia of the sternum
synonym: "Absent/small sternum" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped sternum" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024990
is_a: HP:0000766 ! Abnormal sternum morphology
is_a: HP:0006711 ! Aplasia/Hypoplasia involving bones of the thorax
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-29T04:01:00Z

[Term]
id: HP:0006715
name: Glomus tympanicum paraganglioma
alt_id: HP:0002892
synonym: "Tympanic nerve tumor" EXACT []
synonym: "Tympanic nerve tumors" EXACT []
synonym: "Tympanic nerve tumour" EXACT uk_spelling []
synonym: "Tympanic nerve tumours" EXACT uk_spelling []
xref: UMLS:C1866555
is_a: HP:0002864 ! Paraganglioma of head and neck

[Term]
id: HP:0006716
name: Hereditary nonpolyposis colorectal carcinoma
xref: UMLS:C4024989
is_a: HP:0002672 ! Gastrointestinal carcinoma
is_a: HP:0100834 ! Neoplasm of the large intestine

[Term]
id: HP:0006717
name: Peripheral neuroepithelioma
xref: SNOMEDCT_US:254764001
xref: UMLS:C3489398
is_a: HP:0100007 ! Neoplasm of the peripheral nervous system

[Term]
id: HP:0006719
name: Benign gastrointestinal tract tumors
synonym: "Benign gastrointestinal tract tumours" EXACT uk_spelling []
synonym: "Benign GI tract tumors" EXACT abbreviation []
synonym: "Benign GI tract tumours" EXACT uk_spelling []
synonym: "Non-cancerous GI tumors" EXACT layperson [https://orcid.org/0000-0001-9114-8737]
synonym: "Non-cancerous GI tumours" EXACT uk_spelling []
xref: SNOMEDCT_US:92118007
xref: UMLS:C0497538
is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract

[Term]
id: HP:0006721
name: Acute lymphoblastic leukemia
alt_id: HP:0004803
alt_id: HP:0005555
def: "A form of acute leukemia characterized by excess lympoblasts." [https://orcid.org/0000-0002-0736-9199]
synonym: "Acute lymphatic leukaemia" EXACT uk_spelling []
synonym: "Acute lymphatic leukemia" EXACT []
synonym: "Acute lymphoblastic leukaemia" EXACT uk_spelling []
synonym: "Acute lymphocytic leukaemia" EXACT uk_spelling []
synonym: "Acute lymphocytic leukemia" EXACT []
synonym: "Acute lymphoid leukaemia" EXACT uk_spelling []
synonym: "Acute lymphoid leukemia" EXACT []
xref: SNOMEDCT_US:128822004
xref: SNOMEDCT_US:91857003
xref: UMLS:C0023449
is_a: HP:0002488 ! Acute leukemia

[Term]
id: HP:0006722
name: Small intestine carcinoid
xref: UMLS:C1868072
is_a: HP:0100570 ! Carcinoid tumor
is_a: HP:0100833 ! Neoplasm of the small intestine

[Term]
id: HP:0006723
name: Intestinal carcinoid
xref: UMLS:C4024988
is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract
is_a: HP:0100570 ! Carcinoid tumor

[Term]
id: HP:0006725
name: Pancreatic adenocarcinoma
def: "The presence of an adenocarcinoma of the pancreas." [https://orcid.org/0000-0002-0736-9199]
xref: NCIT:C2852
xref: SNOMEDCT_US:700423003
xref: UMLS:C0281361
is_a: HP:0002894 ! Neoplasm of the pancreas

[Term]
id: HP:0006727
name: T-cell acute lymphoblastic leukemias
def: "Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females." [NCIT:C3183]
xref: SNOMEDCT_US:128824003
xref: SNOMEDCT_US:277575008
xref: UMLS:C1961099
is_a: HP:0006721 ! Acute lymphoblastic leukemia

[Term]
id: HP:0006729
name: Retroperitoneal paraganglioma
def: "A paraganglioma (previously referred to as chemodectoma) located in the retroperitoneal space. Paragangliomas (also known as extra-adrenal pheochromocytomas) are rare tumors that arise from extra-adrenal chromaffin cells. Paragangliomas are characterized by secretions of excessive catecholamines, including epinephrine, norepinephrine and dopamine, which may lead to clinical symptoms, including episodic hypertension, tachycardia and diaphoresis. However, between 40 and 50% of paragangliomas are non-functional." [PMID:31751047]
comment: The retroperitoneum is an anatomical space located behind the abdominal or peritoneal cavity. Abdominal organs that are not suspended by the mesentery and lie between the abdominal wall and parietal peritoneum are said to lie within the retroperitoneum. Several individual spaces make up the retroperitoneum. These spaces are the anterior pararenal space, posterior pararenal space, and the perirenal space.
synonym: "Retroperitoneal chemodectoma" EXACT []
xref: NCIT:C3308
xref: UMLS:C4024987
is_a: HP:0100568 ! Neoplasm of the endocrine system

[Term]
id: HP:0006731
name: Follicular thyroid carcinoma
def: "The presence of an follicular adenocarcinoma of the thyroid gland." [https://orcid.org/0000-0002-0736-9199]
xref: NCIT:C8054
xref: SNOMEDCT_US:255028004
xref: SNOMEDCT_US:28173006
xref: SNOMEDCT_US:5257006
xref: UMLS:C0206682
is_a: HP:0002890 ! Thyroid carcinoma

[Term]
id: HP:0006732
name: Papillary renal cell carcinoma type 2
def: "A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification." [https://orcid.org/0000-0002-9113-2978, PMID:12429790]
comment: Papillary renal cell carcinoma type 2 is a common feature of hereditary leiomyomatosis and renal cell cancer; HLRCC (OMIM 150800).
xref: UMLS:C1336840
is_a: HP:0006766 ! Papillary renal cell carcinoma

[Term]
id: HP:0006733
name: Acute megakaryocytic leukemia
def: "A rare subtype of acute myeloid leukemia evolving from primitive megakaryoblasts." []
synonym: "Acute megakaryocytic leukaemia" EXACT uk_spelling []
synonym: "AMegL" EXACT abbreviation []
xref: SNOMEDCT_US:17788007
xref: SNOMEDCT_US:413443009
xref: SNOMEDCT_US:91861009
xref: UMLS:C0023467
is_a: HP:0002488 ! Acute leukemia

[Term]
id: HP:0006735
name: Renal cortical adenoma
def: "The presence of an adenoma in the cortex of the kidney." [https://orcid.org/0000-0002-0736-9199]
synonym: "Kidney cortical adenoma" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: NCIT:C2855
xref: SNOMEDCT_US:254919009
xref: UMLS:C0346253
is_a: HP:0009726 ! Renal neoplasm

[Term]
id: HP:0006737
name: Extraadrenal pheochromocytoma
alt_id: HP:0006764
def: "Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Pheochromocytoma, extraadrenal" EXACT []
xref: UMLS:C1257877
is_a: HP:0002666 ! Pheochromocytoma

[Term]
id: HP:0006739
name: Squamous cell carcinoma of the skin
alt_id: HP:0007614
def: "Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium." [https://orcid.org/0000-0002-0736-9199]
synonym: "Squamous skin carcinoma" EXACT []
xref: SNOMEDCT_US:254651007
xref: UMLS:C0553723
is_a: HP:0002860 ! Squamous cell carcinoma

[Term]
id: HP:0006740
name: Transitional cell carcinoma of the bladder
def: "The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell." [https://orcid.org/0000-0002-0736-9199]
synonym: "Transitional cell bladder carcinoma" EXACT []
xref: NCIT:C2930
xref: SNOMEDCT_US:255109008
xref: UMLS:C0279680
is_a: HP:0002862 ! Bladder carcinoma

[Term]
id: HP:0006742
name: Congenital neuroblastoma
xref: UMLS:C4024986
is_a: HP:0003006 ! Neuroblastoma

[Term]
id: HP:0006743
name: Embryonal rhabdomyosarcoma
xref: NCIT:C8971
xref: SNOMEDCT_US:14269005
xref: SNOMEDCT_US:404051002
xref: UMLS:C0206656
is_a: HP:0002859 ! Rhabdomyosarcoma
is_a: HP:0002898 ! Embryonal neoplasm

[Term]
id: HP:0006744
name: Adrenocortical carcinoma
alt_id: HP:0002889
alt_id: HP:0006759
def: "A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Adrenal carcinoma" EXACT []
synonym: "Adrenal gland carinoma" EXACT []
xref: NCIT:C2916
xref: SNOMEDCT_US:2227007
xref: SNOMEDCT_US:255035007
xref: UMLS:C0206686
is_a: HP:0100641 ! Neoplasm of the adrenal cortex

[Term]
id: HP:0006747
name: Ganglioneuroblastoma
xref: SNOMEDCT_US:116381000119105
xref: SNOMEDCT_US:69515008
xref: UMLS:C0206718
is_a: HP:0003006 ! Neuroblastoma

[Term]
id: HP:0006748
name: Adrenal pheochromocytoma
alt_id: HP:0006752
def: "Pheochromocytoma originating from the adrenal medulla." [https://orcid.org/0000-0002-0736-9199]
synonym: "Pheochromocytoma, adrenal" EXACT []
synonym: "Pheochromocytomas, adrenal" EXACT []
xref: NCIT:C3326
xref: SNOMEDCT_US:302835009
xref: SNOMEDCT_US:399343007
xref: SNOMEDCT_US:85583005
xref: UMLS:C0031511
is_a: HP:0002666 ! Pheochromocytoma
is_a: HP:0100642 ! Neoplasm of the adrenal medulla

[Term]
id: HP:0006749
name: Malignant gastrointestinal tract tumors
synonym: "Malignant gastrointestinal tract tumours" EXACT uk_spelling []
synonym: "Malignant GI tract tumors" EXACT abbreviation [https://orcid.org/0000-0001-5208-3432]
synonym: "Malignant GI tract tumours" EXACT uk_spelling []
xref: SNOMEDCT_US:428905002
xref: UMLS:C0685938
is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract

[Term]
id: HP:0006751
name: Paraspinal neurofibroma
def: "A neurofibroma (benign peripheral nerve sheath tumor) localized adjacent to the spine." []
synonym: "Paraspinal neurofibromas" EXACT plural_form []
xref: UMLS:C4024985
is_a: HP:0034761 ! Neurofibroma by anatomical location

[Term]
id: HP:0006753
name: Neoplasm of the stomach
def: "A tumor (abnormal growth of tissue) of the stomach." [https://orcid.org/0000-0002-0736-9199]
synonym: "Neoplasia of the stomach" RELATED []
synonym: "Stomach tumor" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Stomach tumour" EXACT uk_spelling []
xref: NCIT:C3262
xref: SNOMEDCT_US:126824007
xref: UMLS:C0038356
xref: UMLS:C4020813
is_a: HP:0002577 ! Abnormal stomach morphology
is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract

[Term]
id: HP:0006755
name: Cutaneous leiomyosarcoma
def: "The presence of leiomyosarcoma of the skin." [https://orcid.org/0000-0002-0736-9199]
xref: NCIT:C3158
xref: SNOMEDCT_US:254771006
xref: UMLS:C0346067
is_a: HP:0008069 ! Neoplasm of the skin
is_a: HP:0100243 ! Leiomyosarcoma

[Term]
id: HP:0006756
name: Diffuse leiomyomatosis
xref: UMLS:C4024984
is_a: HP:0031459 ! Soft tissue neoplasm

[Term]
id: HP:0006758
name: Malignant genitourinary tract tumor
def: "The presence of a malignant neoplasm of the genital system." [https://orcid.org/0000-0002-0736-9199]
synonym: "Malignant genitourinary tract tumour" EXACT uk_spelling []
synonym: "Malignant GU tract tumor" EXACT abbreviation []
synonym: "Malignant GU tract tumour" EXACT uk_spelling []
xref: UMLS:C1834728
is_a: HP:0007379 ! Neoplasm of the genitourinary tract

[Term]
id: HP:0006762
name: Renal pelvic carcinoma
def: "The presence of a carcinoma in the renal pelvis." [https://orcid.org/0000-0002-0736-9199]
xref: NCIT:C2916
xref: UMLS:C4024983
is_a: HP:0009726 ! Renal neoplasm

[Term]
id: HP:0006763
name: Anal canal squamous carcinoma
xref: UMLS:C4024982
is_a: HP:0030437 ! Anal canal neoplasm

[Term]
id: HP:0006765
name: Chondrosarcoma
def: "A slowly growing malignant neoplasm derived from cartilage cells." [https://orcid.org/0000-0002-0736-9199]
xref: NCIT:C2946
xref: SNOMEDCT_US:14990007
xref: SNOMEDCT_US:443520009
xref: UMLS:C0008479
is_a: HP:0010622 ! Neoplasm of the skeletal system
is_a: HP:0100242 ! Sarcoma

[Term]
id: HP:0006766
name: Papillary renal cell carcinoma
alt_id: HP:0006776
def: "The presence of renal cell carcinoma in the renal papilla." [https://orcid.org/0000-0002-0736-9199]
xref: NCIT:C2916
xref: UMLS:C1306837
is_a: HP:0005584 ! Renal cell carcinoma

[Term]
id: HP:0006767
name: Pituitary prolactin cell adenoma
alt_id: HP:0040278
def: "A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women." [https://orcid.org/0000-0002-0538-4547]
synonym: "Pituitary prolactinoma" EXACT []
synonym: "Prolactin-secreting pituitary adenoma" EXACT []
synonym: "Prolactinoma" EXACT []
xref: SNOMEDCT_US:134209002
xref: SNOMEDCT_US:34337008
xref: UMLS:C0033375
is_a: HP:0002893 ! Pituitary adenoma

[Term]
id: HP:0006768
name: Localized neuroblastoma
synonym: "Localised neuroblastoma" EXACT uk_spelling []
xref: UMLS:C4024981
is_a: HP:0003006 ! Neuroblastoma

[Term]
id: HP:0006769
name: Myxoid subcutaneous tumors
synonym: "Myxoid subcutaneous tumours" EXACT uk_spelling []
xref: UMLS:C1834421
is_a: HP:0008069 ! Neoplasm of the skin

[Term]
id: HP:0006770
name: Clear cell renal cell carcinoma
def: "A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron." [https://orcid.org/0000-0002-9113-2978]
synonym: "Nonpapillary renal cell carcinoma" EXACT []
xref: SNOMEDCT_US:188251003
xref: SNOMEDCT_US:254915003
xref: SNOMEDCT_US:41607009
xref: UMLS:C0279702
is_a: HP:0005584 ! Renal cell carcinoma

[Term]
id: HP:0006771
name: Duodenal adenocarcinoma
def: "A malignant epithelial tumor with a glandular organization that originates in the duodenum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Duodenal cancer" RELATED [https://orcid.org/0000-0001-6908-9849]
xref: NCIT:C2852
xref: SNOMEDCT_US:254570009
xref: SNOMEDCT_US:408644002
xref: UMLS:C0278804
xref: UMLS:C0541912
is_a: HP:0040274 ! Adenocarcinoma of the small intestine

[Term]
id: HP:0006772
name: Renal angiomyolipoma
alt_id: HP:0100873
def: "A benign renal neoplasm composed of fat, vascular, and smooth muscle elements." [https://orcid.org/0000-0002-0736-9199]
comment: Angiomyolipoma is a benign renal neoplasm composed of fat, vascular, and smooth muscle elements.
synonym: "Angiomyolipoma" EXACT []
synonym: "Kidney angiomyolipoma" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: NCIT:C3734
xref: SNOMEDCT_US:254921004
xref: UMLS:C0241961
is_a: HP:0008696 ! Renal hamartoma

[Term]
id: HP:0006773
name: Cutaneous angiolipomas
xref: NCIT:C3733
xref: UMLS:C4024980
is_a: HP:0001012 ! Multiple lipomas
is_a: HP:0008069 ! Neoplasm of the skin

[Term]
id: HP:0006774
name: Ovarian papillary adenocarcinoma
def: "The presence of a papillary adenocarcinoma of the ovary." [https://orcid.org/0000-0002-0736-9199]
xref: NCIT:C2853
xref: UMLS:C4024979
is_a: HP:0100615 ! Ovarian neoplasm

[Term]
id: HP:0006775
name: Multiple myeloma
def: "A malignant plasma cell tumor growing within soft tissue or within the skeleton." [https://orcid.org/0009-0006-4530-3154]
synonym: "Kahler's disease" RELATED [https://orcid.org/0000-0001-6908-9849]
synonym: "Plasmocytoma" RELATED []
xref: SNOMEDCT_US:10639003
xref: SNOMEDCT_US:109989006
xref: SNOMEDCT_US:415112005
xref: SNOMEDCT_US:55921005
xref: UMLS:C0026764
xref: UMLS:C0032131
is_a: HP:0004377 ! Hematological neoplasm

[Term]
id: HP:0006778
name: Benign genitourinary tract neoplasm
def: "A non-malignant neoplasm of the genitourinary system." [https://orcid.org/0000-0002-0736-9199]
synonym: "Benign genitourinary tract tumor" EXACT []
synonym: "Benign genitourinary tract tumour" EXACT uk_spelling []
synonym: "Benign GU tract neoplasm" EXACT abbreviation []
xref: UMLS:C3804991
is_a: HP:0007379 ! Neoplasm of the genitourinary tract

[Term]
id: HP:0006779
name: Alveolar rhabdomyosarcoma
xref: NCIT:C3749
xref: SNOMEDCT_US:404053004
xref: SNOMEDCT_US:63449009
xref: UMLS:C0206655
is_a: HP:0002859 ! Rhabdomyosarcoma

[Term]
id: HP:0006780
name: Parathyroid carcinoma
def: "A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism." [https://orcid.org/0000-0002-0736-9199]
synonym: "Parathyroid Cancer" EXACT []
xref: NCIT:C2916
xref: SNOMEDCT_US:255037004
xref: SNOMEDCT_US:363481002
xref: UMLS:C0687150
is_a: HP:0100733 ! Neoplasm of the parathyroid gland

[Term]
id: HP:0006781
name: Hurthle cell thyroid adenoma
def: "A kind of thyroid adenoma characterized by the presence of oxyphil cells." [https://orcid.org/0000-0002-0736-9199]
comment: Oxyphil cells of thyroid, defined by the Cell Ontology as oncocytes located in the thyroid, are also known as Hurthle cells.
xref: UMLS:C1336750
is_a: HP:0000854 ! Thyroid adenoma

[Term]
id: HP:0006782
name: Malignant eosinophil proliferation
xref: UMLS:C1851585
is_a: HP:0004377 ! Hematological neoplasm

[Term]
id: HP:0006783
name: Posterior pharyngeal cleft
xref: UMLS:C1848389
is_a: HP:0000600 ! Abnormality of the pharynx

[Term]
id: HP:0006784
name: Paranasal sinus hypoplasia
def: "Underdevelopment of the paranasal sinuses." [https://orcid.org/0000-0002-0736-9199]
synonym: "Atelectasis of paranasal sinus" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased growth of paranasal sinus" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased pneumatization of paranasal sinus" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of paranasal sinus" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased volume of paranasal sinus" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypotrophic paranasal sinus" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Small paranasal sinus" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of paranasal sinus" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C2749161
xref: UMLS:C4280256
xref: UMLS:C4280441
xref: UMLS:C4280442
is_a: HP:0005453 ! Absent/hypoplastic paranasal sinuses

[Term]
id: HP:0006785
name: Limb-girdle muscular dystrophy
alt_id: HP:0009066
def: "Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders)." [https://orcid.org/0000-0002-0736-9199]
synonym: "limb girdle muscular dystrophy" EXACT []
xref: SNOMEDCT_US:93153005
xref: UMLS:C0686353
is_a: HP:0003560 ! Muscular dystrophy
is_a: HP:0003797 ! Limb-girdle muscle atrophy

[Term]
id: HP:0006789
name: Mitochondrial encephalopathy
xref: UMLS:C1852373
is_a: HP:0001298 ! Encephalopathy

[Term]
id: HP:0006790
name: Cerebral cortex with spongiform changes
xref: UMLS:C1857934
is_a: HP:0002538 ! Abnormal cerebral cortex morphology

[Term]
id: HP:0006794
name: Loss of ability to walk in first decade
synonym: "Loss of ability to walk in first decade" EXACT layperson []
xref: UMLS:C1846133
is_a: HP:0002505 ! Loss of ambulation

[Term]
id: HP:0006799
name: Basal ganglia cysts
alt_id: HP:0007244
synonym: "Cystic lesions in the basal ganglia" EXACT []
xref: UMLS:C1837251
is_a: HP:0002134 ! Abnormal basal ganglia morphology
is_a: HP:0010576 ! Intracranial cystic lesion

[Term]
id: HP:0006801
name: Hyperactive deep tendon reflexes
alt_id: HP:0007259
xref: UMLS:C1846176
is_a: HP:0001347 ! Hyperreflexia

[Term]
id: HP:0006802
name: Abnormal anterior horn cell morphology
def: "Any anomaly of the anterior horn cell." [https://orcid.org/0000-0002-0736-9199]
comment: Anterior horn cells are efferent neurons that passes from the central nervous system or a ganglion toward or to a muscle. They conduct nerve impulses that lead to movement of muscles.
synonym: "Abnormality of the anterior horn cell" BROAD []
synonym: "Abnormality of the anterior horn cells" EXACT []
synonym: "Anomaly of the anterior horn cells" EXACT []
synonym: "Anterior horn cell disease" EXACT []
xref: SNOMEDCT_US:85672005
xref: UMLS:C0154681
xref: UMLS:C4020812
is_a: HP:0000759 ! Abnormal peripheral nervous system morphology
is_a: HP:0002450 ! Abnormal motor neuron morphology

[Term]
id: HP:0006803
name: Vivid hallucination
def: "Perceptual experiences that are vivid, intense, and sensory in nature occur in the absence of corresponding stimuli from the external environment." []
xref: UMLS:C4024978
is_a: HP:0002367 ! Visual hallucination
property_value: terms:contributor https://orcid.org/0000-0001-7062-8192
property_value: terms:contributor https://orcid.org/0000-0001-7941-2961
property_value: terms:contributor https://orcid.org/0000-0001-9221-9226
property_value: terms:contributor https://orcid.org/0000-0002-0183-1637
property_value: terms:contributor https://orcid.org/0000-0003-1785-7126
property_value: terms:contributor https://orcid.org/0000-0003-2291-6952
property_value: terms:contributor https://orcid.org/0000-0003-4958-6025

[Term]
id: HP:0006808
name: Cerebral hypomyelination
def: "Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypomyelination of the brain" EXACT []
xref: UMLS:C2677328
is_a: HP:0003429 ! CNS hypomyelination

[Term]
id: HP:0006812
name: White mater abnormalities in the posterior periventricular region
xref: UMLS:C1836525
is_a: HP:0002500 ! Abnormal cerebral white matter morphology
property_value: terms:creator https://orcid.org/0000-0002-5316-1399

[Term]
id: HP:0006813
name: Focal hemiclonic seizure
def: "A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset." []
comment: A seizure type typically occurring in certain epilepsy syndromes, such as Dravet syndrome and self-limited neonatal seizures.
synonym: "Hemiclonic seizure" EXACT []
synonym: "Hemiclonic seizures" EXACT plural_form []
synonym: "Unilateral clonic seizure" EXACT []
synonym: "Unilateral clonic seizures" EXACT plural_form []
xref: UMLS:C1846620
is_a: HP:0002266 ! Focal clonic seizure

[Term]
id: HP:0006817
name: Aplasia/Hypoplasia of the cerebellar vermis
alt_id: HP:0005690
alt_id: HP:0007080
def: "Absence or underdevelopment of the vermis of cerebellum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cerebellar vermis aplasia or hypoplasia" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Cerebellar vermis aplasia/hypoplasia" EXACT []
synonym: "Hypo/aplastic vermis" EXACT []
xref: UMLS:C1855676
xref: UMLS:C3280770
is_a: HP:0002334 ! Abnormal cerebellar vermis morphology
is_a: HP:0007360 ! Aplasia/Hypoplasia of the cerebellum

[Term]
id: HP:0006818
name: 4-layered lissencephaly
def: "A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development. At neuropathological examination, a 4-layered cortex consists of an upper molecular layer, a second thin cellular layer containing pyramidal neurons usually observed in layer V, a third pale poorly cellular layer and a fourth thick deep layer made up of neurons which had failed to migrate. Radiologocally would manifest as agyria or pachygyria with cortical thickness greater than 10 mm." [http://www.wikidata.org/entity/Q90573458, https://orcid.org/0000-0002-0736-9199, PMID:28440899]
synonym: "Classic lissencephaly" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Four-layered lissencephaly" EXACT []
synonym: "Lissencephaly, type I" EXACT []
synonym: "Type 1 lissencephaly" EXACT []
synonym: "Type I lissencephaly" EXACT []
xref: SNOMEDCT_US:253147000
xref: UMLS:C0431375
is_a: HP:0001339 ! Lissencephaly

[Term]
id: HP:0006821
name: Frontal polymicrogyria
def: "A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum." [http://www.wikidata.org/entity/Q90573458, PMID:20301504]
synonym: "Polymicrogyria, anterior to posterior gradient" EXACT []
xref: UMLS:C1847356
is_a: HP:0002126 ! Polymicrogyria

[Term]
id: HP:0006824
name: Cranial nerve paralysis
alt_id: HP:0001353
alt_id: HP:0002377
synonym: "Cranial nerve palsies" EXACT []
synonym: "Cranial nerve palsy" EXACT []
synonym: "Cranial nerve paresis" EXACT []
xref: SNOMEDCT_US:73013002
xref: UMLS:C0151311
xref: UMLS:C4025709
is_a: HP:0031910 ! Abnormal cranial nerve physiology

[Term]
id: HP:0006825
name: Pallor of dorsal columns of the spinal cord
def: "An abnormally pale appearance of the dorsal portion of the gray substance of the spinal cord. This finding can be observed by histological examination." []
xref: UMLS:C1865416
is_a: HP:0011397 ! Abnormality of the dorsal column of the spinal cord

[Term]
id: HP:0006827
name: Atrophy of the spinal cord
synonym: "Degeneration of the spinal cord" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1389102
is_a: HP:0007344 ! Atrophy/Degeneration involving the spinal cord

[Term]
id: HP:0006829
name: Severe muscular hypotonia
alt_id: HP:0002347
def: "A severe degree of muscular hypotonia characterized by markedly reduced muscle tone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypotonia, severe" EXACT []
synonym: "Severely decreased muscle tone" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1839630
is_a: HP:0001252 ! Hypotonia

[Term]
id: HP:0006830
name: obsolete Severe neonatal hypotonia in males
is_obsolete: true
consider: HP:0001319

[Term]
id: HP:0006834
name: Developmental stagnation at onset of seizures
def: "A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1836829
is_a: HP:0007281 ! Developmental stagnation

[Term]
id: HP:0006837
name: Congenital Horner syndrome
def: "A type of Horner syndrome with congenital onset." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1840475
is_a: HP:0002277 ! Horner syndrome

[Term]
id: HP:0006844
name: Absent patellar reflexes
def: "Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent knee jerk reflex" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:274817009
xref: UMLS:C0558844
is_a: HP:0002522 ! Areflexia of lower limbs

[Term]
id: HP:0006846
name: Acute encephalopathy
xref: SNOMEDCT_US:2776000
xref: UMLS:C1306587
is_a: HP:0001298 ! Encephalopathy

[Term]
id: HP:0006849
name: Hypodysplasia of the corpus callosum
def: "Developmental defect characterized by a small and malformed corpus callosum." []
xref: UMLS:C1850348
is_a: HP:0002079 ! Hypoplasia of the corpus callosum

[Term]
id: HP:0006850
name: Hypoplasia of the ventral pons
def: "Underdevelopment of the ventral portion of the pons." [https://orcid.org/0000-0002-0736-9199]
synonym: "Underdeveloped ventral pons" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1843507
is_a: HP:0012110 ! Hypoplasia of the pons

[Term]
id: HP:0006851
name: Symmetric spinal nerve root neurofibromas
def: "Multiple neurofibromas of the spinal nerve roots with a symmetric distribution." [https://orcid.org/0000-0002-0736-9199]
synonym: "Spinal nerve root neurofibromas, symmetric, multiple" EXACT []
xref: UMLS:C1834236
is_a: HP:0009735 ! Spinal neurofibroma

[Term]
id: HP:0006852
name: Episodic generalized hypotonia
def: "The occurrence of repeated episodes of generalized muscular hypotonia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Episodic generalised hypotonia" EXACT uk_spelling []
xref: UMLS:C4024976
is_a: HP:0001290 ! Generalized hypotonia

[Term]
id: HP:0006855
name: Cerebellar vermis atrophy
alt_id: HP:0007121
alt_id: HP:0007312
def: "Wasting (atrophy) of the vermis of cerebellum." [https://orcid.org/0000-0002-0736-9199]
comment: This sign can be visualized with brain MRI.
synonym: "Atrophy of cerebellar vermis" EXACT []
synonym: "Atrophy of the cerebellar vermis" EXACT []
synonym: "Vermian atrophy" EXACT []
xref: UMLS:C0742028
is_a: HP:0001272 ! Cerebellar atrophy
is_a: HP:0002334 ! Abnormal cerebellar vermis morphology

[Term]
id: HP:0006858
name: Impaired distal proprioception
alt_id: HP:0007056
alt_id: HP:0007148
def: "A loss or impairment of the sensation of the relative position of parts of the body and joint position occurring at distal joints." [https://orcid.org/0000-0002-0736-9199]
synonym: "Distal sensory loss of proprioception" EXACT []
xref: UMLS:C4021585
is_a: HP:0002936 ! Distal sensory impairment
is_a: HP:0010831 ! Impaired proprioception

[Term]
id: HP:0006859
name: Posterior leukoencephalopathy
xref: UMLS:C4024975
is_a: HP:0002352 ! Leukoencephalopathy

[Term]
id: HP:0006863
name: Severe expressive language delay
def: "A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts." [https://orcid.org/0000-0002-6410-0882]
xref: SNOMEDCT_US:62221000119105
xref: UMLS:C1851085
is_a: HP:0002474 ! Expressive language delay

[Term]
id: HP:0006865
name: Sensorimotor polyneuropathy affecting arms more than legs
xref: UMLS:C4024974
is_a: HP:0009830 ! Peripheral neuropathy

[Term]
id: HP:0006866
name: Midline central nervous system lipomas
synonym: "Midline CNS lipomas" EXACT abbreviation []
xref: UMLS:C4024973
is_a: HP:0100251 ! Multiple central nervous system lipomas

[Term]
id: HP:0006870
name: Lobar holoprosencephaly
def: "A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally." [HPO_CONTRIBUTOR:GC_HPE]
xref: SNOMEDCT_US:253136007
xref: UMLS:C0431362
is_a: HP:0001360 ! Holoprosencephaly

[Term]
id: HP:0006872
name: Cerebral hypoplasia
alt_id: HP:0001322
def: "Underdevelopment of the cerebrum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small cerebrum" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Underdeveloped cerebrum" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1855330
is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum

[Term]
id: HP:0006873
name: Symmetrical progressive peripheral demyelination
def: "A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024972
is_a: HP:0007262 ! Symmetric peripheral demyelination

[Term]
id: HP:0006877
name: obsolete Mental retardation, in some
is_obsolete: true
replaced_by: HP:0001249

[Term]
id: HP:0006879
name: Pontocerebellar atrophy
def: "Atrophy affecting the pons and the cerebellum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cerebellopontine atrophy" EXACT []
xref: UMLS:C1853766
is_a: HP:0001272 ! Cerebellar atrophy
is_a: HP:0007361 ! Abnormal pons morphology

[Term]
id: HP:0006880
name: Cerebellar hemangioblastoma
alt_id: HP:0006761
def: "A hemangioblastoma of the cerebellum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hemangioblastoma, sporadic cerebellar" EXACT []
xref: NCIT:C3801
xref: UMLS:C1332900
is_a: HP:0001317 ! Abnormal cerebellum morphology
is_a: HP:0010797 ! Hemangioblastoma

[Term]
id: HP:0006881
name: Diffuse peripheral demyelination
def: "A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024971
is_a: HP:0011096 ! Peripheral demyelination

[Term]
id: HP:0006882
name: Severe hydrocephalus
xref: UMLS:C3278123
is_a: HP:0000238 ! Hydrocephalus

[Term]
id: HP:0006886
name: Impaired distal vibration sensation
def: "A decrease in the ability to perceive vibration in the distal portions of the limbs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased distal vibration sense" EXACT []
xref: UMLS:C1853767
is_a: HP:0002495 ! Impaired vibratory sensation

[Term]
id: HP:0006887
name: Intellectual disability, progressive
alt_id: HP:0001261
alt_id: HP:0006924
alt_id: HP:0007025
alt_id: HP:0007044
alt_id: HP:0007243
def: "The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time." [https://orcid.org/0000-0002-0736-9199]
synonym: "Intellectual disability, progressive" EXACT layperson []
synonym: "Mental retardation, progressive" EXACT layperson []
synonym: "Progressive mental retardation" EXACT layperson []
xref: UMLS:C1846149
is_a: HP:0001249 ! Intellectual disability

[Term]
id: HP:0006888
name: Meningoencephalocele
xref: SNOMEDCT_US:52330001
xref: UMLS:C0266456
is_a: HP:0002084 ! Encephalocele

[Term]
id: HP:0006889
name: Intellectual disability, borderline
def: "Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85." [https://orcid.org/0000-0002-0736-9199, PMID:20537050]
comment: We choose to define the concept of borderline intellectual disability onthe basis of the commonly used range of 70-85 (IQ), but note that in DSM-5, IQ boundaries are no longer part of the classification.
synonym: "Intellectual disability, borderline" EXACT layperson []
synonym: "Mental retardation, borderline" EXACT layperson []
xref: SNOMEDCT_US:77287004
xref: UMLS:C0006009
is_a: HP:0001249 ! Intellectual disability

[Term]
id: HP:0006891
name: Thick cerebral cortex
xref: UMLS:C4024970
is_a: HP:0002538 ! Abnormal cerebral cortex morphology

[Term]
id: HP:0006892
name: Frontotemporal cerebral atrophy
def: "Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cerebral atrophy, frontotemporal" EXACT []
xref: UMLS:C4021584
is_a: HP:0002059 ! Cerebral atrophy

[Term]
id: HP:0006893
name: obsolete Severely dysplastic cerebellum
comment: Use Cerebellar dysplasia (HP:0007033) with the modifier Severe.
is_obsolete: true
replaced_by: HP:0007033

[Term]
id: HP:0006894
name: Hypoplastic olfactory lobes
xref: UMLS:C1859231
is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system
is_a: HP:0025057 ! Abnormal olfactory lobe morphology

[Term]
id: HP:0006895
name: Lower limb hypertonia
xref: UMLS:C1845245
is_a: HP:0002509 ! Limb hypertonia

[Term]
id: HP:0006896
name: Hypnopompic hallucination
def: "Brief hallucinations that occur as you wake up in the morning, in a state that falls somewhere between dreaming and being fully awake." [PMID:27872259]
synonym: "Hallucinations while awaking" EXACT []
xref: SNOMEDCT_US:69690008
xref: UMLS:C0424082
is_a: HP:0000738 ! Hallucinations
is_a: HP:5200297 ! Abnormal hypnopompia
property_value: terms:contributor https://orcid.org/0000-0001-7062-8192
property_value: terms:contributor https://orcid.org/0000-0001-7941-2961
property_value: terms:contributor https://orcid.org/0000-0001-9221-9226
property_value: terms:contributor https://orcid.org/0000-0002-0183-1637
property_value: terms:contributor https://orcid.org/0000-0003-1785-7126
property_value: terms:contributor https://orcid.org/0000-0003-2291-6952
property_value: terms:contributor https://orcid.org/0000-0003-4958-6025

[Term]
id: HP:0006897
name: Abducens palsy
alt_id: HP:0011349
def: "Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia." [PMID:29489275]
comment: Affected individuals may experience diplopia as well as esotropia or convergent strabismus.
synonym: "Abducens nerve palsy" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Abducens nerve paralysis" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Abducens nerve paresis" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Cranial nerve VI palsy" EXACT []
synonym: "Lateral rectus muscle denervation paresis" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Sixth nerve palsy" EXACT []
xref: SNOMEDCT_US:398760006
xref: SNOMEDCT_US:398925009
xref: SNOMEDCT_US:398963001
xref: UMLS:C0271355
is_a: HP:0006824 ! Cranial nerve paralysis

[Term]
id: HP:0006899
name: Fusion of the cerebellar hemispheres
xref: UMLS:C1866131
is_a: HP:0001317 ! Abnormal cerebellum morphology

[Term]
id: HP:0006901
name: obsolete Impaired thermal sensitivity
is_obsolete: true
replaced_by: HP:0010829

[Term]
id: HP:0006903
name: Congenital peripheral neuropathy
xref: UMLS:C4024967
is_a: HP:0009830 ! Peripheral neuropathy

[Term]
id: HP:0006904
name: Late-onset spinocerebellar degeneration
xref: UMLS:C1856604
is_a: HP:0002503 ! Spinocerebellar tract degeneration

[Term]
id: HP:0006906
name: Congenital intracerebral calcification
def: "The presence of calcium deposition within brain structures that is present already at the time of birth." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024966
is_a: HP:0002514 ! Cerebral calcification

[Term]
id: HP:0006913
name: Frontal cortical atrophy
def: "Atrophy of the frontal cortex." [https://orcid.org/0000-0002-0736-9199]
synonym: "Frontal cortex degeneration" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024965
is_a: HP:0002120 ! Cerebral cortical atrophy

[Term]
id: HP:0006915
name: Inability to walk by childhood/adolescence
synonym: "Inability to walk by childhood/adolescence" EXACT layperson []
xref: UMLS:C1859200
is_a: HP:0002540 ! Inability to walk

[Term]
id: HP:0006916
name: Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material
def: "Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons." [https://orcid.org/0000-0002-0736-9199]
synonym: "Intraaxonal accumulation of curvilinear profiles" RELATED []
xref: UMLS:C1832339
xref: UMLS:C4024964
is_a: HP:0003205 ! Curvilinear intracellular accumulation of autofluorescent lipopigment storage material

[Term]
id: HP:0006918
name: Diffuse cerebral sclerosis
xref: SNOMEDCT_US:49692006
xref: UMLS:C0007795
is_a: HP:0002060 ! Abnormal cerebral morphology

[Term]
id: HP:0006919
name: obsolete Abnormal aggressive, impulsive or violent behavior
is_obsolete: true
replaced_by: HP:0000718

[Term]
id: HP:0006921
name: Axial muscle stiffness
def: "Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024962
is_a: HP:0003552 ! Muscle stiffness
is_a: HP:0040286 ! Abnormal axial muscle morphology

[Term]
id: HP:0006926
name: obsolete Metachromatic leukodystrophy variant
is_obsolete: true
replaced_by: HP:0002415

[Term]
id: HP:0006927
name: Unilateral polymicrogyria
def: "Excessive number of small gyri (convolutions) on the surface of one side of the brain." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:715905006
xref: UMLS:C4024960
is_a: HP:0002126 ! Polymicrogyria

[Term]
id: HP:0006929
name: Hypoglycemic encephalopathy
def: "Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:64624009
xref: UMLS:C0149877
is_a: HP:0001298 ! Encephalopathy

[Term]
id: HP:0006930
name: Frontoparietal cortical dysplasia
def: "The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024959
is_a: HP:0002539 ! Cortical dysplasia

[Term]
id: HP:0006931
name: Pericallosal lipoma
def: "Pericallosal lipomas are congenital soft masses of adipose cells encapsulated by a thin layer of fibrous tissue, appearing adjacent to the corpus callosum of the brain." [https://orcid.org/0000-0002-3302-4610, PMID:30104143]
synonym: "Lipoma of corpus callosum" EXACT []
xref: UMLS:C1333160
is_a: HP:0001273 ! Abnormal corpus callosum morphology
is_a: HP:0006866 ! Midline central nervous system lipomas

[Term]
id: HP:0006932
name: Transient psychotic episodes
def: "Relatively short-lived periods of psychosis are characterized by the sudden onset of severe disturbances in perception, thinking, and behavior. These episodes typically last for a brief duration, generally ranging from a few days to a few weeks, and are often triggered by a significant stressor or traumatic event." []
synonym: "Brief psychotic episodes" EXACT []
synonym: "Brief reactive psychosis" EXACT []
xref: UMLS:C4024958
is_a: HP:5200430 ! Abnormal psychotic pattern
property_value: terms:contributor https://orcid.org/0000-0001-7062-8192
property_value: terms:contributor https://orcid.org/0000-0001-7941-2961
property_value: terms:contributor https://orcid.org/0000-0001-9221-9226
property_value: terms:contributor https://orcid.org/0000-0002-0183-1637
property_value: terms:contributor https://orcid.org/0000-0003-1785-7126
property_value: terms:contributor https://orcid.org/0000-0003-2291-6952
property_value: terms:contributor https://orcid.org/0000-0003-4958-6025

[Term]
id: HP:0006934
name: Congenital nystagmus
def: "Nystagmus dating from or present at birth." [https://orcid.org/0000-0002-0736-9199]
synonym: "Nystagmus, congenital" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:64635004
xref: UMLS:C0700501
is_a: HP:0000639 ! Nystagmus

[Term]
id: HP:0006937
name: Impaired distal tactile sensation
alt_id: HP:0006981
def: "A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased distal touch sense" EXACT []
synonym: "Decreased touch sensation in extremities" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C4021583
is_a: HP:0002936 ! Distal sensory impairment
is_a: HP:0010830 ! Impaired tactile sensation

[Term]
id: HP:0006938
name: Impaired vibration sensation at ankles
alt_id: HP:0007144
def: "A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased vibration sense at ankles" EXACT layperson []
synonym: "Decreased vibration sense in feet" EXACT layperson []
synonym: "Impaired vibration sensation at ankles" EXACT layperson []
xref: UMLS:C1854372
is_a: HP:0002166 ! Impaired vibration sensation in the lower limbs
is_a: HP:0006886 ! Impaired distal vibration sensation

[Term]
id: HP:0006943
name: Diffuse spongiform leukoencephalopathy
xref: UMLS:C1858857
is_a: HP:0002352 ! Leukoencephalopathy

[Term]
id: HP:0006944
name: Abolished vibration sense
def: "A complete loss of the ability to perceive vibration." [https://orcid.org/0000-0002-0736-9199]
synonym: "Apallesthesia" EXACT []
xref: UMLS:C1837520
is_a: HP:0002495 ! Impaired vibratory sensation

[Term]
id: HP:0006946
name: Recurrent meningitis
def: "An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C0746495
is_a: HP:0011450 ! Unusual CNS infection

[Term]
id: HP:0006949
name: Episodic peripheral neuropathy
xref: UMLS:C1848695
is_a: HP:0009830 ! Peripheral neuropathy

[Term]
id: HP:0006951
name: Retrocerebellar cyst
xref: UMLS:C1845370
is_a: HP:0002350 ! Cerebellar cyst

[Term]
id: HP:0006955
name: Olivopontocerebellar hypoplasia
alt_id: HP:0007168
def: "Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1859341
is_a: HP:0001321 ! Cerebellar hypoplasia
is_a: HP:0012110 ! Hypoplasia of the pons

[Term]
id: HP:0006956
name: Lateral ventricle dilatation
alt_id: HP:0006796
alt_id: HP:0006945
alt_id: HP:0007173
synonym: "Dilatation of lateral cerebral ventricles" EXACT []
synonym: "Dilation of lateral ventricles" EXACT []
synonym: "Enlarged lateral ventricles" EXACT []
synonym: "Lateral ventricle dilatation" EXACT []
xref: UMLS:C1856409
is_a: HP:0002119 ! Ventriculomegaly
is_a: HP:0030047 ! Abnormal lateral ventricle morphology

[Term]
id: HP:0006957
name: obsolete Loss of ability to walk
is_obsolete: true
replaced_by: HP:0002505

[Term]
id: HP:0006958
name: Abnormal auditory evoked potentials
alt_id: HP:0003151
alt_id: HP:0004462
alt_id: HP:0006923
def: "An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex." [https://orcid.org/0000-0002-0736-9199]
comment: Auditory brainstem response audiometry typically uses a click stimulus that generates a response from the basilar region of the cochlea.
synonym: "Abnormal brainstem auditory-evoked potentials" EXACT []
xref: SNOMEDCT_US:102971006
xref: UMLS:C0522216
is_a: HP:0030177 ! Abnormality of peripheral nervous system electrophysiology
is_a: HP:0430106 ! Abnormal brain-evoked potentials

[Term]
id: HP:0006959
name: Proximal spinal muscular atrophy
def: "Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024957
is_a: HP:0007269 ! Spinal muscular atrophy

[Term]
id: HP:0006960
name: Choroid plexus calcification
def: "The presence of calcium deposition in the choroid plexus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Calcified choroid plexus" EXACT []
xref: UMLS:C1863184
is_a: HP:0007376 ! Abnormal choroid plexus morphology
is_a: HP:0430048 ! Intracranial calcification

[Term]
id: HP:0006961
name: Jerky head movements
synonym: "Head jerking" EXACT layperson []
synonym: "Jerking head movements" EXACT layperson []
xref: UMLS:C1855568
is_a: HP:0002457 ! Abnormal head movements

[Term]
id: HP:0006962
name: Gait instability, worse in the dark
synonym: "Unstable walking, worse in the dark" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1837016
is_a: HP:0002317 ! Unsteady gait

[Term]
id: HP:0006964
name: Cerebral cortical neurodegeneration
xref: UMLS:C1859863
is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum

[Term]
id: HP:0006965
name: Acute necrotizing encephalopathy
xref: UMLS:C1855020
is_a: HP:0006846 ! Acute encephalopathy

[Term]
id: HP:0006970
name: Periventricular leukomalacia
def: "Periventricular leukomalacia is characterized by diffuse injury of deep cerebral white matter, accompanied in its most severe form by focal necrosis. The neuropathologic hallmarks of PVL are microglial activation and focal and diffuse periventricular depletion of premyelinating oligodendroglia." [PMID:16808630, PMID:18852342, PMID:28406931]
comment: Periventricular leukomalacia is the leading known cause of cerebral palsy. Magnetic resonance imaging-based neuroimaging techniques provide greater diagnostic sensitivity for PVL than does head ultrasonography and often document the involvement of telencephalic gray matter and long tracts in addition to periventricular white matter.
synonym: "PVL" EXACT abbreviation []
xref: SNOMEDCT_US:230769007
xref: UMLS:C0023529
is_a: HP:0002518 ! Abnormal periventricular white matter morphology

[Term]
id: HP:0006976
name: Necrotizing encephalopathy
def: "A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue." [HPO_CONTRIBUTOR:KI_phemming, PMID:23705127]
comment: The disease acute necrotizing encephalopathy is characterized by acute onset encephalopathy with rapid, progressive neurologic deterioration, seizures and symmetric multifocal brain lesions. This term is kept for convenience. For new annotations, it is recommended that the specific phenotypic abnormalities be noted.
xref: UMLS:C1396481
is_a: HP:0001298 ! Encephalopathy

[Term]
id: HP:0006977
name: Deficit in grammar
def: "Deficit in grammar, including syntax and morphology." []
synonym: "Grammar-specific speech disorder" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389]
xref: UMLS:C4024956
is_a: HP:0002463 ! Language impairment
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-2592-4715
property_value: terms:contributor https://orcid.org/0000-0002-9593-5508
property_value: terms:contributor https://orcid.org/0000-0003-3777-1389

[Term]
id: HP:0006978
name: Dysmyelinating leukodystrophy
xref: UMLS:C3278204
is_a: HP:0002415 ! Leukodystrophy

[Term]
id: HP:0006979
name: Sleep-wake cycle disturbance
def: "Any abnormality of an individual's circadian rhythm that affects the timing of sleeping and being awake is referred to as a sleep-wake disorder." [PMID:30725708, PMID:36115370, PMID:36872502]
comment: Often, patients complain of insomnia when their desired sleep-wake cycle is inconsistent with their intrinsic rhythms.
synonym: "Internal-clock disorders" EXACT []
synonym: "Sleep phase disturbance" EXACT []
synonym: "Sleep-wake cycle disorders" EXACT []
synonym: "Sleep-wake cycle disturbance" EXACT layperson []
xref: UMLS:C1833362
is_a: HP:0002360 ! Sleep abnormality
property_value: terms:contributor https://orcid.org/0000-0001-6262-8264
property_value: terms:contributor https://orcid.org/0000-0001-9446-5121
property_value: terms:contributor https://orcid.org/0000-0002-1592-0825
property_value: terms:contributor https://orcid.org/0000-0002-4672-4923
property_value: terms:contributor https://orcid.org/0000-0002-5554-6946
property_value: terms:contributor https://orcid.org/0000-0002-7367-663X

[Term]
id: HP:0006980
name: Progressive leukoencephalopathy
def: "Leukoencephalopathy that gets more severe with time." [https://orcid.org/0000-0002-0736-9199]
synonym: "Leukoencephalopathy, progressive" EXACT []
xref: UMLS:C1855010
is_a: HP:0002352 ! Leukoencephalopathy

[Term]
id: HP:0006983
name: obsolete Slowly progressive spastic quadriparesis
is_obsolete: true
replaced_by: HP:0002510

[Term]
id: HP:0006984
name: obsolete Distal sensory loss of all modalities
is_obsolete: true
replaced_by: HP:0003409

[Term]
id: HP:0006986
name: Upper limb spasticity
synonym: "Spastic upper extremities" EXACT []
synonym: "Spastic upper extremity" EXACT []
synonym: "Spastic upper limb" EXACT []
synonym: "Spastic upper limbs" EXACT []
synonym: "Spasticity in upper extremities" EXACT []
synonym: "Spasticity in upper extremity" EXACT []
synonym: "Spasticity in upper limb" EXACT []
synonym: "Spasticity in upper limbs" EXACT []
synonym: "Spasticity of upper extremities" EXACT []
synonym: "Spasticity of upper extremity" EXACT []
synonym: "Spasticity of upper limb" EXACT []
synonym: "Spasticity of upper limbs" EXACT []
synonym: "Uncontrollable movement in upper arms" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Upper extremities spasticity" EXACT []
synonym: "Upper extremity spasticity" EXACT []
xref: SNOMEDCT_US:394680009
xref: UMLS:C1273957
is_a: HP:0034353 ! Appendicular spasticity

[Term]
id: HP:0006988
name: Alobar holoprosencephaly
def: "A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged." [HPO_CONTRIBUTOR:GC_HPE]
xref: SNOMEDCT_US:253137003
xref: UMLS:C0431363
is_a: HP:0001360 ! Holoprosencephaly

[Term]
id: HP:0006989
name: Dysplastic corpus callosum
alt_id: HP:0006996
def: "Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium." [https://orcid.org/0000-0002-0736-9199, PMID:21263138]
synonym: "Dysgenesis of corpus callosum" EXACT []
synonym: "Dysplasia of corpus callosum" EXACT []
xref: UMLS:C0431369
is_a: HP:0001273 ! Abnormal corpus callosum morphology

[Term]
id: HP:0006990
name: Myelin-dependent gliosis
def: "A type of gliosis that occurs in the vicinity of injured neurons." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024954
is_a: HP:0002171 ! Gliosis

[Term]
id: HP:0006992
name: Anterior basal encephalocele
xref: UMLS:C1850961
is_a: HP:0007035 ! Anterior encephalocele

[Term]
id: HP:0006994
name: Diffuse leukoencephalopathy
xref: UMLS:C1868514
is_a: HP:0002352 ! Leukoencephalopathy

[Term]
id: HP:0006999
name: Basal ganglia gliosis
def: "Focal proliferation of glial cells in the basal ganglia." [https://orcid.org/0000-0002-0736-9199]
comment: Gliosis refers to a proliferation of astrocytes in an area of damage of nervous tissue.
synonym: "Gliosis in the basal ganglia" EXACT []
xref: UMLS:C1864114
xref: UMLS:C2750915
is_a: HP:0002134 ! Abnormal basal ganglia morphology
is_a: HP:0002171 ! Gliosis

[Term]
id: HP:0007000
name: Morning myoclonic jerks
xref: UMLS:C1847164
is_a: HP:0001336 ! Myoclonus

[Term]
id: HP:0007001
name: Loss of Purkinje cells in the cerebellar vermis
xref: UMLS:C1849146
is_a: HP:0002334 ! Abnormal cerebellar vermis morphology

[Term]
id: HP:0007002
name: Motor axonal neuropathy
alt_id: HP:0007349
def: "Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg." [https://orcid.org/0000-0002-0736-9199]
comment: Distal motor neuropathy is a bundled term that should not be used if more detailed information about the phenotype is available.
synonym: "Distal motor neuropathy" RELATED []
synonym: "Length dependent motor neuropathy" RELATED []
xref: UMLS:C1854570
xref: UMLS:C2749625
xref: UMLS:C4020811
is_a: HP:0003477 ! Peripheral axonal neuropathy

[Term]
id: HP:0007006
name: Dorsal column degeneration
xref: UMLS:C4024953
is_a: HP:0011397 ! Abnormality of the dorsal column of the spinal cord

[Term]
id: HP:0007007
name: Cavitation of the basal ganglia
alt_id: HP:0007246
def: "The formation of small cavities in the tissue of the basal ganglia." [https://orcid.org/0000-0002-0736-9199, PMID:8516046]
comment: This feature can be observed in tissue upon autopsy or in magnetic resonance tomography (MRI) images.
xref: UMLS:C4024952
is_a: HP:0002134 ! Abnormal basal ganglia morphology

[Term]
id: HP:0007009
name: Central nervous system degeneration
synonym: "CNS degeneration" EXACT abbreviation []
xref: UMLS:C3277687
is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system

[Term]
id: HP:0007010
name: Poor fine motor coordination
def: "An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes." []
synonym: "Fine motor disability" EXACT []
synonym: "Fine motor impairment" EXACT []
synonym: "Fine motor skill dysfunction" EXACT []
synonym: "Impaired fine motor skills" EXACT []
xref: UMLS:C1867864
is_a: HP:0002275 ! Poor motor coordination

[Term]
id: HP:0007011
name: Fourth cranial nerve palsy
def: "Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly." [https://orcid.org/0000-0001-5208-3432]
comment: The fourth cranial nerve crosses as it exits the midbrain dorsally and may be injured along its course through the intracranial space, cavernous sinus, superior orbital fissure, or orbit.
synonym: "Trochlear nerve palsy" EXACT []
xref: SNOMEDCT_US:20610004
xref: UMLS:C0271375
is_a: HP:0006824 ! Cranial nerve paralysis

[Term]
id: HP:0007015
name: Poor gross motor coordination
def: "An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts." []
synonym: "Gross motor impairment" EXACT []
xref: UMLS:C1867863
is_a: HP:0002275 ! Poor motor coordination

[Term]
id: HP:0007016
name: Corticospinal tract hypoplasia
xref: UMLS:C1844007
is_a: HP:0007365 ! Aplasia/Hypoplasia involving the corticospinal tracts

[Term]
id: HP:0007017
name: Progressive forgetfulness
synonym: "Forgetfullness" BROAD layperson []
xref: UMLS:C3277688
is_a: HP:0002354 ! Memory impairment

[Term]
id: HP:0007018
name: Attention deficit hyperactivity disorder
alt_id: HP:0001576
alt_id: HP:0001577
alt_id: HP:0006973
def: "Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient." [https://orcid.org/0000-0002-0736-9199]
synonym: "ADHD" EXACT abbreviation []
synonym: "Attention deficit" EXACT layperson []
synonym: "Attention deficit disorder" EXACT layperson []
synonym: "Attention deficit-hyperactivity disorder" EXACT layperson []
synonym: "Attention deficits" EXACT layperson []
synonym: "Childhood attention deficit/hyperactivity disorder" EXACT layperson []
xref: SNOMEDCT_US:406506008
xref: SNOMEDCT_US:7461003
xref: UMLS:C1263846
is_a: HP:0000736 ! Short attention span
is_a: HP:0000752 ! Hyperactivity

[Term]
id: HP:0007020
name: Progressive spastic paraplegia
alt_id: HP:0006875
alt_id: HP:0007255
xref: UMLS:C1855483
is_a: HP:0001258 ! Spastic paraplegia

[Term]
id: HP:0007021
name: Pain insensitivity
alt_id: HP:0003404
def: "Inability to perceive painful stimuli." [https://orcid.org/0000-0002-0736-9199]
comment: The word Anesthesia is occasionally used to refer to lack of pain sensation, although it is more usually used to denote a medical procedure design to relieve pain.
synonym: "Absence of pain sensation" EXACT []
xref: SNOMEDCT_US:38433004
xref: UMLS:C0344307
is_a: HP:0007328 ! Impaired pain sensation

[Term]
id: HP:0007023
name: Antenatal intracerebral hemorrhage
def: "Cerebral hemorrhage that occurs before birth." [https://orcid.org/0000-0002-0736-9199]
synonym: "Antenatal intracerebral haemorrhage" EXACT uk_spelling []
xref: UMLS:C1837247
is_a: HP:0001342 ! Cerebral hemorrhage

[Term]
id: HP:0007024
name: Pseudobulbar paralysis
alt_id: HP:0002201
alt_id: HP:0006819
def: "Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing." [https://orcid.org/0009-0006-4530-3154]
synonym: "Pseudobulbar palsy" EXACT []
synonym: "Pseudobulbar syndrome" EXACT []
xref: SNOMEDCT_US:7379000
xref: UMLS:C0033790
is_a: HP:0001260 ! Dysarthria
is_a: HP:0001618 ! Dysphonia
is_a: HP:0002015 ! Dysphagia
is_a: HP:0002200 ! Pseudobulbar signs
is_a: HP:0003470 ! Paralysis

[Term]
id: HP:0007027
name: Poorly formed metencephalon
def: "A morphological abnormality of the metencephalon." [https://orcid.org/0000-0002-0736-9199]
comment: The metencephalon comprises the pons and the cerebellum; contains a portion of the fourth ventricle; and the trigeminal nerve, abducens nerve, facial nerve, and a portion of the vestibulocochlear nerve. The metencephalon is part of the hindbrain.
xref: UMLS:C4024951
is_a: HP:0011283 ! Abnormal metencephalon morphology

[Term]
id: HP:0007029
name: Cerebral berry aneurysm
def: "A small, sac-like aneurysm (outpouching) of a cerebral blood vessel." [https://orcid.org/0000-0002-0736-9199]
comment: Saccular aneurysms are often said to have a berry-shaped appearance, whence the name.
synonym: "Cerebral saccular aneurysm" EXACT []
xref: SNOMEDCT_US:54002007
xref: UMLS:C2713497
is_a: HP:0004944 ! Dilatation of the cerebral artery

[Term]
id: HP:0007030
name: Nonprogressive encephalopathy
xref: UMLS:C4024950
is_a: HP:0001298 ! Encephalopathy

[Term]
id: HP:0007033
name: Cerebellar dysplasia
alt_id: HP:0006893
def: "Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts." [https://orcid.org/0000-0002-0736-9199, PMID:25105227, PMID:27160001]
comment: Any part of the cerebellum can be dysplastic, from small focal regions within one hemisphere to abnormal foliation throughout the cerebellum. Hypoplastic cerebella are frequently also dysmorphic, as observed in tubulinopathies and cobblestone malformations.
xref: UMLS:C3278322
is_a: HP:0001317 ! Abnormal cerebellum morphology

[Term]
id: HP:0007034
name: Generalized hyperreflexia
synonym: "Generalised hyperreflexia" EXACT uk_spelling []
xref: UMLS:C4024949
is_a: HP:0001347 ! Hyperreflexia

[Term]
id: HP:0007035
name: Anterior encephalocele
def: "A type of congenital malformation in which brain tissue protrudes through a defect in the anterior (front) part of the skull." [PMID:22069427, PMID:32965839]
comment: Anterior encephalocele development occurs from abnormal development of the foramen cecum. A diverticulum of dura usually projects anteriorly between the developing nasal and frontal bones at the fonticulus frontalis/foramen cecum. Later in embryogenesis, the diverticulum regresses, and the bone closes. However, if it does not regress, the brain can herniate through the bone defect and form an encephalocele.
synonym: "Sincipital encephalocele" EXACT []
xref: UMLS:C4024948
is_a: HP:0002084 ! Encephalocele

[Term]
id: HP:0007036
name: Hypoplasia of olfactory tract
synonym: "Underdeveloped olfactory tract" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1856655
is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system

[Term]
id: HP:0007039
name: Symmetric T2-signal increase with T1-signal decrease in the putamen
def: "A symmetric magnetic resonance imaing (MRI) abnormality of the basal ganglia characterized by an increase of signal intensity in T2-weighted images and a corresponding signal decrease on T1-weighted images." [PMID:15210883]
comment: Pathological processes characterized by increased tissue water content show signal loss on T1-weighted images and a signal increase on T2-weighted images.
xref: UMLS:C4024947
is_a: HP:0002134 ! Abnormal basal ganglia morphology

[Term]
id: HP:0007041
name: Chronic lymphocytic meningitis
def: "Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF)." [PMID:27608867]
xref: SNOMEDCT_US:230154004
xref: UMLS:C0393441
is_a: HP:0001287 ! Meningitis

[Term]
id: HP:0007042
name: Focal white matter lesions
xref: UMLS:C4024946
is_a: HP:0002500 ! Abnormal cerebral white matter morphology
property_value: terms:creator https://orcid.org/0000-0002-5316-1399

[Term]
id: HP:0007045
name: Midline brain calcifications
xref: UMLS:C1855487
is_a: HP:0002514 ! Cerebral calcification

[Term]
id: HP:0007047
name: Atrophy of the dentate nucleus
def: "Partial or complete wasting (loss) of dentate nucleus." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1857788
is_a: HP:0100321 ! Abnormal dentate nucleus morphology

[Term]
id: HP:0007048
name: Large basal ganglia
def: "Increased size of the basal ganglia." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1859470
is_a: HP:0002134 ! Abnormal basal ganglia morphology

[Term]
id: HP:0007052
name: Multifocal cerebral white matter abnormalities
xref: UMLS:C1833434
is_a: HP:0002500 ! Abnormal cerebral white matter morphology
property_value: terms:creator https://orcid.org/0000-0002-5316-1399

[Term]
id: HP:0007054
name: Proximal hyperreflexia
def: "Hyperactive stretch reflexes of muscles that move proximal joints (elbow, knee)." []
synonym: "Hyperreflexia proximally" EXACT []
xref: UMLS:C1836012
is_a: HP:0001347 ! Hyperreflexia

[Term]
id: HP:0007057
name: Poor hand-eye coordination
xref: UMLS:C1845864
is_a: HP:0002370 ! Poor coordination

[Term]
id: HP:0007058
name: Generalized cerebral atrophy/hypoplasia
def: "Generalized atrophy or hypoplasia of the cerebrum." [https://orcid.org/0009-0006-4530-3154]
synonym: "Generalised cerebral atrophy/hypoplasia" EXACT uk_spelling []
synonym: "Generalised cerebral degeneration/underdevelopment" EXACT uk_spelling []
synonym: "Generalized cerebral degeneration/underdevelopment" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024945
is_a: HP:0002059 ! Cerebral atrophy

[Term]
id: HP:0007063
name: Aplasia of the inferior half of the cerebellar vermis
synonym: "Absent inferior half of the cerebellar vermis" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1857787
is_a: HP:0006817 ! Aplasia/Hypoplasia of the cerebellar vermis

[Term]
id: HP:0007064
name: Progressive language deterioration
def: "Progressive loss of previously present language abilities." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1843793
is_a: HP:0002344 ! Progressive neurologic deterioration

[Term]
id: HP:0007065
name: Disorganization of the anterior cerebellar vermis
synonym: "Disorganisation of the anterior cerebellar vermis" EXACT uk_spelling []
xref: UMLS:C1845369
is_a: HP:0002334 ! Abnormal cerebellar vermis morphology

[Term]
id: HP:0007066
name: Proximal limb muscle stiffness
def: "Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in the proximal limb muscle." [https://orcid.org/0000-0001-5208-3432]
comment: Removed logical definition that used an anonymous class. Requested new term in UBERON: proximal musculature of limb
xref: UMLS:C1861460
is_a: HP:0003552 ! Muscle stiffness
is_a: HP:0009127 ! Abnormality of the musculature of the limbs

[Term]
id: HP:0007067
name: Distal peripheral sensory neuropathy
def: "Peripheral sensory neuropathy affecting primarily distal sensation." [https://orcid.org/0000-0002-0736-9199]
synonym: "Peripheral sensory neuropathy, distal" EXACT []
xref: UMLS:C4021582
is_a: HP:0000763 ! Sensory neuropathy

[Term]
id: HP:0007068
name: Inferior cerebellar vermis hypoplasia
alt_id: HP:0005724
def: "Underdevelopment of the inferior portion of the vermis of cerebellum." [https://orcid.org/0000-0002-0736-9199, PMID:16580298]
synonym: "Hypoplasia of inferior vermis" EXACT []
synonym: "Inferior vermis hypoplasia" EXACT []
xref: UMLS:C1855350
is_a: HP:0001320 ! Cerebellar vermis hypoplasia

[Term]
id: HP:0007069
name: Profound static encephalopathy
xref: UMLS:C4024944
is_a: HP:0007030 ! Nonprogressive encephalopathy

[Term]
id: HP:0007074
name: Thick corpus callosum
alt_id: HP:0006805
alt_id: HP:0006807
alt_id: HP:0200009
alt_id: HP:0200010
def: "Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain." [HPO_CONTRIBUTOR:KI_phemming, PMID:10029348]
synonym: "Abnormal size of corpus callosum" EXACT []
synonym: "Large corpus callosum" EXACT []
xref: UMLS:C1835194
is_a: HP:0001273 ! Abnormal corpus callosum morphology

[Term]
id: HP:0007076
name: Extrapyramidal muscular rigidity
def: "Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement)." [https://orcid.org/0000-0002-0736-9199]
comment: This is a classic type of extrapyramidal movement disorder.
xref: UMLS:C1852470
is_a: HP:0002063 ! Rigidity
is_a: HP:0002071 ! Abnormality of extrapyramidal motor function

[Term]
id: HP:0007078
name: Decreased amplitude of sensory action potentials
def: "A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024943
is_a: HP:0030179 ! Abnormal peripheral action potential amplitude

[Term]
id: HP:0007081
name: obsolete Late-onset muscular dystrophy
is_obsolete: true
replaced_by: HP:0003560

[Term]
id: HP:0007082
name: Dilated third ventricle
def: "An increase in size of the third ventricle." [https://orcid.org/0000-0002-0736-9199]
comment: The third ventricle is midline between the two lateral ventricles, and it communicates between them and the fourth ventricle.
xref: UMLS:C4024941
is_a: HP:0002119 ! Ventriculomegaly
is_a: HP:0010951 ! Abnormal third ventricle morphology

[Term]
id: HP:0007083
name: Hyperactive patellar reflex
synonym: "Brisk knee jerk" RELATED layperson []
synonym: "Hyperreflexia in knees" EXACT []
synonym: "Overactive knee reflex" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C0240116
is_a: HP:0002395 ! Lower limb hyperreflexia
is_a: HP:0007054 ! Proximal hyperreflexia

[Term]
id: HP:0007086
name: Social and occupational deterioration
xref: UMLS:C1866986
is_a: HP:0001268 ! Mental deterioration

[Term]
id: HP:0007087
name: obsolete Involuntary jerking movements
is_obsolete: true
replaced_by: HP:0001336

[Term]
id: HP:0007089
name: Facial-lingual fasciculations
def: "Fasciculations affecting the tongue muscle and the musculature of the face." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1862359
is_a: HP:0002380 ! Fasciculations
is_a: HP:0010546 ! Muscle fibrillation

[Term]
id: HP:0007095
name: obsolete Frontoparietal polymicrogyria
is_obsolete: true
replaced_by: HP:0012650

[Term]
id: HP:0007096
name: Hypoplasia of the optic tract
synonym: "Underdeveloped optic tract" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1856654
is_a: HP:0011000 ! Aplasia/Hypoplasia of the optic tract

[Term]
id: HP:0007097
name: Cranial nerve motor loss
xref: UMLS:C4024940
is_a: HP:0001291 ! Abnormal cranial nerve morphology

[Term]
id: HP:0007098
name: Paroxysmal choreoathetosis
alt_id: HP:0002351
def: "Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements." [https://orcid.org/0000-0002-0736-9199]
synonym: "Choreoathetosis, episodic" EXACT []
synonym: "Choreoathetosis, intermittent" EXACT []
xref: SNOMEDCT_US:49949003
xref: UMLS:C1851936
is_a: HP:0001266 ! Choreoathetosis

[Term]
id: HP:0007099
name: Chiari type I malformation
alt_id: HP:0002440
def: "Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line)" [https://orcid.org/0000-0002-0736-9199, PMID:28613730]
synonym: "Arnold Chiari type I malformation" EXACT []
synonym: "Arnold-Chiari type I malformation" EXACT []
synonym: "Chiari I malformation" EXACT []
xref: SNOMEDCT_US:253185002
xref: UMLS:C0750929
is_a: HP:0002308 ! Chiari malformation

[Term]
id: HP:0007100
name: Progressive ventriculomegaly
xref: UMLS:C1865119
is_a: HP:0002119 ! Ventriculomegaly

[Term]
id: HP:0007103
name: Hypointensity of cerebral white matter on MRI
alt_id: HP:0006804
def: "A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter." [https://orcid.org/0000-0002-0736-9199]
synonym: "White matter hypointensities on MRI" EXACT []
xref: UMLS:C4020908
is_a: HP:0002500 ! Abnormal cerebral white matter morphology
property_value: terms:creator https://orcid.org/0000-0002-5316-1399

[Term]
id: HP:0007104
name: Prolonged somatosensory evoked potentials
xref: UMLS:C4024939
is_a: HP:0007377 ! Abnormality of somatosensory evoked potentials

[Term]
id: HP:0007105
name: Infantile encephalopathy
alt_id: HP:0006948
alt_id: HP:0007309
alt_id: HP:0007353
def: "Encephalopathy with onset in the infantile period." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1856408
is_a: HP:0001298 ! Encephalopathy

[Term]
id: HP:0007107
name: Segmental peripheral demyelination
def: "A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024938
is_a: HP:0011096 ! Peripheral demyelination

[Term]
id: HP:0007108
name: Demyelinating peripheral neuropathy
alt_id: HP:0007205
def: "Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:23414001
xref: UMLS:C0270922
is_a: HP:0009830 ! Peripheral neuropathy
is_a: HP:0012447 ! Abnormal myelination

[Term]
id: HP:0007109
name: Periventricular cysts
xref: UMLS:C1839858
is_a: HP:0002518 ! Abnormal periventricular white matter morphology
is_a: HP:0010576 ! Intracranial cystic lesion

[Term]
id: HP:0007110
name: Central hypoventilation
xref: UMLS:C3805839
is_a: HP:0002791 ! Hypoventilation

[Term]
id: HP:0007111
name: Chronic hepatic encephalopathy
xref: UMLS:C4024937
is_a: HP:0002480 ! Hepatic encephalopathy

[Term]
id: HP:0007112
name: Temporal cortical atrophy
def: "Atrophy of the temporal cortex." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024936
is_a: HP:0002120 ! Cerebral cortical atrophy

[Term]
id: HP:0007115
name: Naso-orbital encephalocele
def: "A type of encephalocele that occurs along the medial orbit wall at the level of the frontal process of the maxilla and the ethmoid-lacrimal bone junction." []
synonym: "Orbital encephalocele" EXACT []
xref: SNOMEDCT_US:15671007
xref: UMLS:C0271330
is_a: HP:0007330 ! Frontoethmoidal encephalocele

[Term]
id: HP:0007117
name: Corticospinal tract atrophy
xref: UMLS:C1838868
is_a: HP:0007372 ! Atrophy/Degeneration involving the corticospinal tracts

[Term]
id: HP:0007123
name: Subcortical dementia
def: "A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change." [https://orcid.org/0000-0002-0736-9199, PMID:4819905]
xref: UMLS:C4024935
is_a: HP:0000726 ! Dementia

[Term]
id: HP:0007126
name: Proximal amyotrophy
alt_id: HP:0006792
alt_id: HP:0006966
alt_id: HP:0008943
alt_id: HP:0008980
alt_id: HP:0009041
def: "Amyotrophy (muscular atrophy) affecting the proximal musculature." [https://orcid.org/0000-0002-0736-9199]
comment: Proximal amyotrophy usually has a roughly symmetric distribution.
synonym: "Muscle atrophy, proximal" EXACT []
synonym: "Proximal muscle atrophy" EXACT []
synonym: "Proximal muscle wasting" EXACT []
synonym: "Symmetric proximal muscular atrophy" EXACT []
synonym: "Symmetrical, proximal limb muscle atrophy" EXACT []
synonym: "Wasting of muscles near the body" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1850794
is_a: HP:0003202 ! Skeletal muscle atrophy

[Term]
id: HP:0007129
name: Cerebellar medulloblastoma
xref: UMLS:C4024934
is_a: HP:0002885 ! Medulloblastoma

[Term]
id: HP:0007131
name: Acute demyelinating polyneuropathy
def: "Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration." [https://orcid.org/0000-0002-0736-9199]
comment: This is a bundled term used to refer to the symptomatology associated with the Guillain-Barre syndrome.
xref: UMLS:C4024933
is_a: HP:0007108 ! Demyelinating peripheral neuropathy

[Term]
id: HP:0007132
name: Pallidal degeneration
def: "Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:230302004
xref: UMLS:C0393577
is_a: HP:0002453 ! Abnormal globus pallidus morphology
is_a: HP:0012157 ! Subcortical cerebral atrophy

[Term]
id: HP:0007133
name: Progressive peripheral neuropathy
alt_id: HP:0007329
synonym: "Progressive polyneuropathy" EXACT []
xref: UMLS:C1859178
is_a: HP:0009830 ! Peripheral neuropathy

[Term]
id: HP:0007141
name: Sensorimotor neuropathy
alt_id: HP:0007055
alt_id: HP:0007237
synonym: "Mixed polyneuropathy" EXACT []
synonym: "Nerve damage causing decreased feeling and movement" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Sensorimotor peripheral neuropathy" EXACT []
xref: UMLS:C1112256
is_a: HP:0009830 ! Peripheral neuropathy

[Term]
id: HP:0007146
name: Bilateral basal ganglia lesions
xref: UMLS:C4024932
is_a: HP:0002134 ! Abnormal basal ganglia morphology

[Term]
id: HP:0007149
name: Distal upper limb amyotrophy
def: "Muscular atrophy of distal arm muscles." [https://orcid.org/0000-0002-0736-9199]
synonym: "Distal upper limb muscle atrophy" EXACT []
xref: UMLS:C4021581
is_a: HP:0003693 ! Distal amyotrophy
is_a: HP:0009129 ! Upper limb amyotrophy

[Term]
id: HP:0007153
name: Progressive extrapyramidal movement disorder
xref: UMLS:C2748610
is_a: HP:0002071 ! Abnormality of extrapyramidal motor function

[Term]
id: HP:0007156
name: Asymmetric limb muscle stiffness
def: "Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024931
is_a: HP:0003552 ! Muscle stiffness
is_a: HP:0009127 ! Abnormality of the musculature of the limbs

[Term]
id: HP:0007158
name: Progressive extrapyramidal muscular rigidity
def: "A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Progressive extrapyramidal rigidity" EXACT []
xref: UMLS:C4021580
is_a: HP:0007076 ! Extrapyramidal muscular rigidity

[Term]
id: HP:0007159
name: Fluctuations in consciousness
def: "Changes in one's level of awareness and responsiveness to their environment." [PMID:32374025, PMID:34557672]
xref: UMLS:C1851959
is_a: HP:0004372 ! Reduced consciousness
property_value: terms:contributor https://orcid.org/0000-0001-6262-8264
property_value: terms:contributor https://orcid.org/0000-0001-9446-5121
property_value: terms:contributor https://orcid.org/0000-0002-1592-0825
property_value: terms:contributor https://orcid.org/0000-0002-4672-4923
property_value: terms:contributor https://orcid.org/0000-0002-5554-6946
property_value: terms:contributor https://orcid.org/0000-0002-7367-663X

[Term]
id: HP:0007162
name: Diffuse demyelination of the cerebral white matter
def: "A diffuse loss of myelin from nerve fibers in the central nervous system." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024930
is_a: HP:0007305 ! CNS demyelination

[Term]
id: HP:0007163
name: obsolete Corticospinal tract disease in lower limbs
is_obsolete: true
consider: HP:0007256

[Term]
id: HP:0007164
name: Slowed slurred speech
synonym: "Slowed slurred speech" EXACT layperson []
xref: UMLS:C4024929
is_a: HP:0001350 ! Slurred speech

[Term]
id: HP:0007165
name: Periventricular heterotopia
alt_id: HP:0002272
def: "A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass." [https://orcid.org/0000-0002-0736-9199, PMID:22427329]
comment: Periventricular gray matter heterotopia can be seen for example in patients with Smith-Lemli-Opitz-Syndrome.
synonym: "Periventricular gray matter heterotopia" EXACT []
synonym: "Periventricular grey matter heterotopia" EXACT uk_spelling []
synonym: "Periventricular neuronal heterotopia" EXACT [https://orcid.org/0000-0002-0736-9199]
synonym: "Subependymal gray matter heterotopia" EXACT [https://orcid.org/0000-0002-0736-9199]
synonym: "Subependymal grey matter heterotopia" EXACT uk_spelling []
synonym: "Subependymal neuronal heterotopia" EXACT [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1849173
is_a: HP:0002282 ! Gray matter heterotopia

[Term]
id: HP:0007166
name: Paroxysmal dyskinesia
def: "Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks." [https://orcid.org/0000-0002-0736-9199]
synonym: "Involuntary dystonic or choreiform movements" RELATED []
xref: UMLS:C0752210
xref: UMLS:C1836174
is_a: HP:0004305 ! Involuntary movements

[Term]
id: HP:0007178
name: Motor polyneuropathy
alt_id: HP:0007278
synonym: "Peripheral motor neuropathy" EXACT []
xref: SNOMEDCT_US:85423005
xref: SNOMEDCT_US:95663000
xref: UMLS:C0235025
xref: UMLS:C0271683
is_a: HP:0009830 ! Peripheral neuropathy

[Term]
id: HP:0007179
name: Absent smooth pursuit
def: "A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024928
is_a: HP:0007772 ! Impaired smooth pursuit

[Term]
id: HP:0007181
name: Interosseus muscle atrophy
def: "Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones." [https://orcid.org/0000-0002-0736-9199]
comment: This term needs disambiguation. Palmar, plantar, or dorsal interosseus muscles.
synonym: "Interosseous muscular atrophy" EXACT []
xref: UMLS:C1846829
is_a: HP:0003693 ! Distal amyotrophy

[Term]
id: HP:0007182
name: Peripheral hypomyelination
alt_id: HP:0007012
alt_id: HP:0007160
alt_id: HP:0007226
def: "Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system." [https://orcid.org/0000-0002-0736-9199]
comment: This finding can be demonstrated by nerve biopsy.
xref: UMLS:C4024927
is_a: HP:0003130 ! Abnormal peripheral myelination

[Term]
id: HP:0007183
name: Focal T2 hyperintense basal ganglia lesion
def: "A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hyperintense lesions in the basal ganglia on MRI" RELATED []
xref: UMLS:C1865351
xref: UMLS:C4024926
is_a: HP:0012751 ! Abnormal basal ganglia MRI signal intensity

[Term]
id: HP:0007185
name: Loss of consciousness
def: "Loss of alertness and orientation to place and time." [PMID:32090418]
synonym: "Fainting" EXACT layperson []
synonym: "Loss of consciousness" EXACT layperson []
synonym: "Passing out" EXACT layperson []
xref: SNOMEDCT_US:418107008
xref: SNOMEDCT_US:419045004
xref: UMLS:C0041657
is_a: HP:0004372 ! Reduced consciousness
property_value: terms:contributor https://orcid.org/0000-0001-6262-8264
property_value: terms:contributor https://orcid.org/0000-0001-9446-5121
property_value: terms:contributor https://orcid.org/0000-0002-1592-0825
property_value: terms:contributor https://orcid.org/0000-0002-4672-4923
property_value: terms:contributor https://orcid.org/0000-0002-5554-6946
property_value: terms:contributor https://orcid.org/0000-0002-7367-663X

[Term]
id: HP:0007187
name: Focal lissencephaly
def: "A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex." [HPO_CONTRIBUTOR:KI_phemming]
xref: UMLS:C1855230
is_a: HP:0001339 ! Lissencephaly

[Term]
id: HP:0007188
name: Congenital facial diplegia
def: "Facial diplegia (that is, bilateral facial palsy) with congenital onset." [https://orcid.org/0000-0002-0736-9199]
synonym: "Congenital bilateral facial palsy" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Congenital bilateral facial weakness" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C0853240
is_a: HP:0001349 ! Facial diplegia

[Term]
id: HP:0007190
name: Neuronal loss in the cerebral cortex
xref: UMLS:C1849485
is_a: HP:0002538 ! Abnormal cerebral cortex morphology

[Term]
id: HP:0007193
name: Bilateral tonic-clonic seizure on awakening
alt_id: HP:0007008
def: "Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day)." [https://orcid.org/0000-0002-0736-9199, PMID:24395517, PMID:26948972]
synonym: "Generalised tonic-clonic seizures on awakening" EXACT uk_spelling []
synonym: "Generalized tonic-clonic seizures on awakening" EXACT []
synonym: "Morning generalised tonic-clonic seizures" EXACT uk_spelling []
synonym: "Morning generalized tonic-clonic seizures" EXACT layperson []
xref: UMLS:C1847165
is_a: HP:0002069 ! Bilateral tonic-clonic seizure

[Term]
id: HP:0007199
name: Progressive spastic paraparesis
xref: UMLS:C0747251
is_a: HP:0002313 ! Spastic paraparesis

[Term]
id: HP:0007200
name: Episodic hypersomnia
def: "Recurrent episodes of severe hypersomnia are accompanied by cognitive and behavioral disturbances, including confusion, derealization, apathy, compulsive eating, and hypersexuality." [PMID:36865656]
synonym: "Idiopathic hypersomnia" EXACT []
synonym: "Recurrent hypersomnia" EXACT []
xref: UMLS:C4024925
is_a: HP:0100786 ! Hypersomnia
property_value: terms:contributor https://orcid.org/0000-0001-6262-8264
property_value: terms:contributor https://orcid.org/0000-0001-9446-5121
property_value: terms:contributor https://orcid.org/0000-0002-1592-0825
property_value: terms:contributor https://orcid.org/0000-0002-4672-4923
property_value: terms:contributor https://orcid.org/0000-0002-5554-6946
property_value: terms:contributor https://orcid.org/0000-0002-7367-663X

[Term]
id: HP:0007201
name: Cerebral artery atherosclerosis
def: "The formation of the formation of fibrofatty lesions in the wall of an artery located in the brain." [https://orcid.org/0000-0002-0736-9199, PMID:31420554]
synonym: "Plaque build-up in cerebral artery" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024924
is_a: HP:0002621 ! Atherosclerosis
is_a: HP:0009145 ! Abnormal cerebral artery morphology

[Term]
id: HP:0007204
name: Diffuse white matter abnormalities
comment: This finding is demonstrated by cerebral computer tomography or magnetic resonance imaging.
xref: UMLS:C4024923
is_a: HP:0002500 ! Abnormal cerebral white matter morphology
property_value: terms:creator https://orcid.org/0000-0002-5316-1399

[Term]
id: HP:0007206
name: Hemimegalencephaly
def: "Enlargement of all or parts of one cerebral hemisphere." [https://orcid.org/0000-0002-0736-9199, PMID:17416820]
comment: The affected hemisphere may have focal or diffuse neuronal migration defects, with areas of polymicrogyria, pachygyria, and heterotopia.
xref: SNOMEDCT_US:253170008
xref: UMLS:C0431391
is_a: HP:0001355 ! Megalencephaly

[Term]
id: HP:0007207
name: Photosensitive tonic-clonic seizure
def: "Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light." [https://orcid.org/0000-0002-0736-9199, PMID:28276060]
synonym: "Photically induced tonic-clonic seizure" EXACT []
synonym: "Photosensitive tonic-clonic seizures" EXACT plural_form []
synonym: "Seizures, tonic-clonic, photosensitive" EXACT []
xref: UMLS:C1846131
is_a: HP:0020216 ! Visually-induced seizure
is_a: HP:0025190 ! Bilateral tonic-clonic seizure with generalized onset

[Term]
id: HP:0007208
name: Irregular myelin loops
def: "Presence of irregular redundant loops of focally folded myelin in a peripheral nerve." [PMID:20301641, PMID:8817346]
xref: UMLS:C4024922
is_a: HP:0030173 ! Peripheral hypermyelination

[Term]
id: HP:0007209
name: Facial paralysis
alt_id: HP:0007358
def: "Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve)." [https://orcid.org/0000-0002-0736-9199]
comment: Facial paralysis can be caused by compression of the facial nerve.The main difference between facial paralysis and Palsy is cause for the paralysis can be identified, be it a tumor, infection, or nerve damage. Facial paralysis, in most cases, also appears more permanent than Bell's Palsy, with cases lasting for years to life if a patient doesn't seek treatment.
subset: hposlim_core
synonym: "Facial paralysis" EXACT layperson []
synonym: "Facial paresis" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:280816001
xref: SNOMEDCT_US:95666008
xref: UMLS:C0015469
xref: UMLS:C0427055
is_a: HP:0001293 ! Cranial nerve compression
is_a: HP:0003470 ! Paralysis
is_a: HP:0030319 ! Weakness of facial musculature

[Term]
id: HP:0007210
name: Lower limb amyotrophy
def: "Muscular atrophy affecting the lower limb." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024921
is_a: HP:0003202 ! Skeletal muscle atrophy

[Term]
id: HP:0007215
name: Periodic hyperkalemic paralysis
def: "Episodes of muscle weakness associated with elevated levels of potassium in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hyperkalemic periodic paralysis" EXACT []
xref: SNOMEDCT_US:304737009
xref: UMLS:C0238357
is_a: HP:0003768 ! Periodic paralysis

[Term]
id: HP:0007220
name: Demyelinating motor neuropathy
def: "Demyelination of peripheral motor nerves." [https://orcid.org/0000-0002-0736-9199]
comment: Demyelinating motor neuropathy demonstrates slow motor nerve conduction velocities with reduced amplitudes of motor nerve conduction and prolonged distal latencies.
xref: UMLS:C1969462
is_a: HP:0007108 ! Demyelinating peripheral neuropathy
is_a: HP:0007178 ! Motor polyneuropathy

[Term]
id: HP:0007221
name: Progressive truncal ataxia
xref: UMLS:C1849143
is_a: HP:0002078 ! Truncal ataxia

[Term]
id: HP:0007227
name: obsolete Macrogyria
is_obsolete: true
replaced_by: HP:0001302

[Term]
id: HP:0007229
name: Intracerebral periventricular calcifications
def: "The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1837246
is_a: HP:0002514 ! Cerebral calcification

[Term]
id: HP:0007230
name: Decreased distal sensory nerve action potential
def: "A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024920
is_a: HP:0007078 ! Decreased amplitude of sensory action potentials

[Term]
id: HP:0007232
name: Spinocerebellar tract disease in lower limbs
xref: UMLS:C4024919
is_a: HP:0002503 ! Spinocerebellar tract degeneration

[Term]
id: HP:0007233
name: Clusters of axonal regeneration
def: "Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration." [HPO_CONTRIBUTOR:jbaets]
xref: UMLS:C1843169
is_a: HP:0003450 ! Axonal regeneration

[Term]
id: HP:0007236
name: Recurrent subcortical infarcts
xref: UMLS:C4024918
is_a: HP:0010993 ! Abnormal cerebral subcortex morphology

[Term]
id: HP:0007238
name: Nonarteriosclerotic cerebral calcification
synonym: "Cerebral calcification, nonarteriosclerotic" EXACT []
xref: UMLS:C4021579
is_a: HP:0002514 ! Cerebral calcification

[Term]
id: HP:0007239
name: Congenital encephalopathy
xref: UMLS:C4024917
is_a: HP:0001298 ! Encephalopathy

[Term]
id: HP:0007240
name: Progressive gait ataxia
alt_id: HP:0002142
def: "A type of gait ataxia displaying progression of clinical severity." [https://orcid.org/0000-0002-0736-9199]
synonym: "Gait ataxia, progressive" EXACT []
xref: UMLS:C1843885
is_a: HP:0002066 ! Gait ataxia

[Term]
id: HP:0007249
name: Decreased number of small peripheral myelinated nerve fibers
synonym: "Decreased number of small peripheral myelinated nerve fibres" EXACT uk_spelling []
xref: UMLS:C4024916
is_a: HP:0003380 ! Decreased number of peripheral myelinated nerve fibers

[Term]
id: HP:0007250
name: Recurrent external ophthalmoplegia
def: "Alternating and recurrent weakness of the external ocular muscles." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024915
is_a: HP:0000544 ! External ophthalmoplegia

[Term]
id: HP:0007256
name: Abnormal pyramidal sign
alt_id: HP:0003488
alt_id: HP:0007161
alt_id: HP:0007225
alt_id: HP:0007275
alt_id: HP:0007324
alt_id: HP:0007347
def: "Functional neurological abnormalities related to dysfunction of the pyramidal tract." [https://orcid.org/0000-0002-0736-9199]
comment: pyramidal signs are a subset of long-tract signs that specifically indicate corticospinal tract involvement. The more general term long-tract sign refers to a clinical findings related to damage to the long white matter tracts of the CNS, particularly the corticospinal tract, dorsal columns, and the spinothalamic tract.
synonym: "Corticospinal signs" EXACT []
synonym: "Pyramidal signs" EXACT []
synonym: "Pyramidal tract signs" EXACT []
xref: SNOMEDCT_US:14648003
xref: UMLS:C0234132
is_a: HP:0002423 ! Long-tract sign
is_a: HP:0002493 ! Upper motor neuron dysfunction

[Term]
id: HP:0007258
name: Severe demyelination of the white matter
def: "A severe loss of myelin from nerve fibers in the central nervous system." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1856001
is_a: HP:0007305 ! CNS demyelination

[Term]
id: HP:0007260
name: Type II lissencephaly
alt_id: HP:0006853
def: "A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cobblestone lissencephaly" EXACT []
synonym: "Lissencephaly type II" EXACT []
synonym: "Type 2 lissencephaly" EXACT []
xref: SNOMEDCT_US:253149002
xref: UMLS:C0431376
is_a: HP:0001339 ! Lissencephaly

[Term]
id: HP:0007262
name: Symmetric peripheral demyelination
def: "A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024914
is_a: HP:0011096 ! Peripheral demyelination

[Term]
id: HP:0007263
name: Spinocerebellar atrophy
def: "Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:129609000
xref: UMLS:C0087012
is_a: HP:0001272 ! Cerebellar atrophy

[Term]
id: HP:0007265
name: Absent mesencephalon
def: "Agenesis of the midbrain." [HPO_CONTRIBUTOR:KI_phemming]
comment: Midbrain and mesencephalon are synonymous.
xref: UMLS:C4024913
is_a: HP:0034258 ! Aplasia/Hypoplasia of the midbrain

[Term]
id: HP:0007266
name: Cerebral dysmyelination
alt_id: HP:0007134
alt_id: HP:0007217
def: "Defective structure and function of myelin sheaths of the white matter of the brain." [https://orcid.org/0000-0002-0736-9199]
synonym: "Areas of dysmyelination on MRI" EXACT []
synonym: "Dysmyelination of the brain" EXACT []
synonym: "White matter dysmyelination/demyelination" RELATED []
xref: UMLS:C1854885
xref: UMLS:C4020810
is_a: HP:0002500 ! Abnormal cerebral white matter morphology
is_a: HP:0011400 ! Abnormal CNS myelination

[Term]
id: HP:0007267
name: Chronic axonal neuropathy
alt_id: HP:0003446
def: "An abnormality characterized by chronic impairment of the normal functioning of the axons." [https://orcid.org/0000-0002-0736-9199]
comment: This feature is assayed with sural nerve biopsy and is generally taken to be indicative of neuropathy in other peripheral nerves.
synonym: "Chronic sural axonal neuropathy" EXACT []
xref: UMLS:C4021578
is_a: HP:0003477 ! Peripheral axonal neuropathy

[Term]
id: HP:0007268
name: Aprosencephaly
xref: SNOMEDCT_US:277922001
xref: UMLS:C0431349
is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum

[Term]
id: HP:0007269
name: Spinal muscular atrophy
def: "Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem." [https://orcid.org/0000-0002-0736-9199]
synonym: "Spinal muscle degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Spinal muscle wasting" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:5262007
xref: UMLS:C0026847
is_a: HP:0003202 ! Skeletal muscle atrophy

[Term]
id: HP:0007270
name: Atypical absence seizure
def: "An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity." [https://orcid.org/0000-0002-0736-9199, PMID:28276060, PMID:28276062, PMID:28276064, PMID:6790275]
comment: in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure.
synonym: "Atypical absence" EXACT []
synonym: "Atypical absence seizures" EXACT plural_form []
synonym: "Atypical petit mal seizures" EXACT plural_form [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:23374007
xref: UMLS:C0595948
is_a: HP:0002121 ! Generalized non-motor (absence) seizure

[Term]
id: HP:0007271
name: Occipital myelomeningocele
xref: UMLS:C4024912
is_a: HP:0002436 ! Occipital meningocele

[Term]
id: HP:0007272
name: Progressive psychomotor deterioration
alt_id: HP:0006856
synonym: "Progressive mental and motor deterioration" EXACT []
xref: UMLS:C1856565
is_a: HP:0002344 ! Progressive neurologic deterioration

[Term]
id: HP:0007274
name: Recurrent bacterial meningitis
def: "An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1845604
is_a: HP:0006946 ! Recurrent meningitis

[Term]
id: HP:0007277
name: Paucity of anterior horn motor neurons
xref: UMLS:C2673351
is_a: HP:0002450 ! Abnormal motor neuron morphology

[Term]
id: HP:0007280
name: Acute infantile spinal muscular atrophy
xref: UMLS:C4024911
is_a: HP:0007269 ! Spinal muscular atrophy

[Term]
id: HP:0007281
name: Developmental stagnation
alt_id: HP:0007130
alt_id: HP:0007198
def: "A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills." [https://orcid.org/0000-0002-0736-9199]
synonym: "Developmental arrest" EXACT []
xref: UMLS:C1848980
is_a: HP:0012759 ! Neurodevelopmental abnormality

[Term]
id: HP:0007285
name: Facial palsy secondary to cranial hyperostosis
def: "Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve." [https://orcid.org/0000-0002-0736-9199]
synonym: "Facial palsy caused by enlargement of cranial bones" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Facial palsy caused by excessive growth of facial bones" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Facial palsy caused by overgrowth of cranial bones" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Facial palsy secondary to hypertrophy of cranial bones" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1849260
is_a: HP:0005465 ! Facial hyperostosis

[Term]
id: HP:0007286
name: Horizontal jerk nystagmus
def: "Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other." [https://orcid.org/0000-0002-0736-9199]
comment: Pendular nystagmus refers to the situation in which the eye appeared to oscillate with equal speed in either direction, in contrast to jerk nystagmus, in which the movement in one direction is faster than in the other.
xref: UMLS:C4024910
is_a: HP:0000666 ! Horizontal nystagmus

[Term]
id: HP:0007289
name: Limb fasciculations
alt_id: HP:0007049
def: "Fasciculations affecting the musculature of the arms and legs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Limb fasciculation" EXACT []
xref: UMLS:C1854657
is_a: HP:0002380 ! Fasciculations
is_a: HP:0010546 ! Muscle fibrillation
is_a: HP:0040064 ! Abnormality of limbs

[Term]
id: HP:0007291
name: Posterior fossa cyst
alt_id: HP:0006985
def: "A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle." [https://orcid.org/0000-0002-0736-9199, PMID:2816648]
xref: UMLS:C1857353
is_a: HP:0000932 ! Abnormal posterior cranial fossa morphology
is_a: HP:0010576 ! Intracranial cystic lesion

[Term]
id: HP:0007293
name: Anterior sacral meningocele
xref: UMLS:C1867776
is_a: HP:0005765 ! Sacral meningocele

[Term]
id: HP:0007295
name: Chaotic rapid conjugate ocular movements
xref: UMLS:C4024909
is_a: HP:0012547 ! Abnormal involuntary eye movements

[Term]
id: HP:0007299
name: Dysfunction of lateral corticospinal tracts
xref: UMLS:C1832671
is_a: HP:0002493 ! Upper motor neuron dysfunction

[Term]
id: HP:0007301
name: Oromotor apraxia
def: "Oral-motor apraxia is the inability to volitionally sequence oral movements of the speech structure for nonspeech tasks in the absence of neuromuscular deficits such as paralysis or muscle weakness. Oral-motor apraxia is diagnosed when, despite intact sensory motor function an individual is unable to use these effector systems under voluntary control." [PMID:26275812]
comment: Affected individuals may experience difficulty in performing movements involving the muscles that also are involved in speech (e.g., clicking the tongue, licking the lips, whistling).
synonym: "Oral-motor apraxia" EXACT []
xref: UMLS:C4021845
is_a: HP:0002186 ! Apraxia

[Term]
id: HP:0007302
name: Bipolar affective disorder
alt_id: HP:0000755
def: "Bipolar disorder is an illness of mood characterized by alternating episodes of elevated and depressed moods, which are interspersed with euthymic periods." []
synonym: "Bipolar depression" EXACT []
synonym: "Bipolar disorder" EXACT layperson []
synonym: "Manic depressive" EXACT []
xref: SNOMEDCT_US:13746004
xref: UMLS:C0005586
is_a: HP:0025783 ! Diagnostic behavioral phenotype
property_value: terms:contributor https://orcid.org/0000-0002-1111-7357
property_value: terms:contributor https://orcid.org/0000-0002-7954-5235
property_value: terms:contributor https://orcid.org/0000-0003-2897-0458
property_value: terms:contributor https://orcid.org/0000-0003-4298-5074
property_value: terms:contributor https://orcid.org/0000-0003-4618-6544

[Term]
id: HP:0007305
name: CNS demyelination
alt_id: HP:0007222
def: "A loss of myelin from nerve fibers in the central nervous system." [https://orcid.org/0000-0002-0736-9199]
comment: CNS demyelination affects the white matter, which consists mostly of axons with their envelope of myelin, along with two types of neuroglia: oligo-dendrocytes and astrocytes.
synonym: "Demyelination in central white matter" EXACT []
xref: UMLS:C0338474
is_a: HP:0011400 ! Abnormal CNS myelination

[Term]
id: HP:0007307
name: Rapid neurologic deterioration
xref: UMLS:C4024908
is_a: HP:0002344 ! Progressive neurologic deterioration

[Term]
id: HP:0007308
name: Extrapyramidal dyskinesia
xref: UMLS:C1848528
is_a: HP:0002071 ! Abnormality of extrapyramidal motor function
is_a: HP:0100660 ! Dyskinesia

[Term]
id: HP:0007311
name: Short stepped shuffling gait
synonym: "Short stepped shuffling walk" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C3805715
is_a: HP:0002362 ! Shuffling gait

[Term]
id: HP:0007313
name: Cerebral degeneration
alt_id: HP:0006874
synonym: "Neuroaxonal degeneration in the brain" EXACT []
xref: SNOMEDCT_US:418143002
xref: SNOMEDCT_US:52522001
xref: UMLS:C0154671
is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum

[Term]
id: HP:0007314
name: obsolete White matter neuronal heterotopia
is_obsolete: true
replaced_by: HP:0002282

[Term]
id: HP:0007316
name: obsolete Involuntary writhing movements
is_obsolete: true
replaced_by: HP:0002305

[Term]
id: HP:0007321
name: Deep white matter hypodensities
def: "Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter." [https://orcid.org/0000-0002-0736-9199, PMID:16239634]
comment: See also definition for "Periventricular white matter hypodensities". These two entities are in contra-distinction to each other.
synonym: "Deep cerebral white matter hypodensities" EXACT []
xref: UMLS:C1856979
is_a: HP:0007103 ! Hypointensity of cerebral white matter on MRI
property_value: terms:creator https://orcid.org/0000-0002-5316-1399

[Term]
id: HP:0007325
name: Generalized dystonia
def: "A type of dystonia that affects all or most of the body." [https://orcid.org/0000-0002-0736-9199]
synonym: "Generalised dystonia" EXACT uk_spelling []
xref: SNOMEDCT_US:425492002
xref: UMLS:C1848954
is_a: HP:0001332 ! Dystonia

[Term]
id: HP:0007326
name: Progressive choreoathetosis
xref: UMLS:C1860216
is_a: HP:0001266 ! Choreoathetosis

[Term]
id: HP:0007327
name: Mixed demyelinating and axonal polyneuropathy
xref: UMLS:C4024907
is_a: HP:0009830 ! Peripheral neuropathy
is_a: HP:0012447 ! Abnormal myelination

[Term]
id: HP:0007328
name: Impaired pain sensation
alt_id: HP:0002713
def: "Reduced ability to perceive painful stimuli." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased pain sensation" EXACT layperson []
synonym: "Decreased pinprick sensation" EXACT []
synonym: "Impaired pain sensation" EXACT layperson []
xref: UMLS:C1837522
is_a: HP:0010832 ! Abnormality of pain sensation

[Term]
id: HP:0007330
name: Frontoethmoidal encephalocele
alt_id: HP:0004478
def: "A type of anterior encephalocele in which there is a protrusion of the contents of the skull through a breach at the point where the frontal and ethmoidal bones meet. Frontoethmoidal encephalocele can be divided further into three distinct categories: nasofrontal, nasoethmoidal, and nasoorbital." [PMID:25593873]
synonym: "Frontal encephalocele" EXACT []
xref: SNOMEDCT_US:253103006
xref: UMLS:C0431289
is_a: HP:0007035 ! Anterior encephalocele

[Term]
id: HP:0007332
name: Focal hemifacial clonic seizure
def: "Focal seizure characterized at onset by clonic movements affecting half of the face." [HPO_CONTRIBUTOR:jalbers, PMID:28276060]
comment: A seizure type typically occurring in childhood epilepsy with centrotemporal spikes.
synonym: "Hemifacial seizures" EXACT plural_form []
xref: UMLS:C4024906
is_a: HP:0002266 ! Focal clonic seizure

[Term]
id: HP:0007333
name: Hypoplasia of the frontal lobes
alt_id: HP:0002424
def: "Underdevelopment of the frontal lobe of the cerebrum." [https://orcid.org/0009-0006-4530-3154]
synonym: "Frontal lobe hypoplasia" EXACT []
synonym: "Hypoplastic frontal lobes" EXACT []
synonym: "Underdeveloped frontal lobe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1849172
is_a: HP:0002538 ! Abnormal cerebral cortex morphology
is_a: HP:0006872 ! Cerebral hypoplasia

[Term]
id: HP:0007334
name: Bilateral tonic-clonic seizure with focal onset
alt_id: HP:0002602
def: "A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase." [https://orcid.org/0000-0002-0736-9199, PMID:28276060, PMID:28276064]
comment: The ILAE 2017 classification refers to this seizure type as a focal to bilateral tonic-clonic seizure. Previously it has been known as a secondarily generalized tonic-clonic seizure. The focal features of the seizure may be clinically manifest or alternatively, the spread in brain networks may be so rapid that no preceding focal symptom or sign is identified with demonstration of the focal onset resting on investigations. Note that not all instances of a Bilateral tonic-clonic seizure with focal onset will be a Focal motor seizure, some will be a Focal non-motor seizure, thus one can only say that there is a Focal-onset.
synonym: "Focal seizure with secondary generalisation" EXACT uk_spelling []
synonym: "Focal seizure with secondary generalization" EXACT []
synonym: "Focal to bilateral tonic-clonic seizure" EXACT []
synonym: "Generalised tonic-clonic seizure with focal onset" EXACT []
synonym: "Generalised tonic-clonic seizure with partial onset" EXACT []
synonym: "Generalised tonic-clonic seizures with focal onset" EXACT uk_spelling []
synonym: "Generalized tonic-clonic seizure with focal onset" EXACT []
synonym: "Generalized tonic-clonic seizure with partial onset" EXACT []
synonym: "Generalized tonic-clonic seizures with focal onset" EXACT plural_form []
synonym: "Partial seizure with secondary generalisation" EXACT uk_spelling []
synonym: "Partial seizure with secondary generalization" EXACT []
synonym: "Partial seizures with secondary generalisation" EXACT uk_spelling []
synonym: "Partial seizures with secondary generalization" EXACT []
synonym: "Secondarily generalised tonic-clonic seizure" EXACT uk_spelling []
synonym: "Secondarily generalised tonic-clonic seizures" EXACT uk_spelling []
synonym: "Secondarily generalized tonic-clonic seizure" EXACT []
synonym: "Secondarily generalized tonic-clonic seizures" EXACT []
synonym: "Secondary generalised tonic clonic seizures" EXACT uk_spelling []
synonym: "Secondary generalised tonic-clonic seizures" EXACT uk_spelling []
synonym: "Secondary generalized tonic clonic seizures" EXACT []
synonym: "Secondary generalized tonic-clonic seizures" EXACT []
xref: UMLS:C0877017
is_a: HP:0002069 ! Bilateral tonic-clonic seizure
is_a: HP:0007359 ! Focal-onset seizure

[Term]
id: HP:0007335
name: Recurrent encephalopathy
alt_id: HP:0006947
def: "Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections." [https://orcid.org/0000-0002-0736-9199]
synonym: "Recurrent cerebellar and extrapyramidal encephalopathy" EXACT []
xref: UMLS:C1850719
is_a: HP:0001298 ! Encephalopathy

[Term]
id: HP:0007338
name: Hypermetric saccades
def: "A saccade that overshoots the target with the dynamic saccade." [https://orcid.org/0000-0002-0736-9199, PMID:572501]
xref: SNOMEDCT_US:246769000
xref: UMLS:C0423083
is_a: HP:0000570 ! Abnormal saccadic eye movements

[Term]
id: HP:0007340
name: Lower limb muscle weakness
alt_id: HP:0002065
alt_id: HP:0002477
alt_id: HP:0009047
def: "Weakness of the muscles of the legs." [https://orcid.org/0000-0002-0736-9199]
comment: Inability to perform rapid, alternating movements.
synonym: "Leg weakness" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Lower extremity weakness" EXACT layperson []
synonym: "Lower limb muscle weakness" EXACT layperson []
synonym: "Lower limb weakness" EXACT layperson []
synonym: "Muscle weakness in lower limbs" EXACT layperson []
xref: SNOMEDCT_US:249945007
xref: UMLS:C0427068
xref: UMLS:C1836296
is_a: HP:0003690 ! Limb muscle weakness

[Term]
id: HP:0007341
name: Diffuse swelling of cerebral white matter
xref: UMLS:C1858855
is_a: HP:0002500 ! Abnormal cerebral white matter morphology

[Term]
id: HP:0007343
name: Abnormal morphology of the limbic system
def: "Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex]." []
synonym: "Limbic malformation" EXACT []
xref: UMLS:C1863392
is_a: HP:0100547 ! Abnormal forebrain morphology

[Term]
id: HP:0007344
name: Atrophy/Degeneration involving the spinal cord
synonym: "Atrophic and degenerative changes in the spinal cord" EXACT []
xref: UMLS:C1843858
is_a: HP:0002143 ! Abnormal spinal cord morphology
is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system

[Term]
id: HP:0007346
name: Subcortical white matter calcifications
xref: UMLS:C1851430
is_a: HP:0002500 ! Abnormal cerebral white matter morphology
is_a: HP:0002514 ! Cerebral calcification
property_value: terms:creator https://orcid.org/0000-0002-5316-1399

[Term]
id: HP:0007348
name: Hypoplasia of the pyramidal tract
xref: UMLS:C1850871
is_a: HP:0007363 ! Aplasia/Hypoplasia of the pyramidal tract

[Term]
id: HP:0007350
name: Upper limb hyperreflexia
def: "Increased intensity of the a reflex in the arm." []
synonym: "Hyperreflexia in upper limbs" EXACT []
xref: UMLS:C1843175
is_a: HP:0001347 ! Hyperreflexia

[Term]
id: HP:0007351
name: Upper limb postural tremor
alt_id: HP:0007297
def: "A type of tremors that is triggered by holding an arm in a fixed position." [https://orcid.org/0000-0002-0736-9199]
synonym: "Postural tremor of arms" EXACT []
xref: UMLS:C1867138
is_a: HP:0002174 ! Postural tremor
is_a: HP:0200085 ! Limb tremor

[Term]
id: HP:0007352
name: Cerebellar calcifications
xref: UMLS:C1851431
is_a: HP:0001317 ! Abnormal cerebellum morphology
is_a: HP:0010766 ! Ectopic calcification

[Term]
id: HP:0007354
name: Amyotrophic lateral sclerosis
synonym: "Lou Gehrig's disease" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:86044005
xref: UMLS:C0002736
is_a: HP:0007373 ! Motor neuron atrophy

[Term]
id: HP:0007359
name: Focal-onset seizure
alt_id: HP:0002358
alt_id: HP:0040168
def: "A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures." [HPO_CONTRIBUTOR:jalbers, PMID:28276060, PMID:28276064]
comment: In 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (>80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure.
synonym: "Focal onset seizure" EXACT []
synonym: "Focal seizure" EXACT []
synonym: "Focal seizures" EXACT plural_form []
synonym: "Focal-onset seizures" EXACT plural_form []
synonym: "Partial seizure" EXACT []
synonym: "Partial seizures" EXACT plural_form []
synonym: "Seizure affecting one half of brain" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:29753000
xref: UMLS:C0751495
is_a: HP:0001250 ! Seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-31T05:27:00Z

[Term]
id: HP:0007360
name: Aplasia/Hypoplasia of the cerebellum
alt_id: HP:0006857
alt_id: HP:0007368
synonym: "Absent/small cerebellum" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped cerebellum" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Atrophy/Degeneration affecting the cerebellum" EXACT []
synonym: "Atrophy/Hypoplasia of the cerebellum" EXACT []
synonym: "Cerebellar hypoplasia/atrophy" EXACT []
xref: UMLS:C3279222
is_a: HP:0001317 ! Abnormal cerebellum morphology
is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-31T05:30:00Z

[Term]
id: HP:0007361
name: Abnormal pons morphology
def: "A structural abnormality of the pons." [https://orcid.org/0000-0002-0736-9199]
comment: The pons is the portion of the brainstem superior to the medulla oblongata.
synonym: "Abnormality of the pons" EXACT []
xref: UMLS:C4024905
is_a: HP:0002363 ! Abnormal brainstem morphology
is_a: HP:0011283 ! Abnormal metencephalon morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-31T05:32:00Z

[Term]
id: HP:0007362
name: Aplasia/Hypoplasia of the brainstem
synonym: "Absent/small brainstem" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped brainstem" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024904
is_a: HP:0002363 ! Abnormal brainstem morphology
is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-31T05:33:00Z

[Term]
id: HP:0007363
name: Aplasia/Hypoplasia of the pyramidal tract
xref: UMLS:C4024903
is_a: HP:0002062 ! Abnormal pyramidal tract morphology
is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-31T05:41:00Z

[Term]
id: HP:0007364
name: Aplasia/Hypoplasia of the cerebrum
synonym: "Absent/small cerebrum" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Absent/underdeveloped cerebrum" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4024902
is_a: HP:0002060 ! Abnormal cerebral morphology
is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-31T05:43:00Z

[Term]
id: HP:0007365
name: Aplasia/Hypoplasia involving the corticospinal tracts
xref: UMLS:C4024901
is_a: HP:0002492 ! Abnormal corticospinal tract morphology
is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-03-31T05:45:00Z

[Term]
id: HP:0007366
name: Atrophy/Degeneration affecting the brainstem
synonym: "Brainstem atrophy" EXACT []
xref: UMLS:C4024900
is_a: HP:0002363 ! Abnormal brainstem morphology
is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-01T10:22:00Z

[Term]
id: HP:0007367
name: Atrophy/Degeneration affecting the central nervous system
synonym: "Atrophy/Degeneration affecting the CNS" EXACT abbreviation []
xref: UMLS:C4024899
is_a: HP:0002011 ! Morphological central nervous system abnormality
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-01T10:23:00Z

[Term]
id: HP:0007369
name: Atrophy/Degeneration affecting the cerebrum
def: "The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024898
is_a: HP:0002060 ! Abnormal cerebral morphology
is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system
is_a: HP:0012444 ! Brain atrophy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-01T10:28:00Z

[Term]
id: HP:0007370
name: Aplasia/Hypoplasia of the corpus callosum
alt_id: HP:0007003
alt_id: HP:0007060
alt_id: HP:0007061
alt_id: HP:0007137
def: "Absence or underdevelopment of the corpus callosum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/hypoplastic corpus callosum" EXACT []
synonym: "Agenesis/hypoplastic corpus callosum" EXACT []
synonym: "Complete or partial absence of the corpus callosum" EXACT []
synonym: "Hypoplasia or absence of the corpus callosum" EXACT []
synonym: "Hypoplastic or absent corpus callosum" EXACT []
xref: UMLS:C1861866
is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum
is_a: HP:0033725 ! Thin corpus callosum
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-01T10:35:00Z

[Term]
id: HP:0007371
name: Corpus callosum atrophy
alt_id: HP:0005712
def: "The presence of atrophy (wasting) of the corpus callosum." [https://orcid.org/0009-0006-4530-3154]
synonym: "Atrophic corpus callosum" EXACT []
synonym: "Atrophy of the corpus callosum" EXACT []
synonym: "Atrophy/Degeneration of the corpus callosum" EXACT []
xref: SNOMEDCT_US:253142006
xref: UMLS:C0431370
is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum
is_a: HP:0012762 ! Cerebral white matter atrophy
is_a: HP:0033725 ! Thin corpus callosum
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-01T10:36:00Z

[Term]
id: HP:0007372
name: Atrophy/Degeneration involving the corticospinal tracts
xref: UMLS:C4024897
is_a: HP:0002492 ! Abnormal corticospinal tract morphology
is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-01T10:38:00Z

[Term]
id: HP:0007373
name: Motor neuron atrophy
def: "Wasting involving the motor neuron." [https://orcid.org/0000-0002-0736-9199]
synonym: "Motor neuron degeneration" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024896
is_a: HP:0002450 ! Abnormal motor neuron morphology
is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-01T10:39:00Z

[Term]
id: HP:0007374
name: Atrophy/Degeneration involving the caudate nucleus
xref: UMLS:C4024895
is_a: HP:0002339 ! Abnormal caudate nucleus morphology
is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-01T10:47:00Z

[Term]
id: HP:0007375
name: Abnormal septum pellucidum morphology
def: "An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the septum pellucidum" EXACT []
xref: UMLS:C4024894
is_a: HP:0002060 ! Abnormal cerebral morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-01T10:48:00Z

[Term]
id: HP:0007376
name: Abnormal choroid plexus morphology
def: "An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells." [https://orcid.org/0000-0002-0736-9199]
comment: The choroid plexus is a structure in the ventricles of the brain where cerebrospinal fluid (CSF) is produced.
xref: UMLS:C4024893
is_a: HP:0002118 ! Abnormal cerebral ventricle morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-01T10:52:00Z

[Term]
id: HP:0007377
name: Abnormality of somatosensory evoked potentials
def: "An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of SSEPs" EXACT []
xref: UMLS:C4021577
is_a: HP:0030177 ! Abnormality of peripheral nervous system electrophysiology
is_a: HP:0430106 ! Abnormal brain-evoked potentials
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-01T11:23:00Z

[Term]
id: HP:0007378
name: Neoplasm of the gastrointestinal tract
def: "A tumor (abnormal growth of tissue) of the gastrointestinal tract." [https://orcid.org/0000-0002-0736-9199]
synonym: "Gastrointestinal tract neoplasia" EXACT []
synonym: "Gastrointestinal tract neoplasm" EXACT []
synonym: "Gastrointestinal tract tumor" EXACT layperson []
synonym: "Gastrointestinal tract tumour" EXACT uk_spelling []
synonym: "GI tract tumor" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "GI tract tumour" EXACT uk_spelling []
synonym: "Neoplasm of the GI tract" EXACT abbreviation []
xref: NCIT:C3262
xref: SNOMEDCT_US:126768004
xref: UMLS:C0017185
is_a: HP:0011024 ! Abnormality of the gastrointestinal tract
is_a: HP:0034930 ! Digestive system neoplasm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-01T11:55:00Z

[Term]
id: HP:0007379
name: Neoplasm of the genitourinary tract
def: "A tumor (abnormal growth of tissue) of the genitourinary system." [https://orcid.org/0000-0002-0736-9199]
synonym: "Genitourinary tract neoplasia" RELATED []
synonym: "Genitourinary tract neoplasm" EXACT []
synonym: "Genitourinary tract tumors" EXACT layperson []
synonym: "Genitourinary tract tumours" EXACT uk_spelling []
synonym: "Neoplasm of the GU tract" EXACT abbreviation []
xref: NCIT:C3262
xref: UMLS:C0042065
xref: UMLS:C4020809
is_a: HP:0000119 ! Abnormality of the genitourinary system
is_a: HP:0011793 ! Neoplasm by anatomical site
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-01T12:00:00Z

[Term]
id: HP:0007380
name: Facial telangiectasia
alt_id: HP:0007520
def: "Telangiectases (small dilated blood vessels) located near the surface of the skin of the face." [https://orcid.org/0000-0002-0736-9199]
synonym: "Facial telangiectatic vessels" EXACT []
synonym: "Telangiectasia, facial" EXACT []
xref: UMLS:C0858684
is_a: HP:0100585 ! Telangiectasia of the skin

[Term]
id: HP:0007381
name: Congenital exfoliative erythroderma
xref: UMLS:C4024892
is_a: HP:0001019 ! Erythroderma

[Term]
id: HP:0007383
name: Congenital localized absence of skin
alt_id: HP:0007557
synonym: "Congenital localised absence of skin" EXACT uk_spelling []
synonym: "Congenital localised skin absence" EXACT uk_spelling []
synonym: "Congenital localized skin absence" EXACT []
xref: UMLS:C2673597
is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin

[Term]
id: HP:0007384
name: Aberrant melanosome maturation
xref: UMLS:C1969516
is_a: HP:0011125 ! Abnormality of dermal melanosomes

[Term]
id: HP:0007385
name: Aplasia cutis congenita of scalp
alt_id: HP:0000994
alt_id: HP:0007568
def: "A developmental defect resulting in the congenital absence of skin on the scalp." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Defect of scalp" BROAD []
synonym: "Focal absence of scalp tissue" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Scalp aplasia cutis congenita" EXACT []
synonym: "Scalp defect" BROAD []
synonym: "Solitary scalp defect" BROAD [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1855698
xref: UMLS:C4048801
xref: UMLS:C4072857
xref: UMLS:C4072858
is_a: HP:0001057 ! Aplasia cutis congenita

[Term]
id: HP:0007387
name: Hypoplastic sweat glands
def: "Underdevelopment of the sweat glands." [https://orcid.org/0000-0002-0736-9199]
synonym: "Underdeveloped sweat glands" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1832455
is_a: HP:0011135 ! Aplasia/Hypoplasia of the sweat glands

[Term]
id: HP:0007390
name: Hyperkeratosis with erythema
xref: UMLS:C4024891
is_a: HP:0000962 ! Hyperkeratosis

[Term]
id: HP:0007392
name: Excessive wrinkled skin
synonym: "Excessive wrinkled skin" EXACT layperson []
xref: UMLS:C4024890
is_a: HP:0008067 ! Abnormally lax or hyperextensible skin
is_a: HP:0100678 ! Premature skin wrinkling

[Term]
id: HP:0007394
name: Prominent superficial blood vessels
alt_id: HP:0007577
synonym: "Prominent superficial blood vessels" EXACT layperson []
synonym: "Prominent superficial vasculature" EXACT layperson []
xref: UMLS:C1848771
is_a: HP:0011276 ! Vascular skin abnormality

[Term]
id: HP:0007395
name: Postnatal-onset ichthyosiform erythroderma
def: "A type of ichthyosiform erythroderma with postnatal onset." [https://orcid.org/0000-0002-0736-9199]
synonym: "Postnatal-onset ichthyosis" EXACT []
xref: UMLS:C4021576
is_a: HP:0008064 ! Ichthyosis

[Term]
id: HP:0007396
name: Early cutaneous photosensitivity
def: "Photosensitivity of the skin occurring early in life." [https://orcid.org/0000-0002-0736-9199]
synonym: "Sun sensitivity occurring early in life" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024889
is_a: HP:0000992 ! Cutaneous photosensitivity

[Term]
id: HP:0007397
name: Axillary apocrine gland hypoplasia
def: "Developmental hypoplasia of the apocrine sweat glands in the region of the axilla." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1867003
is_a: HP:0011135 ! Aplasia/Hypoplasia of the sweat glands

[Term]
id: HP:0007398
name: Asymmetric, linear skin defects
xref: UMLS:C4024888
is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin

[Term]
id: HP:0007400
name: Irregular hyperpigmentation
xref: UMLS:C1860236
is_a: HP:0000953 ! Hyperpigmentation of the skin

[Term]
id: HP:0007401
name: Macular atrophy
def: "Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss." [https://orcid.org/0000-0003-0986-4123]
xref: SNOMEDCT_US:238828009
xref: UMLS:C1288283
is_a: HP:0000608 ! Macular degeneration
is_a: HP:0001105 ! Retinal atrophy

[Term]
id: HP:0007402
name: Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines
xref: UMLS:C4024886
is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin

[Term]
id: HP:0007403
name: Hypertrophy of skin of soles
synonym: "Thick skin of soles" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1867617
is_a: HP:0100872 ! Abnormality of the plantar skin of foot

[Term]
id: HP:0007404
name: Nonepidermolytic palmoplantar hyperkeratosis
def: "Abnormal thickening of the skin on the palms and soles charactersized by hyperkeratosis of the stratum corneum with no evidence of epidermolysis characteristic of epidermolytic hyperkeratosis." [PMID:7528239]
synonym: "Nonepidermolytic palmoplantar keratoderma" EXACT []
xref: UMLS:C1833030
is_a: HP:0000972 ! Palmoplantar hyperkeratosis

[Term]
id: HP:0007406
name: Hyperpigmentation of eyelids
synonym: "Brown eyelids" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Dark eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Pigmentation of eyelids" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:41115008
xref: UMLS:C0155211
xref: UMLS:C0854438
xref: UMLS:C4280440
is_a: HP:0000492 ! Abnormal eyelid morphology
is_a: HP:0007400 ! Irregular hyperpigmentation

[Term]
id: HP:0007407
name: Excessive skin wrinkling on dorsum of hands and fingers
synonym: "Excessive skin wrinkling on back of hands and fingers" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1837467
is_a: HP:0007392 ! Excessive wrinkled skin

[Term]
id: HP:0007408
name: Tegumentary leishmaniasis susceptibility
def: "Increased susceptibility to infection by the protozan parasite of the genus Leishmania." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C2748501
is_a: HP:0005386 ! Recurrent protozoan infections

[Term]
id: HP:0007409
name: obsolete Absence of subcutaneous fat over entire body except buttocks, hips, and thighs
is_obsolete: true
replaced_by: HP:0003758

[Term]
id: HP:0007410
name: Palmoplantar hyperhidrosis
alt_id: HP:0007624
def: "An abnormally increased perspiration on palms and soles." [https://orcid.org/0000-0002-0736-9199]
synonym: "Excessive sweating of palms and soles" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Hyperhidrosis of palms and soles" EXACT []
xref: SNOMEDCT_US:403375001
xref: UMLS:C1274743
is_a: HP:0006089 ! Palmar hyperhidrosis
is_a: HP:0100872 ! Abnormality of the plantar skin of foot

[Term]
id: HP:0007411
name: Hypoplastic-absent sebaceous glands
xref: UMLS:C1844617
is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin

[Term]
id: HP:0007412
name: Macular hyperpigmented dermopathy
xref: UMLS:C4024885
is_a: HP:0001034 ! Hypermelanotic macule

[Term]
id: HP:0007413
name: Nevus flammeus of the forehead
def: "Naevus flammeus localized in the skin of the forehead." [https://orcid.org/0009-0006-4530-3154]
synonym: "Port-wine stain on forehead" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1848850
is_a: HP:0001052 ! Nevus flammeus

[Term]
id: HP:0007414
name: Neonatal wrinkled skin of hands and feet
synonym: "Wrinkled skin of hands and feet in newborn" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024884
is_a: HP:0100678 ! Premature skin wrinkling

[Term]
id: HP:0007417
name: Discoid lupus rash
alt_id: HP:0000981
def: "Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy." []
comment: This lesion is characteristic of discoid lupus erythematosus, but similar lesions may be observed in other diseases.
synonym: "Discoid lupus erythematosus" EXACT []
xref: SNOMEDCT_US:200938002
xref: SNOMEDCT_US:238927000
xref: UMLS:C0024138
is_a: HP:0000988 ! Skin rash
property_value: terms:creator https://orcid.org/0000-0002-5316-1399

[Term]
id: HP:0007418
name: Alopecia totalis
def: "Loss of all scalp hair." [https://orcid.org/0000-0002-0736-9199]
synonym: "Total alopecia" RELATED []
xref: SNOMEDCT_US:19754005
xref: UMLS:C0263504
is_a: HP:0001596 ! Alopecia

[Term]
id: HP:0007420
name: Spontaneous hematomas
def: "Spontaneous development of hematomas (hematoma) or bruises without significant trauma." [https://orcid.org/0000-0003-2945-4463]
xref: UMLS:C1697453
is_a: HP:0001933 ! Subcutaneous hemorrhage

[Term]
id: HP:0007421
name: Telangiectases of the cheeks
def: "Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks." [https://orcid.org/0000-0002-0736-9199]
synonym: "Telangiectasia on the cheeks" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C3554587
is_a: HP:0007380 ! Facial telangiectasia

[Term]
id: HP:0007425
name: Hyperextensible skin of face
synonym: "Hyperelastic face skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Stretchable face skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024883
is_a: HP:0007458 ! Focal hyperextensible skin

[Term]
id: HP:0007427
name: Reticulated skin pigmentation
synonym: "Reticular pigmentation pattern" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Reticulate skin pigmentation" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C3279575
xref: UMLS:C3279601
is_a: HP:0001000 ! Abnormality of skin pigmentation

[Term]
id: HP:0007428
name: Telangiectasia of the oral mucosa
def: "Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa." [https://orcid.org/0000-0002-0736-9199]
synonym: "Angioectasia of the oral mucosa" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Angioectasia of the oral mucous membrane" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Spider veins of the oral mucosa" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Telangiectasia of the oral mucous membrane" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4024882
is_a: HP:0000228 ! Oral cavity telangiectasia

[Term]
id: HP:0007429
name: Few cafe-au-lait spots
def: "The presence of two to five cafe-au-lait macules." [https://orcid.org/0000-0003-1773-4011]
xref: UMLS:C4024881
is_a: HP:0000957 ! Cafe-au-lait spot

[Term]
id: HP:0007430
name: Generalized edema
alt_id: HP:0007575
def: "Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body." [https://orcid.org/0000-0002-0736-9199]
synonym: "Generalised oedema" EXACT uk_spelling []
synonym: "Generalised tissue oedema" EXACT uk_spelling []
synonym: "Generalized tissue edema" EXACT []
xref: SNOMEDCT_US:271808008
xref: UMLS:C1850534
is_a: HP:0000969 ! Edema

[Term]
id: HP:0007431
name: Congenital ichthyosiform erythroderma
alt_id: HP:0007478
alt_id: HP:0007484
def: "An ichthyosiform abnormality of the skin with congenital onset." [https://orcid.org/0000-0002-0736-9199]
synonym: "Congenital ichthyosis" EXACT []
synonym: "Ichthyosis, congenital" EXACT []
xref: SNOMEDCT_US:254156001
xref: SNOMEDCT_US:268282005
xref: UMLS:C0079583
is_a: HP:0008064 ! Ichthyosis

[Term]
id: HP:0007432
name: Intermittent generalized erythematous papular rash
synonym: "Intermittent generalised erythematous papular rash" EXACT uk_spelling []
xref: UMLS:C2749995
is_a: HP:0200034 ! Papule

[Term]
id: HP:0007434
name: Plaque-like facial hemangioma
def: "Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hemangioma, facial, plaque-like" EXACT []
xref: UMLS:C1847884
is_a: HP:0000329 ! Facial hemangioma

[Term]
id: HP:0007435
name: obsolete Diffuse palmoplantar keratoderma
is_obsolete: true
replaced_by: HP:0007447

[Term]
id: HP:0007436
name: Hair-nail ectodermal dysplasia
is_obsolete: true
replaced_by: HP:0000968

[Term]
id: HP:0007437
name: Multiple cutaneous leiomyomas
def: "The presence of multiple leiomyomas of the skin." [https://orcid.org/0000-0002-0736-9199]
xref: NCIT:C3157
xref: UMLS:C1708350
is_a: HP:0008069 ! Neoplasm of the skin

[Term]
id: HP:0007438
name: Mottled pigmentation of the trunk and proximal extremities
xref: UMLS:C1851551
is_a: HP:0001070 ! Mottled pigmentation

[Term]
id: HP:0007439
name: Generalized keratosis follicularis
synonym: "Generalised keratosis follicularis" EXACT uk_spelling []
xref: UMLS:C4024879
is_a: HP:0011368 ! Epidermal thickening

[Term]
id: HP:0007440
name: Generalized hyperpigmentation
alt_id: HP:0007540
synonym: "Generalised hyperpigmentation" EXACT uk_spelling []
xref: UMLS:C4024878
is_a: HP:0000953 ! Hyperpigmentation of the skin

[Term]
id: HP:0007441
name: Hyperpigmented/hypopigmented macules
xref: UMLS:C4024877
is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin
is_a: HP:0012733 ! Macule

[Term]
id: HP:0007443
name: Partial albinism
alt_id: HP:0001044
def: "Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Congenital partial albinism on face, trunk, or limbs" EXACT []
synonym: "Congenital partial leucoderma" EXACT []
synonym: "Partial absent skin pigmentation" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:6479008
xref: SNOMEDCT_US:718122005
xref: UMLS:C0080024
is_a: HP:0001010 ! Hypopigmentation of the skin

[Term]
id: HP:0007446
name: Palmoplantar blistering
def: "A type of blistering that affects the skin of the palms of the hands and the soles of the feet." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024876
is_a: HP:0033800 ! Blistering by anatomical location
is_a: HP:0040211 ! Abnormal skin morphology of the palm
is_a: HP:0100872 ! Abnormality of the plantar skin of foot

[Term]
id: HP:0007447
name: Diffuse palmoplantar hyperkeratosis
alt_id: HP:0007435
def: "Diffuse abnormal thickening of the skin on the palms and soles." [PMID:17298101]
comment: The terms hyperkeratosis and keratoderma have been used interchangeably throughout the literature.
synonym: "Diffuse palmoplantar keratoderma" EXACT []
synonym: "Hyperkeratosis, diffuse palmoplantar" EXACT []
xref: UMLS:C4021575
is_a: HP:0000972 ! Palmoplantar hyperkeratosis

[Term]
id: HP:0007448
name: Hyperkeratosis over edematous areas
xref: UMLS:C1835253
is_a: HP:0000962 ! Hyperkeratosis
is_a: HP:0000969 ! Edema

[Term]
id: HP:0007449
name: Confetti-like hypopigmented macules
xref: UMLS:C1851705
is_a: HP:0020073 ! Hypopigmented macule

[Term]
id: HP:0007450
name: Increased groin pigmentation with raindrop depigmentation
xref: UMLS:C4024875
is_a: HP:0007400 ! Irregular hyperpigmentation
is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin

[Term]
id: HP:0007451
name: Ipsilateral lack of facial sweating
def: "Inability to sweat on the same side of the face that is affected by ptosis and miosis. This is a feature of Horner syndrome." [PMID:29763176]
xref: UMLS:C4024874
is_a: HP:0025276 ! Abnormality of skin adnexa physiology

[Term]
id: HP:0007452
name: Midface capillary hemangioma
alt_id: HP:0007611
synonym: "Midfacial capillary hemangioma" EXACT []
xref: UMLS:C1849377
is_a: HP:0000996 ! Facial capillary hemangioma

[Term]
id: HP:0007453
name: Flexural lichenification
def: "Lichenification affecting primarily flexural areas of the skin." [https://orcid.org/0000-0002-0736-9199]
comment: The parts of the skin that touch when a joint flexes (bends) are called the flexural surfaces.
synonym: "Lichenification in skin folds" EXACT []
xref: UMLS:C4024873
is_a: HP:0100725 ! Lichenification

[Term]
id: HP:0007455
name: Adermatoglyphia
xref: UMLS:C1852150
is_a: HP:0007477 ! Abnormal dermatoglyphics

[Term]
id: HP:0007456
name: Progressive reticulate hyperpigmentation
xref: UMLS:C4024872
is_a: HP:0007400 ! Irregular hyperpigmentation

[Term]
id: HP:0007457
name: Prominent veins on trunk
def: "Prominent thoracic and abdominal veins." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024871
is_a: HP:0001015 ! Prominent superficial veins

[Term]
id: HP:0007458
name: Focal hyperextensible skin
xref: UMLS:C4024870
is_a: HP:0000974 ! Hyperextensible skin

[Term]
id: HP:0007459
name: Generalized anhidrosis
synonym: "Generalised anhidrosis" EXACT uk_spelling []
synonym: "Generalised anhydrosis" EXACT uk_spelling []
synonym: "Generalised inability to sweat" EXACT uk_spelling []
synonym: "Generalized anhydrosis" EXACT []
synonym: "Generalized inability to sweat" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024869
is_a: HP:0025276 ! Abnormality of skin adnexa physiology

[Term]
id: HP:0007460
name: Autoamputation of digits
def: "The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology." []
xref: UMLS:C1852289
is_a: HP:0001218 ! Autoamputation
is_a: HP:0005922 ! Abnormal hand morphology

[Term]
id: HP:0007461
name: Hemangiomatosis
xref: SNOMEDCT_US:254785001
xref: SNOMEDCT_US:47669001
xref: UMLS:C1384590
is_a: HP:0001028 ! Hemangioma

[Term]
id: HP:0007462
name: Bitot spots of the conjunctiva
def: "Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot." [https://orcid.org/0000-0002-0736-9199]
comment: Bitot spots can be a feature of vitamin A deficiency.
synonym: "Bitot's spots" RELATED []
xref: SNOMEDCT_US:246871006
xref: UMLS:C0423178
xref: UMLS:C4024868
is_a: HP:0000502 ! Abnormal conjunctiva morphology

[Term]
id: HP:0007464
name: Sparse facial hair
def: "Reduced number or density of facial hair." [https://orcid.org/0000-0002-0736-9199]
synonym: "Sparse facial hair" EXACT layperson []
xref: UMLS:C2017869
is_a: HP:0008070 ! Sparse hair

[Term]
id: HP:0007465
name: Honeycomb palmoplantar hyperkeratosis
def: "Abnormal thickening of the skin on the palms and soles with an honeycomb pattern." [PMID:9326323]
xref: UMLS:C1866032
is_a: HP:0000972 ! Palmoplantar hyperkeratosis

[Term]
id: HP:0007466
name: Midfrontal capillary hemangioma
xref: UMLS:C1859339
is_a: HP:0000996 ! Facial capillary hemangioma

[Term]
id: HP:0007468
name: Perifollicular hyperkeratosis
def: "Increased amount of keratin (visible as white scales) surrounding hair follicles." [PMID:23044575]
subset: hposlim_core
xref: UMLS:C4024867
is_a: HP:0000962 ! Hyperkeratosis
is_a: HP:0031285 ! Abnormal perifollicular morphology

[Term]
id: HP:0007469
name: Palmoplantar cutis gyrata
def: "Cutis gyrata of palms and soles." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cutis gyrata of palms and soles" EXACT []
xref: UMLS:C1851797
is_a: HP:0007477 ! Abnormal dermatoglyphics
is_a: HP:0040211 ! Abnormal skin morphology of the palm
is_a: HP:0100872 ! Abnormality of the plantar skin of foot

[Term]
id: HP:0007470
name: Periarticular subcutaneous nodules
def: "Subcutaneous nodules that are located in the vicinity of joints." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C3806306
is_a: HP:0001482 ! Subcutaneous nodule

[Term]
id: HP:0007471
name: Axillary and groin hyperpigmentation and hypopigmentation
xref: UMLS:C4024866
is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin

[Term]
id: HP:0007473
name: Crusting erythematous dermatitis
xref: UMLS:C1868496
is_a: HP:0011123 ! Inflammatory abnormality of the skin

[Term]
id: HP:0007475
name: Congenital bullous ichthyosiform erythroderma
def: "An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet." [https://orcid.org/0000-0002-0736-9199]
comment: Epidermolytic hyperkeratosis can refer to the disease caused by mutations in the genes keratin 1 or keratin 10, but is here used to refer to the characteristic skin manifestations as a phenotypic feature.
synonym: "Bullous congenital ichthyosiform erythroderma" EXACT []
synonym: "Epidermolytic hyperkeratosis" EXACT []
xref: SNOMEDCT_US:239071005
xref: SNOMEDCT_US:254167000
xref: UMLS:C0079153
is_a: HP:0007431 ! Congenital ichthyosiform erythroderma

[Term]
id: HP:0007476
name: Anhidrotic ectodermal dysplasia
xref: SNOMEDCT_US:7731005
xref: UMLS:C1706004
is_a: HP:0000968 ! Ectodermal dysplasia

[Term]
id: HP:0007477
name: Abnormal dermatoglyphics
alt_id: HP:0007422
def: "An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormal fingerprints" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Dermatoglyphic abnormalities" EXACT []
xref: SNOMEDCT_US:83145004
xref: UMLS:C0432333
is_a: HP:0011356 ! Regional abnormality of skin

[Term]
id: HP:0007479
name: Congenital nonbullous ichthyosiform erythroderma
alt_id: HP:0001021
alt_id: HP:0007388
alt_id: HP:0007512
alt_id: HP:0007619
alt_id: HP:0007625
def: "The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales." [https://orcid.org/0009-0006-4530-3154]
synonym: "Collodion baby" EXACT []
synonym: "Congenital lamellar ichthyosis" EXACT []
synonym: "Congenital non-bullous ichthyosis" EXACT []
synonym: "Ichthyosis lammellaris" EXACT []
synonym: "Ichthyosis, congenital, nonblistering" EXACT []
synonym: "Nonbullous congenital ichthyosiform erythroderma" EXACT []
synonym: "Nonbullous congenital ichthyosis" EXACT []
xref: SNOMEDCT_US:205550003
xref: SNOMEDCT_US:267372009
xref: SNOMEDCT_US:268245001
xref: UMLS:C0079154
is_a: HP:0007431 ! Congenital ichthyosiform erythroderma

[Term]
id: HP:0007480
name: Decreased sweating due to autonomic dysfunction
xref: UMLS:C1868527
is_a: HP:0000966 ! Hypohidrosis

[Term]
id: HP:0007481
name: Hyperpigmented nevi
xref: UMLS:C0746889
is_a: HP:0000995 ! Melanocytic nevus

[Term]
id: HP:0007482
name: Generalized papillary lesions
synonym: "Generalised papillary lesions" EXACT uk_spelling []
xref: UMLS:C4024865
is_a: HP:0011354 ! Generalized abnormality of skin

[Term]
id: HP:0007483
name: Depigmentation/hyperpigmentation of skin
xref: UMLS:C4024864
is_a: HP:0001000 ! Abnormality of skin pigmentation

[Term]
id: HP:0007485
name: Absence of subcutaneous fat
alt_id: HP:0007519
def: "Lack of subcutaneous adipose tissue." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent fat below the skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "General absence of subcutaneous fat" EXACT []
synonym: "Lack of fatty tissue below the skin" EXACT layperson []
xref: UMLS:C0241267
xref: UMLS:C4024855
is_a: HP:0008887 ! Adipose tissue loss

[Term]
id: HP:0007486
name: Cavernous hemangioma of the face
xref: NCIT:C3086
xref: UMLS:C1332863
is_a: HP:0001048 ! Cavernous hemangioma

[Term]
id: HP:0007488
name: Diffuse skin atrophy
xref: UMLS:C4024863
is_a: HP:0004334 ! Dermal atrophy

[Term]
id: HP:0007489
name: Diffuse telangiectasia
alt_id: HP:0007405
def: "Telangiectases (small dilated blood vessels) with a diffuse localization." [https://orcid.org/0000-0002-0736-9199]
synonym: "Diffuse telangiectases" EXACT []
synonym: "Telangiectases, random body distribution" EXACT []
xref: SNOMEDCT_US:125279001
xref: UMLS:C1265776
is_a: HP:0001009 ! Telangiectasia

[Term]
id: HP:0007490
name: Linear arrays of macular hyperkeratoses in flexural areas
xref: UMLS:C1866031
is_a: HP:0000962 ! Hyperkeratosis

[Term]
id: HP:0007494
name: Discrete 2 to 5-mm hyper- and hypopigmented macules
xref: UMLS:C1851552
is_a: HP:0007441 ! Hyperpigmented/hypopigmented macules

[Term]
id: HP:0007495
name: Prematurely aged appearance
alt_id: HP:0001599
synonym: "Precociously senile appearance" EXACT layperson []
synonym: "Prematurely aged appearance" EXACT layperson []
xref: UMLS:C1857656
is_a: HP:0011354 ! Generalized abnormality of skin

[Term]
id: HP:0007497
name: Focal friction-related palmoplantar hyperkeratosis
def: "Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hyperkeratosis, palmoplantar, focal friction-related" EXACT []
xref: UMLS:C1835654
is_a: HP:0000972 ! Palmoplantar hyperkeratosis

[Term]
id: HP:0007499
name: Recurrent staphylococcal infections
def: "Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections." [https://orcid.org/0000-0001-7941-2961]
synonym: "Recurrent staphylococcal infections" EXACT layperson []
xref: UMLS:C4024862
is_a: HP:0002718 ! Recurrent bacterial infections

[Term]
id: HP:0007500
name: Decreased number of sweat glands
alt_id: HP:0007555
alt_id: HP:0007594
def: "The presence of fewer than normal sweat glands." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased sweat glands" EXACT layperson []
synonym: "Decreased sweat pores" EXACT layperson []
xref: UMLS:C4021574
is_a: HP:0000971 ! Abnormal sweat gland morphology

[Term]
id: HP:0007501
name: Streaks of hyperkeratosis along each finger onto the palm
xref: UMLS:C4024861
is_a: HP:0000962 ! Hyperkeratosis

[Term]
id: HP:0007502
name: Follicular hyperkeratosis
alt_id: HP:0007600
def: "A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Hyperkeratosis follicularis" EXACT []
xref: SNOMEDCT_US:238629004
xref: SNOMEDCT_US:402341008
xref: SNOMEDCT_US:81845009
xref: UMLS:C0334013
is_a: HP:0000962 ! Hyperkeratosis

[Term]
id: HP:0007503
name: Generalized ichthyosis
synonym: "Generalised ichthyosis" EXACT uk_spelling []
xref: UMLS:C3552528
is_a: HP:0008064 ! Ichthyosis

[Term]
id: HP:0007504
name: Diffuse slow skin atrophy
xref: UMLS:C4024860
is_a: HP:0007488 ! Diffuse skin atrophy

[Term]
id: HP:0007505
name: Progressive hyperpigmentation
xref: UMLS:C4024859
is_a: HP:0000953 ! Hyperpigmentation of the skin

[Term]
id: HP:0007506
name: Congenital absence of skin of limbs
synonym: "Missing skin on limbs since birth" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024858
is_a: HP:0007383 ! Congenital localized absence of skin

[Term]
id: HP:0007508
name: Punctate palmar hyperkeratosis
def: "Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands." []
xref: UMLS:C4024857
is_a: HP:0010765 ! Palmar hyperkeratosis

[Term]
id: HP:0007509
name: Patchy hypo- and hyperpigmentation
alt_id: HP:0007487
synonym: "Patchy hypo- and hyper-pigmentation" EXACT []
xref: UMLS:C4021573
is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin

[Term]
id: HP:0007510
name: Focal dermal aplasia/hypoplasia
xref: UMLS:C1834069
is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin

[Term]
id: HP:0007511
name: Mottled pigmentation of photoexposed areas
xref: UMLS:C3151964
is_a: HP:0001070 ! Mottled pigmentation

[Term]
id: HP:0007513
name: Generalized hypopigmentation
alt_id: HP:0000984
alt_id: HP:0007419
subset: hposlim_core
synonym: "Fair skin" EXACT layperson []
synonym: "Generalised hypopigmentation" EXACT uk_spelling []
synonym: "Pale pigmentation" EXACT layperson []
xref: UMLS:C1849923
is_a: HP:0001010 ! Hypopigmentation of the skin

[Term]
id: HP:0007514
name: Edema of the dorsum of hands
alt_id: HP:0007528
def: "An abnormal accumulation of fluid beneath the skin on the back of the hands." [https://orcid.org/0000-0002-0736-9199]
synonym: "Edema of dorsum of hands" EXACT []
synonym: "Oedema of dorsum of hands" EXACT uk_spelling []
synonym: "Oedema of the dorsum of hands" EXACT uk_spelling []
xref: MEDDRA:10058204 "Oedema hands"
xref: SNOMEDCT_US:443710002
xref: UMLS:C2732374
xref: UMLS:C2751873
is_a: HP:0000969 ! Edema

[Term]
id: HP:0007515
name: Hypoplastic pilosebaceous units
xref: UMLS:C1832454
is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin

[Term]
id: HP:0007516
name: Redundant skin on fingers
def: "Loose and sagging skin of the fingers." [https://orcid.org/0000-0002-0736-9199]
synonym: "Extra skin on fingers" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024856
is_a: HP:0001582 ! Redundant skin

[Term]
id: HP:0007517
name: Palmoplantar cutis laxa
alt_id: HP:0001016
def: "Loose, wrinkled skin of hands and feet." [https://orcid.org/0000-0002-0736-9199]
synonym: "Excessive wrinkled skin of palms and soles" EXACT layperson []
synonym: "Furrowed palms and soles" EXACT []
synonym: "Increased wrinkles of palms and soles" EXACT layperson []
synonym: "Wrinkled palms and soles" EXACT layperson []
synonym: "Wrinkled skin of hands and feet" EXACT layperson []
xref: UMLS:C1856714
is_a: HP:0000973 ! Cutis laxa
is_a: HP:0007605 ! Excessive wrinkling of palmar skin
is_a: HP:0100872 ! Abnormality of the plantar skin of foot

[Term]
id: HP:0007519
name: obsolete Lack of subcutaneous fatty tissue
is_obsolete: true
replaced_by: HP:0007485

[Term]
id: HP:0007521
name: Irregular hyperpigmentation of back
xref: UMLS:C4024854
is_a: HP:0007400 ! Irregular hyperpigmentation

[Term]
id: HP:0007522
name: Increased number of skin folds
synonym: "Increased number of skin folds" EXACT layperson []
xref: UMLS:C4024853
is_a: HP:0008067 ! Abnormally lax or hyperextensible skin

[Term]
id: HP:0007524
name: Atypical neurofibromatosis
xref: UMLS:C0220695
is_a: HP:0001067 ! Neurofibroma

[Term]
id: HP:0007525
name: Yellow subcutaneous tissue covered by thin, scaly skin
xref: UMLS:C1850533
is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue

[Term]
id: HP:0007526
name: Hypopigmented skin patches on arms
synonym: "Hypopigmented upper extremeity skin patches" EXACT []
synonym: "Patchy loss of skin color on arms" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Patchy loss of skin colour on arms" EXACT uk_spelling []
xref: UMLS:C4024852
is_a: HP:0001053 ! Hypopigmented skin patches

[Term]
id: HP:0007529
name: Hidrotic ectodermal dysplasia
xref: SNOMEDCT_US:54209007
xref: UMLS:C0162361
is_a: HP:0000968 ! Ectodermal dysplasia

[Term]
id: HP:0007530
name: Punctate palmoplantar hyperkeratosis
xref: UMLS:C4024851
is_a: HP:0000972 ! Palmoplantar hyperkeratosis

[Term]
id: HP:0007534
name: Congenital posterior occipital alopecia
def: "Loss of hair in the occipital region of the scalp with congenital onset." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024850
is_a: HP:0011361 ! Congenital abnormal hair pattern

[Term]
id: HP:0007535
name: Hypopigmented streaks
xref: UMLS:C1866244
is_a: HP:0001010 ! Hypopigmentation of the skin

[Term]
id: HP:0007536
name: Aplasia cutis congenita of midline scalp vertex
xref: UMLS:C4024849
is_a: HP:0004471 ! Aplasia cutis congenita over the scalp vertex

[Term]
id: HP:0007537
name: Severe photosensitivity
def: "A severe degree of photosensitivity of the skin." [https://orcid.org/0000-0002-0736-9199]
synonym: "Severe sun sensitivity" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1849186
is_a: HP:0000992 ! Cutaneous photosensitivity

[Term]
id: HP:0007541
name: Frontal cutaneous lipoma
def: "Presence of a cutaneous lipoma on the forehead." [https://orcid.org/0000-0002-0736-9199]
xref: NCIT:C3192
xref: UMLS:C1850970
is_a: HP:0008069 ! Neoplasm of the skin
is_a: HP:0012032 ! Lipoma

[Term]
id: HP:0007542
name: Absent pigmentation of the ventral chest
def: "Lack of skin pigmentation (coloring) of the anterior chest." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024848
is_a: HP:0040007 ! Absent pigmentation of chest

[Term]
id: HP:0007543
name: obsolete Epidermal hyperkeratosis
synonym: "Increased thickness of skin epidermis" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1848773
is_obsolete: true
replaced_by: HP:0000962

[Term]
id: HP:0007544
name: Piebald skin depigmentation
def: "Congenital large depigmented (white) macule of irergular rhomboid shape. Piebald skin depigmentation generally presents with multiple such macules in the affected individual. There may be smaller (5-15mm), discrete, skin-colored and hyperpigmented macules interspersed within the depigmented macules." [https://orcid.org/0000-0002-0736-9199]
comment: Piebaldism (OMIM:172800) generally is characterized by both Piebald skin depigmentation and White forelock, which should be coded separately.
synonym: "Piebaldism" EXACT []
xref: SNOMEDCT_US:6479008
xref: SNOMEDCT_US:718122005
xref: UMLS:C0080024
is_a: HP:0001010 ! Hypopigmentation of the skin

[Term]
id: HP:0007545
name: Congenital palmoplantar hyperkeratosis
alt_id: HP:0007597
def: "Abnormal thickening of the skin on the palms and soles that is present at birth." []
synonym: "Congenital palmoplantar keratoderma" EXACT []
synonym: "Congenital palmoplantar keratodermia" EXACT []
synonym: "Congenital palmoplantar keratosis" EXACT []
xref: UMLS:C1855633
is_a: HP:0000972 ! Palmoplantar hyperkeratosis

[Term]
id: HP:0007546
name: Linear hyperpigmentation
xref: UMLS:C3278658
is_a: HP:0007400 ! Irregular hyperpigmentation

[Term]
id: HP:0007548
name: obsolete Palmoplantar keratosis with erythema and scale
is_obsolete: true
replaced_by: HP:0000972

[Term]
id: HP:0007549
name: Desquamation of skin soon after birth
xref: UMLS:C1842714
is_a: HP:0025723 ! Abnormal fetal skin morphology

[Term]
id: HP:0007550
name: Hypohidrosis or hyperhidrosis
synonym: "Lack of sweating or excessive sweating" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021831
is_a: HP:0025276 ! Abnormality of skin adnexa physiology

[Term]
id: HP:0007552
name: Abnormal subcutaneous fat tissue distribution
synonym: "Abnormal fat tissue distribution below the skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1859347
is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue

[Term]
id: HP:0007553
name: Congenital symmetrical palmoplantar keratosis
xref: UMLS:C1855459
is_a: HP:0000972 ! Palmoplantar hyperkeratosis

[Term]
id: HP:0007554
name: Confetti hypopigmentation pattern of lower leg skin
synonym: "Confetti hypopigmentation pattern of lower leg skin" EXACT layperson []
xref: UMLS:C4024847
is_a: HP:0001010 ! Hypopigmentation of the skin

[Term]
id: HP:0007556
name: Plantar hyperkeratosis
alt_id: HP:0007382
alt_id: HP:0007445
def: "Hyperkeratosis affecting the sole of the foot." [https://orcid.org/0000-0002-0736-9199]
synonym: "Plantar hyperkeratoses" EXACT []
xref: UMLS:C1856954
is_a: HP:0000962 ! Hyperkeratosis
is_a: HP:0100872 ! Abnormality of the plantar skin of foot

[Term]
id: HP:0007559
name: Localized epidermolytic hyperkeratosis
synonym: "Localised epidermolytic hyperkeratosis" EXACT uk_spelling []
xref: UMLS:C1721006
is_a: HP:0008064 ! Ichthyosis

[Term]
id: HP:0007560
name: Unusual dermatoglyphics
xref: UMLS:C4024846
is_a: HP:0005882 ! Dermatoglyphic variants

[Term]
id: HP:0007561
name: obsolete Telangiectases in sun-exposed and nonexposed skin
is_obsolete: true
replaced_by: HP:0100585

[Term]
id: HP:0007565
name: Multiple cafe-au-lait spots
alt_id: HP:0007416
def: "The presence of six or more cafe-au-lait spots." [https://orcid.org/0000-0003-1773-4011]
synonym: "Multiple birthmarks" BROAD layperson []
synonym: "Multiple flat light-brown marks on skin" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1861975
is_a: HP:0000957 ! Cafe-au-lait spot

[Term]
id: HP:0007566
name: Index finger dermatoglyphic radial loop
xref: UMLS:C4024845
is_a: HP:0005882 ! Dermatoglyphic variants

[Term]
id: HP:0007569
name: Generalized seborrheic dermatitis
def: "Seborrheic dermatitis that is not localized to any one particular region." []
synonym: "Generalised seborrheic dermatitis" EXACT uk_spelling []
synonym: "Generalised seborrheic eczema" EXACT uk_spelling []
synonym: "Generalized seborrheic eczema" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024844
is_a: HP:0001051 ! Seborrheic dermatitis

[Term]
id: HP:0007570
name: Hyperkeratosis lenticularis perstans
def: "Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa." [https://orcid.org/0000-0002-0736-9199]
synonym: "Flegel disease" RELATED []
xref: SNOMEDCT_US:28488007
xref: UMLS:C0263420
is_a: HP:0000962 ! Hyperkeratosis

[Term]
id: HP:0007572
name: Hyperpigmented streaks
xref: UMLS:C1866245
is_a: HP:0007400 ! Irregular hyperpigmentation

[Term]
id: HP:0007573
name: Late onset atopic dermatitis
def: "A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis." [PMID:23984225, PMID:27904186]
synonym: "Late onset baby eczema" RELATED layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4024843
xref: UMLS:C4280439
is_a: HP:0001047 ! Atopic dermatitis

[Term]
id: HP:0007574
name: Generalized bronze hyperpigmentation
synonym: "Bronze skin" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Generalised bronze hyperpigmentation" EXACT uk_spelling []
xref: UMLS:C2939074
xref: UMLS:C4024842
is_a: HP:0007440 ! Generalized hyperpigmentation

[Term]
id: HP:0007576
name: Palmar neurofibroma
def: "A neurofibroma (benign peripheral nerve sheath tumor) localized in the palm of the hand." []
synonym: "Palmar neurofibromas" EXACT plural_form []
xref: UMLS:C4024841
is_a: HP:0034761 ! Neurofibroma by anatomical location
is_a: HP:0100871 ! Abnormal palm morphology

[Term]
id: HP:0007581
name: Mediosternal, longitudinal streak of hypopigmentation
xref: UMLS:C4024840
is_a: HP:0007535 ! Hypopigmented streaks

[Term]
id: HP:0007583
name: Telangiectasia macularis eruptiva perstans
xref: SNOMEDCT_US:8214000
xref: UMLS:C0263402
is_a: HP:0001009 ! Telangiectasia

[Term]
id: HP:0007585
name: Skin fragility with non-scarring blistering
xref: UMLS:C1851562
is_a: HP:0001030 ! Fragile skin

[Term]
id: HP:0007586
name: Telangiectases producing 'marbled' skin
xref: UMLS:C4024839
is_a: HP:0100585 ! Telangiectasia of the skin

[Term]
id: HP:0007587
name: Numerous pigmented freckles
synonym: "Numerous pigmented freckles" EXACT layperson []
xref: UMLS:C1968565
is_a: HP:0001000 ! Abnormality of skin pigmentation

[Term]
id: HP:0007588
name: Reticular hyperpigmentation
alt_id: HP:0007579
def: "Increased pigmentation of the skin with a netlike (reticular) pattern." [https://orcid.org/0000-0002-0736-9199]
synonym: "Reticulate hyperpigmentation" EXACT []
xref: UMLS:C1851972
is_a: HP:0007400 ! Irregular hyperpigmentation

[Term]
id: HP:0007589
name: Aplasia cutis congenita on trunk or limbs
def: "A developmental defect resulting in the congenital absence of skin on the trunk or the limbs." [https://orcid.org/0000-0002-0736-9199]
comment: In future versions of the HPO this term will be made obsolete and will be replaced by terms for Aplasia cutis congenita on trunk and a term for Aplasia cutis congenita on the limbs.
xref: UMLS:C1863496
is_a: HP:0001057 ! Aplasia cutis congenita

[Term]
id: HP:0007590
name: Aplasia cutis congenita over posterior parietal area
xref: UMLS:C1863495
is_a: HP:0004476 ! Aplasia cutis congenita over parietal area

[Term]
id: HP:0007592
name: Aplasia/Hypoplasia of the eccrine sweat glands
def: "Absence or developmental hypoplasia of the eccrine sweat glands." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic-absent eccrine sweat glands" EXACT []
xref: UMLS:C1844618
is_a: HP:0011135 ! Aplasia/Hypoplasia of the sweat glands

[Term]
id: HP:0007595
name: Redundant skin in infancy
synonym: "Excess skin in infancy" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1835587
is_a: HP:0001582 ! Redundant skin

[Term]
id: HP:0007596
name: Painful subcutaneous lipomas
def: "The presence of multiple subcutaneous lipoma that cause pain." [https://orcid.org/0000-0002-0736-9199]
synonym: "Painful noncancerous fat tissue tumor under the skin" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Painful noncancerous fat tissue tumour under the skin" EXACT uk_spelling []
xref: UMLS:C4024838
is_a: HP:0001031 ! Subcutaneous lipoma

[Term]
id: HP:0007597
name: obsolete Congenital palmoplantar keratodermia
is_obsolete: true
replaced_by: HP:0007545

[Term]
id: HP:0007598
name: Bilateral single transverse palmar creases
def: "The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1862095
is_a: HP:0000954 ! Single transverse palmar crease

[Term]
id: HP:0007599
name: Generalized reticulate brown pigmentation
synonym: "Generalised reticulate brown pigmentation" EXACT uk_spelling []
xref: UMLS:C4024836
is_a: HP:0007440 ! Generalized hyperpigmentation

[Term]
id: HP:0007601
name: Midline facial capillary hemangioma
xref: UMLS:C1840310
is_a: HP:0000996 ! Facial capillary hemangioma

[Term]
id: HP:0007602
name: Complex palmar dermatoglyphic pattern
xref: UMLS:C4024835
is_a: HP:0001018 ! Abnormal palmar dermatoglyphics

[Term]
id: HP:0007603
name: Freckles in sun-exposed areas
synonym: "Freckles in sun-exposed areas" EXACT layperson []
xref: UMLS:C1859923
is_a: HP:0005586 ! Hyperpigmentation in sun-exposed areas

[Term]
id: HP:0007605
name: Excessive wrinkling of palmar skin
alt_id: HP:0007531
synonym: "Redundant, wrinkled skin of palms" EXACT layperson []
xref: UMLS:C4021572
is_a: HP:0007392 ! Excessive wrinkled skin
is_a: HP:0040211 ! Abnormal skin morphology of the palm

[Term]
id: HP:0007606
name: Multiple cutaneous malignancies
xref: UMLS:C4024834
is_a: HP:0008069 ! Neoplasm of the skin

[Term]
id: HP:0007607
name: Hypohidrotic ectodermal dysplasia
xref: SNOMEDCT_US:239007005
xref: SNOMEDCT_US:7731005
xref: UMLS:C0162359
is_a: HP:0000968 ! Ectodermal dysplasia

[Term]
id: HP:0007608
name: Abnormal palmar dermal ridges
xref: UMLS:C4024833
is_a: HP:0001018 ! Abnormal palmar dermatoglyphics

[Term]
id: HP:0007609
name: Hypoproteinemic edema
def: "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoproteinemic oedema" EXACT uk_spelling []
xref: UMLS:C4024832
is_a: HP:0000969 ! Edema

[Term]
id: HP:0007610
name: Blotching pigmentation of the skin
xref: UMLS:C4024831
is_a: HP:0001000 ! Abnormality of skin pigmentation

[Term]
id: HP:0007613
name: Spinous keratoses of palms and soles
xref: UMLS:C4024830
is_a: HP:0000972 ! Palmoplantar hyperkeratosis

[Term]
id: HP:0007616
name: Nevus flammeus nuchae
def: "Naevus flammeus localized in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns." [https://orcid.org/0009-0006-4530-3154]
comment: The salmon patch is the most common capillary malformation, occurring in up to 50% of all neonates. It is a pinkish macule that typically affects the back of the neck (stork bite) or the glabella (angel's kiss), although it can affect the eyelids, the nose, the upper lip, and the sacral area.
synonym: "Angel's kiss" RELATED layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Port-wine stain on neck" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Salmon patch" RELATED layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Stork bite" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C0860468
xref: UMLS:C4024829
xref: UMLS:C4280438
is_a: HP:0001052 ! Nevus flammeus

[Term]
id: HP:0007617
name: Fine, reticulate skin pigmentation
xref: UMLS:C4024828
is_a: HP:0001000 ! Abnormality of skin pigmentation

[Term]
id: HP:0007618
name: Subcutaneous calcification
def: "Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument)." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Skin calcification" EXACT layperson []
xref: SNOMEDCT_US:17141001
xref: UMLS:C0263625
is_a: HP:0010766 ! Ectopic calcification
is_a: HP:0011354 ! Generalized abnormality of skin

[Term]
id: HP:0007620
name: Cutaneous leiomyoma
alt_id: HP:0007507
def: "The presence of leiomyoma of the skin." [https://orcid.org/0000-0002-0736-9199]
comment: Cutaneous leiomyomata are benign soft tissue neoplasms that arise from smooth muscle cells in the skin.
synonym: "Cutaneous leiomyomas" EXACT []
synonym: "Cutaneous leiomyomata" EXACT []
xref: NCIT:C3157
xref: SNOMEDCT_US:254767008
xref: UMLS:C0346064
is_a: HP:0008069 ! Neoplasm of the skin

[Term]
id: HP:0007621
name: Telangiectasia of extensor surfaces
xref: UMLS:C4024827
is_a: HP:0100585 ! Telangiectasia of the skin

[Term]
id: HP:0007623
name: Pigmentation anomalies of sun-exposed skin
synonym: "Abnormal pigmentation in sun-exposed skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024826
is_a: HP:0001000 ! Abnormality of skin pigmentation

[Term]
id: HP:0007626
name: Mandibular osteomyelitis
alt_id: HP:0005869
def: "Osteomyelitis of the lower jaw." []
synonym: "Lower jaw bone infection" EXACT layperson []
synonym: "Osteomyelitis, especially of the mandible" EXACT []
xref: SNOMEDCT_US:109695005
xref: UMLS:C1290708
is_a: HP:0000277 ! Abnormal mandible morphology
is_a: HP:0002754 ! Osteomyelitis

[Term]
id: HP:0007627
name: Mandibular condyle aplasia
synonym: "Absence of the condylar head of mandible" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Absence of the condylar neck of mandible" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Absence of the condylar process of mandible" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Agenesis of condylar head of mandible" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Agenesis of condylar neck of mandible" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Agenesis of condylar process of mandible" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of condylar head of mandible" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of condylar neck of mandible" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of the condylar process of mandible" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of condylar head of mandible" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of condylar neck of mandible" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of condylar process of mandible" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:235119009
xref: UMLS:C0399570
xref: UMLS:C4280429
xref: UMLS:C4280430
xref: UMLS:C4280431
xref: UMLS:C4280432
xref: UMLS:C4280433
xref: UMLS:C4280434
xref: UMLS:C4280435
xref: UMLS:C4280436
xref: UMLS:C4280437
is_a: HP:0005790 ! Short mandibular condyles

[Term]
id: HP:0007628
name: Mandibular condyle hypoplasia
synonym: "Decreased size of condylar process of mandible" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of mandibular condyle" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplasia of condylar head of mandible" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplasia of condylar neck of mandible" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplasia of condylar process of mandible" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplasia of mandibular condyle" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplasia of subcondylar region of mandible" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypotrophic condylar process of mandible" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypotrophic mandibular condyle" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Small condylar head of mandible" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Small condylar neck of mandible" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Small mandibular condyle" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:235120003
xref: UMLS:C0399572
xref: UMLS:C4280423
xref: UMLS:C4280424
xref: UMLS:C4280425
xref: UMLS:C4280426
xref: UMLS:C4280427
xref: UMLS:C4280428
is_a: HP:0005790 ! Short mandibular condyles

[Term]
id: HP:0007633
name: Bilateral microphthalmos
alt_id: HP:0001143
alt_id: HP:0001585
def: "A developmental anomaly characterized by abnormal smallness of both eyes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormally small eyeball on both sides" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Bilateral nanophthalmos" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of eyeballs" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of globes of eyes" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Microphthalmia, bilateral" EXACT []
xref: UMLS:C1843496
xref: UMLS:C4280421
xref: UMLS:C4280422
is_a: HP:0000568 ! Microphthalmia

[Term]
id: HP:0007634
name: Nonarteritic anterior ischemic optic neuropathy
def: "An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disk or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates." [https://orcid.org/0000-0002-0736-9199, PMID:17698200]
comment: Nonarteritic anterior ischemic optic neuropathy is caused by infarction of the laminar or retrolaminar portion of the optic nerve head supplied by the short posterior ciliary arteries. Clinically NAION is characterized by sudden, usually painless, loss of vision in one or both eyes. Examination findings include decreased visual acuity, a visual field defect, decreased color vision, a relative afferent pupillary defect, and optic disc swelling.
synonym: "Nonarteritic anterior ischaemic optic neuropathy" EXACT uk_spelling []
xref: UMLS:C1852242
is_a: HP:0001138 ! Optic neuropathy

[Term]
id: HP:0007641
name: Dyschromatopsia
def: "A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments." [HPO_CONTRIBUTOR:DDD_ncarter]
synonym: "Color blindness" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Colour blindness" EXACT uk_spelling []
xref: UMLS:C0858618
is_a: HP:0000551 ! Color vision defect

[Term]
id: HP:0007642
name: Congenital stationary night blindness
alt_id: HP:0007684
alt_id: HP:0007861
alt_id: HP:0007953
def: "A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset." [https://orcid.org/0000-0002-0736-9199]
comment: Congenital stationary night blindness is prinicipally the result of dysfunction of the rod photoreceptors.
synonym: "Congenital night blindness" EXACT []
synonym: "Night blindness since birth" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Night blindness, congenital" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Night blindness, congenital stationary" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Night blindness, congenital stationary, complete" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Night blindness, stationary" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Static congenital hemeralopia" EXACT []
xref: SNOMEDCT_US:193687000
xref: SNOMEDCT_US:232061009
xref: UMLS:C0339535
xref: UMLS:C1306122
xref: UMLS:C3551052
xref: UMLS:C4048798
is_a: HP:0000556 ! Retinal dystrophy
is_a: HP:0000662 ! Nyctalopia

[Term]
id: HP:0007643
name: Peripheral tractional retinal detachment
def: "Tractional retinal detachment at the periphery of the retina." []
synonym: "Peripheral traction retinal detachment" EXACT []
synonym: "Tractional retinal detachment at the periphery of the retina" EXACT []
xref: UMLS:C4024825
is_a: HP:0007917 ! Tractional retinal detachment

[Term]
id: HP:0007646
name: Absent lower eyelashes
def: "Lack of eyelashes on the lower lid." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent lower eyelashes" EXACT layperson []
synonym: "Agenesis of lower eyelashes" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Aplasia of lower eyelashes" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Atrichia of lower eyelashes" EXACT []
synonym: "Failure of development of lower eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4024824
is_a: HP:0000561 ! Absent eyelashes

[Term]
id: HP:0007647
name: Congenital extraocular muscle anomaly
def: "Congenital abnormality of the extraocular muscles." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024823
is_a: HP:0008049 ! Abnormality of the extraocular muscles

[Term]
id: HP:0007648
name: Punctate cataract
def: "A type of cataract with punctate opacities of the lens." [https://orcid.org/0000-0002-0736-9199]
synonym: "Punctate lenticular opacities" RELATED []
xref: SNOMEDCT_US:40714009
xref: UMLS:C0271165
xref: UMLS:C1969675
is_a: HP:0010920 ! Zonular cataract

[Term]
id: HP:0007649
name: Congenital hypertrophy of retinal pigment epithelium
def: "Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium." [HPO_CONTRIBUTOR:DDD_ncarter]
comment: This feature is found in around 3-5% of the population and is of no functional significance.
xref: SNOMEDCT_US:232074003
xref: UMLS:C0339555
is_a: HP:0011512 ! Hyperpigmentation of the fundus

[Term]
id: HP:0007650
name: Progressive ophthalmoplegia
xref: UMLS:C2062713
is_a: HP:0000602 ! Ophthalmoplegia

[Term]
id: HP:0007651
name: Ectropion of lower eyelids
synonym: "Everted lower eyelids" RELATED []
synonym: "Lower eyelid folded out" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Lower eyelid turned out" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:95758006
xref: UMLS:C0521736
xref: UMLS:C4020808
is_a: HP:0000656 ! Ectropion

[Term]
id: HP:0007654
name: obsolete Retinal striation
is_obsolete: true

[Term]
id: HP:0007655
name: Eversion of lateral third of lower eyelids
xref: UMLS:C1835801
is_a: HP:0000656 ! Ectropion

[Term]
id: HP:0007656
name: Lacrimal gland aplasia
def: "A congenital defect of development characterized by absence of the lacrimal gland." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent tear gland" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024822
is_a: HP:0008038 ! Aplastic/hypoplastic lacrimal glands

[Term]
id: HP:0007657
name: Diffuse nuclear cataract
def: "Opacity of the entire lens nucleus." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024821
is_a: HP:0100018 ! Nuclear cataract

[Term]
id: HP:0007658
name: Large hyperpigmented retinal spots
xref: UMLS:C4024820
is_a: HP:0011512 ! Hyperpigmentation of the fundus

[Term]
id: HP:0007659
name: obsolete Decreased retinal pigmentation with dispersion
is_obsolete: true
consider: HP:0007703

[Term]
id: HP:0007661
name: Abnormality of chorioretinal pigmentation
xref: UMLS:C4024819
is_a: HP:0000532 ! Abnormal chorioretinal morphology

[Term]
id: HP:0007663
name: Reduced visual acuity
alt_id: HP:0001091
alt_id: HP:0007693
alt_id: HP:0007739
alt_id: HP:0007969
alt_id: HP:0008008
synonym: "Decreased central vision" EXACT []
synonym: "Decreased clarity of vision" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Decreased visual acuity" EXACT []
synonym: "Poor visual acuity" EXACT []
xref: SNOMEDCT_US:13164000
xref: UMLS:C0234632
is_a: HP:0000505 ! Visual impairment

[Term]
id: HP:0007665
name: Curly eyelashes
def: "Abnormally curly or curved eyelashes." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Curly eyelashes" EXACT layperson []
xref: UMLS:C2673670
is_a: HP:0000499 ! Abnormal eyelash morphology

[Term]
id: HP:0007667
name: Peripheral cystoid retinal degeneration
def: "Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly." [https://orcid.org/0000-0003-0986-4123]
synonym: "Cystic retinal degeneration" EXACT []
synonym: "Peripheral cystoid degeneration" EXACT []
xref: UMLS:C1839362
is_a: HP:0007769 ! Peripheral retinal degeneration

[Term]
id: HP:0007668
name: Impaired pursuit initiation and maintenance
xref: UMLS:C1969722
is_a: HP:0000617 ! Abnormality of ocular smooth pursuit

[Term]
id: HP:0007670
name: Abnormal vestibulo-ocular reflex
def: "An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude." [https://orcid.org/0000-0002-0736-9199, PMID:3625219]
synonym: "Abnormal vestibuloocular reflex" EXACT []
xref: UMLS:C4021571
is_a: HP:0001751 ! Abnormal vestibular function

[Term]
id: HP:0007675
name: Progressive night blindness
synonym: "Progressive night blindness" EXACT layperson []
xref: UMLS:C4024818
is_a: HP:0000662 ! Nyctalopia

[Term]
id: HP:0007676
name: Hypoplasia of the iris
alt_id: HP:0000638
alt_id: HP:0007724
alt_id: HP:0007998
def: "Congenital underdevelopment of the iris." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Hypoplastic iris" EXACT []
synonym: "Iris hypoplasia" EXACT []
synonym: "Underdeveloped iris" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:95714006
xref: UMLS:C0344539
is_a: HP:0008053 ! Aplasia/Hypoplasia of the iris

[Term]
id: HP:0007677
name: Vitelliform-like macular lesions
alt_id: HP:0007878
def: "Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula." [https://orcid.org/0000-0001-8727-6592, PMID:18289629]
synonym: "Vitelliform macular dystrophy" RELATED []
synonym: "Vitelliform macular lesions" EXACT []
xref: SNOMEDCT_US:90036004
xref: UMLS:C0339510
xref: UMLS:C4024817
is_a: HP:0030500 ! Yellow/white lesions of the macula

[Term]
id: HP:0007678
name: Lacrimal duct stenosis
alt_id: HP:0007669
def: "Narrowing of a tear duct (lacrimal duct)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Narrowing of the tear duct" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Nasolacrimal duct stenosis" EXACT []
xref: SNOMEDCT_US:231841004
xref: UMLS:C0238300
is_a: HP:0000579 ! Nasolacrimal duct obstruction

[Term]
id: HP:0007680
name: Depigmented fundus
xref: UMLS:C4024816
is_a: HP:0007894 ! Hypopigmentation of the fundus

[Term]
id: HP:0007685
name: Peripheral retinal avascularization
xref: UMLS:C1851406
is_a: HP:0008046 ! Abnormal retinal vascular morphology

[Term]
id: HP:0007686
name: Abnormal pupillary function
def: "A functional abnormality of the pupil." [https://orcid.org/0000-0002-0736-9199]
comment: It is preferable to describe the functional defect precisely.
xref: SNOMEDCT_US:72124005
xref: UMLS:C0917967
is_a: HP:0012373 ! Abnormal eye physiology

[Term]
id: HP:0007687
name: Unilateral ptosis
def: "A unilateral form of ptosis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Dropping of one upper eyelid" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1866806
is_a: HP:0000508 ! Ptosis

[Term]
id: HP:0007688
name: Undetectable light- and dark-adapted electroretinogram
alt_id: HP:0003230
alt_id: HP:0008280
def: "Absence of the combined rod-and-cone response on electroretinogram." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent cone and rod functions by electroretinogram" EXACT []
synonym: "Absent rod-and cone-mediated responses on ERG" EXACT []
xref: UMLS:C4021570
is_a: HP:0008323 ! Abnormal light- and dark-adapted electroretinogram

[Term]
id: HP:0007690
name: Map-dot-fingerprint corneal dystrophy
xref: SNOMEDCT_US:32935005
xref: UMLS:C0271285
is_a: HP:0200020 ! Corneal erosion

[Term]
id: HP:0007691
name: obsolete Short curly eyelashes
is_obsolete: true
consider: HP:0007665
consider: HP:0010764

[Term]
id: HP:0007692
name: obsolete Nonnuclear polymorphic congenital cataract
is_obsolete: true
replaced_by: HP:0000519

[Term]
id: HP:0007695
name: Abnormal pupillary light reflex
def: "An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1970591
is_a: HP:0007686 ! Abnormal pupillary function

[Term]
id: HP:0007697
name: Hypoplasia of the lower eyelids
def: "Underdevelopment of the lower eyelid." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased size of lower eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypotrophic lower eyelid" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Short lower eyelid" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Small lower eyelid" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of lower eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4024814
xref: UMLS:C4280270
xref: UMLS:C4280420
is_a: HP:0430009 ! Hypoplasia of eyelid

[Term]
id: HP:0007698
name: obsolete Retinal pigment epithelial atrophy
is_obsolete: true

[Term]
id: HP:0007700
name: Ocular anterior segment dysgenesis
alt_id: HP:0007696
alt_id: HP:0007699
alt_id: HP:0008040
def: "Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin." [HPO_CONTRIBUTOR:DDD_ncarter]
comment: In anterior segment mesenchymal ocular dysgenesis (ASMOD), multiple tissues are affected, including the iris, cornea, and lens as well as the Schlemm's canal and trabecular meshwork drainage structures located at the anterior segment angle where the iris and cornea meet. These abnormalities may result from a primary defect in the migration and/or differentiation of the mesenchymal cells that contribute to development of the cornea, iris, and drainage structures.
synonym: "Anterior chamber cleavage defect" EXACT []
synonym: "Anterior chamber cleavage disorder" EXACT []
synonym: "Anterior chamber malformation" EXACT []
synonym: "Anterior chamber mesodermal anomalies" EXACT []
synonym: "Anterior segment developmental abnormality" EXACT []
synonym: "Anterior segment dysgenesis" EXACT []
synonym: "Anterior segment mesencyhmal dysgenesis" EXACT []
synonym: "Anterior segment ocular dysgenesis" EXACT []
xref: SNOMEDCT_US:65075004
xref: UMLS:C0266525
is_a: HP:0004328 ! Abnormal anterior eye segment morphology

[Term]
id: HP:0007702
name: obsolete Pigmentary retinal deposits
is_obsolete: true
replaced_by: HP:0000580

[Term]
id: HP:0007703
name: Abnormality of retinal pigmentation
alt_id: HP:0007741
alt_id: HP:0007743
alt_id: HP:0008051
synonym: "Abnormal retinal pigmentation" EXACT []
synonym: "Abnormality of retinal pigment epithelium" EXACT []
synonym: "Abnormality of RPE" EXACT []
synonym: "Abnormality of the retinal pigment epithelium" RELATED []
synonym: "Retinal pigmentary anomaly" EXACT []
xref: SNOMEDCT_US:421689001
xref: UMLS:C1720508
xref: UMLS:C1862475
is_a: HP:0000479 ! Abnormal retinal morphology

[Term]
id: HP:0007704
name: Paroxysmal involuntary eye movements
def: "Sudden-onset episode of abnormal, involuntary eye movements." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal eye movements, paroxysmal" EXACT []
xref: UMLS:C1847515
is_a: HP:0012547 ! Abnormal involuntary eye movements

[Term]
id: HP:0007705
name: Corneal degeneration
xref: SNOMEDCT_US:111521006
xref: UMLS:C0155118
is_a: HP:0000481 ! Abnormal cornea morphology

[Term]
id: HP:0007707
name: Congenital aphakia
def: "Absence of the crystalline lens of the eye as a result of a developmental defect." [https://orcid.org/0000-0002-0736-9199]
synonym: "Lens agenesis" EXACT []
xref: UMLS:C1853230
is_a: HP:0008063 ! Aplasia/Hypoplasia of the lens

[Term]
id: HP:0007708
name: Absent inner eyelashes
synonym: "Absent inner eyelashes" EXACT layperson []
xref: UMLS:C4024812
is_a: HP:0000561 ! Absent eyelashes

[Term]
id: HP:0007709
name: Band-shaped corneal dystrophy
def: "A type of genetically determined disease of the cornea with corneal lesions with a band-like shape." []
xref: SNOMEDCT_US:35055000
xref: UMLS:C0155120
is_a: HP:0001131 ! Corneal dystrophy

[Term]
id: HP:0007710
name: Peripheral vitreous opacities
xref: UMLS:C4024811
is_a: HP:0004327 ! Abnormal vitreous humor morphology

[Term]
id: HP:0007712
name: obsolete Choroidal dystrophy
is_obsolete: true
consider: HP:0001135

[Term]
id: HP:0007713
name: obsolete Juvenile zonular cataracts
is_obsolete: true
replaced_by: HP:0010920

[Term]
id: HP:0007715
name: Weak extraocular muscles
xref: UMLS:C1859436
is_a: HP:0000597 ! Ophthalmoparesis

[Term]
id: HP:0007716
name: Uveal melanoma
def: "A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid)." [https://orcid.org/0000-0002-0736-9199]
comment: WIth intraocular melanoma, the melanoma originates from melanocytic cells in the uveal layer, comprising the iris, ciliary body, and choroid.
synonym: "Intraocular melanoma" EXACT []
xref: NCIT:C3224
xref: UMLS:C0220633
is_a: HP:0002861 ! Melanoma
is_a: HP:0100012 ! Neoplasm of the eye

[Term]
id: HP:0007717
name: Chronic irritative conjunctivitis
def: "A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024810
is_a: HP:0000509 ! Conjunctivitis

[Term]
id: HP:0007720
name: Flat cornea
def: "Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cornea plana" EXACT []
xref: SNOMEDCT_US:204145006
xref: UMLS:C0344529
is_a: HP:0100691 ! Abnormality of the curvature of the cornea

[Term]
id: HP:0007721
name: Saccular conjunctival dilatations
def: "Presence of multiple dilatations (sac-like outpouchings) in the blood vessels of the conjunctiva." [https://orcid.org/0000-0002-0736-9199]
synonym: "Saccular conjunctival aneurysms" NARROW []
xref: UMLS:C3277464
is_a: HP:0008054 ! Abnormal morphology of the conjunctival vasculature

[Term]
id: HP:0007722
name: Retinal pigment epithelial atrophy
alt_id: HP:0007698
alt_id: HP:0008017
def: "Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1840457
is_a: HP:0001105 ! Retinal atrophy

[Term]
id: HP:0007727
name: Opacification of the corneal epithelium
def: "Lack of transparency of the corneal epithelium." [https://orcid.org/0000-0001-8727-6592]
synonym: "Superficial corneal opacities" EXACT []
xref: UMLS:C1849198
is_a: HP:0007957 ! Corneal opacity

[Term]
id: HP:0007728
name: Congenital miosis
def: "Abnormal (non-physiological) constriction of the pupil of congenital onset." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:400962005
xref: UMLS:C1303009
is_a: HP:0000616 ! Miosis

[Term]
id: HP:0007730
name: Iris hypopigmentation
def: "An abnormal reduction in the amount of pigmentation of the iris." [https://orcid.org/0000-0002-0736-9199]
synonym: "Light eye color" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Light eye colour" EXACT uk_spelling []
synonym: "Reduced iris pigmentation" EXACT []
xref: SNOMEDCT_US:247032003
xref: SNOMEDCT_US:70397008
xref: UMLS:C0154920
is_a: HP:0008034 ! Abnormal iris pigmentation

[Term]
id: HP:0007731
name: Chorioretinal dysplasia
def: "Abnormal development of the choroid and retina." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024809
is_a: HP:0000532 ! Abnormal chorioretinal morphology

[Term]
id: HP:0007732
name: Lacrimal gland hypoplasia
def: "Underdevelopment of the lacrimal gland." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic lacrimal gland" EXACT []
synonym: "Underdeveloped tear gland" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1863200
is_a: HP:0008038 ! Aplastic/hypoplastic lacrimal glands

[Term]
id: HP:0007733
name: Laterally curved eyebrow
xref: UMLS:C1846266
is_a: HP:0000534 ! Abnormal eyebrow morphology

[Term]
id: HP:0007734
name: Enlarged lacrimal glands
def: "Abnormally big lacrimal glands." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlarged tear gland" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1867030
is_a: HP:0011482 ! Abnormal lacrimal gland morphology

[Term]
id: HP:0007736
name: obsolete Pericentral retinal dystrophy
is_obsolete: true
consider: HP:0000556

[Term]
id: HP:0007737
name: Bone spicule pigmentation of the retina
alt_id: HP:0007644
alt_id: HP:0007683
alt_id: HP:0007823
def: "Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bone corpuscle fundus pigmentation" EXACT []
synonym: "Fundus with peripheral bony spicules" EXACT []
synonym: "Retinal 'bone corpuscle' pigmentation" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Retinal bone corpuscle pigmentation" EXACT []
synonym: "Retinal pigmented bone spicules" EXACT []
xref: UMLS:C1836926
is_a: HP:0000580 ! Pigmentary retinopathy

[Term]
id: HP:0007738
name: Uncontrolled eye movements
xref: UMLS:C1854686
is_a: HP:0012547 ! Abnormal involuntary eye movements

[Term]
id: HP:0007739
name: obsolete Mildly reduced visual acuity
is_obsolete: true
replaced_by: HP:0007663

[Term]
id: HP:0007740
name: Long eyelashes in irregular rows
synonym: "Long eyelashes in irregular rows" EXACT layperson []
xref: UMLS:C1850640
is_a: HP:0000527 ! Long eyelashes

[Term]
id: HP:0007744
name: obsolete Iridoretinal coloboma
is_obsolete: true
consider: HP:0000612

[Term]
id: HP:0007747
name: Monocular horizontal nystagmus
xref: UMLS:C4024807
is_a: HP:0000666 ! Horizontal nystagmus

[Term]
id: HP:0007748
name: obsolete Irido-fundal coloboma
is_obsolete: true
consider: HP:0000612

[Term]
id: HP:0007750
name: Hypoplasia of the fovea
def: "Underdevelopment of the fovea centralis." [https://orcid.org/0000-0002-0736-9199]
comment: A dull foveal reflex is an unusual reflex of the foveal region on fundoscopy that may indicate hypoplasia of the fovea.
synonym: "Foveal hypoplasia" EXACT []
xref: UMLS:C2673946
xref: UMLS:C4072863
is_a: HP:0008060 ! Aplasia/Hypoplasia of the fovea

[Term]
id: HP:0007754
name: Macular dystrophy
alt_id: HP:0007638
alt_id: HP:0007798
alt_id: HP:0007914
alt_id: HP:0007919
alt_id: HP:0007999
def: "Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
xref: UMLS:C0730292
is_a: HP:0000556 ! Retinal dystrophy
is_a: HP:0001103 ! Abnormal macular morphology

[Term]
id: HP:0007755
name: Juvenile epithelial corneal dystrophy
xref: SNOMEDCT_US:1674008
xref: UMLS:C0339277
is_a: HP:0200020 ! Corneal erosion

[Term]
id: HP:0007756
name: obsolete Slitlike anterior chamber angles in children
is_obsolete: true
replaced_by: HP:0000594

[Term]
id: HP:0007757
name: obsolete Hypoplasia of choroid
is_obsolete: true
replaced_by: HP:0000610

[Term]
id: HP:0007758
name: obsolete Congenital visual impairment
is_obsolete: true
replaced_by: HP:0000505

[Term]
id: HP:0007759
name: Opacification of the corneal stroma
alt_id: HP:0000515
alt_id: HP:0007662
alt_id: HP:0007896
alt_id: HP:0007966
def: "Reduced transparency of the stroma of cornea." [https://orcid.org/0000-0001-8727-6592]
synonym: "Cloudy cornea" EXACT []
synonym: "Cloudy corneas" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Corneal stromal opacity" EXACT []
xref: SNOMEDCT_US:246957002
xref: UMLS:C0423250
xref: UMLS:C1856661
is_a: HP:0007957 ! Corneal opacity
is_a: HP:0011492 ! Abnormal corneal stroma morphology

[Term]
id: HP:0007760
name: Crystalline corneal dystrophy
xref: SNOMEDCT_US:39662004
xref: SNOMEDCT_US:419395007
xref: UMLS:C0271287
is_a: HP:0007856 ! Punctate opacification of the cornea

[Term]
id: HP:0007761
name: Pericentral scotoma
def: "A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:404650002
xref: UMLS:C1321308
is_a: HP:0000575 ! Scotoma

[Term]
id: HP:0007763
name: Retinal telangiectasia
def: "Dilatation of small blood vessels of the retina." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
xref: SNOMEDCT_US:84884003
xref: UMLS:C0154835
is_a: HP:0001009 ! Telangiectasia
is_a: HP:0008046 ! Abnormal retinal vascular morphology

[Term]
id: HP:0007765
name: Deep anterior chamber
def: "Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased." [https://orcid.org/0000-0002-0736-9199]
comment: Deep anterior chamber can be seen in disorders such as congenital microphakia and buphthalmos.
xref: SNOMEDCT_US:246991003
xref: UMLS:C0423280
is_a: HP:0000593 ! Abnormal anterior chamber morphology

[Term]
id: HP:0007766
name: Optic disc hypoplasia
alt_id: HP:0007794
alt_id: HP:0007890
def: "Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic optic discs" EXACT uk_spelling []
xref: SNOMEDCT_US:373650004
xref: UMLS:C1298695
is_a: HP:0008058 ! Aplasia/Hypoplasia of the optic nerve

[Term]
id: HP:0007768
name: Central retinal vessel vascular tortuosity
alt_id: HP:0008015
def: "The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Tortuosity of main retinal vessels" EXACT []
xref: UMLS:C4021569
is_a: HP:0000631 ! Retinal arterial tortuosity

[Term]
id: HP:0007769
name: Peripheral retinal degeneration
alt_id: HP:0007782
alt_id: HP:0007805
xref: SNOMEDCT_US:405721006
xref: SNOMEDCT_US:61536007
xref: UMLS:C1320640
is_a: HP:0000546 ! Retinal degeneration

[Term]
id: HP:0007770
name: Hypoplasia of the retina
synonym: "Retinal hypoplasia" EXACT []
synonym: "Underdeveloped retina" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1854685
is_a: HP:0008061 ! Aplasia/Hypoplasia of the retina

[Term]
id: HP:0007772
name: Impaired smooth pursuit
alt_id: HP:0008029
def: "An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormal visual pursuit" RELATED []
synonym: "Abnormality of visual tracking" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Impairment of visual pursuit" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1837458
xref: UMLS:C1848530
is_a: HP:0000617 ! Abnormality of ocular smooth pursuit

[Term]
id: HP:0007773
name: Vitreoretinopathy
alt_id: HP:0000655
def: "Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123, PMID:18179896]
synonym: "Vitreoretinal abnormality" EXACT []
synonym: "Vitreoretinal degeneration" EXACT []
xref: UMLS:C1850109
is_a: HP:0004327 ! Abnormal vitreous humor morphology

[Term]
id: HP:0007774
name: Hypoplasia of the ciliary body
def: "Underdevelopment of the ciliary body." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1836890
is_a: HP:0008055 ! Aplasia/Hypoplasia affecting the uvea
is_a: HP:0012776 ! Abnormal ciliary body morphology

[Term]
id: HP:0007776
name: Sparse lower eyelashes
alt_id: HP:0007785
synonym: "Hypotrichosis of lower eyelashes" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Partial absence of lower eyelashes" EXACT []
synonym: "Scanty lower eyelashes" EXACT layperson []
synonym: "Sparse lower eyelashes" EXACT layperson []
synonym: "Thin lower eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1835148
is_a: HP:0000653 ! Sparse eyelashes
is_a: HP:0040052 ! Abnormality of lower eyelashes

[Term]
id: HP:0007777
name: Chorioretinal scar
def: "Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye." []
xref: SNOMEDCT_US:53854005
xref: UMLS:C0008512
is_a: HP:0100699 ! Scarring
is_a: HP:0200065 ! Chorioretinal degeneration

[Term]
id: HP:0007778
name: Posterior retinal neovascularization
def: "A type of retinal neovascularization that affects the posterior pole of the retina." [https://orcid.org/0000-0002-0736-9199]
synonym: "Neovascularization of peripheral and posterior retina" EXACT []
synonym: "Posterior retinal neovascularisation" EXACT []
xref: UMLS:C4024803
is_a: HP:0030666 ! Retinal neovascularization

[Term]
id: HP:0007779
name: Anterior segment of eye aplasia
xref: UMLS:C1853234
is_a: HP:0008062 ! Aplasia/Hypoplasia affecting the anterior segment of the eye

[Term]
id: HP:0007780
name: Cortical pulverulent cataract
def: "A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cataracts, cortical pulverulent" EXACT []
xref: UMLS:C4021568
is_a: HP:0010693 ! Pulverulent cataract

[Term]
id: HP:0007782
name: obsolete Peripheral retinal cone degeneration
is_obsolete: true
replaced_by: HP:0007769

[Term]
id: HP:0007783
name: obsolete Butterfly retinal pigment epithelial dystrophy
is_obsolete: true
consider: HP:0000556

[Term]
id: HP:0007786
name: obsolete Lacunar retinal depigmentation
is_obsolete: true
replaced_by: HP:0007858

[Term]
id: HP:0007787
name: Posterior subcapsular cataract
alt_id: HP:0007666
alt_id: HP:0007857
def: "A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule." [https://orcid.org/0000-0002-0736-9199]
synonym: "Posterior subcapsular cataracts" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Posterior subcapsular opacities of the lens" EXACT []
xref: SNOMEDCT_US:315353005
xref: UMLS:C0858617
is_a: HP:0000523 ! Subcapsular cataract

[Term]
id: HP:0007791
name: Patchy atrophy of the retinal pigment epithelium
def: "Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas." []
xref: UMLS:C4024800
is_a: HP:0007722 ! Retinal pigment epithelial atrophy

[Term]
id: HP:0007792
name: Microsaccadic pursuit
xref: UMLS:C1843892
is_a: HP:0001152 ! Saccadic smooth pursuit

[Term]
id: HP:0007793
name: Granular macular appearance
def: "Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea." [https://orcid.org/0000-0002-0736-9199]
synonym: "Macular retinal pigment epithelial mottling" EXACT []
xref: UMLS:C4024799
is_a: HP:0007814 ! Retinal pigment epithelial mottling
is_a: HP:0008002 ! Abnormality of macular pigmentation

[Term]
id: HP:0007795
name: Anterior cortical cataract
def: "A cataract that affects the anterior part of the cortex of the lens." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1857308
is_a: HP:0100019 ! Cortical cataract

[Term]
id: HP:0007797
name: Retinal vascular malformation
xref: UMLS:C1861791
is_a: HP:0008046 ! Abnormal retinal vascular morphology

[Term]
id: HP:0007798
name: obsolete Foveal dystrophy
is_obsolete: true
consider: HP:0000493

[Term]
id: HP:0007799
name: Conjunctival whitish salt-like deposits
def: "The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1968901
is_a: HP:0000502 ! Abnormal conjunctiva morphology

[Term]
id: HP:0007800
name: Increased axial length of the globe
def: "Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean." [HPO_CONTRIBUTOR:DDD_ncarter]
synonym: "Globe elongated" EXACT []
synonym: "Increased axial globe length" EXACT []
synonym: "Increased front to back length of eyeball" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1835117
is_a: HP:0001090 ! Abnormally large globe

[Term]
id: HP:0007801
name: obsolete Fishnet retinal pigmentation
is_obsolete: true
consider: HP:0007703

[Term]
id: HP:0007802
name: Granular corneal dystrophy
def: "The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman's layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:45283008
xref: UMLS:C0018179
is_a: HP:0001131 ! Corneal dystrophy

[Term]
id: HP:0007803
name: Monochromacy
alt_id: HP:0007954
def: "Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray." [https://orcid.org/0000-0001-8727-6592]
comment: Rod monochromacy is the condition of having only rods in the retina. A rod monochromat is truly unable to see any color and can see only shades of gray.
synonym: "Complete achromatopsia" EXACT []
synonym: "Total colorblindness" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:56852002
xref: UMLS:C0152200
xref: UMLS:C1857618
is_a: HP:0000551 ! Color vision defect

[Term]
id: HP:0007807
name: Optic nerve compression
alt_id: HP:0008495
xref: SNOMEDCT_US:72983001
xref: UMLS:C0271344
is_a: HP:0000587 ! Abnormal optic nerve morphology
is_a: HP:0001293 ! Cranial nerve compression

[Term]
id: HP:0007808
name: obsolete Bilateral retinal coloboma
is_obsolete: true
replaced_by: HP:0000480

[Term]
id: HP:0007809
name: Punctate corneal dystrophy
xref: UMLS:C4024796
is_a: HP:0001131 ! Corneal dystrophy

[Term]
id: HP:0007810
name: obsolete Progressive bifocal chorioretinal atrophy
is_obsolete: true
consider: HP:0000533

[Term]
id: HP:0007811
name: Horizontal pendular nystagmus
alt_id: HP:0200069
def: "Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity." [https://orcid.org/0000-0002-0736-9199]
comment: Pendular nystagmus refers to the situation in which the eye appeared to oscillate with equal speed in either direction, in contrast to jerk nystagmus, in which the movement in one direction is faster than in the other.
xref: UMLS:C1866180
is_a: HP:0000666 ! Horizontal nystagmus
is_a: HP:0006934 ! Congenital nystagmus
is_a: HP:0012043 ! Pendular nystagmus

[Term]
id: HP:0007812
name: Herpetiform corneal ulceration
def: "The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining." [https://orcid.org/0000-0002-0736-9199]
synonym: "Dendritic corneal epithelial ulcer" EXACT []
synonym: "Herpetiform corneal ulcers" EXACT []
xref: UMLS:C4020911
is_a: HP:0012804 ! Corneal ulceration

[Term]
id: HP:0007813
name: Nongranulomatous uveitis
def: "A form of uveitis that is not associated with the formation of granulomas." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024795
is_a: HP:0000554 ! Uveitis

[Term]
id: HP:0007814
name: Retinal pigment epithelial mottling
alt_id: HP:0001124
def: "Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium." [https://orcid.org/0000-0002-0736-9199]
synonym: "Focal hypopigmentation of the retinal pigment epithelium" EXACT []
synonym: "Retinal pigment epithelium irregularity" EXACT []
synonym: "RPE irregularity" EXACT abbreviation []
synonym: "RPE mottling" EXACT abbreviation []
synonym: "Salt and pepper retinal pigmentation" EXACT []
synonym: "Salt and pepper retinopathy" EXACT []
xref: UMLS:C1857644
is_a: HP:0007703 ! Abnormality of retinal pigmentation

[Term]
id: HP:0007815
name: Abnormal distribution of retinal arterioles and venules
xref: UMLS:C3277463
is_a: HP:0008046 ! Abnormal retinal vascular morphology

[Term]
id: HP:0007817
name: Horizontal supranuclear gaze palsy
def: "A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024794
is_a: HP:0000605 ! Supranuclear gaze palsy

[Term]
id: HP:0007818
name: Central heterochromia
def: "The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Ring iris heterochromia" EXACT []
xref: UMLS:C4021567
is_a: HP:0001100 ! Heterochromia iridis

[Term]
id: HP:0007819
name: Presenile cataracts
alt_id: HP:0007848
def: "Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual." [https://orcid.org/0000-0002-0736-9199, PMID:17030721]
comment: Presenile cataract is rare. Some cases have a hereditary cause; others result from trauma or chromosomal, endocrine, metabolic, or systemic disorders. Many cases are idiopathic. The term 'presenile' is used differently in the literature. The HPO defines it to mean a cataract that is diagnosed after the age of 20 years but before old age.
synonym: "Presenile cataract" EXACT []
xref: SNOMEDCT_US:441622000
xref: UMLS:C0154971
is_a: HP:0000518 ! Cataract

[Term]
id: HP:0007820
name: Lacrimal punctal atresia
def: "Congenital absence or closure of the opening of the lacrimal punctum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Atretic lacrimal puncta" EXACT plural_form []
synonym: "Atretic lacrimal punctum" EXACT []
xref: UMLS:C1863201
is_a: HP:0011479 ! Abnormal lacrimal punctum morphology

[Term]
id: HP:0007822
name: Central retinal exudate
xref: UMLS:C4024793
is_a: HP:0001147 ! Retinal exudate

[Term]
id: HP:0007824
name: Total ophthalmoplegia
def: "Paralysis of both the extrinsic and intrinsic ocular muscles." [https://orcid.org/0000-0002-0736-9199]
synonym: "Complete ophthalmoplegia" EXACT []
synonym: "Global paralysis of gaze" EXACT []
synonym: "Total internal and external ophthalmoplegia" EXACT []
xref: SNOMEDCT_US:78097002
xref: UMLS:C0155338
is_a: HP:0000602 ! Ophthalmoplegia

[Term]
id: HP:0007825
name: obsolete Cataracts develop in second or third decade
is_obsolete: true
replaced_by: HP:0000518

[Term]
id: HP:0007827
name: Nodular corneal dystrophy
xref: UMLS:C4024792
is_a: HP:0011494 ! Generalized opacification of the cornea

[Term]
id: HP:0007829
name: obsolete Diffuse retinal cone degeneration
is_obsolete: true
consider: HP:0000546

[Term]
id: HP:0007830
name: Adult-onset night blindness
def: "Inability to see well at night or in poor light with onset in adulthood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Adult-onset night blindness" EXACT layperson []
xref: UMLS:C4024790
is_a: HP:0000662 ! Nyctalopia

[Term]
id: HP:0007831
name: Nonprogressive restrictive external ophthalmoplegia
alt_id: HP:0007682
def: "Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024789
is_a: HP:0000544 ! External ophthalmoplegia

[Term]
id: HP:0007832
name: Pigmentation of the sclera
synonym: "Pigmentation of the outer white part of the eyeball" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1859882
is_a: HP:0000591 ! Abnormal sclera morphology

[Term]
id: HP:0007833
name: Anterior chamber synechiae
xref: UMLS:C4024788
is_a: HP:0000593 ! Abnormal anterior chamber morphology

[Term]
id: HP:0007834
name: Progressive cataract
alt_id: HP:0007828
def: "A kind of cataract that progresses with age." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cataract, progressive" EXACT []
xref: UMLS:C4021566
is_a: HP:0000518 ! Cataract

[Term]
id: HP:0007835
name: S-shaped palpebral fissures
synonym: "S-shaped eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "S-shaped opening between the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4024787
is_a: HP:0200005 ! Abnormal shape of the palpebral fissure

[Term]
id: HP:0007836
name: Mosaic corneal dystrophy
xref: UMLS:C4024786
is_a: HP:0001131 ! Corneal dystrophy

[Term]
id: HP:0007838
name: Progressive ptosis
def: "A progressive form of ptosis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Progressive drooping of upper eyelid" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1834015
is_a: HP:0000508 ! Ptosis

[Term]
id: HP:0007840
name: Long upper eyelashes
def: "Increased length of the upper eyelashes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Ciliary trichomegaly of upper eyelashes" EXACT []
synonym: "Increased length of upper eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Long upper eyelashes" EXACT layperson []
xref: UMLS:C4024785
is_a: HP:0000527 ! Long eyelashes
is_a: HP:0040051 ! Abnormality of upper eyelashes

[Term]
id: HP:0007841
name: Amyloid deposition in the vitreous humor
def: "Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity." [https://orcid.org/0000-0002-0736-9199]
synonym: "Amyloid deposition in the vitreous humour" EXACT uk_spelling []
synonym: "Vitreous amyloid deposits" EXACT []
xref: UMLS:C4024784
is_a: HP:0004327 ! Abnormal vitreous humor morphology

[Term]
id: HP:0007843
name: Attenuation of retinal blood vessels
synonym: "Narrowing of blood vessels in back of eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C3278975
is_a: HP:0008046 ! Abnormal retinal vascular morphology

[Term]
id: HP:0007850
name: Retinal vascular proliferation
xref: SNOMEDCT_US:61267008
xref: UMLS:C0035320
is_a: HP:0008046 ! Abnormal retinal vascular morphology

[Term]
id: HP:0007851
name: obsolete Temporal displacement of maculae
is_obsolete: true
consider: HP:0001103

[Term]
id: HP:0007852
name: obsolete Pericentral pigmentary retinopathy
is_obsolete: true
replaced_by: HP:0000580

[Term]
id: HP:0007854
name: Glaucomatous visual field defect
xref: SNOMEDCT_US:370961005
xref: UMLS:C1299694
is_a: HP:0001123 ! Visual field defect

[Term]
id: HP:0007856
name: Punctate opacification of the cornea
alt_id: HP:0008004
def: "Punctate opacification (reduced transparency) of the corneal stroma." [https://orcid.org/0000-0001-8727-6592]
synonym: "Punctate corneal opacities" EXACT []
xref: UMLS:C4021565
is_a: HP:0007759 ! Opacification of the corneal stroma

[Term]
id: HP:0007858
name: Chorioretinal lacunae
alt_id: HP:0007786
def: "Punched out lesions in the pigmented layer of the retina." [https://orcid.org/0000-0002-0736-9199]
comment: A chorioretinal lacuna can have the appearance of a pseudodisk in the retina.
subset: hposlim_core
synonym: "Lacunar retinal depigmentation" RELATED []
xref: UMLS:C1844751
xref: UMLS:C4072866
is_a: HP:0000532 ! Abnormal chorioretinal morphology

[Term]
id: HP:0007859
name: Congenital horizontal nystagmus
def: "Horizontal nystagmus dating from or present at birth." [https://orcid.org/0000-0002-0736-9199]
synonym: "Nystagmus, congenital horizontal" EXACT []
xref: UMLS:C1866180
is_a: HP:0000666 ! Horizontal nystagmus
is_a: HP:0006934 ! Congenital nystagmus

[Term]
id: HP:0007862
name: Retinal calcification
def: "Deposition of calcium salts in the retina." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1867289
is_a: HP:0010766 ! Ectopic calcification
is_a: HP:0030506 ! Yellow/white lesions of the retina

[Term]
id: HP:0007866
name: Retinal infarction
xref: UMLS:C0281967
is_a: HP:0000479 ! Abnormal retinal morphology

[Term]
id: HP:0007867
name: Restrictive partial external ophthalmoplegia
def: "Fibrosis of only some of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024781
is_a: HP:0007936 ! Restrictive external ophthalmoplegia

[Term]
id: HP:0007868
name: obsolete Age-related macular degeneration
is_obsolete: true
consider: HP:0000608

[Term]
id: HP:0007869
name: obsolete Peripheral retinopathy
is_obsolete: true

[Term]
id: HP:0007872
name: Choroidal hemangioma
def: "The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas." [https://orcid.org/0000-0002-0736-9199]
comment: Choroidal hemangiomas can cause hyperopia or other visual symptoms such as blurred or distorted vision. Some choroidal hemangiomas are asymptomatic.
xref: NCIT:C3086
xref: SNOMEDCT_US:255022003
xref: UMLS:C0346390
is_a: HP:0001028 ! Hemangioma
is_a: HP:0025568 ! Abnormal morphology of the choroidal vasculature

[Term]
id: HP:0007873
name: Abnormally prominent line of Schwalbe
alt_id: HP:0007940
synonym: "Prominent Schwalbe lines" EXACT []
xref: UMLS:C1862376
is_a: HP:0008048 ! Abnormal line of Schwalbe morphology

[Term]
id: HP:0007874
name: Almond-shaped palpebral fissure
def: "A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point." [PMID:19125427]
comment: The almond configuration tends to dissipate with time, as the surrounding tissues (e.g., eyelid, nasal bridge) grow.
subset: hposlim_core
synonym: "Almond shaped eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Almond-shaped opening between the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4024780
is_a: HP:0200005 ! Abnormal shape of the palpebral fissure

[Term]
id: HP:0007875
name: Congenital blindness
alt_id: HP:0007706
def: "Blindness with onset at birth." [https://orcid.org/0000-0002-0736-9199]
synonym: "Blindness present at birth" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Congenital amaurosis" EXACT []
xref: SNOMEDCT_US:95486002
xref: UMLS:C0005754
is_a: HP:0000618 ! Blindness

[Term]
id: HP:0007876
name: obsolete Juvenile cortical cataract
is_obsolete: true
replaced_by: HP:0100019

[Term]
id: HP:0007879
name: Allergic conjunctivitis
def: "Allergic Conjunctivitis is an allergic inflammation of the conjunctiva." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:231854006
xref: SNOMEDCT_US:473460002
xref: UMLS:C0009766
is_a: HP:0000509 ! Conjunctivitis
is_a: HP:0012393 ! Allergy

[Term]
id: HP:0007880
name: Marginal corneal dystrophy
xref: UMLS:C4024779
is_a: HP:0001131 ! Corneal dystrophy

[Term]
id: HP:0007881
name: Central corneal dystrophy
xref: UMLS:C4024778
is_a: HP:0011493 ! Central opacification of the cornea

[Term]
id: HP:0007885
name: Slowed horizontal saccades
def: "An abnormally slow velocity of horizontal saccadic eye movements." [https://orcid.org/0000-0002-0736-9199]
comment: Saccades are rapid eye movements that align the fovea with the target.
xref: UMLS:C1856477
is_a: HP:0000514 ! Slow saccadic eye movements

[Term]
id: HP:0007886
name: Absent extraocular muscles
def: "Congenital absence of the extraocular muscles." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent ocular muscles" RELATED []
synonym: "Missing eye muscles" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1408781
xref: UMLS:C4024777
is_a: HP:0008049 ! Abnormality of the extraocular muscles

[Term]
id: HP:0007889
name: Iridescent posterior subcapsular cataract
def: "A type of posterior subcapsular cataract characterized by an iridescent color." [https://orcid.org/0000-0002-0736-9199, PMID:7826272]
synonym: "Cataracts, posterior, subcapsular, iridescent" EXACT []
xref: UMLS:C1864573
is_a: HP:0007787 ! Posterior subcapsular cataract

[Term]
id: HP:0007892
name: Hypoplasia of the lacrimal punctum
def: "Underdevelopment of the lacrimal puncta." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplasia of the lacrimal puncta" EXACT plural_form []
synonym: "Hypoplastic lacrimal puncta" EXACT plural_form []
xref: UMLS:C4021564
is_a: HP:0011479 ! Abnormal lacrimal punctum morphology

[Term]
id: HP:0007893
name: obsolete Progressive retinal degeneration
is_obsolete: true

[Term]
id: HP:0007894
name: Hypopigmentation of the fundus
alt_id: HP:0001111
alt_id: HP:0001487
alt_id: HP:0007746
alt_id: HP:0007752
def: "Reduced pigmentation of the fundus, typically generalized. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid)." [https://orcid.org/0000-0003-0986-4123]
synonym: "Decreased fundus pigmentation" EXACT []
synonym: "Fundus hypopigmentation" EXACT []
xref: SNOMEDCT_US:95694000
xref: UMLS:C0151891
is_a: HP:0031605 ! Abnormality of fundus pigmentation

[Term]
id: HP:0007898
name: Exudative retinopathy
xref: SNOMEDCT_US:25506007
xref: SNOMEDCT_US:360455002
xref: UMLS:C0154832
is_a: HP:0001147 ! Retinal exudate

[Term]
id: HP:0007899
name: Retinal nonattachment
alt_id: HP:0007849
def: "Failure of attachment of the retina during development." [https://orcid.org/0000-0002-0736-9199, PMID:21441919]
synonym: "Congenital retinal non-attachment" EXACT []
xref: UMLS:C4021563
is_a: HP:0000541 ! Retinal detachment

[Term]
id: HP:0007900
name: Hypoplastic lacrimal duct
synonym: "Underdeveloped tear duct" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1968574
is_a: HP:0011481 ! Abnormal lacrimal duct morphology

[Term]
id: HP:0007901
name: obsolete Retinal malformation
is_obsolete: true
replaced_by: HP:0000479

[Term]
id: HP:0007902
name: Vitreous hemorrhage
def: "Bleeding within the vitreous compartment of the eye." [https://orcid.org/0000-0003-2945-4463, PMID:16882398]
comment: The most common causes include proliferative diabetic retinopathy, vitreous detachment with or without retinal breaks, and trauma. Less common causes include vascular occlusive disease, retinal arterial macroaneurysm, hemoglobinopathies, age-related macular degeneration, intraocular tumors, and others.
subset: hposlim_core
synonym: "Vitreous haemorrhage" EXACT uk_spelling []
xref: SNOMEDCT_US:31341008
xref: UMLS:C0042909
is_a: HP:0004327 ! Abnormal vitreous humor morphology
is_a: HP:0011885 ! Hemorrhage of the eye

[Term]
id: HP:0007903
name: Paravenous chorioretinal atrophy
def: "Chorioretinal atrophy along the retinal veins." [https://orcid.org/0000-0002-0736-9199, PMID:15623792]
xref: UMLS:C4072868
is_a: HP:0000533 ! Chorioretinal atrophy

[Term]
id: HP:0007905
name: Abnormal iris vasculature
synonym: "Abnormality of iris blood vessels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C3275963
is_a: HP:0000525 ! Abnormality iris morphology
is_a: HP:0008047 ! Abnormality of the vasculature of the eye

[Term]
id: HP:0007906
name: Ocular hypertension
def: "Intraocular pressure that is 2 standard deviations above the population mean." []
synonym: "Elevated intraocular pressure" EXACT []
synonym: "Elevated IOP" EXACT abbreviation []
synonym: "High eye pressure" EXACT layperson []
synonym: "Increased intraocular pressure" EXACT []
synonym: "Increased IOP" EXACT abbreviation []
synonym: "Raised intraocular pressure" EXACT []
synonym: "Raised IOP" EXACT abbreviation []
xref: SNOMEDCT_US:112222000
xref: UMLS:C0234708
is_a: HP:0012633 ! Asymmetry of intraocular pressure

[Term]
id: HP:0007910
name: obsolete Nonprogressive congenital retinal dystrophy
is_obsolete: true
consider: HP:0000556

[Term]
id: HP:0007911
name: Congenital bilateral ptosis
alt_id: HP:0007719
alt_id: HP:0007955
synonym: "Congenital drooping of both upper eyelids" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Ptosis, bilateral congenital" EXACT []
synonym: "Ptosis, congenital bilateral" EXACT []
xref: UMLS:C1836264
is_a: HP:0001488 ! Bilateral ptosis
is_a: HP:0007970 ! Congenital ptosis

[Term]
id: HP:0007913
name: Reticular retinal dystrophy
def: "A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation." []
xref: UMLS:C4024776
is_a: HP:0007963 ! Pattern dystrophy of the retina

[Term]
id: HP:0007915
name: Polymorphous posterior corneal dystrophy
def: "This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:29504002
xref: UMLS:C0339284
is_a: HP:0011489 ! Abnormal migration of corneal endothelium
is_a: HP:0011491 ! Reduced number of corneal endothelial cells

[Term]
id: HP:0007916
name: obsolete Small anterior lens surface opacities
is_obsolete: true
consider: HP:0007795

[Term]
id: HP:0007917
name: Tractional retinal detachment
def: "A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes." [https://orcid.org/0000-0002-0736-9199, ISBN-13:978-0199679980]
xref: UMLS:C1866178
is_a: HP:0000541 ! Retinal detachment

[Term]
id: HP:0007920
name: obsolete Congenital chorioretinal dystrophy
is_obsolete: true
replaced_by: HP:0001135

[Term]
id: HP:0007922
name: Hypermyelinated retinal nerve fibers
alt_id: HP:0007654
synonym: "Hypermyelinated retinal nerve fibres" EXACT uk_spelling []
synonym: "Retinal striation" EXACT []
xref: UMLS:C1849151
is_a: HP:0012447 ! Abnormal myelination
is_a: HP:0020119 ! Abnormal retinal nerve fiber layer morphology

[Term]
id: HP:0007923
name: obsolete Foveal hyperplasia
is_obsolete: true
consider: HP:0000493

[Term]
id: HP:0007924
name: Slow decrease in visual acuity
alt_id: HP:0007652
synonym: "Decreased visual acuity, slowly progressive" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Slow decrease in sharpness of vision" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Subacute deterioration of visual acuity" EXACT []
xref: UMLS:C1853141
xref: UMLS:C3278981
is_a: HP:0000529 ! Progressive visual loss

[Term]
id: HP:0007925
name: Lacrimal duct aplasia
def: "A congenital defect resulting in absence of the lacrimal duct." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent tear duct" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024773
is_a: HP:0011481 ! Abnormal lacrimal duct morphology

[Term]
id: HP:0007928
name: Abnormal flash visual evoked potentials
def: "Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024772
is_a: HP:0000649 ! Abnormality of visual evoked potentials

[Term]
id: HP:0007929
name: Peripheral retinal detachment
def: "Separation of the inner layers of the retina (neural retina) from the pigment epithelium occurring near the outer limit (periphery) of the retina." []
xref: UMLS:C4024771
is_a: HP:0000541 ! Retinal detachment

[Term]
id: HP:0007930
name: obsolete Prominent epicanthal folds
is_obsolete: true
replaced_by: HP:0000286

[Term]
id: HP:0007932
name: Bilateral congenital mydriasis
def: "Congenital abnormal dilation of the pupil on both sides." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024770
is_a: HP:0011499 ! Mydriasis

[Term]
id: HP:0007933
name: Broad lateral eyebrow
def: "Regional increase in the width (height) of the lateral eyebrow." [https://orcid.org/0000-0002-0736-9199]
synonym: "Lateral eyebrow flare" EXACT []
synonym: "Wide lateral eyebrow" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1837733
is_a: HP:0011229 ! Broad eyebrow

[Term]
id: HP:0007935
name: Juvenile posterior subcapsular lenticular opacities
xref: UMLS:C1863408
is_a: HP:0007787 ! Posterior subcapsular cataract

[Term]
id: HP:0007936
name: Restrictive external ophthalmoplegia
alt_id: HP:0007846
alt_id: HP:0007959
alt_id: HP:0008025
def: "Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited." [https://orcid.org/0000-0002-0736-9199]
synonym: "Restrictive external ophthalmoplegia, bilateral" RELATED []
synonym: "Restrictive ophthalmoplegia" EXACT []
xref: UMLS:C1865918
xref: UMLS:C4020806
is_a: HP:0000544 ! External ophthalmoplegia

[Term]
id: HP:0007937
name: Reticular pigmentary degeneration
def: "A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus." [HPO_CONTRIBUTOR:fprobst, PMID:28114409]
synonym: "Fishnet retinal pigmentation" EXACT []
synonym: "Honeycomb retinal degeneration" EXACT []
xref: UMLS:C4024769
is_a: HP:0007769 ! Peripheral retinal degeneration
is_a: HP:0011512 ! Hyperpigmentation of the fundus

[Term]
id: HP:0007939
name: Blue cone monochromacy
def: "A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors." [https://orcid.org/0000-0002-0736-9199]
synonym: "Blue cone monochromatism" EXACT []
synonym: "Incomplete achromatopsia" EXACT []
synonym: "S-cone monochromacy" EXACT []
xref: SNOMEDCT_US:24704003
xref: UMLS:C0339537
is_a: HP:0011517 ! Cone monochromacy

[Term]
id: HP:0007941
name: Limited extraocular movements
def: "Limited mobility of the eye within its socket." []
synonym: "Limited extraocular movement" EXACT []
xref: UMLS:C1858427
is_a: HP:0000496 ! Abnormality of eye movement

[Term]
id: HP:0007942
name: Internal ophthalmoplegia
def: "Paralysis of the iris and ciliary apparatus." [https://orcid.org/0000-0002-0736-9199]
comment: Paralysis of the internal ocular muscles, the iris and ciliary apparatus.
xref: SNOMEDCT_US:232146005
xref: UMLS:C0339693
is_a: HP:0000602 ! Ophthalmoplegia

[Term]
id: HP:0007943
name: Congenital stapes ankylosis
def: "A form of stapes ankylosis with congenital onset." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1866657
is_a: HP:0000381 ! Stapes ankylosis

[Term]
id: HP:0007944
name: Intermittent microsaccadic pursuits
xref: UMLS:C4024768
is_a: HP:0001152 ! Saccadic smooth pursuit

[Term]
id: HP:0007945
name: obsolete Choroidal degeneration
is_obsolete: true
consider: HP:0200065

[Term]
id: HP:0007946
name: Unilateral narrow palpebral fissure
def: "A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only." [https://orcid.org/0000-0002-0736-9199]
synonym: "Narrow palpebral fissure, unilateral" EXACT []
synonym: "Unequal size of opening between the eyelids" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1866805
xref: UMLS:C4280419
is_a: HP:0000581 ! Blepharophimosis

[Term]
id: HP:0007947
name: Pericentral retinitis pigmentosa
def: "A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery." [https://orcid.org/0000-0003-0986-4123, PMID:28981474]
xref: UMLS:C1849398
is_a: HP:0000510 ! Rod-cone dystrophy

[Term]
id: HP:0007948
name: Dense posterior cortical cataract
def: "A type of posterior cortical cataract characterized by dense lenticular opacities." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024767
is_a: HP:0010924 ! Posterior cortical cataract

[Term]
id: HP:0007949
name: obsolete Progressive macular scarring
is_obsolete: true

[Term]
id: HP:0007950
name: Peripapillary chorioretinal atrophy
def: "Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head)." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024765
is_a: HP:0000533 ! Chorioretinal atrophy

[Term]
id: HP:0007956
name: obsolete Bilateral choroid coloboma
is_obsolete: true
replaced_by: HP:0000567

[Term]
id: HP:0007957
name: Corneal opacity
alt_id: HP:0007844
alt_id: HP:0007883
alt_id: HP:0008502
def: "A reduction of corneal clarity." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Corneal clouding" EXACT []
synonym: "Corneal opacities" EXACT []
synonym: "Reduction of corneal clarity" EXACT []
synonym: "Scarring or clouding of the cornea of the eye" EXACT []
xref: SNOMEDCT_US:413921009
xref: SNOMEDCT_US:64634000
xref: SNOMEDCT_US:95735008
xref: UMLS:C0010038
xref: UMLS:C0521719
is_a: HP:0000481 ! Abnormal cornea morphology

[Term]
id: HP:0007958
name: Optic atrophy from cranial nerve compression
xref: UMLS:C4024763
is_a: HP:0000648 ! Optic atrophy
is_a: HP:0001293 ! Cranial nerve compression

[Term]
id: HP:0007961
name: obsolete Rarefaction of retinal pigmentation
is_obsolete: true
consider: HP:0000580

[Term]
id: HP:0007962
name: Speckled corneal dystrophy
xref: UMLS:C4021857
is_a: HP:0001131 ! Corneal dystrophy

[Term]
id: HP:0007963
name: Pattern dystrophy of the retina
def: "A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation)." [https://orcid.org/0000-0003-0986-4123]
xref: UMLS:C4024762
is_a: HP:0000556 ! Retinal dystrophy

[Term]
id: HP:0007964
name: Degenerative vitreoretinopathy
xref: UMLS:C1843486
is_a: HP:0007773 ! Vitreoretinopathy

[Term]
id: HP:0007965
name: Undetectable visual evoked potentials
synonym: "Absence of visual evoked potentials" EXACT []
synonym: "Non-detectable VEP" EXACT []
synonym: "Undetectable VEP" EXACT []
xref: UMLS:C1850069
is_a: HP:0000649 ! Abnormality of visual evoked potentials

[Term]
id: HP:0007968
name: Remnants of the hyaloid vascular system
def: "Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Congenital retinal septum" EXACT []
synonym: "Persistent fetal vasculature" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Persistent foetal vasculature" EXACT uk_spelling []
synonym: "Persistent hyperplasia of primary vitreous" EXACT []
synonym: "Persistent hyperplastic primary vitreous" EXACT []
synonym: "Persistent hypertrophic primary vitreous" EXACT []
synonym: "Persistent posterior fetal fibrovascular sheath of the lens" EXACT []
synonym: "Persistent posterior foetal fibrovascular sheath of the lens" EXACT uk_spelling []
synonym: "Persistent tunica vasculosa lentis" EXACT []
xref: SNOMEDCT_US:314270008
xref: SNOMEDCT_US:44647001
xref: SNOMEDCT_US:69927002
xref: UMLS:C0266568
is_a: HP:0004327 ! Abnormal vitreous humor morphology

[Term]
id: HP:0007970
name: Congenital ptosis
synonym: "Congenital drooping upper eyelid" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:268163008
xref: SNOMEDCT_US:61989004
xref: UMLS:C0266573
is_a: HP:0000508 ! Ptosis

[Term]
id: HP:0007971
name: Lamellar cataract
def: "A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:204128001
xref: SNOMEDCT_US:21590003
xref: UMLS:C0266537
is_a: HP:0010920 ! Zonular cataract

[Term]
id: HP:0007973
name: Retinal dysplasia
alt_id: HP:0007901
alt_id: HP:0008022
def: "The presence of developmental dysplasia of the retina." [https://orcid.org/0000-0002-0736-9199]
comment: This feature is a congenital developmental anomaly of the retina characterized by abnormal growth and differentiation. The retina contains numerous tubular structures and rosettes. Retinal dysplasia (synonym: retinal dysgenesis) is often accompanied by retinal detachment and micropthalmos, but the latter features should be coded separately.
subset: hposlim_core
synonym: "Retinal dysgenesis" EXACT []
xref: SNOMEDCT_US:95494009
xref: UMLS:C0035313
is_a: HP:0000479 ! Abnormal retinal morphology

[Term]
id: HP:0007975
name: Hypometric horizontal saccades
def: "Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object." [https://orcid.org/0000-0002-0736-9199, PMID:572501]
xref: UMLS:C1856478
is_a: HP:0000571 ! Hypometric saccades

[Term]
id: HP:0007976
name: Cerulean cataract
def: "Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary." [https://orcid.org/0000-0002-0736-9199, PMID:19496508, PMID:9158139]
synonym: "Cataracts, congenital, cerulean" EXACT []
xref: SNOMEDCT_US:204138006
xref: UMLS:C0344523
is_a: HP:0007648 ! Punctate cataract

[Term]
id: HP:0007979
name: Gaze-evoked horizontal nystagmus
alt_id: HP:0007639
def: "Horizontal nystagmus made apparent by looking to the right or to the left." [https://orcid.org/0000-0002-0736-9199]
synonym: "Nystagmus, horizontal gaze-evoked" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Nystagmus, horizontal, gaze-evoked" EXACT []
xref: UMLS:C1853394
is_a: HP:0000640 ! Gaze-evoked nystagmus
is_a: HP:0000666 ! Horizontal nystagmus

[Term]
id: HP:0007980
name: Absent retinal pigment epithelium
xref: UMLS:C1852548
is_a: HP:0007894 ! Hypopigmentation of the fundus

[Term]
id: HP:0007981
name: obsolete Concentric narrowing of visual field
is_obsolete: true
replaced_by: HP:0001133

[Term]
id: HP:0007982
name: obsolete Central tapetoretinal dystrophy
is_obsolete: true
consider: HP:0000556

[Term]
id: HP:0007984
name: Electronegative electroretinogram
def: "A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source: Holder GE., Inherited Chorioretinal Dystrophies: A Textbook and Atlas; 2014; p.17; ISBN 978-3-540-69466-3)." [https://orcid.org/0000-0002-0736-9199]
comment: Flashes will elicit an a-wave with an initial negative deflection followed by a b-wave with positive deflection. This feature refers to a reduction in the amplitude primarily of the b-wave.
synonym: "Electronegative ERG" EXACT abbreviation []
synonym: "Electroretinogram: reduced b-wave amplitude" EXACT []
synonym: "Reduced amplitude of dark-adapted bright flash electroretinogram b-wave" EXACT []
synonym: "Reduced electroretinogram rod b-wave" EXACT []
synonym: "Reduced ERG amplitude of b-wave" EXACT []
xref: UMLS:C4021561
is_a: HP:0030478 ! Abnormal amplitude of dark-adapted bright flash electroretinogram

[Term]
id: HP:0007985
name: Retinal arteriolar occlusion
def: "Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina." [https://orcid.org/0000-0002-0736-9199]
synonym: "Blocked retinal artery" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4024761
is_a: HP:0000630 ! Abnormal retinal artery morphology
is_a: HP:0100545 ! Arterial stenosis

[Term]
id: HP:0007986
name: Increased retinal vascularity
xref: UMLS:C1847882
is_a: HP:0008046 ! Abnormal retinal vascular morphology

[Term]
id: HP:0007987
name: Progressive visual field defects
xref: UMLS:C4024760
is_a: HP:0001123 ! Visual field defect

[Term]
id: HP:0007988
name: Macular hypopigmentation
def: "Decreased amount of pigmentation in the macula lutea." [HPO_CONTRIBUTOR:DDD_ncarter]
xref: UMLS:C4024759
is_a: HP:0008002 ! Abnormality of macular pigmentation

[Term]
id: HP:0007989
name: Intraretinal exudate
def: "Retinal exudate within the retinal tissue itself." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024758
is_a: HP:0001147 ! Retinal exudate

[Term]
id: HP:0007990
name: Hypoplastic iris stroma
alt_id: HP:0007991
alt_id: HP:0008027
def: "Underdevelopment of the stroma of iris." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic iris stoma" EXACT []
synonym: "Iris stromal hypoplasia" EXACT []
synonym: "Underdeveloped iris stroma" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1860344
is_a: HP:0007676 ! Hypoplasia of the iris

[Term]
id: HP:0007992
name: Lattice retinal degeneration
xref: SNOMEDCT_US:3577000
xref: UMLS:C0154856
is_a: HP:0007769 ! Peripheral retinal degeneration

[Term]
id: HP:0007993
name: Malformed lacrimal duct
def: "Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies." [https://orcid.org/0000-0002-0736-9199]
synonym: "Malformed tear ducts" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024757
is_a: HP:0011481 ! Abnormal lacrimal duct morphology

[Term]
id: HP:0007994
name: Peripheral visual field loss
def: "Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision." [https://orcid.org/0000-0002-0736-9199]
synonym: "Kalnienk vision" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Loss of peripheral vision" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Tunnel vision" RELATED layperson []
xref: SNOMEDCT_US:420990001
xref: UMLS:C0241688
xref: UMLS:C2937228
is_a: HP:0001133 ! Constriction of peripheral visual field

[Term]
id: HP:0008000
name: Decreased corneal reflex
def: "An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased blink reflex" EXACT []
synonym: "Reduced corneal reflex" EXACT []
xref: SNOMEDCT_US:103254005
xref: UMLS:C0151572
is_a: HP:0034251 ! Abnormal corneal reflex

[Term]
id: HP:0008001
name: Foveal hyperpigmentation
def: "Increased amount of pigmentation in the fovea centralis." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C3809301
is_a: HP:0030493 ! Abnormality of foveal pigmentation

[Term]
id: HP:0008002
name: Abnormality of macular pigmentation
def: "Abnormality of macular or foveal pigmentation." [HPO_CONTRIBUTOR:DDD_ncarter]
subset: hposlim_core
synonym: "Macular pigmentary changes" RELATED []
xref: UMLS:C1837087
xref: UMLS:C4024756
is_a: HP:0001103 ! Abnormal macular morphology

[Term]
id: HP:0008003
name: Jerky ocular pursuit movements
alt_id: HP:0007897
synonym: "Jerky smooth pursuit" EXACT []
xref: UMLS:C1853558
is_a: HP:0000617 ! Abnormality of ocular smooth pursuit

[Term]
id: HP:0008005
name: obsolete Congenital corneal dystrophy
is_obsolete: true
replaced_by: HP:0001131

[Term]
id: HP:0008007
name: Primary congenital glaucoma
xref: SNOMEDCT_US:415176004
xref: UMLS:C1533041
is_a: HP:0001087 ! Developmental glaucoma

[Term]
id: HP:0008008
name: obsolete Progressive central visual loss
is_obsolete: true

[Term]
id: HP:0008009
name: Three rows of eyelashes
synonym: "Three rows of eyelashes" EXACT layperson []
synonym: "Triple row of eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1860785
is_a: HP:0008496 ! Multiple rows of eyelashes

[Term]
id: HP:0008011
name: Peripheral opacification of the cornea
def: "Reduced transparency of the peripheral region of the cornea." [https://orcid.org/0000-0002-0736-9199]
synonym: "Peripheral corneal opacity" EXACT []
xref: SNOMEDCT_US:55713007
xref: UMLS:C0155100
is_a: HP:0007759 ! Opacification of the corneal stroma

[Term]
id: HP:0008012
name: obsolete Congenital myopia
is_obsolete: true
consider: HP:0000545

[Term]
id: HP:0008014
name: Central fundal arteriolar microaneurysms
def: "Microscopic aneurysms of the retinal arterioles near the central part of the fundus, visible as small round dark red dots on the retinal surface (not arising from visible vessels) that are by definition less than the diameter of the major optic veins as they cross the optic disc." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024755
is_a: HP:0032416 ! Retinal microaneurysm

[Term]
id: HP:0008017
name: obsolete Depigmented lesions of the retinal pigment epithelium
is_obsolete: true
consider: HP:0007680

[Term]
id: HP:0008019
name: Superior lens subluxation
def: "Partial dislocation of the lens in a superior direction." [https://orcid.org/0000-0002-0736-9199, PMID:5087595]
synonym: "Superior subluxated lens" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C2036843
is_a: HP:0001132 ! Lens subluxation

[Term]
id: HP:0008020
name: Cone dystrophy
alt_id: HP:0007789
def: "Inherited progressive cone degeneration." []
synonym: "Progressive cone degeneration" EXACT []
synonym: "Progressive cone dystrophy" EXACT []
xref: UMLS:C0730290
xref: UMLS:C3665342
is_a: HP:0000548 ! Cone/cone-rod dystrophy

[Term]
id: HP:0008024
name: obsolete Congenital nuclear cataract
is_obsolete: true
replaced_by: HP:0100018

[Term]
id: HP:0008026
name: Horizontal opticokinetic nystagmus
xref: UMLS:C4024754
is_a: HP:0000666 ! Horizontal nystagmus

[Term]
id: HP:0008028
name: Cystoid macular degeneration
alt_id: HP:0007673
def: "A form of macular degeneration characterized by the presence of multiple cysts in the macula." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cystic macular degeneration" EXACT []
xref: SNOMEDCT_US:14046000
xref: UMLS:C0154850
is_a: HP:0000608 ! Macular degeneration

[Term]
id: HP:0008030
name: Retinal arteritis
xref: SNOMEDCT_US:11255009
xref: UMLS:C0271069
is_a: HP:0000630 ! Abnormal retinal artery morphology
is_a: HP:0012089 ! Arteritis
is_a: HP:0025188 ! Retinal vasculitis

[Term]
id: HP:0008031
name: Posterior Y-sutural cataract
def: "A type of sutural cataract in which the opacity follows the posterior Y suture." [https://orcid.org/0000-0002-0736-9199]
synonym: "Posterior Y-sutural cataracts" EXACT []
xref: UMLS:C4021560
is_a: HP:0010695 ! Sutural cataract

[Term]
id: HP:0008033
name: obsolete Congenital exotropia
is_obsolete: true
replaced_by: HP:0000577

[Term]
id: HP:0008034
name: Abnormal iris pigmentation
def: "Abnormal pigmentation of the iris." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
xref: UMLS:C1834387
is_a: HP:0000525 ! Abnormality iris morphology

[Term]
id: HP:0008035
name: Retinitis pigmentosa inversa
alt_id: HP:0008506
def: "Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery)." [https://orcid.org/0000-0003-0986-4123, PMID:9734800]
synonym: "Central retinitis pigmentosa" EXACT []
xref: UMLS:C4021559
is_a: HP:0000546 ! Retinal degeneration

[Term]
id: HP:0008036
name: obsolete Rod-cone dystrophy
is_obsolete: true

[Term]
id: HP:0008037
name: Absent anterior chamber of the eye
def: "Absence of the anterior chamber of the eye owing to a developmental defect." []
xref: SNOMEDCT_US:404675003
xref: SNOMEDCT_US:55457007
xref: UMLS:C0271004
is_a: HP:0000593 ! Abnormal anterior chamber morphology

[Term]
id: HP:0008038
name: Aplastic/hypoplastic lacrimal glands
def: "Absence or underdevelopment of the lacrimal gland." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/underdeveloped lacrimal glands" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped tear glands" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1835602
is_a: HP:0011482 ! Abnormal lacrimal gland morphology

[Term]
id: HP:0008039
name: Subepithelial corneal opacities
xref: UMLS:C1857307
is_a: HP:0007727 ! Opacification of the corneal epithelium

[Term]
id: HP:0008041
name: Late onset congenital glaucoma
xref: UMLS:C1856441
is_a: HP:0001087 ! Developmental glaucoma

[Term]
id: HP:0008043
name: Retinal arteriolar constriction
alt_id: HP:0007952
alt_id: HP:0008510
def: "Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina." [https://orcid.org/0000-0002-0736-9199]
comment: Usually after the first branch, the retinal arteries contain no elastic fibers and the term retinal arteriole is more appropriate. The main changes seen in diseases such as hypertension affect mainly the retinal arterioles rather than the retinal artery.
synonym: "Constricted retinal arterioles" EXACT []
synonym: "Narrow retinal arterioles" EXACT []
synonym: "Retinal arteriolar narrowing" EXACT []
xref: UMLS:C2176208
is_a: HP:0000630 ! Abnormal retinal artery morphology

[Term]
id: HP:0008045
name: Enlarged flash visual evoked potentials
synonym: "High flash visual evoked potentials" EXACT []
xref: UMLS:C4021558
is_a: HP:0030462 ! Abnormal amplitude of flash visual evoked potentials

[Term]
id: HP:0008046
name: Abnormal retinal vascular morphology
def: "A structural abnormality of retinal vasculature." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of retina blood vessels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the retinal vasculature" EXACT []
xref: UMLS:C4024753
is_a: HP:0000479 ! Abnormal retinal morphology
is_a: HP:0008047 ! Abnormality of the vasculature of the eye
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-02T12:09:00Z

[Term]
id: HP:0008047
name: Abnormality of the vasculature of the eye
synonym: "Abnormality of eye blood vessels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024752
is_a: HP:0002597 ! Abnormality of the vasculature
is_a: HP:0012372 ! Abnormal eye morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-02T12:10:00Z

[Term]
id: HP:0008048
name: Abnormal line of Schwalbe morphology
def: "An abnormality of the line of Schwalbe." [https://orcid.org/0000-0002-0736-9199]
comment: Schwalbe's line is the anatomical line found on the posterior surface of the cornea, delineating the outer limit of the corneal endothelium layer.
synonym: "Abnormality of the line of Schwalbe" EXACT []
xref: UMLS:C4021856
is_a: HP:0000481 ! Abnormal cornea morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-02T12:12:00Z

[Term]
id: HP:0008049
name: Abnormality of the extraocular muscles
def: "An abnormality of an extraocular muscle." [https://orcid.org/0000-0002-0736-9199]
comment: There are six extraocular muscles that control the movements of the eye.
xref: UMLS:C4024751
is_a: HP:0011805 ! Abnormal skeletal muscle morphology
is_a: HP:0030669 ! Abnormal ocular adnexa morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-02T12:14:00Z

[Term]
id: HP:0008050
name: Abnormality of the palpebral fissures
def: "An anomaly of the space between the medial and lateral canthi of the two open eyelids." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the opening between the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the palpebral fissures" EXACT layperson []
synonym: "Deformity of the palpebral fissures" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the palpebral fissures" NARROW [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4024750
is_a: HP:0000492 ! Abnormal eyelid morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-02T01:22:00Z

[Term]
id: HP:0008051
name: obsolete Abnormality of the retinal pigment epithelium
is_obsolete: true
replaced_by: HP:0007703

[Term]
id: HP:0008052
name: Retinal fold
def: "A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy." [https://orcid.org/0000-0002-0736-9199]
synonym: "Retinal folds" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:37480005
xref: UMLS:C0229197
is_a: HP:0000479 ! Abnormal retinal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-02T01:37:00Z

[Term]
id: HP:0008053
name: Aplasia/Hypoplasia of the iris
def: "Absence or underdevelopment of the iris." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small iris" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped iris" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024748
is_a: HP:0000525 ! Abnormality iris morphology
is_a: HP:0008055 ! Aplasia/Hypoplasia affecting the uvea
is_a: HP:0008062 ! Aplasia/Hypoplasia affecting the anterior segment of the eye
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-02T01:50:00Z

[Term]
id: HP:0008054
name: Abnormal morphology of the conjunctival vasculature
def: "Any abnormality of the blood vessels of the conjunctiva." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal morphology of the conjunctiva vasculature" EXACT []
synonym: "Abnormal vasculature of the conjunctiva morphology" EXACT []
synonym: "Abnormality of the vasculature of the conjunctiva" EXACT []
xref: UMLS:C4024747
is_a: HP:0000502 ! Abnormal conjunctiva morphology
is_a: HP:0008047 ! Abnormality of the vasculature of the eye
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-02T03:04:00Z

[Term]
id: HP:0008055
name: Aplasia/Hypoplasia affecting the uvea
def: "Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/underdeveloped uvea" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024746
is_a: HP:0000553 ! Abnormal uvea morphology
is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-02T03:24:00Z

[Term]
id: HP:0008056
name: Aplasia/Hypoplasia affecting the eye
synonym: "Absent/small eye" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped eye" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024745
is_a: HP:0012372 ! Abnormal eye morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-02T03:25:00Z

[Term]
id: HP:0008057
name: Aplasia/Hypoplasia affecting the fundus
synonym: "Absent/small fundus" EXACT [https://en.wikipedia.org/wiki/febrile_seizure, https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024744
is_a: HP:0001098 ! Abnormal fundus morphology
is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-02T03:27:00Z

[Term]
id: HP:0008058
name: Aplasia/Hypoplasia of the optic nerve
synonym: "Absent/small optic nerve" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped optic nerve" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024743
is_a: HP:0000587 ! Abnormal optic nerve morphology
is_a: HP:0008057 ! Aplasia/Hypoplasia affecting the fundus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-02T03:28:00Z

[Term]
id: HP:0008059
name: Aplasia/Hypoplasia of the macula
synonym: "Absent/underdeveloped macula" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024742
is_a: HP:0001103 ! Abnormal macular morphology
is_a: HP:0008061 ! Aplasia/Hypoplasia of the retina
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-02T03:29:00Z

[Term]
id: HP:0008060
name: Aplasia/Hypoplasia of the fovea
def: "Congenital absence or underdevelopment of the fovea centralis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/underdeveloped fovea" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024741
is_a: HP:0000493 ! Abnormal foveal morphology
is_a: HP:0008059 ! Aplasia/Hypoplasia of the macula
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-02T03:30:00Z

[Term]
id: HP:0008061
name: Aplasia/Hypoplasia of the retina
synonym: "Absent/small retina" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped retina" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024740
is_a: HP:0000479 ! Abnormal retinal morphology
is_a: HP:0008057 ! Aplasia/Hypoplasia affecting the fundus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-02T03:30:00Z

[Term]
id: HP:0008062
name: Aplasia/Hypoplasia affecting the anterior segment of the eye
def: "Absence or underdevelopment of the anterior segment of the eye." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024739
is_a: HP:0007700 ! Ocular anterior segment dysgenesis
is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-02T03:33:00Z

[Term]
id: HP:0008063
name: Aplasia/Hypoplasia of the lens
def: "Absence or underdevelopment of the lens." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small lens" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped lens" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024738
is_a: HP:0000517 ! Abnormal lens morphology
is_a: HP:0008062 ! Aplasia/Hypoplasia affecting the anterior segment of the eye
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-02T03:33:00Z

[Term]
id: HP:0008064
name: Ichthyosis
alt_id: HP:0000955
alt_id: HP:0007547
def: "An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization." [https://orcid.org/0000-0002-0736-9199]
comment: The ichthyoses are a group of skin diseases characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed. The abnormality in ichthyosis lies in am imbalance in the normal lifecycle of skin in which growth is matched with dying and shedding of skin cells. In ichthyosis, skin cells reproduce at a rate faster than dead skin cells can be shed or reproduce at a normal rate with a reduction in the rate of shedding. Either abnormality leads to a build up of dry and scaly skin. Note that this term refers to the morphological abnormality of the skin and not the disorder. Ichthyosis can have a congenital onset or be acuqired, e.g., paraneoplastic ichthyosis.
subset: hposlim_core
synonym: "Hypertrophic ichthyosis" RELATED []
synonym: "Ichthyosiform abnormality of the skin" EXACT []
synonym: "Ichthyotic skin" EXACT []
xref: MEDDRA:10021198 "Ichthyosis"
xref: UMLS:C0020757
is_a: HP:0011368 ! Epidermal thickening
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-02T03:41:00Z

[Term]
id: HP:0008065
name: Aplasia/Hypoplasia of the skin
synonym: "Absent/small skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024737
is_a: HP:0011355 ! Localized skin lesion
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-02T03:44:00Z

[Term]
id: HP:0008066
name: Abnormal blistering of the skin
alt_id: HP:0007467
alt_id: HP:0007496
alt_id: HP:0200038
def: "The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls." [https://orcid.org/0000-0002-0736-9199, PMID:31596619]
comment: A bulla is a large vesicle described as a rounded or irregularly shaped blister containing serous or seropurulent fluid, equal to or greater than 10mm. In approaching blistering diseases, there are 3 fundamental criteria to consider: (1) the site or level of the blister (or the lowest level of vesiculation): subcorneal, midepidermis, suprabasal, subepidermal; (2) the findings that implicate the mechanism of blister formation (spongiosis, acantholysis, blistering degeneration, or epidermolysis); and (3) the type of inflammation (neutrophilic, lymphocytic, eosinophilic, mixed), if present.
synonym: "Abnormal blistering of the skin" EXACT layperson []
synonym: "Blister" EXACT []
synonym: "Blistering, generalised" EXACT uk_spelling []
synonym: "Blistering, generalized" EXACT layperson []
synonym: "Blisters" EXACT layperson []
synonym: "Skin blisters" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Skin bullae" EXACT []
xref: UMLS:C0241054
xref: UMLS:C2132198
xref: UMLS:C2220104
is_a: HP:0011121 ! Abnormal skin morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-02T03:54:00Z

[Term]
id: HP:0008067
name: Abnormally lax or hyperextensible skin
synonym: "Abnormally loose or hyperelastic skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormally loose or stretchable skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024736
is_a: HP:0010647 ! Abnormal elasticity of skin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-02T03:56:00Z

[Term]
id: HP:0008069
name: Neoplasm of the skin
def: "A tumor (abnormal growth of tissue) of the skin." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Dermatological tumors" EXACT [https://orcid.org/0009-0006-4530-3154]
synonym: "Dermatological tumours" EXACT uk_spelling []
synonym: "Neoplasia of the skin" RELATED []
synonym: "Skin cancer" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Skin cancer (non-melanoma)" BROAD layperson []
synonym: "Skin tumors" EXACT layperson []
synonym: "Skin tumours" EXACT uk_spelling []
synonym: "Tumor of the skin" EXACT layperson []
synonym: "Tumour of the skin" EXACT uk_spelling []
xref: NCIT:C3262
xref: SNOMEDCT_US:126488004
xref: SNOMEDCT_US:372130007
xref: UMLS:C0007114
xref: UMLS:C0037286
is_a: HP:0000951 ! Abnormality of the skin
is_a: HP:0011793 ! Neoplasm by anatomical site
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-02T04:01:00Z

[Term]
id: HP:0008070
name: Sparse hair
alt_id: HP:0001006
alt_id: HP:0002237
alt_id: HP:0002291
alt_id: HP:0002551
alt_id: HP:0004522
alt_id: HP:0004525
alt_id: HP:0004538
alt_id: HP:0004874
def: "Reduced density of hairs." [https://orcid.org/0000-0002-0736-9199, PMID:14676077]
comment: This term applies if the number of hair shafts per unit area is reduced. The term fine hair is used to describe hair with a reduced diameter.
subset: hposlim_core
synonym: "Decreased hair growth" EXACT []
synonym: "Decreased hair growth on body" EXACT []
synonym: "Hypotrichosis" EXACT []
synonym: "Marked hypotrichosis" EXACT []
synonym: "Sparse hair" EXACT layperson []
synonym: "Sparse hair since birth" EXACT []
synonym: "Thin, sparse hair" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
xref: MEDDRA:10021126
xref: SNOMEDCT_US:53602002
xref: SNOMEDCT_US:56558005
xref: UMLS:C0020678
xref: UMLS:C1837770
xref: UMLS:C1860844
is_a: HP:0011362 ! Abnormal hair quantity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-02T04:11:00Z

[Term]
id: HP:0008071
name: Maternal hypertension
def: "Increased blood pressure during a pregnancy." [https://orcid.org/0009-0006-4530-3154]
xref: SNOMEDCT_US:288250001
xref: UMLS:C0565599
is_a: HP:0100603 ! Toxemia of pregnancy

[Term]
id: HP:0008072
name: Maternal virilization in pregnancy
def: "Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024735
is_a: HP:0002686 ! Pregnancy history

[Term]
id: HP:0008073
name: Low maternal circulating estriol concentration
def: "An abnormally low concentration of serum conjugated estriol as compared to normal values for gestational-age." [PMID:19038077]
synonym: "Low maternal serum estriol" EXACT layperson []
xref: UMLS:C4024734
is_a: HP:0011436 ! Abnormal maternal serum screening

[Term]
id: HP:0008074
name: Metatarsal periosteal thickening
xref: UMLS:C1834349
is_a: HP:0001832 ! Abnormal metatarsal morphology
is_a: HP:0030313 ! Abnormal periosteum morphology

[Term]
id: HP:0008075
name: obsolete Progressive pes cavus
is_obsolete: true
replaced_by: HP:0001761

[Term]
id: HP:0008076
name: Osteoporotic tarsals
def: "Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1836872
is_a: HP:0009132 ! Abnormal tarsal bone mineral density

[Term]
id: HP:0008078
name: Thin metatarsal cortices
xref: UMLS:C1850162
is_a: HP:0001832 ! Abnormal metatarsal morphology

[Term]
id: HP:0008079
name: Absent fifth metatarsal
alt_id: HP:0010670
def: "A developmental abnormality characterized by the absence of the fifth metatarsal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent 5th long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent 5th metatarsals" EXACT []
synonym: "Aplasia of the fifth metatarsal bone" EXACT []
xref: UMLS:C1867932
is_a: HP:0010744 ! Absent metatarsal bone

[Term]
id: HP:0008080
name: Hallux varus
def: "Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hitchhiker hallux" EXACT []
synonym: "Hyperabducted big toe" EXACT []
synonym: "Medially deviated halluces" EXACT []
xref: SNOMEDCT_US:274147008
xref: UMLS:C0546297
is_a: HP:0010051 ! Deviation of the hallux

[Term]
id: HP:0008081
name: Pes valgus
def: "An outward deviation of the foot at the talocalcaneal or subtalar joint." []
comment: Valgus refers to the twisting outward of a bone or joint is twisted outward from the center of the body, whereas varus is a twisting toward the center of the body.
synonym: "Valgus foot deformity" EXACT []
xref: SNOMEDCT_US:249803006
xref: SNOMEDCT_US:275344002
xref: UMLS:C1578482
is_a: HP:0001760 ! Abnormal foot morphology

[Term]
id: HP:0008082
name: Medial deviation of the foot
xref: UMLS:C2673401
is_a: HP:0001760 ! Abnormal foot morphology

[Term]
id: HP:0008083
name: 2nd-5th toe middle phalangeal hypoplasia
synonym: "Underdeveloped 2nd-5th middle toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1861376
is_a: HP:0003795 ! Short middle phalanx of toe

[Term]
id: HP:0008087
name: Nonossified fifth metatarsal
def: "The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1844712
is_a: HP:0008371 ! Abnormal metatarsal ossification

[Term]
id: HP:0008089
name: Abnormality of the fifth metatarsal bone
def: "An anomaly of the fifth metatarsal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the 5th long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024733
is_a: HP:0001832 ! Abnormal metatarsal morphology

[Term]
id: HP:0008090
name: Ankylosis of feet small joints
xref: UMLS:C4024732
is_a: HP:0001760 ! Abnormal foot morphology
is_a: HP:0031013 ! Ankylosis

[Term]
id: HP:0008093
name: Short 4th toe
def: "Underdevelopment (hypoplasia) of the fourth toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Short 4th toe" EXACT layperson []
synonym: "Short fourth toe" EXACT layperson []
xref: UMLS:C1862083
is_a: HP:0001831 ! Short toe

[Term]
id: HP:0008094
name: Widely spaced toes
alt_id: HP:0008077
def: "An overall widening of the spaces between the digits." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
comment: This description is based on the width of the gap between the toes. It is usually used when the width of the toes remains normal rather than to describe a situation where the toes are thin or narrow. This term should not be used for the situation where the finding is limited to a gap between T1,2 (see Sandal gap).
synonym: "Widely spaced toes" EXACT layperson []
xref: UMLS:C1969238
is_a: HP:0001780 ! Abnormal toe morphology

[Term]
id: HP:0008095
name: Osteolysis of talus
def: "Osteolysis affecting the talus." [https://orcid.org/0009-0006-4530-3154]
synonym: "Osteolysis of tali" EXACT []
xref: UMLS:C4021556
is_a: HP:0008365 ! Abnormal talus morphology
is_a: HP:0009134 ! Osteolysis involving bones of the feet

[Term]
id: HP:0008096
name: Medially deviated second toe
def: "Medial deviation of the second toe." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1862147
is_a: HP:0010326 ! Deviation of the 2nd toe

[Term]
id: HP:0008097
name: Partial fusion of tarsals
xref: UMLS:C1844520
is_a: HP:0008368 ! Tarsal synostosis

[Term]
id: HP:0008102
name: Expanded metatarsals with widened medullary cavities
xref: UMLS:C1969289
is_a: HP:0001832 ! Abnormal metatarsal morphology

[Term]
id: HP:0008103
name: Delayed tarsal ossification
alt_id: HP:0008145
def: "Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Delayed ankle bone maturation" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Tarsal delayed ossification" EXACT []
xref: UMLS:C1846853
xref: UMLS:C4280418
is_a: HP:0008369 ! Abnormal tarsal ossification

[Term]
id: HP:0008107
name: Plantar crease between first and second toes
def: "The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1867132
is_a: HP:0001869 ! Deep plantar creases

[Term]
id: HP:0008108
name: Advanced tarsal ossification
alt_id: HP:0008137
def: "Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Accelerated ankle bone maturation" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Precociously ossified tarsal bones" EXACT []
xref: UMLS:C1849293
xref: UMLS:C4280417
is_a: HP:0008369 ! Abnormal tarsal ossification

[Term]
id: HP:0008110
name: Equinovarus deformity
xref: SNOMEDCT_US:249808002
xref: SNOMEDCT_US:397932003
xref: UMLS:C0009081
is_a: HP:0001760 ! Abnormal foot morphology

[Term]
id: HP:0008111
name: Broad distal hallux
synonym: "Broad distal big toe" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1863403
is_a: HP:0010055 ! Broad hallux

[Term]
id: HP:0008112
name: Plantar flexion contracture
def: "A type of contracture in which the plantar flexion muscles are contracted." []
comment: Plantar flexion is the movement of the top of the foot away from the leg in a downward motion. With plantar flexion contracture, the abiliuty to passively or actively move the tip of the toe back closer to the leg is limited.
synonym: "Plantar flexion contractures" EXACT plural_form []
xref: UMLS:C1861239
is_a: HP:0034677 ! Ankle contracture

[Term]
id: HP:0008113
name: Multiple plantar creases
xref: UMLS:C1861873
is_a: HP:0100872 ! Abnormality of the plantar skin of foot

[Term]
id: HP:0008114
name: Metatarsal diaphyseal endosteal sclerosis
def: "Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1840420
is_a: HP:0000940 ! Abnormal diaphysis morphology
is_a: HP:0001832 ! Abnormal metatarsal morphology
is_a: HP:0100925 ! Sclerosis of foot bone

[Term]
id: HP:0008115
name: Clinodactyly of the 3rd toe
def: "Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe)." [https://orcid.org/0000-0002-0736-9199]
synonym: "3rd toe clinodactyly" EXACT []
synonym: "Curvature of 3rd toe" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021555
xref: UMLS:C4280416
is_a: HP:0001863 ! Toe clinodactyly
is_a: HP:0010332 ! Deviation of the 3rd toe

[Term]
id: HP:0008116
name: Flexion limitation of toes
def: "Limitation of the ability to bend the toes." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024731
is_a: HP:0001436 ! Abnormality of the foot musculature

[Term]
id: HP:0008117
name: Shortening of the talar neck
xref: UMLS:C1843985
is_a: HP:0008365 ! Abnormal talus morphology

[Term]
id: HP:0008119
name: Deformed tarsal bones
synonym: "Deformed ankle bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1856746
is_a: HP:0001850 ! Abnormality of the tarsal bones

[Term]
id: HP:0008122
name: Calcaneonavicular fusion
def: "Synostosis of the calcaneus with the navicular bone." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024730
is_a: HP:0008368 ! Tarsal synostosis

[Term]
id: HP:0008124
name: Talipes calcaneovarus
def: "A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:30449003
xref: UMLS:C0265646
is_a: HP:0001883 ! Talipes

[Term]
id: HP:0008125
name: Second metatarsal posteriorly placed
xref: UMLS:C1859224
is_a: HP:0001832 ! Abnormal metatarsal morphology

[Term]
id: HP:0008127
name: Bipartite calcaneus
alt_id: HP:0008104
alt_id: HP:0008130
alt_id: HP:0008146
def: "A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification." [https://orcid.org/0000-0002-0736-9199]
synonym: "Delayed coalescence of bipartite calcanei" EXACT []
synonym: "Delayed coalescence of calcaneal ossification centers" EXACT []
synonym: "Delayed coalescence of calcaneal ossification centres" EXACT uk_spelling []
synonym: "Delayed fusion of bipartite calcanei" EXACT []
synonym: "Double calcaneal ossification center" EXACT []
synonym: "Double calcaneal ossification centre" EXACT uk_spelling []
synonym: "Extra calcaneal ossification center" EXACT []
synonym: "Extra calcaneal ossification centre" EXACT uk_spelling []
xref: UMLS:C1835574
is_a: HP:0008364 ! Abnormality of the calcaneus

[Term]
id: HP:0008131
name: Tarsal stippling
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Punctate calcifications of tarsals" EXACT []
synonym: "Punctate tarsal calcification" EXACT []
xref: UMLS:C1844848
is_a: HP:0008369 ! Abnormal tarsal ossification
is_a: HP:0010766 ! Ectopic calcification
is_a: HP:0031051 ! Tarsal sclerosis

[Term]
id: HP:0008132
name: Medial rotation of the medial malleolus
xref: UMLS:C3805726
is_a: HP:0001760 ! Abnormal foot morphology

[Term]
id: HP:0008133
name: Distal tapering of metatarsals
xref: UMLS:C4024729
is_a: HP:0001832 ! Abnormal metatarsal morphology

[Term]
id: HP:0008134
name: Irregular tarsal ossification
alt_id: HP:0008140
def: "Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular ankle bone maturation" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Irregular tarsal centers" EXACT []
synonym: "Irregular tarsal centres" EXACT uk_spelling []
xref: UMLS:C4021554
xref: UMLS:C4280415
is_a: HP:0008369 ! Abnormal tarsal ossification

[Term]
id: HP:0008138
name: Equinus calcaneus
def: "Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees." [https://orcid.org/0000-0002-0736-9199]
synonym: "Equinus deformity of the calcaneus" EXACT []
synonym: "Hindfoot equinus" EXACT []
xref: UMLS:C1860449
is_a: HP:0008364 ! Abnormality of the calcaneus

[Term]
id: HP:0008141
name: Dislocation of toes
synonym: "Dislocation of toes" EXACT layperson []
xref: SNOMEDCT_US:263030002
xref: UMLS:C0434717
is_a: HP:0001780 ! Abnormal toe morphology
is_a: HP:0030311 ! Lower extremity joint dislocation

[Term]
id: HP:0008142
name: Delayed calcaneal ossification
def: "Delayed maturation and calcification of the calcaneus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Delayed heel bone maturation" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024728
xref: UMLS:C4280414
is_a: HP:0008103 ! Delayed tarsal ossification
is_a: HP:0008364 ! Abnormality of the calcaneus

[Term]
id: HP:0008144
name: Flattening of the talar dome
xref: UMLS:C1843986
is_a: HP:0001850 ! Abnormality of the tarsal bones

[Term]
id: HP:0008148
name: Impaired epinephrine-induced platelet aggregation
def: "Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine." [https://orcid.org/0000-0002-7744-1790]
xref: UMLS:C4024727
is_a: HP:0003540 ! Impaired platelet aggregation

[Term]
id: HP:0008150
name: Elevated serum transaminases during infections
def: "Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1864179
is_a: HP:0002910 ! Elevated circulating hepatic transaminase concentration

[Term]
id: HP:0008151
name: Prolonged prothrombin time
alt_id: HP:0012201
def: "Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT." [https://orcid.org/0000-0002-0736-9199, PMID:26351955, PMID:29939529]
comment: The prothrombin time (PT) and the activated partial thromboplastin time (APTT) are the most requested tests to investigate patients with congenital or acquired coagulopathies and drug monitoring. They are defined as the time (seconds) needed to clot platelet-poor plasma upon addition of coagulation triggers, such as tissue factor in complex with phospholipids and calcium chloride (in the PT), or negatively charged phospholipids-activators and calcium chloride (in the APTT). They can hence be considered as global coagulation tests sensitive to deficiencies of many coagulation factors. In brief, they are both sensitive to factor X, V, II and fibrinogen, whereas the PT is only sensitive to factor VII deficiency and the APTT is sensitive to pre-kallikrein, high molecular weight kininogen (HMWK), factor XII, XI, IX and VIII deficiencies. Normal plasma in the PT clots approximately within 10-12 s upon triggering coagulation, and the normal reference range is (usually) narrow. PT results have been reported as clotting time, percentage activity, PT-ratio (patient-to-normal clotting time) and as international normalized ratio (INR). The INR scale has been devised to harmonize results stemming from different thromboplastins from patients on treatment with vitamin K antagonists. Some recommend abandoning the approach of using percentage activity to assess PR.
synonym: "Increased INR" EXACT abbreviation []
synonym: "Increased international normalised ratio" EXACT uk_spelling []
synonym: "increased international normalised ratio" EXACT uk_spelling []
synonym: "Increased international normalized ratio" EXACT []
synonym: "Low factor II activity" EXACT []
synonym: "Prolonged PT" EXACT abbreviation []
synonym: "Reduced factor II activity" EXACT []
synonym: "Reduced prothrombin activity" EXACT []
xref: SNOMEDCT_US:409674002
xref: UMLS:C0151872
is_a: HP:0032199 ! Abnormal prothrombin time

[Term]
id: HP:0008153
name: Periodic hypokalemic paresis
def: "Episodes of muscle weakness associated with reduced levels of potassium in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypokalemic periodic paresis" EXACT []
xref: UMLS:C4021553
is_a: HP:0003768 ! Periodic paralysis

[Term]
id: HP:0008155
name: Mucopolysacchariduria
alt_id: HP:0003567
def: "Excessive amounts of mucopolysaccharide in the urine." [https://orcid.org/0000-0002-0736-9199]
comment: This finding is suggestive of the diagnosis of a mucopolysaccharidosis.
xref: UMLS:C4024726
is_a: HP:0003541 ! Urinary glycosaminoglycan excretion

[Term]
id: HP:0008158
name: Hyperapobetalipoproteinemia
def: "Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein." [https://orcid.org/0000-0002-0736-9199, PMID:6579550]
xref: SNOMEDCT_US:238040008
xref: SNOMEDCT_US:299465007
xref: UMLS:C0020474
is_a: HP:0003119 ! Abnormal circulating lipid concentration

[Term]
id: HP:0008160
name: 3-hydroxydicarboxylic aciduria
def: "The concentration of 2-hydroxydicarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal." [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024725
is_a: HP:0003215 ! Dicarboxylic aciduria

[Term]
id: HP:0008161
name: Absent leukocyte alkaline phosphatase
def: "Alkaline phosphatase levels measured within leukocytes is below detectable levels." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent leukocyte ALP" EXACT abbreviation []
xref: UMLS:C4024724
is_a: HP:0004852 ! Reduced leukocyte alkaline phosphatase

[Term]
id: HP:0008162
name: Asymptomatic hyperammonemia
def: "An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hyperammonemia, asymptomatic" EXACT []
xref: UMLS:C4021552
is_a: HP:0001987 ! Hyperammonemia

[Term]
id: HP:0008163
name: Decreased circulating cortisol level
alt_id: HP:0000874
alt_id: HP:0003291
alt_id: HP:0004317
alt_id: HP:0008220
def: "Abnormally reduced concentration of cortisol in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased cortisol production" EXACT []
synonym: "Glucocorticoid insufficiency" EXACT []
synonym: "Hypocortisolemia" EXACT []
synonym: "Hypocortisolism" RELATED []
synonym: "Low blood cortisol level" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Low to undetectable plasma cortisol" EXACT []
synonym: "Plasma cortisol low" EXACT []
xref: UMLS:C1833054
xref: UMLS:C1836623
xref: UMLS:C1846225
is_a: HP:0011731 ! Abnormality of circulating cortisol level

[Term]
id: HP:0008165
name: obsolete Decreased helper T cell proportion
is_obsolete: true
replaced_by: HP:0032218

[Term]
id: HP:0008166
name: Decreased beta-galactosidase activity
alt_id: HP:0003644
alt_id: HP:0008300
def: "Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma." [HPO_CONTRIBUTOR:gcarletti]
synonym: "Beta-galactosidase deficiency in fibroblasts and white blood cells" EXACT []
synonym: "Beta-galactosidase-1 deficiency" EXACT []
synonym: "Decreased beta galactosidase activity" EXACT []
xref: SNOMEDCT_US:238025006
xref: UMLS:C0085131
xref: UMLS:C1854788
xref: UMLS:C1856559
is_a: HP:0004342 ! Abnormal galactosidase enyzme activity

[Term]
id: HP:0008167
name: Very long chain fatty acid accumulation
xref: UMLS:C3279397
is_a: HP:0032243 ! Abnormal tissue metabolite concentration

[Term]
id: HP:0008169
name: Reduced factor VII activity
def: "Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X." [https://orcid.org/0000-0002-0736-9199]
synonym: "Factor VII deficiency" RELATED []
xref: SNOMEDCT_US:37193007
xref: UMLS:C0015503
xref: UMLS:C4024722
is_a: HP:0010988 ! Abnormality of the extrinsic pathway

[Term]
id: HP:0008176
name: Neonatal unconjugated hyperbilirubinemia
xref: SNOMEDCT_US:281611002
xref: UMLS:C0559506
is_a: HP:0002904 ! Hyperbilirubinemia

[Term]
id: HP:0008178
name: Abnormal cartilage matrix
xref: UMLS:C4024721
is_a: HP:0002763 ! Abnormal cartilage morphology

[Term]
id: HP:0008179
name: Decreased Arden ratio of electrooculogram
def: "An abnormal reduction in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased Arden ratio of EOG" EXACT abbreviation []
xref: UMLS:C4024720
is_a: HP:0030454 ! Abnormal electrooculogram

[Term]
id: HP:0008180
name: Mildly elevated creatine kinase
alt_id: HP:0003211
comment: 'has part' some ('increased amount' and ('inheres in' some blood) and (towards some IMR_0002602) and ('has modifier' some 'mild intensity') and ('has modifier' some abnormal))
synonym: "Mildly elevated CPK" EXACT abbreviation []
synonym: "Mildly elevated creatine phosphokinase" EXACT [https://orcid.org/0000-0001-7941-2961]
synonym: "Mildly elevated serum CK" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961]
synonym: "Mildly elevated serum CPK" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961]
synonym: "Mildly elevated serum phospho-CK" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961]
synonym: "Mildly increased creatine kinase" EXACT []
synonym: "Mildly increased serum creatine kinase" EXACT [https://orcid.org/0000-0001-7941-2961]
synonym: "Moderately elevated serum CK" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961]
synonym: "Moderately elevated serum CPK" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961]
synonym: "Moderately increased serum creatine kinase" EXACT []
xref: UMLS:C1850309
is_a: HP:0003236 ! Elevated circulating creatine kinase concentration

[Term]
id: HP:0008181
name: Abetalipoproteinemia
def: "An absence of low-density lipoprotein cholesterol in the blood." [https://orcid.org/0000-0002-0736-9199]
comment: Beta-lipoprotein cholesterol is a synonym for low-density lipoprotein (LDL) cholesterol.
xref: SNOMEDCT_US:190787008
xref: UMLS:C0000744
is_a: HP:0003563 ! Decreased LDL cholesterol concentration

[Term]
id: HP:0008182
name: Adrenocortical hypoplasia
synonym: "Small adrenal cortex" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024719
is_a: HP:0000849 ! Adrenocortical abnormality

[Term]
id: HP:0008185
name: Precocious puberty in males
def: "The onset of puberty before the age of 9 years in boys." [https://orcid.org/0000-0002-0736-9199]
synonym: "Early onset of puberty in males" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Male precocious puberty" EXACT []
xref: UMLS:C1859979
is_a: HP:0000826 ! Precocious puberty

[Term]
id: HP:0008186
name: Adrenocortical cytomegaly
def: "The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex." [https://orcid.org/0000-0002-0736-9199]
comment: This feature is common in Beckwith Wiedemann syndrome.
xref: UMLS:C1851720
is_a: HP:0011732 ! Abnormal adrenal morphology

[Term]
id: HP:0008187
name: Absence of secondary sex characteristics
alt_id: HP:0008674
def: "No secondary sexual characteristics are present at puberty." [https://orcid.org/0000-0002-0736-9199]
synonym: "No secondary sexual characteristics at puberty" EXACT []
xref: UMLS:C4021551
is_a: HP:0008373 ! Puberty and gonadal disorders

[Term]
id: HP:0008188
name: Thyroid dysgenesis
def: "Thyroid dysgenesis is a descriptive term that should be avoided if more precise information is available. However, the HPO keeps retains this term because it is commonly used in the medical literature. In humans, the process of thyroid morphogenesis occurs from the 3rd to 16th week of gestation. Alterations occurring during this period may result in a thyroid gland that is absent (thyroid agenesis or athyreosis), hypoplastic (thyroid hypoplasia), or located in an unusual position (thyroid ectopy). All these entities are grouped under the term thyroid dysgenesis." [PMID:23698639]
synonym: "Thyroid dysplasia" EXACT []
xref: UMLS:C1563716
is_a: HP:0011772 ! Abnormal thyroid morphology

[Term]
id: HP:0008189
name: Insulin insensitivity
def: "Decreased sensitivity toward insulin." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1864570
is_a: HP:0011014 ! Abnormal glucose homeostasis

[Term]
id: HP:0008191
name: Thyroid agenesis
def: "The congenital absence of the thyroid gland." [https://orcid.org/0000-0002-0736-9199, PMID:2918525]
synonym: "Athyroidal hypothyroidism" RELATED []
xref: UMLS:C0749420
xref: UMLS:C4020805
is_a: HP:0033079 ! Aplasia/Hypoplasia of the thyroid gland

[Term]
id: HP:0008193
name: Primary gonadal insufficiency
xref: UMLS:C1859014
is_a: HP:0008373 ! Puberty and gonadal disorders

[Term]
id: HP:0008194
name: Multiple pancreatic beta-cell adenomas
def: "The presence of multiple pancreatic islet cell adenomas." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024718
is_a: HP:0008261 ! Pancreatic islet cell adenoma

[Term]
id: HP:0008197
name: Absence of pubertal development
xref: UMLS:C1846228
is_a: HP:0008373 ! Puberty and gonadal disorders

[Term]
id: HP:0008198
name: Congenital hypoparathyroidism
alt_id: HP:0008199
alt_id: HP:0008201
def: "Deficiency of parathyroid hormone with congenital onset." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199]
synonym: "Neonatal hypoparathyroidism" EXACT []
xref: UMLS:C1455734
is_a: HP:0000829 ! Hypoparathyroidism

[Term]
id: HP:0008200
name: Primary hyperparathyroidism
alt_id: HP:0008254
def: "A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:36348003
xref: UMLS:C0221002
is_a: HP:0000843 ! Hyperparathyroidism

[Term]
id: HP:0008202
name: Reduced circulating prolactin concentration
def: "A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199, PMID:23378139]
synonym: "Prolactin deficiency" EXACT []
xref: SNOMEDCT_US:67873006
xref: UMLS:C0271586
is_a: HP:0040086 ! Abnormal prolactin level

[Term]
id: HP:0008204
name: Precocious puberty with Sertoli cell tumor
synonym: "Precocious puberty with Sertoli cell tumour" EXACT uk_spelling []
xref: UMLS:C1868007
is_a: HP:0000826 ! Precocious puberty
is_a: HP:0100619 ! Sertoli cell neoplasm

[Term]
id: HP:0008205
name: Insulin-dependent but ketosis-resistant diabetes
def: "Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1842404
is_a: HP:0005978 ! Type II diabetes mellitus

[Term]
id: HP:0008207
name: Primary adrenal insufficiency
alt_id: HP:0000862
alt_id: HP:0008219
alt_id: HP:0008252
def: "Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves." [https://orcid.org/0000-0002-0736-9199]
comment: Deficiency of both glucocorticoids and mineralocorticoids.
synonym: "Addison disease" RELATED []
synonym: "Addison's disease" RELATED []
synonym: "Adrenocortical insufficiency" EXACT []
synonym: "Primary adrenocortical failure" EXACT []
xref: SNOMEDCT_US:363732003
xref: SNOMEDCT_US:373662000
xref: SNOMEDCT_US:386584007
xref: UMLS:C0001403
xref: UMLS:C0405580
is_a: HP:0000846 ! Adrenal insufficiency

[Term]
id: HP:0008208
name: Parathyroid hyperplasia
def: "Hyperplasia of the parathyroid gland." [https://orcid.org/0000-0002-0736-9199]
comment: An absolute increase in the mass of the parenchymal cells of the parathyroid gland leading to an enlargement of the parathyroid glands.
synonym: "Enlarged parathyroid glands" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:9092004
xref: UMLS:C0271844
is_a: HP:0011766 ! Abnormal parathyroid morphology

[Term]
id: HP:0008209
name: Premature ovarian insufficiency
alt_id: HP:0001587
alt_id: HP:0100805
def: "Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea." [https://orcid.org/0000-0002-0736-9199]
comment: The causes of primary ovarian insufficiency (POI) include chromosomal and genetic defects, autoimmune processes, chemotherapy, radiation, infections and surgery, but many are unidentified (idiopathic). The age of 40 is set by convention but is supported by clinical observations. From a statistical point of view, the age limit of 40 is approximately two standard deviations (SD) below the average age at natural menopause (50 plus/minus 4 years).
synonym: "Climacterium praecox" EXACT []
synonym: "Early menopause" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Hypergonadotropic amenorrhea" EXACT []
synonym: "Menopause praecox" EXACT []
synonym: "Premature menopause" EXACT layperson []
synonym: "Premature ovarian failure" EXACT layperson []
synonym: "Primary ovarian insufficiency" EXACT []
xref: SNOMEDCT_US:373717006
xref: UMLS:C0025322
xref: UMLS:C0085215
is_a: HP:0031066 ! Abnormal ovarian physiology

[Term]
id: HP:0008211
name: Parathyroid agenesis
def: "Aplasia of the parathyroid gland." [https://orcid.org/0000-0002-0736-9199]
synonym: "Parathyroid absence" EXACT []
synonym: "Parathyroid aplasia" EXACT []
xref: SNOMEDCT_US:73291005
xref: UMLS:C1321907
is_a: HP:0011768 ! Parathyroid dysgenesis

[Term]
id: HP:0008213
name: Gonadotropin deficiency
alt_id: HP:0008192
def: "A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH)." [https://orcid.org/0000-0002-0538-4547]
synonym: "Pituitary gonadotropin deficiency" EXACT []
xref: SNOMEDCT_US:33927004
xref: UMLS:C0271623
is_a: HP:0000830 ! Anterior hypopituitarism

[Term]
id: HP:0008214
name: Decreased serum estradiol
def: "A reduction below normal concentration of estradiol in the circulation." []
synonym: "Decreased serum estradiol" EXACT layperson []
xref: SNOMEDCT_US:166449002
xref: UMLS:C0241011
is_a: HP:0025133 ! Abnormal serum estradiol

[Term]
id: HP:0008216
name: Adrenal gland dysgenesis
def: "Abnormal development of the adrenal gland." [https://orcid.org/0000-0002-0538-4547]
synonym: "Adrenal gland dysplasia" EXACT []
synonym: "Dysplastic adrenal glands" EXACT []
xref: UMLS:C1856017
is_a: HP:0011732 ! Abnormal adrenal morphology

[Term]
id: HP:0008221
name: Adrenal hyperplasia
def: "Enlargement of the adrenal gland." [https://orcid.org/0000-0002-0538-4547]
synonym: "Enlarged adrenal glands" EXACT layperson []
xref: SNOMEDCT_US:419920004
xref: UMLS:C1621895
is_a: HP:0011732 ! Abnormal adrenal morphology

[Term]
id: HP:0008222
name: Female infertility
synonym: "Female infertility" EXACT layperson []
xref: SNOMEDCT_US:6738008
xref: UMLS:C0021361
is_a: HP:0000789 ! Infertility
is_a: HP:0000868 ! Decreased fertility in females

[Term]
id: HP:0008223
name: Compensated hypothyroidism
def: "Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4)." [PMID:28406057]
synonym: "Mild hypothyroidism" EXACT []
synonym: "Subclinical hypothyroidism" EXACT [PMID:28406057]
xref: SNOMEDCT_US:237523006
xref: UMLS:C0342162
is_a: HP:0000821 ! Hypothyroidism

[Term]
id: HP:0008225
name: Thyroid follicular hyperplasia
xref: UMLS:C1969546
is_a: HP:0008249 ! Thyroid hyperplasia

[Term]
id: HP:0008226
name: Androgen insufficiency
def: "Insufficient amount of androgenic activity." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoandrogenism" EXACT []
xref: SNOMEDCT_US:38825009
xref: UMLS:C0342527
is_a: HP:0008373 ! Puberty and gonadal disorders

[Term]
id: HP:0008227
name: Pituitary resistance to thyroid hormone
def: "A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:360348000
xref: SNOMEDCT_US:360353005
xref: UMLS:C0342198
is_a: HP:0011747 ! Abnormality of the anterior pituitary

[Term]
id: HP:0008229
name: Thyroid lymphangiectasia
alt_id: HP:0008235
def: "The presence of lymphangiectasis of the thyroid gland." [https://orcid.org/0000-0002-0736-9199]
comment: A stretching and widening of the lymphatic vessels of the thyroid gland.
synonym: "Thyroid lymphangiectasis" EXACT []
xref: UMLS:C1856129
is_a: HP:0011772 ! Abnormal thyroid morphology
is_a: HP:0031842 ! Lymphangiectasis

[Term]
id: HP:0008230
name: obsolete Decreased testosterone in males
property_value: terms:creator https://orcid.org/0000-0002-5316-1399
is_obsolete: true
replaced_by: HP:0040171

[Term]
id: HP:0008231
name: Macronodular adrenal hyperplasia
xref: SNOMEDCT_US:237778003
xref: UMLS:C0342495
is_a: HP:0008221 ! Adrenal hyperplasia

[Term]
id: HP:0008232
name: Elevated circulating follicle stimulating hormone level
alt_id: HP:0008324
def: "An elevated concentration of follicle-stimulating hormone in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Elevated follicle stimulating hormone" EXACT []
synonym: "Elevated follicle-stimulating hormone" EXACT []
synonym: "Elevated FSH level" EXACT abbreviation []
synonym: "Elevated plasma follicle stimulating hormone" EXACT []
synonym: "Increased circulating follicle stimulating hormone level" EXACT []
xref: UMLS:C4021550
is_a: HP:0000837 ! Increased circulating gonadotropin level
is_a: HP:0030346 ! Abnormal circulating follicle-stimulating hormone concentration

[Term]
id: HP:0008233
name: Decreased circulating progesterone
def: "An reduced concentration of progesterone in the blood." []
comment: Progesterone is a steroid hormone secreted by the corpus luteum after ovulation during the second half of the menstrual cycle.
synonym: "Decreased serum progesterone" EXACT layperson []
xref: UMLS:C1858995
is_a: HP:0031212 ! Abnormal circulating progesterone level

[Term]
id: HP:0008236
name: Isosexual precocious puberty
xref: SNOMEDCT_US:4294006
xref: UMLS:C0271528
is_a: HP:0000826 ! Precocious puberty

[Term]
id: HP:0008237
name: Hypothalamic hypothyroidism
def: "A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity." [https://orcid.org/0000-0002-0736-9199, PMID:18731015]
comment: The simultaneous occurrence a low thyroid hormone level and a normal or low serum level of thyroid stimulating hormone (TSH) in a patient with hypothyroidism establishes the diagnosis of secondary hypothyroidism. The administration of thyrotropin releasing hormone (TRH), which is normally synthesized and released by the hypothalamus, enables the physician to distinguish between pituitary and hypothalamic causes of hypothyroidism. TRH will normally cause the release of TSH from the pituitary gland. When the hypothalamus does not synthesize or release TRH, the administration of exogenous TRH will result in prompt rise of serum TSH. To date, the cases reported of pituitary hypothyroidism. Hypothalamic hypothyroidism, on the other hand, may either be idiopathic or result from demonstrable hypothalamic disease.
synonym: "Tertiary hypothyroidism" EXACT []
xref: SNOMEDCT_US:37429009
xref: UMLS:C0220998
is_a: HP:0011787 ! Central hypothyroidism
is_a: HP:0012285 ! Abnormal hypothalamus physiology

[Term]
id: HP:0008239
name: Adrenal medullary hypoplasia
def: "Developmental hypoplasia of the adrenal medulla." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small adrenal medulla" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024717
is_a: HP:0000835 ! Adrenal hypoplasia

[Term]
id: HP:0008240
name: Secondary growth hormone deficiency
xref: UMLS:C4024716
is_a: HP:0000824 ! Decreased response to growth hormone stimulation test

[Term]
id: HP:0008242
name: Pseudohypoaldosteronism
alt_id: HP:0008228
def: "A state of renal tubular unresponsiveness or resistance to the action of aldosterone." [https://orcid.org/0000-0002-0736-9199]
comment: Pseudohypoaldosteronism is characterized by hyperkalemia, metabolic acidosis, and normal glomerular filtration rate. This term refers to the phenotypic finding of pseudohypoaldosteronism rather than the disease of idiopathic pseudohypoaldosteronism.
xref: SNOMEDCT_US:77098009
xref: UMLS:C0033805
is_a: HP:0011733 ! Abnormality of adrenal physiology

[Term]
id: HP:0008244
name: Congenital adrenal hypoplasia
alt_id: HP:0008246
def: "A type of adrenal hypoplasia with congenital onset." [https://orcid.org/0000-0002-0736-9199]
synonym: "Congenital adrenal gland hypoplasia" EXACT []
xref: SNOMEDCT_US:93235007
xref: UMLS:C0220766
is_a: HP:0000835 ! Adrenal hypoplasia

[Term]
id: HP:0008245
name: Pituitary hypothyroidism
alt_id: HP:0008248
def: "A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion." [https://orcid.org/0000-0002-0736-9199]
synonym: "Low thyroid gland function due to abnormal pituitary gland" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Secondary hypothyroidism" EXACT []
synonym: "Thyroid stimulating hormone deficiency" EXACT []
synonym: "Thyrotropin deficiency" EXACT []
synonym: "TSH deficient hypothyroidism" EXACT []
xref: SNOMEDCT_US:82598004
xref: UMLS:C3665349
is_a: HP:0000830 ! Anterior hypopituitarism
is_a: HP:0011787 ! Central hypothyroidism

[Term]
id: HP:0008247
name: Euthyroid hyperthyroxinemia
alt_id: HP:0008212
def: "Increased levels of thyroxine without evidence of clinical thyroid disease." [eMedicine:118562, https://orcid.org/0000-0002-0736-9199]
comment: Any functional abnormality of the thyroid gland and the systems that control its rate of production of thyroid hormone (hypothalamic-pituitary-thyroid axis) and the peripheral reactivity to thyroid hormone.
synonym: "Asymptomatic hyperthyroxinemia" EXACT []
xref: UMLS:C4021549
is_a: HP:0002926 ! Abnormality of thyroid physiology

[Term]
id: HP:0008249
name: Thyroid hyperplasia
def: "Hyperplasia of the thyroid gland." [https://orcid.org/0000-0002-0736-9199]
synonym: "Large thyroid" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1112776
is_a: HP:0011772 ! Abnormal thyroid morphology

[Term]
id: HP:0008250
name: obsolete Infantile hypercalcemia
is_obsolete: true
replaced_by: HP:0003072

[Term]
id: HP:0008251
name: Congenital goiter
def: "An enlargement of the thyroid gland with congenital onset." [https://orcid.org/0000-0002-0736-9199]
synonym: "Congenital goitre" EXACT uk_spelling []
xref: SNOMEDCT_US:276565004
xref: UMLS:C0349476
is_a: HP:0000853 ! Goiter

[Term]
id: HP:0008255
name: Transient neonatal diabetes mellitus
xref: SNOMEDCT_US:237603002
xref: UMLS:C0342273
is_a: HP:0000857 ! Neonatal insulin-dependent diabetes mellitus

[Term]
id: HP:0008256
name: Adrenocortical adenoma
alt_id: HP:0008196
def: "Adrenocortical adenomas are benign tumors of the adrenal cortex." [https://orcid.org/0000-0002-0736-9199, PMID:17287480]
synonym: "Adrenocortical adenomas" EXACT []
xref: SNOMEDCT_US:18365006
xref: SNOMEDCT_US:255036008
xref: SNOMEDCT_US:302826002
xref: UMLS:C0206667
is_a: HP:0100641 ! Neoplasm of the adrenal cortex

[Term]
id: HP:0008258
name: Congenital adrenal hyperplasia
def: "A type of adrenal hyperplasia with congenital onset." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:237751000
xref: UMLS:C0001627
is_a: HP:0008221 ! Adrenal hyperplasia

[Term]
id: HP:0008259
name: Adrenocorticotropin receptor defect
def: "Adrenal insufficiency secondary to a defect in the ACTH receptor." [https://orcid.org/0000-0002-0538-4547]
synonym: "ACTH receptor defect" EXACT []
synonym: "ACTHR defect" EXACT []
synonym: "Adrenocorticotropic hormone-resistant adrenal insufficiency" EXACT []
xref: UMLS:C4021548
is_a: HP:0011734 ! Central adrenal insufficiency

[Term]
id: HP:0008261
name: Pancreatic islet cell adenoma
def: "The presence of an adenoma of the pancreas with origin in a pancreatic B cell." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1851697
is_a: HP:0002894 ! Neoplasm of the pancreas
is_a: HP:0006476 ! Abnormality of the pancreatic islet cells
is_a: HP:0030405 ! Pancreatic endocrine tumor

[Term]
id: HP:0008263
name: Thyroid defect in oxidation and organification of iodide
xref: UMLS:C1848800
is_a: HP:0002926 ! Abnormality of thyroid physiology

[Term]
id: HP:0008264
name: Neutrophil inclusion bodies
alt_id: HP:0001932
def: "The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4021547
is_a: HP:0011992 ! Abnormal neutrophil morphology

[Term]
id: HP:0008265
name: Mitochondrial lysine transport defect
xref: UMLS:C4024715
is_a: HP:0003287 ! Abnormality of mitochondrial metabolism

[Term]
id: HP:0008269
name: Increased red cell hemolysis by shear stress
xref: UMLS:C3806125
is_a: HP:0001878 ! Hemolytic anemia

[Term]
id: HP:0008271
name: Abnormal cartilage collagen
def: "Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix." [https://orcid.org/0000-0002-0736-9199, PMID:11879535, PMID:7757081, PMID:9468540]
synonym: "Abnormal hyaline collagen" RELATED []
synonym: "Abnormal type II collagen" RELATED []
xref: UMLS:C4020803
xref: UMLS:C4020804
xref: UMLS:C4021847
is_a: HP:0002763 ! Abnormal cartilage morphology

[Term]
id: HP:0008272
name: Renal tubular lysine transport defect
xref: UMLS:C4024714
is_a: HP:0000124 ! Renal tubular dysfunction

[Term]
id: HP:0008273
name: Transient aminoaciduria
xref: UMLS:C4024713
is_a: HP:0003355 ! Aminoaciduria

[Term]
id: HP:0008275
name: Abnormal light-adapted electroretinogram
synonym: "Abnormal cone-mediated electroretinogram" EXACT []
xref: UMLS:C4024712
is_a: HP:0030466 ! Abnormal full-field electroretinogram

[Term]
id: HP:0008277
name: Abnormal blood zinc concentration
def: "An abnormality of zinc ion homeostasis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal zinc metabolism" RELATED []
synonym: "Abnormality of zinc homeostasis" EXACT []
xref: UMLS:C4020802
xref: UMLS:C4024711
is_a: HP:0011030 ! Abnormal blood transition element cation concentration

[Term]
id: HP:0008278
name: Cerebellar cortical atrophy
def: "Atrophy (wasting) of the cerebellar cortex." [https://orcid.org/0000-0002-0736-9199]
comment: Cerebellar cortical atrophy may be associated with vacuolated or binucleated Purkinje cells.
synonym: "Cerebellar cortex degeneration" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024710
is_a: HP:0001272 ! Cerebellar atrophy

[Term]
id: HP:0008279
name: Transient hyperlipidemia
xref: UMLS:C1850722
is_a: HP:0003077 ! Hyperlipidemia

[Term]
id: HP:0008281
name: Acute hyperammonemia
def: "An increased concentration of ammonia in the blood with sudden onset." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hyperammonemia, acute" EXACT []
xref: UMLS:C1859506
is_a: HP:0001987 ! Hyperammonemia

[Term]
id: HP:0008282
name: Unconjugated hyperbilirubinemia
alt_id: HP:0008289
def: "An increased amount of unconjugated (indirect) bilurubin in the blood." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:7752002
xref: UMLS:C0268306
is_a: HP:0002904 ! Hyperbilirubinemia

[Term]
id: HP:0008283
name: Fasting hyperinsulinemia
def: "An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake." [https://orcid.org/0000-0002-0736-9199]
synonym: "High blood insulin levels while fasting" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1864954
is_a: HP:0000842 ! Hyperinsulinemia

[Term]
id: HP:0008285
name: Transient hypophosphatemia
xref: UMLS:C4024709
is_a: HP:0002148 ! Hypophosphatemia

[Term]
id: HP:0008288
name: Nonketotic hyperglycinemia
xref: SNOMEDCT_US:237939006
xref: UMLS:C0751748
is_a: HP:0002154 ! Hyperglycinemia

[Term]
id: HP:0008290
name: Partial complement factor H deficiency
def: "A partial reduction in level of the complement component Factor H in circulation." [https://emedicine.medscape.com/article/135478-overview]
xref: UMLS:C4024708
is_a: HP:0005369 ! Decreased circulating complement factor H concentration

[Term]
id: HP:0008291
name: Pituitary corticotropic cell adenoma
def: "A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH)." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199]
synonym: "ACTH-producing pituitary adenoma" EXACT []
synonym: "Corticotropin-secreting pituitary adenoma" EXACT []
xref: SNOMEDCT_US:21109002
xref: SNOMEDCT_US:254958004
xref: UMLS:C1306214
is_a: HP:0002893 ! Pituitary adenoma

[Term]
id: HP:0008293
name: Long-chain dicarboxylic aciduria
def: "An increase in the level of long-chain dicarboxylic acid in the urine." [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1837273
is_a: HP:0003215 ! Dicarboxylic aciduria

[Term]
id: HP:0008297
name: Transient hyperphenylalaninemia
def: "A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine)." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:28575006
xref: UMLS:C0268464
is_a: HP:0010893 ! Abnormal circulating phenylalanine concentration

[Term]
id: HP:0008301
name: Dermatan sulfate excretion in urine
def: "An increased concentration of dermatan sulfate in the urine." [HPO_CONTRIBUTOR:gcarletti]
comment: Dermatan sulfate is a a glycosaminoglycan (mucopolysaccharide) found in skin, blood vessels, heart valves, tendons, and lungs.
synonym: "Dermatan sulphate excretion in urine" EXACT uk_spelling []
xref: UMLS:C1854774
is_a: HP:0008155 ! Mucopolysacchariduria

[Term]
id: HP:0008303
name: Olivary degeneration
def: "Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024707
is_a: HP:0011441 ! Abnormal medulla oblongata morphology

[Term]
id: HP:0008305
name: Exercise-induced myoglobinuria
alt_id: HP:0008319
def: "Presence of myoglobin in the urine following exercise." [https://orcid.org/0000-0002-0736-9199]
synonym: "Exercise-induced myoglobinuria in adults" RELATED []
xref: UMLS:C1845155
xref: UMLS:C1860069
is_a: HP:0002913 ! Myoglobinuria

[Term]
id: HP:0008306
name: Abnormal iron deposition in mitochondria
xref: UMLS:C3151556
is_a: HP:0003287 ! Abnormality of mitochondrial metabolism

[Term]
id: HP:0008309
name: Medium chain dicarboxylic aciduria
def: "An increase in the level of medium chain dicarboxylic acid in the urine." [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1860081
is_a: HP:0003215 ! Dicarboxylic aciduria

[Term]
id: HP:0008311
name: Spinal cord posterior columns myelin loss
xref: UMLS:C4024706
is_a: HP:0002143 ! Abnormal spinal cord morphology
is_a: HP:0007305 ! CNS demyelination

[Term]
id: HP:0008314
name: Decreased activity of mitochondrial complex II
def: "A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria." [https://orcid.org/0000-0002-0736-9199]
synonym: "Respiratory complex II deficiency" RELATED []
xref: UMLS:C4020801
xref: UMLS:C4024705
is_a: HP:0008972 ! Decreased activity of mitochondrial respiratory chain

[Term]
id: HP:0008315
name: Decreased plasma free carnitine
def: "A decreased concentration of free (unbound) carnitine in the blood." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4015009
is_a: HP:0003234 ! Decreased circulating carnitine concentration

[Term]
id: HP:0008316
name: Abnormal mitochondria in muscle tissue
def: "An abnormality of the mitochondria in muscle tissue." [https://orcid.org/0000-0002-0736-9199]
comment: This finding is typically demonstrated by muscle biopsy.
synonym: "Abnormal mitochondria in muscle" EXACT []
xref: UMLS:C4021546
is_a: HP:0003287 ! Abnormality of mitochondrial metabolism
is_a: HP:0011805 ! Abnormal skeletal muscle morphology

[Term]
id: HP:0008318
name: Elevated leukocyte alkaline phosphatase
def: "Increased alkaline phosphatase measured within leukocytes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Elevated leukocyte ALP" EXACT abbreviation []
xref: UMLS:C4024704
is_a: HP:0003155 ! Elevated circulating alkaline phosphatase concentration

[Term]
id: HP:0008320
name: Impaired collagen-induced platelet aggregation
def: "Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics." [https://orcid.org/0000-0002-4381-2442]
xref: UMLS:C4024703
is_a: HP:0003540 ! Impaired platelet aggregation

[Term]
id: HP:0008321
name: Reduced factor X activity
def: "Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased factor x activity" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Factor X deficiency" RELATED []
xref: SNOMEDCT_US:76642003
xref: UMLS:C0015519
xref: UMLS:C4024702
is_a: HP:0010990 ! Abnormality of the common coagulation pathway

[Term]
id: HP:0008322
name: Abnormal mitochondrial morphology
def: "Any structural anomaly of the mitochondria." [https://orcid.org/0000-0002-0736-9199]
comment: This feature may be assessed by means of electron microscopy.
synonym: "Abnormal mitochondrion morphology" EXACT []
xref: UMLS:C4014650
is_a: HP:0012103 ! Abnormality of the mitochondrion

[Term]
id: HP:0008323
name: Abnormal light- and dark-adapted electroretinogram
def: "An abnormality of the combined rod-and-cone response on electroretinogram." [https://orcid.org/0000-0002-0736-9199]
comment: The dark-adapted 3.0 ERG can be used to elicit a combined rod-cone response.
synonym: "Abnormal rod and cone electroretinogram" EXACT []
xref: UMLS:C3151111
is_a: HP:0030466 ! Abnormal full-field electroretinogram

[Term]
id: HP:0008326
name: Reduced circulating vitamin B6 circulating
def: "An abnormally decreased concentration of vitamin B6 in the blood circulation." []
synonym: "Reduced circulating vitamin B6 level" EXACT []
synonym: "Reduced vitamin b6 levels" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Vitamin B6 deficiency" EXACT layperson []
xref: SNOMEDCT_US:386080007
xref: UMLS:C0936215
is_a: HP:0032476 ! Abnormal circulating vitamin B6 concentration

[Term]
id: HP:0008327
name: Microscopic nephrocalcinosis
def: "The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma." [https://orcid.org/0000-0002-0736-9199]
comment: The qualifier microscopic is used to indicate that the nephrocalcinosis cannot be observed on visual or radiologic examination without further magnification (as can macroscopic nephrocalcinosis).
xref: SNOMEDCT_US:236444003
xref: UMLS:C0403474
is_a: HP:0000121 ! Nephrocalcinosis

[Term]
id: HP:0008330
name: Reduced von Willebrand factor activity
def: "Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces." [https://orcid.org/0000-0002-0736-9199, PMID:19694940]
comment: Von Willebrand factor (VWF) is a key hemostatic protein, but documenting its function through laboratory tests is not always straightforward. VWF serves as a carrier protein for factor VIII (FVIII), and also facilitates platelet adhesion through its interaction with platelet GPIb on the platelet surface and through its binding to the subendothelial matrix. This interaction is driven in vivo by shear stress, which induces a conformational change in VWF that allows it to bind platelet GPIb. In vitro, however, this interaction is induced by the antibiotic ristocetin, which enables VWF and platelet GPIb to interact in the absence of shear forces. Laboratory testing of VWF utilizes ristocetin in the VWF ristocetin cofactor activity assay (VWF:RCo), which is a measure of VWF binding to platelets, or by ristocetin-induced platelet aggregation (RIPA).
synonym: "Decreased von willebrand factor activity" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4024701
is_a: HP:0012146 ! Abnormality of von Willebrand factor

[Term]
id: HP:0008331
name: Elevated creatine kinase after exercise
synonym: "Elevated CK after exercise" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961]
synonym: "Elevated CPK after exercise" EXACT abbreviation []
synonym: "Elevated creatine phosphokinase after exercise" EXACT [https://en.wikipedia.org/wiki/creatine_kinase, https://orcid.org/0000-0001-6908-9849]
synonym: "Elevated phospho-CK after exercise" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961]
synonym: "Elevated phospho-creatine kinase after exercise" EXACT [https://en.wikipedia.org/wiki/creatine_kinase, https://orcid.org/0000-0001-6908-9849]
synonym: "Increased CK after exercise" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961]
synonym: "Increased creatine kinase after exercise" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Increased creatine phosphokinase after exercise" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Increased phospho-CK after exercise" EXACT [http://purl.obolibrary.org/obo/hp#abbreviation, https://orcid.org/0000-0001-7941-2961]
synonym: "Increased phospho-creatine kinase after exercise" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4024700
is_a: HP:0003236 ! Elevated circulating creatine kinase concentration

[Term]
id: HP:0008335
name: obsolete Renal aminoaciduria
xref: UMLS:C0002534
is_obsolete: true
replaced_by: HP:0003355

[Term]
id: HP:0008336
name: Complex organic aciduria
xref: UMLS:C3151953
is_a: HP:0001992 ! Organic aciduria

[Term]
id: HP:0008338
name: Partial functional complement factor D deficiency
def: "A partial reduction in level of the complement component Factor D in circulation." []
synonym: "Partial functional adipsin deficiency" EXACT [https://en.wikipedia.org/wiki/Factor_D, https://orcid.org/0000-0001-6908-9849]
synonym: "Partial functional factor d deficiency" EXACT [https://en.wikipedia.org/wiki/factor_d, https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4024699
is_a: HP:0004431 ! Reduced circulating complement concentration

[Term]
id: HP:0008339
name: Diaminoaciduria
def: "An increased urine level of any amino acid carrying two amino groups (Asparagine, glutamine and lysine, cystine, ornithine)." []
xref: UMLS:C4024698
is_a: HP:0033100 ! Increased proteinogenic amino acid level in urine

[Term]
id: HP:0008341
name: Distal renal tubular acidosis
def: "A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Renal tubular acidosis, type I" EXACT []
xref: SNOMEDCT_US:236461000
xref: SNOMEDCT_US:86210009
xref: UMLS:C1704380
is_a: HP:0001947 ! Renal tubular acidosis

[Term]
id: HP:0008344
name: Elevated circulating branched chain amino acid concentration
def: "Concentration of a branched chain amino acid in the blood above the upper limit of normal." [HPO_CONTRIBUTOR:gcarletti]
xref: UMLS:C4024697
is_a: HP:0010892 ! Abnormal circulating branched chain amino acid concentration

[Term]
id: HP:0008345
name: Hypoplasia of the iris dilator muscle
def: "Underdevelopment of the dilatator pupillae." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplasia of the pupil dilator muscle" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Underdeveloped iris dilator muscle" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Underdeveloped pupil dilator muscle" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4024696
is_a: HP:0007676 ! Hypoplasia of the iris

[Term]
id: HP:0008346
name: Increased red cell sickling tendency
synonym: "Increased sickling of erythrocytes" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Increased sickling of red cells" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4024695
is_a: HP:0011895 ! Anemia due to reduced life span of red cells

[Term]
id: HP:0008347
name: Decreased activity of mitochondrial complex IV
def: "A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria." [https://orcid.org/0000-0002-0736-9199]
synonym: "Respiratory complex IV deficiency" RELATED []
xref: UMLS:C4020800
is_a: HP:0008972 ! Decreased activity of mitochondrial respiratory chain

[Term]
id: HP:0008348
name: Decreased circulating IgG2 concentration
alt_id: HP:0008310
def: "A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased circulating IgG2 level" EXACT []
synonym: "Decreased IgG2 level in blood" EXACT []
synonym: "Immunoglobulin IgG2 deficiency" EXACT []
synonym: "Reduced IgG2 levels" EXACT []
xref: UMLS:C4021545
is_a: HP:0032135 ! Decreased circulating IgG subclass concentration

[Term]
id: HP:0008352
name: Impaired platelet adhesion
def: "An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation." [https://orcid.org/0000-0002-0736-9199]
synonym: "Impaired thrombocytes adhesion" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4024694
is_a: HP:0011869 ! Abnormal platelet function

[Term]
id: HP:0008353
name: Neutral hyperaminoaciduria
def: "The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine." [PMID:30177408]
xref: UMLS:C1856194
is_a: HP:0033100 ! Increased proteinogenic amino acid level in urine

[Term]
id: HP:0008354
name: Factor X activation deficiency
def: "Reduced ability to transform factor X into its activated form factor Xa." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024693
is_a: HP:0008321 ! Reduced factor X activity

[Term]
id: HP:0008356
name: obsolete Combined hyperlipidemia
is_obsolete: true
consider: HP:0003077

[Term]
id: HP:0008357
name: Reduced factor XIII activity
def: "Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024692
is_a: HP:0010990 ! Abnormality of the common coagulation pathway

[Term]
id: HP:0008358
name: Hyperprolinemia
def: "An increased concentration of proline in the blood." [HPO_CONTRIBUTOR:gcarletti]
synonym: "Prolinemia" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:59655002
xref: UMLS:C0268528
is_a: HP:0010907 ! Abnormal circulating proline concentration

[Term]
id: HP:0008360
name: Neonatal hypoproteinemia
def: "A neonatal decreased concentration of proteins in the blood." [HPO_CONTRIBUTOR:gcarletti]
xref: UMLS:C4024691
is_a: HP:0003075 ! Hypoproteinemia

[Term]
id: HP:0008361
name: Corticospinal tract pallor
xref: UMLS:C4024690
is_a: HP:0002492 ! Abnormal corticospinal tract morphology

[Term]
id: HP:0008362
name: Aplasia/Hypoplasia of the hallux
alt_id: HP:0004694
alt_id: HP:0008118
alt_id: HP:0008126
def: "Absence or underdevelopment of the big toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small big toe" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Absent/underdeveloped big toe" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Aplastic/hypoplastic halluces" EXACT []
xref: UMLS:C1836213
is_a: HP:0001844 ! Abnormal hallux morphology
is_a: HP:0010760 ! Absent toe
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-04T11:33:00Z

[Term]
id: HP:0008363
name: Aplasia/Hypoplasia of the tarsal bones
alt_id: HP:0008109
def: "Absence or underdevelopment of the tarsal bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small ankle bone" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Absent/underdeveloped ankle bone" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Aplastic/hypoplastic tarsals" EXACT []
xref: UMLS:C1848671
is_a: HP:0001850 ! Abnormality of the tarsal bones
is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-04T11:35:00Z

[Term]
id: HP:0008364
name: Abnormality of the calcaneus
def: "An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal heel bone" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4024689
is_a: HP:0001850 ! Abnormality of the tarsal bones
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-04T11:38:00Z

[Term]
id: HP:0008365
name: Abnormal talus morphology
def: "An abnormality of the talus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal large bone of ankle" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4024688
is_a: HP:0001850 ! Abnormality of the tarsal bones
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-04T11:43:00Z

[Term]
id: HP:0008366
name: Foot joint contracture
alt_id: HP:0100492
def: "Contractures of one or more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue." []
synonym: "Contractures involving the joints of the feet" EXACT []
synonym: "Contractures of the foot joints" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Joint contractures involving the joints of the feet" EXACT []
xref: SNOMEDCT_US:239742004
xref: UMLS:C0343149
is_a: HP:0001760 ! Abnormal foot morphology
is_a: HP:0005750 ! Lower-limb joint contracture
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-04T11:44:00Z

[Term]
id: HP:0008368
name: Tarsal synostosis
alt_id: HP:0001851
alt_id: HP:0001957
alt_id: HP:0008092
alt_id: HP:0100330
def: "Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fused ankle bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Synostosis involving tarsal bones" EXACT []
synonym: "Synostosis of tarsal bones" EXACT []
synonym: "Tarsal bone fusion" EXACT []
synonym: "Tarsal bone synostosis" EXACT []
synonym: "Tarsal fusion" EXACT []
synonym: "Tarsal fusions" EXACT []
xref: SNOMEDCT_US:27173008
xref: UMLS:C0265654
is_a: HP:0001850 ! Abnormality of the tarsal bones
is_a: HP:0009140 ! Synostosis involving bones of the feet
is_a: HP:0100266 ! Synostosis of carpals/tarsals
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-04T11:52:00Z

[Term]
id: HP:0008369
name: Abnormal tarsal ossification
def: "An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal maturation of ankle bones" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormal ossification of tarsal bones" EXACT []
synonym: "Hardening of ankle bones" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4021544
xref: UMLS:C4025075
is_a: HP:0001850 ! Abnormality of the tarsal bones
is_a: HP:0010675 ! Abnormal foot bone ossification
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-04T11:53:00Z

[Term]
id: HP:0008371
name: Abnormal metatarsal ossification
def: "Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal maturation of long bone of foot" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormal ossification involving metatarsal bones" EXACT []
xref: UMLS:C4021543
is_a: HP:0001832 ! Abnormal metatarsal morphology
is_a: HP:0010675 ! Abnormal foot bone ossification
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-04T11:59:00Z

[Term]
id: HP:0008372
name: Abnormal circulating vitamin A concentration
def: "Concentration of vitamin A in the blood circulation outside limits of normal." []
xref: UMLS:C4024686
is_a: HP:0100508 ! Abnormality of vitamin metabolism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-04T12:29:00Z

[Term]
id: HP:0008373
name: Puberty and gonadal disorders
alt_id: HP:0000827
synonym: "Puberty and gonadal disorders" EXACT layperson []
xref: UMLS:C4024685
is_a: HP:0000818 ! Abnormality of the endocrine system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-04T12:35:00Z

[Term]
id: HP:0008376
name: Nasal dysarthria
synonym: "Breathy speech" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1834664
is_a: HP:0001260 ! Dysarthria
property_value: terms:contributor https://orcid.org/0000-0001-5395-5036
property_value: terms:contributor https://orcid.org/0000-0001-6886-767X
property_value: terms:contributor https://orcid.org/0000-0001-8423-2623
property_value: terms:contributor https://orcid.org/0000-0001-9114-8737
property_value: terms:contributor https://orcid.org/0000-0002-0375-6247
property_value: terms:contributor https://orcid.org/0000-0002-2414-5605
property_value: terms:contributor https://orcid.org/0000-0002-4487-3589

[Term]
id: HP:0008383
name: Slow-growing nails
alt_id: HP:0008411
def: "Nails whose growth is slower than normal." [https://orcid.org/0000-0002-0736-9199]
synonym: "Slow-growing nails" EXACT layperson []
xref: UMLS:C1835238
is_a: HP:0030807 ! Abnormal nail growth

[Term]
id: HP:0008386
name: Aplasia/Hypoplasia of the nails
alt_id: HP:0008385
def: "Aplasia or developmental hypoplasia of the nail." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/hypoplastic nails" EXACT []
synonym: "Absent/small nails" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Absent/underdeveloped nails" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Nail aplasia/hypoplasia" EXACT []
xref: UMLS:C1859077
is_a: HP:0001597 ! Abnormal nail morphology

[Term]
id: HP:0008388
name: Abnormal toenail morphology
def: "An anomaly of the toenail." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the toenail" EXACT layperson []
synonym: "Abnormality of the toenails" EXACT layperson []
xref: SNOMEDCT_US:700189007
xref: UMLS:C3839753
is_a: HP:0001597 ! Abnormal nail morphology

[Term]
id: HP:0008390
name: Recurrent loss of toenails and fingernails
def: "Repeated loss, or shedding, of the nails of the fingers and toes." [https://orcid.org/0000-0003-1773-4011]
synonym: "Recurrent loss of toenails and fingernails" EXACT layperson []
synonym: "Recurrent shedding of toenails and fingernails" EXACT layperson []
xref: UMLS:C4021542
is_a: HP:0001806 ! Onycholysis

[Term]
id: HP:0008391
name: Dystrophic fingernails
def: "The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate." [https://orcid.org/0000-0002-0736-9199]
synonym: "Poor fingernail formation" EXACT layperson [http://naildystrophy.com/, https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C3551426
is_a: HP:0001231 ! Abnormal fingernail morphology
is_a: HP:0008404 ! Nail dystrophy

[Term]
id: HP:0008392
name: Subungual hyperkeratosis
def: "A thickening of the stratum corneum in the region beneath the nails." [https://orcid.org/0000-0002-0736-9199]
synonym: "Thickened, discolored skin under nail" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Thickened, discoloured skin under nail" EXACT uk_spelling []
xref: SNOMEDCT_US:10165000
xref: UMLS:C0038605
is_a: HP:0000962 ! Hyperkeratosis
is_a: HP:0009723 ! Abnormal subungual morphology

[Term]
id: HP:0008393
name: Congenital curved nail of fourth toe
xref: UMLS:C4024684
is_a: HP:0008388 ! Abnormal toenail morphology

[Term]
id: HP:0008394
name: Congenital onychodystrophy
synonym: "Congenital malformed nails" BROAD layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1393669
xref: UMLS:C4280413
is_a: HP:0002164 ! Nail dysplasia

[Term]
id: HP:0008396
name: Chronic monilial nail infection
def: "Chronic infection of the nails by Candida species." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fungal infection of the nail" EXACT []
xref: UMLS:C4024683
is_a: HP:0001597 ! Abnormal nail morphology

[Term]
id: HP:0008398
name: Hypoplastic fifth fingernail
alt_id: HP:0200103
def: "A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Underdeveloped fifth fingernail" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Underdeveloped fingernail of little finger" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Underdeveloped fingernail of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Underdeveloped fingernail of pinky finger" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4024682
is_a: HP:0001804 ! Hypoplastic fingernail

[Term]
id: HP:0008399
name: Circumungual hyperkeratosis
def: "A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails." [https://orcid.org/0000-0002-0736-9199]
synonym: "Thick skin around nails" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4024681
is_a: HP:0000962 ! Hyperkeratosis
is_a: HP:0100803 ! Abnormal periungual morphology

[Term]
id: HP:0008400
name: Onycholysis of distal fingernails
def: "Detachment of the distal fingernails from the nail bed." [https://orcid.org/0000-0002-0736-9199]
synonym: "Detachment of outermost fingernails" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024680
is_a: HP:0040039 ! Onycholysis of fingernails

[Term]
id: HP:0008401
name: Onychogryphosis of toenails
alt_id: HP:0008395
alt_id: HP:0008405
def: "Thickened toenails." [https://orcid.org/0000-0002-0736-9199]
synonym: "Overgrowth and curving of toenails" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024679
is_a: HP:0001805 ! Onychogryphosis

[Term]
id: HP:0008402
name: Ridged fingernail
def: "Longitudinal, linear prominences in the fingernail plate." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
synonym: "Longitudinally grooved fingernails" EXACT layperson []
synonym: "Ridged fingernail" EXACT layperson []
synonym: "Ridged fingernails" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1849392
is_a: HP:0001231 ! Abnormal fingernail morphology
is_a: HP:0001807 ! Ridged nail

[Term]
id: HP:0008404
name: Nail dystrophy
alt_id: HP:0008382
alt_id: HP:0008397
alt_id: HP:0008408
def: "Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate." [PMID:19675700]
comment: Onychodystrophy is a widely used, yet rarely defined term. Onychodystrophy can be caused by congenital nail diseases, systemic disorders, fungal and nonfungal infections, various noninfectious inflammatory dermatologic diseases of the nail unit and tumors. Onychodystrophy can also occur secondarily to systemic drug use.
synonym: "Dystrophic nails" EXACT []
synonym: "Onychodystrophy" EXACT []
synonym: "Poor nail formation" EXACT layperson [http://naildystrophy.com/, https://orcid.org/0000-0001-5208-3432]
xref: MEDDRA:10028698 "Nail dystrophy"
xref: SNOMEDCT_US:87065009
xref: UMLS:C0221260
is_a: HP:0001597 ! Abnormal nail morphology

[Term]
id: HP:0008407
name: Hyperconvex thumb nails
synonym: "Tightly curved thumb nail" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1855290
is_a: HP:0001795 ! Hyperconvex nail

[Term]
id: HP:0008410
name: Subungual hyperkeratotic fragments
xref: UMLS:C1852311
is_a: HP:0000962 ! Hyperkeratosis
is_a: HP:0009723 ! Abnormal subungual morphology

[Term]
id: HP:0008414
name: Lumbar kyphosis in infancy
synonym: "Hunched back in infancy" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Round back in infancy" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1863423
is_a: HP:0008454 ! Lumbar kyphosis

[Term]
id: HP:0008416
name: Six lumbar vertebrae
xref: UMLS:C1839279
is_a: HP:0002946 ! Supernumerary vertebrae

[Term]
id: HP:0008417
name: Vertebral hypoplasia
alt_id: HP:0008431
def: "Small, underdeveloped vertebral bodies." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Underdeveloped vertebrae" EXACT layperson []
xref: SNOMEDCT_US:205456006
xref: UMLS:C0345394
is_a: HP:0008515 ! Aplasia/Hypoplasia of the vertebrae

[Term]
id: HP:0008418
name: Squared-off platyspondyly
xref: UMLS:C1849051
is_a: HP:0000926 ! Platyspondyly

[Term]
id: HP:0008419
name: Intervertebral disk degeneration
def: "The presence of degenerative changes of intervertebral disk." [https://orcid.org/0000-0002-0736-9199]
synonym: "Degeneration of intervertebral discs" EXACT uk_spelling []
synonym: "Degeneration of intervertebral disks" EXACT []
synonym: "Degenerative disc disease" EXACT uk_spelling []
synonym: "Degenerative disk disease" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Degenerative intervertebral disc" EXACT uk_spelling []
synonym: "Degenerative intervertebral disk" EXACT []
xref: SNOMEDCT_US:77547008
xref: UMLS:C0158266
is_a: HP:0005108 ! Abnormal intervertebral disk morphology

[Term]
id: HP:0008420
name: Punctate vertebral calcifications
def: "The presence of punctiform calcification of the bone of the vertebral bodies." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024678
is_a: HP:0003468 ! Abnormal vertebral morphology

[Term]
id: HP:0008421
name: Tall lumbar vertebral bodies
xref: UMLS:C1863313
is_a: HP:0004570 ! Increased vertebral height

[Term]
id: HP:0008422
name: Vertebral wedging
def: "An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other." [https://orcid.org/0000-0002-0736-9199]
synonym: "anterior wedging" EXACT []
synonym: "Wedge-shaped vertebrae" EXACT layperson []
synonym: "Wedged vertebrae" EXACT []
xref: UMLS:C1695776
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0008423
name: Spinal dysplasia
def: "The presence of developmental dysplasia of the vertebral column." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4021853
is_a: HP:0000925 ! Abnormality of the vertebral column

[Term]
id: HP:0008424
name: Hypoplastic 5th lumbar vertebrae
synonym: "Underdeveloped 5th lumbar vertebrae" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1859366
is_a: HP:0008417 ! Vertebral hypoplasia

[Term]
id: HP:0008425
name: Cuboid-shaped thoracolumbar vertebral bodies
xref: UMLS:C1855289
is_a: HP:0004634 ! Cuboid-shaped vertebral bodies

[Term]
id: HP:0008428
name: Vertebral clefting
alt_id: HP:0000942
def: "Schisis (cleft or cleavage) of vertebral bodies." [https://orcid.org/0000-0002-0736-9199]
comment: Cleft vertebrae result when there are two, instead of one, primary ossification centers in a vertebral body. An unossified cartilaginous brdige may be observed radiographically with the shape of a cleft. If the two ossification centers are ventral/dorsal, a coronal cleft is observed, and if the two ossification centers are left/right, than a sagittal cleft is observed.
synonym: "Vertebral clefts" EXACT []
xref: UMLS:C1855828
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0008430
name: Anterior beaking of lumbar vertebrae
alt_id: HP:0005664
def: "Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Anterior tongue-like protrusion of lumbar vertebral bodies" EXACT []
xref: UMLS:C4021541
is_a: HP:0004568 ! Beaking of vertebral bodies

[Term]
id: HP:0008432
name: Anterior wedging of L1
def: "An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front)." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024677
is_a: HP:0008422 ! Vertebral wedging

[Term]
id: HP:0008433
name: Reversed usual vertebral column curves
xref: UMLS:C4024676
is_a: HP:0000925 ! Abnormality of the vertebral column

[Term]
id: HP:0008434
name: Hypoplastic cervical vertebrae
alt_id: HP:0008415
synonym: "Cervical vertebrae hypoplasia" EXACT []
synonym: "Underdeveloped cervical vertebrae" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1835570
is_a: HP:0008417 ! Vertebral hypoplasia
is_a: HP:0011041 ! Aplasia/Hypoplasia of the cervical spine

[Term]
id: HP:0008435
name: Absent in utero ossification of vertebral bodies
xref: UMLS:C1842698
is_a: HP:0004606 ! Unossified vertebral bodies

[Term]
id: HP:0008436
name: Absent/hypoplastic coccyx
synonym: "Absent/small tailbone" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Absent/underdeveloped tailbone" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1856644
is_a: HP:0008517 ! Aplasia/Hypoplasia of the sacrum

[Term]
id: HP:0008437
name: Bifid thoracic vertebrae
xref: UMLS:C2751478
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0008438
name: Vertebral arch anomaly
def: "A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra." [https://orcid.org/0000-0002-0736-9199]
comment: A vertebral arch is the posterior part of a vertebra and forms the canal through which the spinal cord passes. A vertebral arch consists of (i) a pair of vertebral pedicles, which are short thick processes that extend from the vertebral body to connect the body to the vertebral arch; (ii) a pari of vertebral laminae (broad plates that extending dorsally and medially from the pedicles fusing with one another to complete the roof of the vertebral arch); (iii) the spinous process (a process that is directed backward and downward from the junction of the laminae and to which muscles and ligaments attach); (iv) two superior articular processes and two inferior articular processes that articulate between two adjacent vertebrae); and (v) two transverse processes that extend at either side from the point where the lamina joins the pedicle, between the superior and inferior articular processes and allow the attachment of muscles and ligaments.
synonym: "Vertebral arch abnormalities" EXACT []
xref: UMLS:C1835764
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0008439
name: Lumbar hemivertebrae
def: "Absence of one half of the vertebral body in the lumbar spine." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:93167001
xref: UMLS:C0432149
is_a: HP:0002937 ! Hemivertebrae

[Term]
id: HP:0008440
name: C1-C2 vertebral abnormality
def: "Any abnormality of the atlas and the axis." [https://orcid.org/0000-0002-0736-9199]
comment: The atlas is the first cervical vertebral body and the axis is the second vertebral body.
xref: UMLS:C4024675
is_a: HP:0003319 ! Abnormality of the cervical spine

[Term]
id: HP:0008441
name: Herniation of intervertebral nuclei
def: "The presence of one or more herniated nucleus pulposus of intervertebral disk." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Herniated disc" BROAD uk_spelling []
synonym: "Herniated disk" BROAD layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Herniated intervertebral nuclei" EXACT []
xref: SNOMEDCT_US:73589001
xref: UMLS:C0021818
xref: UMLS:C1832597
is_a: HP:0005108 ! Abnormal intervertebral disk morphology

[Term]
id: HP:0008442
name: Vertebral hyperostosis
def: "Excessive growth of the bones of the vertebral bodies." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1834057
is_a: HP:0003468 ! Abnormal vertebral morphology
is_a: HP:0100774 ! Hyperostosis

[Term]
id: HP:0008443
name: Neuropathic spinal arthropathy
def: "A progressive disorder of vertebral joint degeneration that occurs in the setting of any condition characterized by decreased afferent innervation, involving loss of deep pain and proprioceptive sensation in the vertebral column. Patients most commonly present with symptoms of lower back pain, sitting imbalance, progressive spinal deformity (usually kyphosis), and an audible clicking sound on changing postures." [PMID:29755231]
comment: Neuropathic spinal arthropathy presents almost exclusively in patients who have suffered traumatic spinal cord injury or less commonly, secondary to syringomyelia, meningocele, myelomeningocele, diabetes mellitus, peripheral neuropathies, anesthetic leprosy, congenital analgesia, Parkinson's disease, arachnoiditis, transverse myelitis, and others.
synonym: "Charcot spinal arthropathy" EXACT []
synonym: "Spinal deformities" EXACT []
synonym: "Spinal neuroarthropathy" EXACT []
xref: SNOMEDCT_US:298380006
xref: UMLS:C0575157
is_a: HP:0000925 ! Abnormality of the vertebral column

[Term]
id: HP:0008444
name: Posterior wedging of vertebral bodies
def: "An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Posterior wedging" EXACT []
xref: UMLS:C1969679
is_a: HP:0008422 ! Vertebral wedging

[Term]
id: HP:0008445
name: Cervical spinal canal stenosis
def: "An abnormal narrowing of the cervical spinal canal." [https://orcid.org/0000-0002-0736-9199]
synonym: "Narrow cervical spinal canal" EXACT []
xref: UMLS:C1844925
is_a: HP:0003416 ! Spinal canal stenosis

[Term]
id: HP:0008447
name: Hypoplastic coccygeal vertebrae
xref: UMLS:C2751480
is_a: HP:0008417 ! Vertebral hypoplasia

[Term]
id: HP:0008449
name: Progressive cervical vertebral spine fusion
xref: UMLS:C1851129
is_a: HP:0002949 ! Fused cervical vertebrae

[Term]
id: HP:0008450
name: Narrow vertebral interpedicular distance
alt_id: HP:0008426
alt_id: HP:0008448
alt_id: HP:0008474
def: "A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Interpedicular narrowing" EXACT []
synonym: "Narrow interpedicular space" EXACT []
synonym: "Narrow interpediculate distances" EXACT []
synonym: "Narrowing of interpediculate distances" EXACT []
xref: UMLS:C1832598
is_a: HP:0008438 ! Vertebral arch anomaly

[Term]
id: HP:0008451
name: Posterior vertebral hypoplasia
xref: UMLS:C1856780
is_a: HP:0008417 ! Vertebral hypoplasia

[Term]
id: HP:0008452
name: Wafer-thin platyspondyly
xref: UMLS:C1865124
is_a: HP:0004565 ! Severe platyspondyly

[Term]
id: HP:0008453
name: Congenital kyphoscoliosis
xref: SNOMEDCT_US:405772002
xref: UMLS:C0345392
is_a: HP:0002751 ! Kyphoscoliosis

[Term]
id: HP:0008454
name: Lumbar kyphosis
alt_id: HP:0008487
def: "Over curvature of the lumbar region." [https://orcid.org/0000-0002-0736-9199]
synonym: "Lumbar gibbus deformity" EXACT []
synonym: "Rounded lower back" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1844818
is_a: HP:0100712 ! Abnormal lumbar spine morphology

[Term]
id: HP:0008455
name: Dysplastic sacrum
def: "A developmental defect of the sacrum characterized by partial or disordered development of the sacrum in which portions of the sacrum, which normally is formed by fusion of five sacral vertebrae S1-S5, fail to form or fail to form normally." []
synonym: "Absence of some of the sacral and coccygeal bones" EXACT layperson []
synonym: "Partial sacral agenesis" EXACT []
synonym: "Sacral dysgenesis" EXACT []
xref: UMLS:C1851305
is_a: HP:0005107 ! Abnormal sacrum morphology

[Term]
id: HP:0008456
name: C2-C3 subluxation
def: "A partial dislocation of the intervertebral joint between the second and third cervical vertebrae." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C2678323
is_a: HP:0003308 ! Cervical subluxation

[Term]
id: HP:0008457
name: Caudal interpedicular narrowing
def: "Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Caudal narrowing of interpedicular distances" EXACT []
xref: UMLS:C1863734
is_a: HP:0008450 ! Narrow vertebral interpedicular distance

[Term]
id: HP:0008458
name: Progressive congenital scoliosis
def: "A progressive form of scoliosis with congenital onset." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1857025
is_a: HP:0002650 ! Scoliosis

[Term]
id: HP:0008459
name: Cervical vertebral agenesis
def: "Agenesis of one or more vertebrae of the cervical vertebral column." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cervical vertebrae agenesis" EXACT []
synonym: "Missing cervical vertebrae" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:91880006
xref: UMLS:C0432160
is_a: HP:0011041 ! Aplasia/Hypoplasia of the cervical spine

[Term]
id: HP:0008460
name: Hypoplastic spinal processes
synonym: "Underdeveloped spinal processes" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4024674
is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column

[Term]
id: HP:0008461
name: Cervical vertebral facet hypoplasia
xref: UMLS:C4024673
is_a: HP:0011041 ! Aplasia/Hypoplasia of the cervical spine

[Term]
id: HP:0008462
name: Cervical instability
xref: UMLS:C1863314
is_a: HP:0005881 ! Spinal instability

[Term]
id: HP:0008463
name: Central vertebral hypoplasia
xref: UMLS:C4024672
is_a: HP:0008417 ! Vertebral hypoplasia

[Term]
id: HP:0008464
name: Absent spinous processes of lower thoracic and lumbar vertebrae
xref: UMLS:C4024671
is_a: HP:0008516 ! Abnormality of the vertebral spinous processes

[Term]
id: HP:0008465
name: Absent vertebra
def: "A developmental defect characterized by agenesis of one or more vertebral bodies." [PMID:26167231]
synonym: "Absent vertebrae" EXACT layperson []
xref: SNOMEDCT_US:15843004
xref: UMLS:C0158776
is_a: HP:0008515 ! Aplasia/Hypoplasia of the vertebrae

[Term]
id: HP:0008467
name: Thoracic hemivertebrae
alt_id: HP:0004604
def: "Absence of one half of the vertebral body in the thoracic spine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Midthoracic hemivertebrae" NARROW []
xref: SNOMEDCT_US:95304000
xref: UMLS:C0432152
xref: UMLS:C4020799
is_a: HP:0002937 ! Hemivertebrae

[Term]
id: HP:0008468
name: Abnormal sacral segmentation
def: "An abnormality related to a defect of vertebral separation of sacral vertebrae during development." []
xref: UMLS:C1968942
is_a: HP:0008490 ! Sacral segmentation defect

[Term]
id: HP:0008469
name: Cervical vertebral dysplasia
def: "Dysplasia of the cervical vertebral column." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1861693
is_a: HP:0046508 ! Abnormal cervical spine morphology

[Term]
id: HP:0008470
name: Lower thoracic interpediculate narrowness
def: "A reduction of the distance between the lower thoracic vertebral pedicles." [https://orcid.org/0000-0002-0736-9199]
synonym: "Narrowness of interpediculate distances in lower thoracic regions" EXACT []
xref: UMLS:C1854940
is_a: HP:0008450 ! Narrow vertebral interpedicular distance

[Term]
id: HP:0008472
name: Prominent protruding coccyx
synonym: "Large tailbone" BROAD layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Prominent protruding tailbone" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1850044
xref: UMLS:C4280412
is_a: HP:0040016 ! Prominent coccyx
is_a: HP:0040017 ! Protruding coccyx

[Term]
id: HP:0008473
name: Narrow anterio-posterior vertebral body diameter
alt_id: HP:0005732
def: "An abnormal reduction of the anterioposterior diameter of the vertebral body." [https://orcid.org/0000-0002-0736-9199]
synonym: "Reduced anterior-posterior diameter of vertebral bodies" EXACT []
synonym: "Reduced sagittal diameter of vertebrae" EXACT []
xref: UMLS:C4021540
is_a: HP:0008479 ! Hypoplastic vertebral bodies

[Term]
id: HP:0008475
name: Hypoplastic sacral vertebrae
xref: UMLS:C2751479
is_a: HP:0004590 ! Hypoplastic sacrum
is_a: HP:0008417 ! Vertebral hypoplasia

[Term]
id: HP:0008476
name: Irregular sclerotic endplates
alt_id: HP:0004624
synonym: "irregular, dense end plate" EXACT []
xref: UMLS:C1868554
is_a: HP:0003301 ! Irregular vertebral endplates

[Term]
id: HP:0008477
name: Poorly ossified cervical vertebrae
def: "Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024670
is_a: HP:0100856 ! Poorly ossified vertebrae

[Term]
id: HP:0008478
name: Scheuermann-like vertebral changes
xref: UMLS:C1844926
is_a: HP:0010891 ! Morbus Scheuermann

[Term]
id: HP:0008479
name: Hypoplastic vertebral bodies
alt_id: HP:0002773
synonym: "Small vertebrae" EXACT []
synonym: "Small vertebral bodies" EXACT []
synonym: "Underdeveloped back bones" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1863353
is_a: HP:0003312 ! Abnormal form of the vertebral bodies
is_a: HP:0008417 ! Vertebral hypoplasia

[Term]
id: HP:0008480
name: Cervical spondylosis
alt_id: HP:0025266
def: "Arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column." [https://orcid.org/0000-0002-0736-9199]
comment: When osteoarthritis affects the spine, it is known as spondylosis.
synonym: "Cervical osteoarthritis" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Cervical spine degeneration" EXACT layperson []
synonym: "Neck arthritis" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:387800004
xref: SNOMEDCT_US:387801000
xref: UMLS:C0263854
xref: UMLS:C1384641
is_a: HP:0046508 ! Abnormal cervical spine morphology

[Term]
id: HP:0008482
name: Asymmetry of spinal facet joints
xref: UMLS:C4024669
is_a: HP:0030870 ! Abnormality of spinal facet joint

[Term]
id: HP:0008483
name: Cervical vertebral bodies with decreased anteroposterior diameter
xref: UMLS:C1847393
is_a: HP:0003319 ! Abnormality of the cervical spine

[Term]
id: HP:0008484
name: Thoracolumbar interpediculate narrowness
def: "A reduction of the distance between thoracolumbar vertebral pedicles." [https://orcid.org/0000-0002-0736-9199]
synonym: "Narrow thoracolumbar interpediculate distance" EXACT []
xref: UMLS:C1864364
is_a: HP:0008450 ! Narrow vertebral interpedicular distance

[Term]
id: HP:0008486
name: Lumbar interpedicular narrowing
def: "Narrowing (becoming gradually narrower) of the distance between lumbar vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreasing lumbar vertebrae interpediculate distance" EXACT []
xref: UMLS:C1849079
is_a: HP:0008457 ! Caudal interpedicular narrowing

[Term]
id: HP:0008488
name: Anterior rounding of vertebral bodies
xref: UMLS:C1850043
is_a: HP:0003300 ! Ovoid vertebral bodies

[Term]
id: HP:0008489
name: Spondylolisthesis at L5-S1
alt_id: HP:0005779
def: "Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Spondylolysis and spondylolisthesis of l5" EXACT []
xref: UMLS:C3275799
is_a: HP:0003302 ! Spondylolisthesis

[Term]
id: HP:0008490
name: Sacral segmentation defect
xref: UMLS:C1850329
is_a: HP:0003422 ! Vertebral segmentation defect
is_a: HP:0005107 ! Abnormal sacrum morphology

[Term]
id: HP:0008491
name: Premature anterior fontanel closure
def: "Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024668
is_a: HP:0000236 ! Abnormal anterior fontanelle morphology

[Term]
id: HP:0008494
name: Inferior lens subluxation
def: "Partial displacement of the lens in the inferior direction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Inferior subluxated lens" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C2036842
is_a: HP:0001132 ! Lens subluxation

[Term]
id: HP:0008496
name: Multiple rows of eyelashes
synonym: "Double row of eyelashes" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Extra rows of eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Multiple rows of eyelashes" EXACT layperson []
synonym: "Two rows of eyelashes" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:95339000
xref: UMLS:C0423848
xref: UMLS:C3550336
is_a: HP:0000499 ! Abnormal eyelash morphology

[Term]
id: HP:0008497
name: Congenital craniofacial dysostosis
xref: UMLS:C4024667
is_a: HP:0004439 ! Craniofacial dysostosis

[Term]
id: HP:0008498
name: obsolete No permanent dentition
is_obsolete: true
replaced_by: HP:0006349

[Term]
id: HP:0008499
name: High hypermetropia
def: "A severe form of hypermetropia with over +5.00 diopters." [HPO_CONTRIBUTOR:DDD_ncarter, https://orcid.org/0000-0003-0986-4123]
synonym: "High hyperopia" EXACT []
synonym: "High-grade hypermetropia" EXACT []
synonym: "Severe farsightedness" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Severe long-sightedness" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4024665
is_a: HP:0000540 ! Hypermetropia

[Term]
id: HP:0008501
name: obsolete Median cleft lip and palate
is_obsolete: true
replaced_by: HP:0009099

[Term]
id: HP:0008504
name: Moderate sensorineural hearing impairment
def: "The presence of a moderate form of sensorineural hearing impairment." [https://orcid.org/0000-0002-0736-9199]
synonym: "Moderate neural deafness" RELATED []
xref: UMLS:C4020798
xref: UMLS:C4024664
is_a: HP:0000407 ! Sensorineural hearing impairment
is_a: HP:0012713 ! Moderate hearing impairment

[Term]
id: HP:0008507
name: Static ophthalmoparesis
xref: UMLS:C4024663
is_a: HP:0000597 ! Ophthalmoparesis

[Term]
id: HP:0008509
name: Aged leonine appearance
xref: UMLS:C3550331
is_a: HP:0007495 ! Prematurely aged appearance

[Term]
id: HP:0008511
name: Central posterior corneal opacity
def: "Reduced transparency of the central posterior portion of the corneal stroma." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:246967007
xref: UMLS:C0423260
is_a: HP:0011493 ! Central opacification of the cornea

[Term]
id: HP:0008513
name: Bilateral conductive hearing impairment
alt_id: HP:0008536
def: "A bilateral type of conductive hearing impairment." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bilateral conductive deafness" EXACT []
synonym: "Bilateral conductive hearing loss" EXACT []
xref: SNOMEDCT_US:194417009
xref: UMLS:C0452136
is_a: HP:0000405 ! Conductive hearing impairment

[Term]
id: HP:0008515
name: Aplasia/Hypoplasia of the vertebrae
synonym: "Absent/small vertebrae" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped vertebrae" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024662
is_a: HP:0003468 ! Abnormal vertebral morphology
is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-04T02:30:00Z

[Term]
id: HP:0008516
name: Abnormality of the vertebral spinous processes
xref: UMLS:C4024661
is_a: HP:0003312 ! Abnormal form of the vertebral bodies
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-04T02:31:00Z

[Term]
id: HP:0008517
name: Aplasia/Hypoplasia of the sacrum
def: "Aplasia or developmental hypoplasia of the sacral bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small sacrum" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped sacrum" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024660
is_a: HP:0005107 ! Abnormal sacrum morphology
is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-04T02:32:00Z

[Term]
id: HP:0008518
name: Aplasia/Hypoplasia involving the vertebral column
synonym: "Absent/small backbone" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Absent/small spine" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Absent/small vertebral column" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped backbone" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Absent/underdeveloped spine" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Absent/underdeveloped vertebral column" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024659
is_a: HP:0000925 ! Abnormality of the vertebral column
is_a: HP:0009122 ! Aplasia/hypoplasia affecting bones of the axial skeleton
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-04T02:33:00Z

[Term]
id: HP:0008519
name: Abnormal coccyx morphology
alt_id: HP:0002830
def: "Any structural abnormality of the coccyx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal tailbone" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Abnormality of the coccyx" EXACT []
xref: UMLS:C4024658
is_a: HP:0000925 ! Abnormality of the vertebral column
is_a: HP:0002644 ! Abnormal pelvic girdle bone morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-04T02:41:00Z

[Term]
id: HP:0008523
name: Posterior helix pit
def: "Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated." [PMID:19152421]
comment: They are usually linear to a narrow oval in shape and may be single or multiple.
subset: hposlim_core
synonym: "Ear, posterior helical groove" EXACT []
synonym: "Ear, posterior helical notch" EXACT []
synonym: "Helix, posterior pit" EXACT []
synonym: "Indentation in back of outer ear" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Pits in posterior aspect of ear helices" EXACT []
xref: UMLS:C4021539
is_a: HP:0011039 ! Abnormal helix morphology

[Term]
id: HP:0008527
name: Congenital sensorineural hearing impairment
alt_id: HP:0004455
alt_id: HP:0004457
alt_id: HP:0008520
alt_id: HP:0008521
alt_id: HP:0008540
alt_id: HP:0008543
alt_id: HP:0008545
alt_id: HP:0008546
alt_id: HP:0008556
alt_id: HP:0008558
alt_id: HP:0008561
alt_id: HP:0008571
alt_id: HP:0008603
alt_id: HP:0008612
alt_id: HP:0008620
def: "A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bilateral congenital sensorineural deafness" EXACT []
synonym: "Congenital neurosensory deafness" EXACT []
synonym: "Congenital perceptive deafness" EXACT []
synonym: "Congenital sensorineural deafness" EXACT []
synonym: "Congenital sensorineural hearing loss" EXACT []
synonym: "Hearing loss, congenital sensorineural" EXACT []
xref: SNOMEDCT_US:700453005
xref: UMLS:C1865866
is_a: HP:0000407 ! Sensorineural hearing impairment

[Term]
id: HP:0008528
name: Long hairs growing from helix of pinna
synonym: "Ear hair" BROAD layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Long hairs growing from helix of ear" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:27394002
xref: UMLS:C0222050
xref: UMLS:C4024657
is_a: HP:0011039 ! Abnormal helix morphology

[Term]
id: HP:0008529
name: Absence of acoustic reflex
alt_id: HP:0008595
def: "Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli." [https://orcid.org/0000-0002-0736-9199]
comment: Note that the acoustic reflex is also referred to as stapedius reflex, attenuation reflex, or auditory reflex.
synonym: "Absence of acoustic middle ear muscle reflexes" EXACT []
synonym: "Absent middle ear reflexes" EXACT []
synonym: "Absent stapedius reflexes" EXACT []
xref: UMLS:C1832834
is_a: HP:0040121 ! Abnormality of the acoustic reflex

[Term]
id: HP:0008537
name: Cleft at the superior portion of the pinna
comment: This term is used for Auriculocondylar syndrome (MIM:602483). Not clear if there is a clean delineation against cleft helix.
synonym: "Cleft at the superior portion of the ear" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1865302
is_a: HP:0009902 ! Cleft helix

[Term]
id: HP:0008541
name: Superiorly displaced ears
synonym: "High set ears" RELATED layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1850190
is_a: HP:0000357 ! Abnormal location of ears

[Term]
id: HP:0008542
name: Low-frequency hearing loss
def: "A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Low-frequency hearing loss" EXACT layperson []
xref: SNOMEDCT_US:42538001
xref: UMLS:C0271514
is_a: HP:0000365 ! Hearing impairment

[Term]
id: HP:0008544
name: Abnormally folded helix
def: "Any structural anomaly of the border of the helix, which usually forms a rolled rim but is highly variable in shape." [PMID:19152421]
xref: UMLS:C1970777
is_a: HP:0011039 ! Abnormal helix morphology

[Term]
id: HP:0008551
name: Microtia
alt_id: HP:0000393
alt_id: HP:0000409
alt_id: HP:0008550
alt_id: HP:0008618
alt_id: HP:0008621
def: "Underdevelopment of the external ear." [https://orcid.org/0000-0002-0736-9199, PMID:19152421, PMID:3270622]
comment: The definitions of microtia follow a widely used, surgically based, classification of ear anomalies outlined by Weerda 1988. As microtia indicates at least both decreased length and width, and in more severe forms it includes abnormal shape of structures, all forms are acknowledged to be bundled terms, but are retained here because they are well established.
subset: hposlim_core
synonym: "Bilateral microtia" EXACT []
synonym: "Hypoplasia of the external ear" EXACT []
synonym: "Hypoplastic ears" EXACT []
synonym: "Hypoplastic pinna" EXACT []
synonym: "Small ears" EXACT layperson []
synonym: "Small pinnae" EXACT []
synonym: "Underdeveloped ears" EXACT layperson []
xref: SNOMEDCT_US:35045004
xref: UMLS:C0152423
is_a: HP:0008772 ! Aplasia/Hypoplasia of the external ear

[Term]
id: HP:0008554
name: Cochlear malformation
def: "The presence of a malformed cochlea." [https://orcid.org/0000-0002-0736-9199]
comment: A cochlear malformation may include a membranous abnormality, a bony abnormality, or a combination of the two.
xref: UMLS:C1862050
is_a: HP:0000375 ! Abnormal cochlea morphology

[Term]
id: HP:0008555
name: Absent vestibular function
def: "Complete lack of functioning of the vestibular apparatus." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024656
is_a: HP:0001756 ! Vestibular hyporeflexia

[Term]
id: HP:0008559
name: Hypoplastic superior helix
alt_id: HP:0008627
synonym: "Underdeveloped superior helices" EXACT []
xref: UMLS:C1865305
is_a: HP:0008589 ! Hypoplastic helices

[Term]
id: HP:0008568
name: Vestibular areflexia
alt_id: HP:0008526
def: "Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography." [https://orcid.org/0000-0002-0736-9199, PMID:26918204]
synonym: "Vestibular ataxia" RELATED []
xref: SNOMEDCT_US:22443004
xref: UMLS:C0235927
xref: UMLS:C4015052
is_a: HP:0007670 ! Abnormal vestibulo-ocular reflex

[Term]
id: HP:0008569
name: Microtia, second degree
def: "Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear." [eom:ae27d9699faef13a, PMID:19152421]
synonym: "Cockleshell ear" RELATED layperson []
synonym: "Constricted helix type IV" RELATED []
synonym: "Ear, grade II dysplasia" RELATED []
synonym: "Mini ear" RELATED layperson []
synonym: "Severe cupped ear, type III" RELATED []
synonym: "Shell ear" RELATED layperson []
synonym: "Snail ear" RELATED layperson []
xref: UMLS:C4020694
xref: UMLS:C4020792
xref: UMLS:C4020793
xref: UMLS:C4020794
xref: UMLS:C4020795
xref: UMLS:C4020796
xref: UMLS:C4020797
is_a: HP:0008551 ! Microtia

[Term]
id: HP:0008572
name: obsolete External ear malformation
is_obsolete: true
replaced_by: HP:0000377

[Term]
id: HP:0008573
name: Low-frequency sensorineural hearing impairment
def: "A form of sensorineural hearing impairment that affects primarily the lower frequencies." [https://orcid.org/0000-0002-0736-9199]
synonym: "Low-frequency sensorineural hearing loss" EXACT []
xref: UMLS:C3810445
is_a: HP:0000407 ! Sensorineural hearing impairment

[Term]
id: HP:0008577
name: Underfolded helix
def: "Underdevelopment of the helix that either affects the entire helix, or is localized." [PMID:19152421]
comment: Helix folding is highly variable, and the range is illustrated in Figures 29 and 30. To use this term, the affected area must be too long to be considered a Cleft helix. Underdevelopment of part of the helix can lead to the impression that the scaphal area is enlarged.
synonym: "Poorly folded helices" EXACT []
xref: UMLS:C1849735
is_a: HP:0008544 ! Abnormally folded helix

[Term]
id: HP:0008583
name: Underfolded superior helices
def: "A condition in which the superior portion of the helix is folded over to a lesser degree than normal." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024655
is_a: HP:0008577 ! Underfolded helix

[Term]
id: HP:0008586
name: Hypoplasia of the cochlea
def: "Developmental hypoplasia of the cochlea." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic cochlea" EXACT []
synonym: "Underdeveloped cochlea" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C2676974
is_a: HP:0011395 ! Aplasia/Hypoplasia of the cochlea

[Term]
id: HP:0008587
name: Mild neurosensory hearing impairment
def: "The presence of a mild form of sensorineural hearing impairment." [https://orcid.org/0000-0002-0736-9199]
comment: A neurosensory hearing loss with a deficit of 21-40 dB.
synonym: "Mild neurosensory hearing loss" EXACT []
xref: UMLS:C4021538
is_a: HP:0000407 ! Sensorineural hearing impairment
is_a: HP:0012712 ! Mild hearing impairment

[Term]
id: HP:0008588
name: Slit-like opening of the exterior auditory meatus
def: "A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit." [PMID:12843316]
xref: UMLS:C1846459
is_a: HP:0000402 ! Stenosis of the external auditory canal

[Term]
id: HP:0008589
name: Hypoplastic helices
def: "Underdevelopment of the helix, i.e., of the outer rim of the pinna." [https://orcid.org/0000-0002-0736-9199]
synonym: "Underdeveloped helices" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1842681
is_a: HP:0011039 ! Abnormal helix morphology

[Term]
id: HP:0008591
name: Congenital conductive hearing impairment
alt_id: HP:0008525
def: "A type of conductive deafness with congenital onset." [https://orcid.org/0000-0002-0736-9199]
synonym: "Congenital conductive deafness" EXACT []
synonym: "Congenital conductive hearing loss" EXACT []
xref: UMLS:C4021537
is_a: HP:0000405 ! Conductive hearing impairment

[Term]
id: HP:0008593
name: Prominent antitragus
def: "Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix." [https://orcid.org/0000-0002-0736-9199, PMID:19152421]
synonym: "Enlarged antitragus" EXACT []
synonym: "Hyperplastic antitragus" EXACT []
synonym: "Hypertrophic antitragus" EXACT []
xref: UMLS:C1968811
is_a: HP:0009896 ! Abnormal antitragus morphology

[Term]
id: HP:0008596
name: Postlingual sensorineural hearing impairment
def: "A form of sensorineural hearing impairment with onset after the acquisition of speech." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024654
is_a: HP:0011474 ! Childhood onset sensorineural hearing impairment

[Term]
id: HP:0008598
name: Mild conductive hearing impairment
def: "A mild form of conductive hearing impairment." [https://orcid.org/0000-0002-0736-9199]
comment: Conductive hearing impairment with 21-40 dB deficit.
synonym: "Conductive hearing loss, mild" EXACT []
xref: UMLS:C4021536
is_a: HP:0000405 ! Conductive hearing impairment
is_a: HP:0012712 ! Mild hearing impairment

[Term]
id: HP:0008605
name: Unilateral external ear deformity
synonym: "Deformed external ear on one side" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1834043
is_a: HP:0000377 ! Abnormal pinna morphology

[Term]
id: HP:0008606
name: Supraauricular pit
def: "Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit." [https://orcid.org/0009-0006-4530-3154]
synonym: "Pit above the ear" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Supraauricular fistula" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Supraauricular sinus" EXACT []
synonym: "Supraauricular sinuses" EXACT []
xref: UMLS:C1862059
is_a: HP:0100277 ! Periauricular skin pits

[Term]
id: HP:0008607
name: Progressive conductive hearing impairment
def: "A progressive type of conductive deafness." [https://orcid.org/0000-0002-0736-9199]
synonym: "Progressive conductive deafness" EXACT []
xref: UMLS:C1861325
is_a: HP:0000405 ! Conductive hearing impairment

[Term]
id: HP:0008608
name: Hypertrophic auricular cartilage
xref: UMLS:C1857263
is_a: HP:0000377 ! Abnormal pinna morphology

[Term]
id: HP:0008609
name: Abnormal middle ear morphology
def: "An abnormality of the morphology or structure of the middle ear." [HPO_CONTRIBUTOR:DDD_mbitner-glidicz]
synonym: "Middle ear malformation" EXACT layperson []
synonym: "Morphological abnormality of the middle ear" EXACT layperson []
xref: UMLS:C1857456
is_a: HP:0000370 ! Abnormality of the middle ear

[Term]
id: HP:0008610
name: Infantile sensorineural hearing impairment
def: "A form of sensorineural hearing impairment with infantile onset." [https://orcid.org/0000-0002-0736-9199]
synonym: "Infantile sensorineural hearing loss" EXACT []
xref: UMLS:C4021535
is_a: HP:0011474 ! Childhood onset sensorineural hearing impairment

[Term]
id: HP:0008615
name: Adult onset sensorineural hearing impairment
alt_id: HP:0008532
alt_id: HP:0008599
def: "The presence of sensorineural deafness with late onset." [https://orcid.org/0000-0002-0736-9199]
synonym: "Late sensorineural hearing loss" EXACT []
synonym: "Sensorineural deafness, late-onset" EXACT []
xref: UMLS:C4021534
is_a: HP:0000407 ! Sensorineural hearing impairment

[Term]
id: HP:0008619
name: Bilateral sensorineural hearing impairment
alt_id: HP:0008530
alt_id: HP:0008539
alt_id: HP:0008579
alt_id: HP:0008585
def: "A form of sensorineural hearing impairment that affects both ears." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bilateral nerve deafness" EXACT []
synonym: "Bilateral sensorineural deafness" EXACT []
synonym: "Bilateral sensorineural hearing loss" EXACT []
synonym: "Hearing loss, sensorineural, bilateral" EXACT []
xref: SNOMEDCT_US:194424005
xref: UMLS:C0452138
is_a: HP:0000407 ! Sensorineural hearing impairment

[Term]
id: HP:0008625
name: Severe sensorineural hearing impairment
alt_id: HP:0008534
alt_id: HP:0008574
def: "A severe form of sensorineural hearing impairment." [https://orcid.org/0000-0002-0736-9199]
synonym: "Severe sensorineural deafness" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Severe sensorineural hearing loss" EXACT []
xref: UMLS:C4021533
is_a: HP:0000407 ! Sensorineural hearing impairment
is_a: HP:0012714 ! Severe hearing impairment

[Term]
id: HP:0008628
name: Abnormal stapes morphology
def: "An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear." [https://orcid.org/0000-0002-0736-9199]
synonym: "Stapedial abnormalities" EXACT []
xref: UMLS:C4021532
is_a: HP:0004452 ! Abnormality of the middle ear ossicles

[Term]
id: HP:0008629
name: Pulsatile tinnitus
alt_id: HP:0000361
def: "Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation." [PMID:23885280]
comment: Pulsatile tinnitus may be associated with vascular abnormalities such as arterioevenous shunts or glomus tumors or the jugular vein, arterial bruits related to a high-riding carotid artery (close to the auditory areas) or carotid stenosis, or venous abnormalities such as a dehiscent jugular bulb or to hypertension. Finally, in some patients, mechanical abnormalities such patulous eustachian tubes, palatomyoclonus (small spasms of muscles in the soft palate area), or idiopathic stapedial muscle spasm may represent the underlying cause of pulsatile tinnitus.
xref: SNOMEDCT_US:232322006
xref: UMLS:C0751559
is_a: HP:0000360 ! Tinnitus

[Term]
id: HP:0008631
name: Ureteral dysgenesis
def: "A developmental anomaly of the ureter." [https://orcid.org/0000-0002-0736-9199]
comment: If possible, a more specific term describing the precise type of ureteral dysgenesis should be chosen.
xref: UMLS:C4024653
is_a: HP:0025633 ! Abnormal ureter morphology

[Term]
id: HP:0008633
name: Agonadism
def: "Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females)." []
comment: Gonadal agenesis refers to the lack of development of gonads during fetal development; it may not be possible clinically to determine if gonal tissue was present at any point of development. For this reason, we regard agonadism and gonadal agenesis as synonymous.
synonym: "Absent gonadal tissue" EXACT []
synonym: "Gonadal agenesis" EXACT []
xref: UMLS:C4024652
is_a: HP:0000812 ! Abnormal internal genitalia

[Term]
id: HP:0008635
name: Urinary bladder wall hypertrophy
def: "Increase in thickness of the wall of the urinary bladder. This finding may be seen in conditions such as bladder outlet obstruction and may be accompanied by increased trabeculation of the bladder wall musculature." [https://orcid.org/0000-0002-0736-9199, PMID:11002301]
synonym: "Hypertrophic urinary bladder" EXACT []
synonym: "Hypertrophy of the urinary bladder wall" EXACT []
synonym: "Urinary bladder wall thickening" EXACT []
xref: UMLS:C4021531
is_a: HP:0025487 ! Abnormal bladder morphology

[Term]
id: HP:0008636
name: obsolete Lobular glomerulopathy
is_obsolete: true
replaced_by: HP:0100820

[Term]
id: HP:0008639
name: Gonadal hypoplasia
synonym: "Underdeveloped gonad" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C0239761
is_a: HP:0000812 ! Abnormal internal genitalia

[Term]
id: HP:0008640
name: Congenital macroorchidism
xref: UMLS:C4024650
is_a: HP:0000053 ! Macroorchidism

[Term]
id: HP:0008643
name: Nephroblastomatosis
def: "Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood." [https://orcid.org/0000-0002-0736-9199, PMID:10707720]
xref: UMLS:C2675558
is_a: HP:0011794 ! Embryonal renal neoplasm

[Term]
id: HP:0008647
name: Pubertal developmental failure in females
xref: UMLS:C4024649
is_a: HP:0008197 ! Absence of pubertal development

[Term]
id: HP:0008648
name: obsolete Anteriorly displaced urethral meatus
is_obsolete: true
replaced_by: HP:0100627

[Term]
id: HP:0008651
name: Uric acid urolithiasis independent of gout
xref: UMLS:C4024647
is_a: HP:0000791 ! Uric acid nephrolithiasis

[Term]
id: HP:0008652
name: Autonomic erectile dysfunction
def: "Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system." [https://orcid.org/0000-0002-0736-9199]
synonym: "Impotence due to autonomic dysfunction" EXACT []
xref: UMLS:C1868524
is_a: HP:0012332 ! Abnormal autonomic nervous system physiology
is_a: HP:0100639 ! Erectile dysfunction

[Term]
id: HP:0008653
name: Crescentic glomerulonephritis
def: "A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation." [HPO_CONTRIBUTOR:Eurenomics_ewuehl]
xref: SNOMEDCT_US:236398000
xref: UMLS:C0403416
is_a: HP:0000099 ! Glomerulonephritis

[Term]
id: HP:0008655
name: Aplasia/Hypoplasia of the fallopian tube
def: "Aplasia or developmental hypoplasia of the fallopian tube." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent or rudimentary fallopian tubes" RELATED []
synonym: "Absent/small fallopian tube" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped fallopian tube" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4020791
xref: UMLS:C4024646
is_a: HP:0011027 ! Abnormal fallopian tube morphology

[Term]
id: HP:0008656
name: Incomplete male pseudohermaphroditism
xref: UMLS:C4024645
is_a: HP:0000037 ! Male pseudohermaphroditism

[Term]
id: HP:0008659
name: Multiple small medullary renal cysts
alt_id: HP:0005569
alt_id: HP:0100956
def: "The presence of many cysts in the medulla of the kidney." [HPO_CONTRIBUTOR:Eurenomics_ewuehl]
comment: This feature is the cardinal sign of medullary cystic disease, also known as medullary sponge disease.
synonym: "Medullary cystic disease" RELATED []
synonym: "Medullary sponge kidney disease" RELATED []
xref: SNOMEDCT_US:204958008
xref: UMLS:C0687120
xref: UMLS:C4020790
xref: UMLS:C4024644
is_a: HP:0000107 ! Renal cyst
is_a: HP:0100957 ! Abnormal renal medulla morphology

[Term]
id: HP:0008660
name: Renotubular dysgenesis
def: "A developmental defect characterized by absence or poor development of proximal renal tubules." [https://orcid.org/0000-0002-0736-9199]
comment: Renotubular dysgenesis is generally accompanied by early onset and persistent oligohydramnios that leads to the Potter sequence.
synonym: "Renal tubular dysgenesis" EXACT []
xref: SNOMEDCT_US:702397002
xref: UMLS:C0266313
is_a: HP:0000091 ! Abnormal renal tubule morphology

[Term]
id: HP:0008661
name: Urethral stenosis
def: "Abnormal narrowing of the urethra." [https://orcid.org/0000-0002-0736-9199]
synonym: "Narrowing of the urethra" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:236647003
xref: SNOMEDCT_US:76618002
xref: UMLS:C0041974
is_a: HP:0000796 ! Urethral obstruction

[Term]
id: HP:0008663
name: Renal sarcoma
def: "A sarcoma of the kidney." [https://orcid.org/0000-0002-0736-9199]
xref: NCIT:C3158
xref: SNOMEDCT_US:254918001
xref: UMLS:C0346251
is_a: HP:0009726 ! Renal neoplasm
is_a: HP:0100242 ! Sarcoma

[Term]
id: HP:0008664
name: Urethral sphincter sclerosis
xref: UMLS:C4024643
is_a: HP:0008661 ! Urethral stenosis

[Term]
id: HP:0008665
name: Clitoral hypertrophy
alt_id: HP:0000057
alt_id: HP:0008728
def: "Hypertrophy of the clitoris." [https://orcid.org/0000-0002-0736-9199]
comment: Increased size of the clitoris.
synonym: "Clitoral enlargement" EXACT []
synonym: "Clitoromegaly" EXACT []
synonym: "Enlarged clitoris" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Hypertrophic clitoris" EXACT []
synonym: "Prominent clitoris" EXACT []
xref: SNOMEDCT_US:80212005
xref: UMLS:C0156394
is_a: HP:0040253 ! Increased size of the clitoris

[Term]
id: HP:0008666
name: Impaired histidine renal tubular absorption
xref: UMLS:C4024642
is_a: HP:0011038 ! Abnormal renal tubular resorption

[Term]
id: HP:0008668
name: Gonadal dysgenesis, male
def: "Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation." [https://orcid.org/0009-0006-4530-3154]
synonym: "46,xy gonadal dysgenesis" EXACT []
xref: UMLS:C0018054
is_a: HP:0000133 ! Gonadal dysgenesis

[Term]
id: HP:0008669
name: Abnormal spermatogenesis
def: "Incomplete maturation or aberrant formation of the male gametes." [https://orcid.org/0000-0002-0736-9199, MP:0001156]
synonym: "Abnormal sperm development" RELATED layperson []
synonym: "Impaired spermatogenesis" EXACT []
xref: SNOMEDCT_US:4529005
xref: UMLS:C0520933
xref: UMLS:C4020789
is_a: HP:0000025 ! Functional abnormality of male internal genitalia

[Term]
id: HP:0008670
name: Partial vaginal septum
xref: UMLS:C0750088
is_a: HP:0001153 ! Septate vagina

[Term]
id: HP:0008672
name: Calcium oxalate nephrolithiasis
alt_id: HP:0008700
alt_id: HP:0008725
def: "The presence of calcium- and oxalate-containing calculi (stones) in the kidneys." [https://orcid.org/0000-0002-0736-9199]
synonym: "Ca oxalate kidney stone" EXACT abbreviation []
synonym: "Ca oxalate nephrolithiasis" EXACT abbreviation []
synonym: "Ca oxalate urolithiasis" EXACT abbreviation []
synonym: "Ca2+ oxalate kidney stone" EXACT abbreviation []
synonym: "Ca2+ oxalate nephrolithiasis" EXACT abbreviation []
synonym: "Ca2+ oxalate urolithiasis" EXACT abbreviation []
synonym: "Calcium oxalate kidney stones" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Calcium oxalate urolithiasis" RELATED []
synonym: "Oxalate nephrolithiasis" EXACT []
xref: SNOMEDCT_US:444717006
xref: UMLS:C1833683
xref: UMLS:C4280806
is_a: HP:0004724 ! Calcium nephrolithiasis

[Term]
id: HP:0008675
name: Enlarged polycystic ovaries
synonym: "Enlarged ovaries with cysts" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C4024641
is_a: HP:0000147 ! Polycystic ovaries
is_a: HP:0100879 ! Enlarged ovaries

[Term]
id: HP:0008676
name: Congenital megaureter
def: "A developmental disturbance with extreme ureteral dilatation." [https://orcid.org/0000-0002-0736-9199]
comment: The cause of congenital megaloureter is thought to be aperistalsis of the distal ureter, leading to dilatation. The defect in peristalsis may be due to faulty development of muscle layers of ureter, that is, there is a functional, not a mechanical cause of obstruction.
synonym: "Congenital megaloureter" EXACT []
synonym: "Primary megaloureter" EXACT []
synonym: "Primary megaureter" EXACT []
xref: SNOMEDCT_US:718485003
xref: SNOMEDCT_US:95576001
xref: UMLS:C0266324
is_a: HP:0000072 ! Hydroureter

[Term]
id: HP:0008677
name: Congenital nephrotic syndrome
def: "Nephrotic syndrome with onset within the first three months of life." [HPO_CONTRIBUTOR:Eurenomics_fschaefer]
synonym: "Congenital nephrosis" EXACT []
xref: SNOMEDCT_US:48796009
xref: UMLS:C3501848
is_a: HP:0000100 ! Nephrotic syndrome

[Term]
id: HP:0008678
name: Renal hypoplasia/aplasia
alt_id: HP:0004744
alt_id: HP:0008701
def: "Absence or underdevelopment of the kidney." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small kidney" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped kidney" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Renal agenesis/hypoplasia" EXACT []
synonym: "Renal aplasia/hypoplasia" EXACT []
xref: UMLS:C1857453
is_a: HP:0012210 ! Abnormal renal morphology

[Term]
id: HP:0008682
name: Renal tubular epithelial necrosis
def: "Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%)." [https://orcid.org/0000-0002-0736-9199]
comment: Renal tubular epithelial necrosis is a histomorphological definition that corresponds to the clinical term of acture tubular necrosis. Acute death of renal tubular cells that usually results from prolonged renal ischemia, nephrotoxins, or sepsis. The clinical course of acute tubular necrosis may be divided into initiation, maintenance, and recovery phases.
synonym: "Acute tubular necrosis" EXACT []
synonym: "Renal tubular necrosis" EXACT []
xref: SNOMEDCT_US:35455006
xref: UMLS:C0022672
is_a: HP:0000091 ! Abnormal renal tubule morphology
is_a: HP:0032618 ! Renal necrosis

[Term]
id: HP:0008683
name: Enlarged labia minora
alt_id: HP:0008662
alt_id: HP:0008694
def: "Increase in size of the folds of skin between the outer labia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypertrophic labia minora" EXACT []
synonym: "Labia minora hypertrophy" EXACT []
xref: UMLS:C1849358
is_a: HP:0000065 ! Labial hypertrophy
is_a: HP:0012880 ! Abnormal labia minora morphology

[Term]
id: HP:0008684
name: Aplasia/hypoplasia of the uterus
def: "Absence or developmental hypoplasia of the uterus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small uterus" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped uterus" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024640
is_a: HP:0000130 ! Abnormality of the uterus

[Term]
id: HP:0008687
name: Hypoplasia of the prostate
synonym: "Hypoplastic prostate" EXACT []
synonym: "Underdeveloped prostate" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1844923
is_a: HP:0008775 ! Abnormal prostate morphology

[Term]
id: HP:0008689
name: Bilateral cryptorchidism
alt_id: HP:0008686
def: "Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cryptorchidism, bilateral" EXACT []
xref: SNOMEDCT_US:268228006
xref: UMLS:C0431663
is_a: HP:0000028 ! Cryptorchidism

[Term]
id: HP:0008691
name: Solitary bladder diverticulum
def: "Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder." [HPO_CONTRIBUTOR:Eurenomics_fschaefer]
xref: UMLS:C4024639
is_a: HP:0000015 ! Bladder diverticulum

[Term]
id: HP:0008694
name: obsolete Hypertrophic labia minora
is_obsolete: true
replaced_by: HP:0008683

[Term]
id: HP:0008695
name: Transient nephrotic syndrome
synonym: "Transient nephrosis" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4024638
is_a: HP:0000100 ! Nephrotic syndrome

[Term]
id: HP:0008696
name: Renal hamartoma
def: "A disordered proliferation of mature tissues that are native to the kidneys." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-9113-2978]
xref: UMLS:C1840396
is_a: HP:0009726 ! Renal neoplasm
is_a: HP:0010566 ! Hamartoma

[Term]
id: HP:0008697
name: Hypoplasia of the fallopian tube
def: "Developmental hypoplasia of the fallopian tube." [https://orcid.org/0000-0002-0736-9199]
synonym: "Rudimentary fallopian tubes" EXACT []
synonym: "Underdeveloped fallopian tube" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1968706
is_a: HP:0008655 ! Aplasia/Hypoplasia of the fallopian tube

[Term]
id: HP:0008702
name: Absent internal genitalia
xref: UMLS:C4024637
is_a: HP:0000812 ! Abnormal internal genitalia

[Term]
id: HP:0008703
name: Gonadal calcification
def: "Deposition of calcium salts in gonadal tissue." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024636
is_a: HP:0000812 ! Abnormal internal genitalia
is_a: HP:0010766 ! Ectopic calcification

[Term]
id: HP:0008705
name: Ureteral triplication
xref: UMLS:C4024635
is_a: HP:0000073 ! Ureteral duplication

[Term]
id: HP:0008706
name: Distal urethral duplication
xref: UMLS:C4024634
is_a: HP:0000795 ! Abnormality of the urethra

[Term]
id: HP:0008707
name: Absent scrotum
def: "Congenital absence of the scrotum." [https://orcid.org/0000-0002-0736-9199]
comment: Both the sac and rugae are absent. This finding may be accompanied by an (Apparently) absent testis and Cryptorchidism, which should be coded separately.
synonym: "Absent scrotum" EXACT layperson []
xref: SNOMEDCT_US:249233008
xref: UMLS:C0426320
is_a: HP:0000045 ! Abnormal scrotum morphology

[Term]
id: HP:0008708
name: Partial development of the penile shaft
def: "A congenital condition of the external male genitalia in which the shaft of the penis fails to fully develop." []
comment: This feature is based on a description in PMID:15273283 for Sudden infant death with dysgenesis of the testes syndrome (OMIM:608800).
xref: UMLS:C1837379
is_a: HP:0000036 ! Abnormal penis morphology

[Term]
id: HP:0008711
name: Benign prostatic hyperplasia
def: "The presence of non-malignant hyperplasia of the prostate." [https://orcid.org/0000-0002-0736-9199]
synonym: "Benign prostatic hypertrophy" EXACT []
xref: SNOMEDCT_US:266569009
xref: UMLS:C0005001
xref: UMLS:C1704272
is_a: HP:0008775 ! Abnormal prostate morphology

[Term]
id: HP:0008714
name: Ureterovesical stenosis
xref: UMLS:C4024633
is_a: HP:0000071 ! Ureteral stenosis

[Term]
id: HP:0008715
name: Testicular dysgenesis
xref: SNOMEDCT_US:253847002
xref: UMLS:C0302885
is_a: HP:0000035 ! Abnormal testis morphology

[Term]
id: HP:0008716
name: Urethrovaginal fistula
def: "The presence of a fistula between the vagina and the urethra." [https://orcid.org/0000-0002-0736-9199]
synonym: "Urethrovaginal fistulae" EXACT []
xref: SNOMEDCT_US:50477003
xref: UMLS:C0269133
is_a: HP:0004320 ! Vaginal fistula
is_a: HP:0010480 ! Urethral fistula

[Term]
id: HP:0008717
name: Unilateral renal atrophy
def: "A unilateral form of atrophy of the kidney." [https://orcid.org/0000-0002-0736-9199]
synonym: "Kidney degeneration on one side" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Unilateral kidney wasting" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:424998002
xref: UMLS:C1827184
is_a: HP:0012585 ! Renal atrophy

[Term]
id: HP:0008718
name: Unilateral renal dysplasia
def: "A unilateral form of developmental dysplasia of the kidney." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:204951002
xref: UMLS:C0431697
is_a: HP:0000110 ! Renal dysplasia

[Term]
id: HP:0008720
name: Primary testicular failure
xref: SNOMEDCT_US:370997001
xref: SNOMEDCT_US:48723006
xref: UMLS:C1384582
is_a: HP:0000035 ! Abnormal testis morphology

[Term]
id: HP:0008722
name: Urethral diverticulum
def: "The presence of a diverticulum (sac or pouch) in the wall of the urethra." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:90531003
xref: UMLS:C0152443
is_a: HP:0000795 ! Abnormality of the urethra

[Term]
id: HP:0008723
name: Gonadal dysgenesis with female appearance, male
def: "Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation." [https://orcid.org/0009-0006-4530-3154]
comment: Very bad term - try to get rid of it later.
synonym: "Xy female gonadal dysgenesis" RELATED []
xref: UMLS:C4020788
xref: UMLS:C4024632
is_a: HP:0000133 ! Gonadal dysgenesis

[Term]
id: HP:0008724
name: Hypoplasia of the ovary
def: "Developmental hypoplasia of the ovary." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic ovary" EXACT []
synonym: "Underdeveloped ovary" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:93279005
xref: UMLS:C0685840
xref: UMLS:C1835452
is_a: HP:0010462 ! Aplasia/Hypoplasia of the ovary

[Term]
id: HP:0008726
name: Hypoplasia of the vagina
alt_id: HP:0011938
def: "Developmental hypoplasia of the vagina." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic vagina" EXACT []
synonym: "Rudimentary vagina" EXACT []
synonym: "Underdeveloped vagina" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:253836009
xref: UMLS:C0345309
xref: UMLS:C1442988
is_a: HP:0011026 ! Aplasia/Hypoplasia of the vagina

[Term]
id: HP:0008729
name: Absence of labia majora
synonym: "Absent vaginal lips" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1849575
is_a: HP:0012881 ! Abnormal labia majora morphology

[Term]
id: HP:0008730
name: Female external genitalia in individual with 46,XY karyotype
alt_id: HP:0008719
def: "The presence of female external genitalia in a person with a male karyotype." [https://orcid.org/0000-0002-0736-9199]
synonym: "Males with female external genitalia" EXACT []
xref: UMLS:C1848178
is_a: HP:0000032 ! Abnormal male external genitalia morphology

[Term]
id: HP:0008732
name: Renal hypophosphatemia
def: "Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion." [PMID:22392950, PMID:30180816]
comment: Three primary mechanisms of hypophosphatemia exist: increased renal excretion, decreased intestinal absorption, and movement of phosphate from the extracellular to intracellular compartments. The initial step in diagnosis involves determining whether hypophosphatemia is renal or nonrenal.
xref: UMLS:C4024631
is_a: HP:0002148 ! Hypophosphatemia

[Term]
id: HP:0008733
name: Dysplastic testes
xref: UMLS:C1837380
is_a: HP:0000035 ! Abnormal testis morphology

[Term]
id: HP:0008734
name: Decreased testicular size
alt_id: HP:0000043
def: "Reduced volume of the testicle (the male gonad)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased testicular size" EXACT layperson []
synonym: "Hypoplastic testes" EXACT []
synonym: "Small testes" EXACT layperson []
synonym: "Small testis" EXACT layperson []
synonym: "Testicular hypoplasia" EXACT []
xref: SNOMEDCT_US:276411001
xref: UMLS:C0241355
is_a: HP:0000050 ! Hypoplastic male external genitalia
is_a: HP:0010468 ! Aplasia/Hypoplasia of the testes

[Term]
id: HP:0008736
name: Hypoplasia of penis
alt_id: HP:0008632
synonym: "Underdeveloped penis" EXACT layperson []
xref: SNOMEDCT_US:34911001
xref: UMLS:C0266435
is_a: HP:0000036 ! Abnormal penis morphology
is_a: HP:0000050 ! Hypoplastic male external genitalia

[Term]
id: HP:0008738
name: Partially duplicated kidney
def: "The presence of a partially duplicated kidney." [https://orcid.org/0000-0002-0736-9199]
synonym: "Partially duplicated kidney" EXACT layperson []
xref: UMLS:C4024630
is_a: HP:0000075 ! Renal duplication

[Term]
id: HP:0008739
name: Labial pseudohypertrophy
xref: UMLS:C1835380
is_a: HP:0000065 ! Labial hypertrophy

[Term]
id: HP:0008740
name: Longitudinal vaginal septum
alt_id: HP:0008698
def: "The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication." [https://orcid.org/0000-0002-0736-9199]
synonym: "Vertical vaginal septum" EXACT []
xref: UMLS:C1841680
is_a: HP:0001153 ! Septate vagina

[Term]
id: HP:0008742
name: Prominent prostate median bar
xref: UMLS:C4024629
is_a: HP:0008775 ! Abnormal prostate morphology

[Term]
id: HP:0008743
name: Coronal hypospadias
def: "A mild form of hypospadias in which the urethra opens just under the corona glandis, that is, where the head of the penis meets the shaft." [https://orcid.org/0000-0002-0736-9199, PMID:28190103]
synonym: "Subcoronal hypospadias" RELATED []
xref: SNOMEDCT_US:429641000124109
xref: UMLS:C1394030
xref: UMLS:C4020787
is_a: HP:0003244 ! Penile hypospadias

[Term]
id: HP:0008744
name: Abnormal aryepiglottic fold morphology
def: "An abnormality of the aryepiglottic fold." [https://orcid.org/0000-0002-0736-9199]
comment: The aryepiglottic fold is a fold of mucous membrane extending on each side between the lateral border of the epiglottis and the summit of the arytenoid cartilage.
synonym: "Abnormal aryepiglottic folds" EXACT []
synonym: "Abnormality of the aryepiglottic fold" EXACT []
xref: UMLS:C1849357
is_a: HP:0025423 ! Abnormal larynx morphology

[Term]
id: HP:0008747
name: Cartilaginous ossification of larynx
def: "Ossification affecting the set of cartilages of larynx." [https://orcid.org/0000-0002-0736-9199]
comment: This term describes abnormal ossification affecting one or more of the cartilages of the larnyx (cricoid cartilage, thyroid cartilage, epiglottic cartilage, arytenoid cartilage, corniculate cartilage, cuneiform cartilage, triticeal cartilage, and sesamoid cartilage).
xref: UMLS:C1855622
is_a: HP:0025423 ! Abnormal larynx morphology

[Term]
id: HP:0008749
name: Laryngeal hypoplasia
alt_id: HP:0005935
def: "Underdevelopment of the larynx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic larynx" EXACT []
xref: SNOMEDCT_US:253736003
xref: UMLS:C0431527
is_a: HP:0025423 ! Abnormal larynx morphology

[Term]
id: HP:0008750
name: Laryngeal atresia
def: "Congenital absence of the lumen of the larynx. Laryngeal atresia is a rare condition. If the laryngeal opening fails to develop, fluid secreted by the lungs cannot be expelled. In a fetus with laryngeal atresia, the lungs are either normal or hyperplastic, not hypoplastic. Mortality is reported as 100%. At obstetric US examination, views of the fetal neck demonstrate a dilated trachea filled with trapped fluid. Views of the fetal chest show enlarged, hyperechoic lungs, with dilated fluid-filled bronchi. Fetal ascites is usually present." [https://orcid.org/0000-0002-0736-9199, PMID:10517457, PMID:17715321]
comment: Laryngeal atresia results from failure of recanalization of the laryngotracheal tube during the third month of gestation. Laryngeal atresia manifests as acute airway obstruction in the newborn immediately following clamping of the umbilical cord and is fatal without immediate airway management with a tracheotomy. Congenital laryngeal atresia is a rare anomaly that is mostly incompatible with life. Most authors claim that this malformation is related to an arrest of the sixth brachial arch at different gestational stages during normal embryologic development. Complete laryngeal atresia results in a desperate emergency during the first few moments of life, and surgical intervention must occur within 2 to 5 minutes of birth to enable respiration. The most dramatic physical finding is that the child is aphonic, with absence of any cry or gasp at birth.
xref: SNOMEDCT_US:64981002
xref: UMLS:C0265756
is_a: HP:0025423 ! Abnormal larynx morphology

[Term]
id: HP:0008751
name: Laryngeal cleft
def: "Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esophagus." [https://orcid.org/0000-0002-0736-9199, PMID:17178945]
comment: Embryologically, the trachea and esophagus share a common lumen until they are separated by the development of the tracheoesophageal septum. Failure of this fusion and incomplete development of the tracheoesophageal septum may lead to congenital abnormalities such as isolatedlaryngeal cleft, tracheoesophageal fistula, and esophageal atresia, depending on the severity of the abnormality. Patients with laryngeal cleft may present with feeding difficulty, chronic cough, stridor, pneumonia or respiratory distress, depending on the size of the cleft.
synonym: "Laryngotracheal cleft" EXACT []
synonym: "Laryngotracheoesophageal cleft i" EXACT []
xref: SNOMEDCT_US:232461002
xref: UMLS:C1840311
is_a: HP:0025423 ! Abnormal larynx morphology

[Term]
id: HP:0008752
name: Laryngeal cartilage malformation
alt_id: HP:0008375
def: "A malformation of the laryngeal cartilage." [https://orcid.org/0000-0002-0736-9199]
synonym: "Vocal impairment, severe, due to laryngeal cartilage abnormalities" EXACT []
xref: UMLS:C4021530
is_a: HP:0025423 ! Abnormal larynx morphology

[Term]
id: HP:0008753
name: Aplasia of the epiglottis
def: "Absence of the epiglottis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent epiglottis" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024628
is_a: HP:0010565 ! Aplasia/Hypoplasia of the Epiglottis

[Term]
id: HP:0008754
name: Laryngeal calcification
alt_id: HP:0008748
def: "Calcification (abnormal deposits of calcium) in the laryngeal tissues." [https://orcid.org/0000-0002-0736-9199]
synonym: "Laryngeal calcifications" EXACT plural_form []
xref: UMLS:C1859158
is_a: HP:0010766 ! Ectopic calcification
is_a: HP:0025423 ! Abnormal larynx morphology

[Term]
id: HP:0008755
name: Laryngotracheomalacia
xref: SNOMEDCT_US:308232009
xref: UMLS:C0585984
is_a: HP:0002779 ! Tracheomalacia

[Term]
id: HP:0008756
name: Bowing of the vocal cords
def: "Bowing (abnormal curvature) of the vocal folds." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:232448002
xref: UMLS:C0396064
is_a: HP:0008777 ! Abnormal vocal cord morphology

[Term]
id: HP:0008757
name: Unilateral vocal cord paralysis
def: "A loss of the ability to move the vocal fold on one side." [https://orcid.org/0000-0002-0736-9199]
synonym: "Unilateral paralysis of the vocal cord" EXACT []
xref: UMLS:C0751575
is_a: HP:0001605 ! Vocal cord paralysis

[Term]
id: HP:0008760
name: Violent behavior
def: "Conduct and/or behavior, both verbal and non-verbal, including but not limited to verbal and/or physical aggression, attacks, threats, harassment, intimidation, and other disruptive behaviors in any form or through any medium, that cause or have the potential to cause a reasonable person to fear physical harm from any individual(s) or group(s) towards any person(s) or property. This is commonly defined as a violent act characterized by the use of physical force, anger, or sudden intense activity." []
synonym: "Violent behavior" EXACT layperson []
synonym: "Violent behaviour" EXACT uk_spelling []
xref: SNOMEDCT_US:248004009
xref: UMLS:C0424323
is_a: HP:0000718 ! Aggressive behavior
property_value: terms:contributor https://orcid.org/0000-0002-1111-7357
property_value: terms:contributor https://orcid.org/0000-0002-7954-5235
property_value: terms:contributor https://orcid.org/0000-0003-2897-0458
property_value: terms:contributor https://orcid.org/0000-0003-4298-5074
property_value: terms:contributor https://orcid.org/0000-0003-4618-6544

[Term]
id: HP:0008762
name: Repetitive compulsive behavior
synonym: "Repetitive compulsive behavior" EXACT layperson []
synonym: "Repetitive compulsive behaviour" EXACT uk_spelling []
xref: UMLS:C1969697
is_a: HP:0031432 ! Restricted or repetitive behaviors or interests

[Term]
id: HP:0008763
name: No social interaction
def: "Lack of intentional participation in interactions with another person." []
synonym: "No social interaction" EXACT layperson []
xref: UMLS:C1849683
is_a: HP:5200024 ! Abnormal relationship
property_value: terms:contributor https://orcid.org/0000-0001-5395-5036
property_value: terms:contributor https://orcid.org/0000-0001-6886-767X
property_value: terms:contributor https://orcid.org/0000-0001-8423-2623
property_value: terms:contributor https://orcid.org/0000-0001-9114-8737
property_value: terms:contributor https://orcid.org/0000-0002-0375-6247
property_value: terms:contributor https://orcid.org/0000-0002-2414-5605
property_value: terms:contributor https://orcid.org/0000-0002-4487-3589

[Term]
id: HP:0008765
name: Auditory hallucination
alt_id: HP:0000714
def: "Perception of sounds without auditory stimulus." []
synonym: "Hallucinations of sound" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Hearing sounds" EXACT layperson []
xref: SNOMEDCT_US:45150006
xref: UMLS:C0233762
is_a: HP:0000738 ! Hallucinations
property_value: terms:contributor https://orcid.org/0000-0001-7062-8192
property_value: terms:contributor https://orcid.org/0000-0001-7941-2961
property_value: terms:contributor https://orcid.org/0000-0001-9221-9226
property_value: terms:contributor https://orcid.org/0000-0002-0183-1637
property_value: terms:contributor https://orcid.org/0000-0003-1785-7126
property_value: terms:contributor https://orcid.org/0000-0003-2291-6952
property_value: terms:contributor https://orcid.org/0000-0003-4958-6025

[Term]
id: HP:0008767
name: Self-mutilation of tongue and lips due to involuntary movements
def: "Uncontrolled movements result in tissue damage to the tongue and lips." []
synonym: "Self-mutilation of tongue and lips due to involuntary movements" EXACT layperson []
xref: UMLS:C1860219
is_a: HP:0000742 ! Self-mutilation
is_a: HP:0004305 ! Involuntary movements
property_value: terms:contributor https://orcid.org/0000-0001-6624-2975
property_value: terms:contributor https://orcid.org/0000-0002-2984-1124
property_value: terms:contributor https://orcid.org/0000-0002-4691-7362
property_value: terms:contributor https://orcid.org/0000-0002-6581-7754
property_value: terms:contributor https://orcid.org/0000-0002-7674-1767
property_value: terms:contributor https://orcid.org/0000-0003-2598-6622
property_value: terms:contributor https://orcid.org/0000-0003-4014-4490

[Term]
id: HP:0008768
name: Abnormal sexual behavior
def: "A deviation of sexual behaviors from the personal norms of the individual in the context of socially and culturally recognized patterns of human sexual behaviors." []
synonym: "Inappropriate sexual behavior" EXACT layperson []
synonym: "Inappropriate sexual behaviour" EXACT uk_spelling []
xref: SNOMEDCT_US:248099006
xref: UMLS:C0474420
is_a: HP:0000708 ! Atypical behavior
property_value: terms:contributor https://orcid.org/0000-0002-1111-7357
property_value: terms:contributor https://orcid.org/0000-0002-7954-5235
property_value: terms:contributor https://orcid.org/0000-0003-2897-0458
property_value: terms:contributor https://orcid.org/0000-0003-4298-5074
property_value: terms:contributor https://orcid.org/0000-0003-4618-6544

[Term]
id: HP:0008770
name: Obsessive-compulsive trait
alt_id: HP:0008761
def: "The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant." [https://orcid.org/0000-0002-0736-9199, PMID:35230863]
comment: Obsessions have been defined as intrusive and unwanted thoughts that are subjectively experienced as unacceptable.
synonym: "Obsessive-compulsive trait" EXACT layperson []
synonym: "Obsessive-compulsive traits" EXACT layperson []
xref: UMLS:C1834433
is_a: HP:0000722 ! Compulsive behaviors

[Term]
id: HP:0008771
name: Aplasia/Hypoplasia of the ear
def: "The presence of aplasia or developmental hypoplasia of the ear." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small ear" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped ear" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024627
is_a: HP:0031703 ! Abnormal ear morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-04T05:44:00Z

[Term]
id: HP:0008772
name: Aplasia/Hypoplasia of the external ear
def: "The presence of aplasia or developmental hypoplasia of all or part of the external ear." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small external ear" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped external ear" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024626
is_a: HP:0000377 ! Abnormal pinna morphology
is_a: HP:0008771 ! Aplasia/Hypoplasia of the ear
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-04T05:45:00Z

[Term]
id: HP:0008773
name: Aplasia/Hypoplasia of the middle ear
alt_id: HP:0008533
alt_id: HP:0008548
def: "Aplasia or developmental hypoplasia of all or part of the middle ear." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small middle ear" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped middle ear" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Hypoplastic/aplastic middle ear structures" EXACT []
synonym: "Middle ear hypoplasia/aplasia" EXACT []
xref: UMLS:C4021529
is_a: HP:0008609 ! Abnormal middle ear morphology
is_a: HP:0008771 ! Aplasia/Hypoplasia of the ear
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-04T05:47:00Z

[Term]
id: HP:0008774
name: Aplasia/Hypoplasia of the inner ear
def: "Aplasia or developmental hypoplasia of the inner ear." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small inner ear" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped inner ear" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024625
is_a: HP:0008771 ! Aplasia/Hypoplasia of the ear
is_a: HP:0011390 ! Abnormal inner ear morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-04T05:48:00Z

[Term]
id: HP:0008775
name: Abnormal prostate morphology
def: "An abnormality of the prostate." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the prostate" EXACT layperson []
xref: UMLS:C0747987
is_a: HP:0000022 ! Abnormal male internal genitalia morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-04T06:01:00Z

[Term]
id: HP:0008776
name: Abnormal renal artery morphology
def: "Any structural abnormality of the renal artery." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal kidney artery" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the renal artery" EXACT []
xref: UMLS:C4024624
is_a: HP:0011004 ! Abnormal systemic arterial morphology
is_a: HP:0033836 ! Abnormal intrarenal artery morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-04T06:13:00Z

[Term]
id: HP:0008777
name: Abnormal vocal cord morphology
def: "An abnormality of the vocal cord." [https://orcid.org/0000-0002-0736-9199]
comment: The vocal cords, also known as the vocal folds, represent a subdivision of the larynx, and consist of twin infoldings of mucous membrane stretched horizontally across the larynx.
synonym: "Abnormality of the vocal cords" EXACT layperson []
xref: UMLS:C0262665
is_a: HP:0025423 ! Abnormal larynx morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-04T06:18:00Z

[Term]
id: HP:0008780
name: Congenital bilateral hip dislocation
xref: SNOMEDCT_US:10155006
xref: UMLS:C0158713
is_a: HP:0001374 ! Congenital hip dislocation

[Term]
id: HP:0008783
name: Wide proximal femoral metaphysis
alt_id: HP:0008790
def: "Increased width of the proximal part of the shaft (metaphysis) of the femur." [https://orcid.org/0000-0002-0736-9199]
synonym: "Wide metaphysis of innermost thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024623
is_a: HP:0006417 ! Wide femoral metaphysis
is_a: HP:0006431 ! Abnormal proximal femoral metaphysis morphology

[Term]
id: HP:0008784
name: Wide capital femoral epiphyses
def: "Abnormally wide morphology of the proximal epiphysis of the femur." [https://orcid.org/0000-0002-0736-9199]
synonym: "Wide end part of innermost thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024622
is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head

[Term]
id: HP:0008785
name: Delayed ossification of pubic rami
def: "Delayed maturation and calcification of the rami (branches) of the pubic bone." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1865363
is_a: HP:0009105 ! Abnormal ossification of the pubic bone

[Term]
id: HP:0008786
name: Iliac crest serration
alt_id: HP:0008825
def: "Irregularities of the iliac crest that produce the appearance of a lace border around it." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular lacy iliac crest" EXACT []
synonym: "Lacy appearance of iliac crest" EXACT []
xref: UMLS:C1857186
is_a: HP:0003796 ! Irregular iliac crest

[Term]
id: HP:0008788
name: Delayed pubic bone ossification
alt_id: HP:0008795
alt_id: HP:0008827
def: "Delayed maturation and calcification of the pubic bone." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Absent pubic ossification in infancy" EXACT []
synonym: "Delayed maturation of pubic bone" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Delayed mineralization of pubic bone" RELATED layperson []
xref: UMLS:C1861528
xref: UMLS:C1866710
xref: UMLS:C4280411
is_a: HP:0009105 ! Abnormal ossification of the pubic bone

[Term]
id: HP:0008789
name: Cone-shaped capital femoral epiphysis
def: "A cone-shaped deformity of the proximal epiphysis of the femur." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cone-shaped end part of innermost thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Tear drop-shaped capital femoral epiphysis" EXACT []
xref: UMLS:C1846157
is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head
is_a: HP:0010579 ! Cone-shaped epiphysis

[Term]
id: HP:0008794
name: Dysplastic iliac wing
def: "A general term that describes a congenital defect in the iliac wing resulting from abnormal development." []
synonym: "Dysplastic iliac wings" EXACT plural_form []
xref: UMLS:C1837487
is_a: HP:0011867 ! Abnormal iliac wing morphology

[Term]
id: HP:0008796
name: Femoral retroversion
alt_id: HP:0003783
def: "An abnormal backward rotation of the hip relative to the knee such that the hips are externally rotated with the foot pointed outward instead of straight ahead (out-toeing)." []
comment: Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degrees at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion is below this range.
synonym: "Decreased femoral torsion" EXACT []
synonym: "Externally rotated hips" EXACT layperson []
xref: UMLS:C1846339
is_a: HP:0031069 ! Abnormal femoral torsion

[Term]
id: HP:0008797
name: Early ossification of capital femoral epiphyses
def: "Developmental acceleration of ossification of the proximal epiphysis of the femur." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024621
is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck
is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head
is_a: HP:0010656 ! Abnormal epiphyseal ossification

[Term]
id: HP:0008798
name: Widened greater sciatic notch
alt_id: HP:0010457
def: "The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch." [https://orcid.org/0000-0002-0736-9199]
synonym: "Widened sacrosciatic notch" EXACT []
synonym: "Widening of the sacrosciatic notch" EXACT []
xref: UMLS:C4024620
is_a: HP:0010456 ! Abnormal greater sciatic notch morphology

[Term]
id: HP:0008800
name: Limited hip movement
def: "A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip." [https://orcid.org/0000-0002-0736-9199]
synonym: "Limited hip movement" EXACT layperson []
xref: UMLS:C1851542
is_a: HP:0001376 ! Limitation of joint mobility

[Term]
id: HP:0008801
name: Hypoplasia of the lesser trochanter
def: "Underdevelopment of the lesser trochanter." [https://orcid.org/0000-0002-0736-9199]
synonym: "Lesser trochanter hypoplasia" EXACT []
xref: UMLS:C1840062
is_a: HP:0003366 ! Abnormal femoral neck/head morphology

[Term]
id: HP:0008802
name: Hypoplasia of the femoral head
alt_id: HP:0008831
def: "Underdevelopment of the femoral head." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic femoral head" EXACT []
synonym: "Small femoral heads" EXACT []
synonym: "Small head of thigh bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1856920
is_a: HP:0003368 ! Abnormal femoral head morphology
is_a: HP:0009108 ! Aplasia/Hypoplasia involving the femoral head and neck

[Term]
id: HP:0008803
name: obsolete Narrow sacroiliac notch
is_obsolete: true
replaced_by: HP:0003375

[Term]
id: HP:0008804
name: Broad femoral head
def: "Increased width of the femoral head." [https://orcid.org/0000-0002-0736-9199]
synonym: "Wide head of thigh bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024619
is_a: HP:0003368 ! Abnormal femoral head morphology

[Term]
id: HP:0008807
name: Acetabular dysplasia
alt_id: HP:0008799
def: "A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-6670-9157, PMID:23764788, PMID:34377520]
comment: Acetabular dysplasia can lead to hip pain and early-onset hip osteoarthritis.
synonym: "Decreased femoral head coverage by acetabulum" RELATED []
synonym: "Dysplastic acetabulae" EXACT []
xref: UMLS:C1328407
is_a: HP:0003170 ! Abnormal acetabulum morphology

[Term]
id: HP:0008808
name: High iliac wing
alt_id: HP:0008778
def: "Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally)." [https://orcid.org/0000-0002-0736-9199]
synonym: "High iliac wings" EXACT plural_form []
synonym: "Narrow, high iliac wings" EXACT []
xref: UMLS:C1969680
is_a: HP:0011867 ! Abnormal iliac wing morphology

[Term]
id: HP:0008812
name: Flattened femoral head
def: "An abnormally flattened femoral head." [https://orcid.org/0000-0002-0736-9199]
synonym: "Flat head of thigh bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Flattened femoral heads" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1860601
is_a: HP:0003368 ! Abnormal femoral head morphology

[Term]
id: HP:0008817
name: Aplastic pubic bone
def: "A developmental defect characterized by lack of development of the pubis bone." []
synonym: "Absent pubic bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Aplastic pubic bones" EXACT plural_form []
xref: UMLS:C1848660
is_a: HP:0009104 ! Aplasia/Hypoplasia of the pubic bone

[Term]
id: HP:0008818
name: Large iliac wing
def: "Increased size of the ilium ala." [https://orcid.org/0000-0002-0736-9199]
synonym: "Large iliac wings" EXACT plural_form []
xref: UMLS:C4024618
is_a: HP:0011867 ! Abnormal iliac wing morphology

[Term]
id: HP:0008819
name: Narrow femoral neck
def: "An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Narrow femoral necks" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Narrow neck of thigh bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1863739
is_a: HP:0003367 ! Abnormal femoral neck morphology

[Term]
id: HP:0008820
name: Absent ossification of capital femoral epiphysis
def: "Lack of ossification of the proximal epiphysis of the femur." [https://orcid.org/0000-0002-0736-9199]
comment: The ossification center of the capital femoral epiphysis appears at the end of the first year after birth.
synonym: "Absent ossification of femoral capital epiphyses" EXACT []
xref: UMLS:C1968686
is_a: HP:0005003 ! Aplasia/Hypoplasia of the capital femoral epiphysis
is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck
is_a: HP:0010656 ! Abnormal epiphyseal ossification

[Term]
id: HP:0008821
name: Hypoplastic inferior ilia
xref: UMLS:C1837078
is_a: HP:0000946 ! Hypoplastic ilia

[Term]
id: HP:0008822
name: Hypoplastic ischiopubic ramus
def: "Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic ischiopubic rami" EXACT plural_form []
xref: UMLS:C4024617
is_a: HP:0003173 ! Hypoplastic pubic bone
is_a: HP:0003175 ! Hypoplastic ischia

[Term]
id: HP:0008823
name: Inferior pubic ramus hypoplasia
def: "Underdevelopment of the lower branch of the pubis bone (inferior pubic ramus)." []
comment: The pubis is the anterior part of the hip bone and forms the anterior and inferior borders of the obturator foramen (the obturator foramen is the opening between the ischium and pubic bones). It is divisible into a body, a superior and an inferior ramus.
synonym: "Hypoplastic inferior pubic rami" EXACT []
xref: UMLS:C1853573
is_a: HP:0008830 ! Hypoplastic pubic ramus

[Term]
id: HP:0008824
name: Hypoplastic iliac body
alt_id: HP:0005740
def: "Underdevelopment of the body of ilium." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic iliac bodies" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Small iliac bodies" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1849034
is_a: HP:0000946 ! Hypoplastic ilia

[Term]
id: HP:0008826
name: obsolete Dislocation of the femoral head
is_obsolete: true
replaced_by: HP:0002827

[Term]
id: HP:0008828
name: Delayed proximal femoral epiphyseal ossification
def: "Developmental delay of ossification of the proximal epiphysis of the femur." [https://orcid.org/0000-0002-0736-9199]
comment: The proximal femoral epiphyseal ossification center normally appears at about age 6 months.
synonym: "Delayed ossification of the proximal femoral epiphysis" EXACT []
synonym: "Delayed ossification proximal femoral epiphyses" EXACT []
xref: UMLS:C1855222
is_a: HP:0002663 ! Delayed epiphyseal ossification
is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck
is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head

[Term]
id: HP:0008829
name: Delayed femoral head ossification
def: "Delayed ossification of the femoral head." [https://orcid.org/0000-0002-0736-9199]
synonym: "Delayed maturation of the head of the thigh bone" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1846446
xref: UMLS:C4280410
is_a: HP:0003368 ! Abnormal femoral head morphology
is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck

[Term]
id: HP:0008830
name: Hypoplastic pubic ramus
def: "Underdevelopment of a ramus (branch) of the pubic bone." []
synonym: "Hypoplastic pubic rami" EXACT plural_form []
xref: UMLS:C1969176
is_a: HP:0003173 ! Hypoplastic pubic bone

[Term]
id: HP:0008833
name: Irregular acetabular roof
xref: UMLS:C1834975
is_a: HP:0003170 ! Abnormal acetabulum morphology

[Term]
id: HP:0008835
name: Multicentric femoral head ossification
def: "There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers." [https://orcid.org/0000-0002-0736-9199]
comment: Additionally, the ossification center of the capital femoral epiphysis appears at the end of the first year after birth. This is not what this term refers to.
xref: UMLS:C1846447
is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck

[Term]
id: HP:0008838
name: Stippled calcification proximal humeral epiphyses
synonym: "Speckled calcifications in end part of innermost long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1857243
is_a: HP:0003901 ! Stippled calcification of the humeral epiphyses

[Term]
id: HP:0008839
name: Hypoplastic pelvis
alt_id: HP:0003373
alt_id: HP:0008816
def: "Underdevelopment of the bony pelvis." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Hypoplastic pelvic bones" EXACT []
synonym: "Small pelvis" EXACT []
xref: UMLS:C3536734
is_a: HP:0009103 ! Aplasia/Hypoplasia involving the pelvis

[Term]
id: HP:0008843
name: Hip osteoarthritis
alt_id: HP:0008809
synonym: "Osteoarthritis of hip" EXACT []
xref: SNOMEDCT_US:239872002
xref: UMLS:C0029410
is_a: HP:0002758 ! Osteoarthritis

[Term]
id: HP:0008845
name: Mesomelic short stature
alt_id: HP:0008896
alt_id: HP:0008903
alt_id: HP:0008910
def: "A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Dwarfism, short limb mesomelic" EXACT []
synonym: "Mesomelic dwarfism" EXACT obsolete_synonym []
synonym: "Short stature, disproportionate mesomelic" EXACT []
synonym: "Short stature, mesomelic" EXACT []
xref: UMLS:C1855274
is_a: HP:0008873 ! Disproportionate short-limb short stature

[Term]
id: HP:0008846
name: Severe intrauterine growth retardation
alt_id: HP:0008899
alt_id: HP:0008906
def: "Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age." [https://orcid.org/0000-0002-0736-9199]
synonym: "Intrauterine growth retardation, severe" EXACT []
synonym: "Severe prenatal growth deficiency" EXACT layperson []
xref: UMLS:C1855843
is_a: HP:0001511 ! Intrauterine growth retardation

[Term]
id: HP:0008848
name: Moderately short stature
alt_id: HP:0008891
def: "A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex." [https://orcid.org/0000-0002-6410-0882]
synonym: "Moderate short stature" EXACT layperson []
synonym: "Short stature, moderate" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1861519
is_a: HP:0003508 ! Proportionate short stature

[Term]
id: HP:0008850
name: Severe postnatal growth retardation
alt_id: HP:0001521
alt_id: HP:0008854
alt_id: HP:0008911
alt_id: HP:0008932
def: "Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms." [https://orcid.org/0000-0002-6410-0882]
synonym: "Marked growth retardation" EXACT layperson []
synonym: "Severe growth delay in children" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Severe postnatal growth deficiency" EXACT []
synonym: "Severe postnatal growth failure" EXACT layperson []
xref: UMLS:C1857641
is_a: HP:0008897 ! Postnatal growth retardation

[Term]
id: HP:0008855
name: Moderate postnatal growth retardation
def: "A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms." [https://orcid.org/0000-0002-6410-0882]
synonym: "Moderate growth delay in children" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024616
is_a: HP:0008897 ! Postnatal growth retardation

[Term]
id: HP:0008857
name: Neonatal short-trunk short stature
def: "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth." [https://orcid.org/0000-0002-0736-9199]
synonym: "Short-trunk dwarfism identifiable at birth" EXACT []
xref: UMLS:C3149908
is_a: HP:0003521 ! Disproportionate short-trunk short stature

[Term]
id: HP:0008866
name: Failure to thrive secondary to recurrent infections
def: "Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections." [https://en.wikipedia.org/wiki/Failure_to_thrive]
synonym: "Faltering weight secondary to recurrent infections" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Weight faltering secondary to recurrent infections" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1832323
is_a: HP:0001508 ! Failure to thrive
is_a: HP:0002719 ! Recurrent infections
is_a: HP:0032169 ! Severe infection

[Term]
id: HP:0008872
name: Feeding difficulties in infancy
alt_id: HP:0002016
alt_id: HP:0002022
alt_id: HP:0002568
def: "Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C2674608
is_a: HP:0011968 ! Feeding difficulties

[Term]
id: HP:0008873
name: Disproportionate short-limb short stature
alt_id: HP:0001523
alt_id: HP:0003505
alt_id: HP:0003509
alt_id: HP:0008858
alt_id: HP:0008869
alt_id: HP:0008875
alt_id: HP:0008880
alt_id: HP:0008881
alt_id: HP:0008889
alt_id: HP:0008912
alt_id: HP:0008914
alt_id: HP:0008928
def: "A type of disproportionate short stature characterized by a short limbs but an average-sized trunk." [https://orcid.org/0000-0002-0736-9199]
comment: A type of dwarfism (marked short stature with adult height below 147 cm) in which the limbs are disproportionately affected. Note that brachymelia is a general term referring to shortening of the limbs. Micromelia refers to the shortening of entire limbs (in contrast to rhizomelia, mesomelia, and acromelia, which refer to shortening of the proximal, middle, or distal portions of the limbs).
subset: hposlim_core
synonym: "Brachymelic dwarfism" EXACT []
synonym: "Disproportionate short limb dwarfism" EXACT []
synonym: "Dwarfism, short-limbed" EXACT []
synonym: "Micromelic dwarfism" EXACT []
synonym: "Short limb dwarfism" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Short limb dwarfism, disproportionate" EXACT layperson []
synonym: "Short stature, disproportionate short limb" EXACT []
synonym: "Short stature, disproportionate short-limb" EXACT []
synonym: "Short-limb dwarfism" EXACT []
synonym: "Short-limbed dwarfism" EXACT layperson []
xref: UMLS:C1849937
is_a: HP:0003498 ! Disproportionate short stature

[Term]
id: HP:0008883
name: Mild intrauterine growth retardation
alt_id: HP:0008861
def: "Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age." [https://orcid.org/0000-0002-6410-0882]
synonym: "Mild prenatal growth deficiency" EXACT []
xref: UMLS:C1840006
is_a: HP:0001511 ! Intrauterine growth retardation

[Term]
id: HP:0008887
name: Adipose tissue loss
alt_id: HP:0008938
def: "A reduction in the amount of adipose tissue (fat) compared with the amount previously present in an individual." [https://orcid.org/0000-0002-0736-9199]
synonym: "Loss of fat tissue" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024615
is_a: HP:0040063 ! Decreased adipose tissue

[Term]
id: HP:0008890
name: Severe short-limb dwarfism
xref: UMLS:C1860105
is_a: HP:0008873 ! Disproportionate short-limb short stature

[Term]
id: HP:0008897
name: Postnatal growth retardation
alt_id: HP:0008844
alt_id: HP:0008865
alt_id: HP:0008868
alt_id: HP:0008901
alt_id: HP:0008918
def: "Slow or limited growth after birth." [https://orcid.org/0000-0002-6410-0882]
synonym: "Growth delay as children" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Growth retardation as children" EXACT []
synonym: "Postnatal growth deceleration" EXACT []
synonym: "Postnatal growth deficiency" EXACT []
synonym: "Postnatal growth failure" EXACT []
xref: UMLS:C1859778
is_a: HP:0001510 ! Growth delay

[Term]
id: HP:0008905
name: Rhizomelia
alt_id: HP:0002968
alt_id: HP:0003520
alt_id: HP:0008852
alt_id: HP:0008877
def: "Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus)." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Disproportionately short upper portion of limb" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Rhizomelic dwarfism" EXACT []
synonym: "Rhizomelic limb shortening" EXACT []
synonym: "Rhizomelic short limbs" EXACT []
synonym: "Rhizomelic short stature" EXACT []
synonym: "Rhizomelic shortening" EXACT []
synonym: "Short stature, rhizomelic" EXACT []
synonym: "Symmetrical rhizomelic limb shortening" EXACT []
xref: UMLS:C1866730
is_a: HP:0008873 ! Disproportionate short-limb short stature
is_a: HP:0009826 ! Limb undergrowth

[Term]
id: HP:0008909
name: Lethal short-limbed short stature
alt_id: HP:0003506
synonym: "Lethal micromelic dwarfism" EXACT []
synonym: "Lethal short-limbed dwarfism" EXACT []
xref: UMLS:C2674171
is_a: HP:0008873 ! Disproportionate short-limb short stature

[Term]
id: HP:0008915
name: Childhood-onset truncal obesity
alt_id: HP:0008874
def: "Truncal obesity with onset during childhood, defined as between 2 and 10 years of age." [https://orcid.org/0000-0002-0736-9199]
synonym: "Truncal obesity apparent in childhood" EXACT []
xref: UMLS:C1859846
is_a: HP:0001956 ! Truncal obesity

[Term]
id: HP:0008921
name: Neonatal short-limb short stature
alt_id: HP:0001536
alt_id: HP:0008894
alt_id: HP:0008902
alt_id: HP:0008924
def: "A type of short-limbed dwarfism that is manifest beginning in the neonatal period." [https://orcid.org/0000-0002-0736-9199]
synonym: "Dwarfism, neonatal short-limbed" EXACT []
synonym: "Neonatal short-limbed dwarfism" EXACT []
synonym: "Short limb dwarfism recognisable at birth" EXACT uk_spelling []
synonym: "Short limb dwarfism recognizable at birth" EXACT layperson []
synonym: "Short-limb dwarfism identifiable at birth" EXACT layperson []
synonym: "Short-limb dwarfism identifiable neonatally" EXACT []
synonym: "Short-limbed dwarfism identifiable at birth" EXACT layperson []
xref: UMLS:C1850171
is_a: HP:0008873 ! Disproportionate short-limb short stature

[Term]
id: HP:0008922
name: Childhood-onset short-trunk short stature
alt_id: HP:0003522
def: "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Childhood-onset short-trunk short stature" EXACT layperson []
synonym: "Disproportionate short-trunk short stature, identifiable in childhood" EXACT layperson []
synonym: "Short-trunk dwarfism identifiable during childhood" EXACT layperson []
xref: UMLS:C3148833
is_a: HP:0003521 ! Disproportionate short-trunk short stature

[Term]
id: HP:0008929
name: Asymmetric short stature
xref: UMLS:C4024614
is_a: HP:0004322 ! Short stature

[Term]
id: HP:0008935
name: Generalized neonatal hypotonia
def: "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature." [https://orcid.org/0000-0002-0736-9199]
synonym: "Generalised low muscle tone in neonate" EXACT uk_spelling []
synonym: "Generalised neonatal hypotonia" EXACT uk_spelling []
synonym: "Generalized low muscle tone in neonate" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Hypotonia, neonatal, generalised" EXACT uk_spelling []
synonym: "Hypotonia, neonatal, generalized" EXACT []
xref: UMLS:C1845123
is_a: HP:0001319 ! Neonatal hypotonia

[Term]
id: HP:0008936
name: Axial hypotonia
alt_id: HP:0002320
alt_id: HP:0009062
def: "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk." [https://orcid.org/0000-0002-0736-9199]
synonym: "Low muscle tone in trunk" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Muscular hypotonia of the trunk" EXACT []
synonym: "Truncal hypotonia" EXACT []
xref: UMLS:C1853743
is_a: HP:0001252 ! Hypotonia

[Term]
id: HP:0008940
name: Generalized lymphadenopathy
def: "A generalized form of lymphadenopathy." [https://orcid.org/0000-0002-0736-9199]
synonym: "Generalised lymphadenopathy" EXACT uk_spelling []
synonym: "Generalised swelling of lymph nodes" EXACT uk_spelling []
synonym: "Generalized swelling of lymph nodes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Swollen lymph nodes affecting all regions of the body" EXACT layperson []
xref: SNOMEDCT_US:274741002
xref: UMLS:C0476486
is_a: HP:0002716 ! Lymphadenopathy

[Term]
id: HP:0008942
name: Acute rhabdomyolysis
def: "An acute form of rhabdomyolysis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Rhabdomyolysis, acute" EXACT []
xref: UMLS:C3807306
is_a: HP:0003201 ! Rhabdomyolysis

[Term]
id: HP:0008944
name: Distal lower limb amyotrophy
alt_id: HP:0003442
alt_id: HP:0003714
alt_id: HP:0006975
alt_id: HP:0008949
alt_id: HP:0009001
def: "Muscular atrophy of distal leg muscles." [https://orcid.org/0000-0002-0736-9199]
comment: Distal lower limb muscle atrophy is commonly due to peripheral neuropathy.
synonym: "Lower leg amyotrophy" EXACT []
synonym: "Lower limb atrophy" RELATED []
synonym: "Lower limb degeneration" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Lower limb muscle hypotrophy" RELATED []
synonym: "Muscle atrophy, lower limb, distal" EXACT []
xref: UMLS:C1836451
xref: UMLS:C1866863
xref: UMLS:C3806644
is_a: HP:0003693 ! Distal amyotrophy
is_a: HP:0007210 ! Lower limb amyotrophy

[Term]
id: HP:0008945
name: Loss of ability to walk in early childhood
xref: UMLS:C1835993
is_a: HP:0002505 ! Loss of ambulation

[Term]
id: HP:0008946
name: Pelvic girdle amyotrophy
def: "Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hip girdle amyotrophy" EXACT []
xref: UMLS:C4021528
is_a: HP:0003797 ! Limb-girdle muscle atrophy

[Term]
id: HP:0008947
name: Floppy infant
alt_id: HP:0002449
alt_id: HP:0002523
alt_id: HP:0010572
def: "Floppiness/hypotonia is defined as reduced resistance to passive movement of joints. Physical examination of floppy/hypotonic infants shows head lag, lack of shoulder and elbow muscle contraction on traction response, inability to tighten the shoulder girdle muscles (or slipping through) when held under the axillae, scarf sign (when the arm is pulled to the opposite side, the arm wraps around the neck with the elbow crossing midline), hyperdorsiflexion of the feet, easy apposition of the thumb against the forearm, feet touching the cheek with ease and without discomfort, frog leg position, and inverted U sign on ventral suspension (head, arms, and legs hanging down without elbow or knee flexion and the trunk rounded in a dome shape)." [PMID:19078754]
comment: This term should not be used for new annotations. Instead, state the type of onset of hypotonia more exactly.
synonym: "Decreased muscle tone in infant" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Hypotonia early" EXACT []
synonym: "Hypotonia in infancy" EXACT []
synonym: "Hypotonia, early" EXACT []
synonym: "Infantile hypotonia" EXACT []
synonym: "Infantile muscular hypotonia" EXACT []
xref: UMLS:C1860834
is_a: HP:0001252 ! Hypotonia

[Term]
id: HP:0008948
name: Proximal upper limb amyotrophy
alt_id: HP:0008995
def: "Muscular atrophy affecting proximally located muscles of the arms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Proximal muscle atrophy in upper limbs" EXACT []
synonym: "Proximal upper limb muscle atrophy" EXACT []
xref: UMLS:C1866013
is_a: HP:0001457 ! Abnormality of the musculature of the upper arm
is_a: HP:0007126 ! Proximal amyotrophy

[Term]
id: HP:0008952
name: Shoulder muscle hypoplasia
def: "Underdevelopment of muscles of the shoulder." [https://orcid.org/0000-0002-0736-9199]
synonym: "Underdeveloped shoulder muscle" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1969001
is_a: HP:0001464 ! Aplasia/Hypoplasia involving the shoulder musculature
is_a: HP:0009004 ! Hypoplasia of the musculature

[Term]
id: HP:0008953
name: Pectoralis major hypoplasia
def: "Underdevelopment of the pectoralis major." [https://orcid.org/0000-0002-0736-9199]
comment: The pectoralis major is a thick, fan-shaped muscle of the anterior chest.
synonym: "Pectoralis major muscle hypoplasia" EXACT []
xref: UMLS:C1840086
is_a: HP:0011957 ! Abnormal pectoral muscle morphology

[Term]
id: HP:0008954
name: Intrinsic hand muscle atrophy
def: "Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1864716
is_a: HP:0009130 ! Hand muscle atrophy

[Term]
id: HP:0008955
name: Progressive distal muscular atrophy
def: "Progressive muscular atrophy affecting muscles in the distal portions of the extremities." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024613
is_a: HP:0003693 ! Distal amyotrophy

[Term]
id: HP:0008956
name: Proximal lower limb amyotrophy
alt_id: HP:0003748
alt_id: HP:0008974
def: "Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh." [https://orcid.org/0000-0002-0736-9199]
synonym: "Amyotrophy involving the thigh" EXACT []
synonym: "Amyotrophy of the thigh musculature" EXACT []
synonym: "Proximal lower limb muscle atrophy" EXACT []
synonym: "Thigh muscle atrophy" EXACT []
synonym: "Wasting of thigh muscle" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1836767
is_a: HP:0001441 ! Abnormality thigh musculature morphology
is_a: HP:0007126 ! Proximal amyotrophy

[Term]
id: HP:0008959
name: Distal upper limb muscle weakness
def: "Reduced strength of the distal musculature of the arms." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C3150620
is_a: HP:0002460 ! Distal muscle weakness
is_a: HP:0002817 ! Abnormality of the upper limb

[Term]
id: HP:0008962
name: Calf muscle hypoplasia
def: "Underdevelopment of the muscuklature of the calf." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic calf muscles" EXACT []
synonym: "Underdeveloped calf muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C3805450
is_a: HP:0001430 ! Abnormal calf musculature morphology
is_a: HP:0009004 ! Hypoplasia of the musculature

[Term]
id: HP:0008963
name: Tibialis muscle weakness
def: "Muscle weakness affecting the tibialis anterior muscle." [https://orcid.org/0000-0002-0736-9199]
comment: This is a bundled term which should be made obsolete.
xref: UMLS:C4024612
is_a: HP:0009053 ! Distal lower limb muscle weakness

[Term]
id: HP:0008964
name: Nonprogressive muscular atrophy
def: "Muscular atrophy that does not display a progression in severity with time." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024611
is_a: HP:0003202 ! Skeletal muscle atrophy

[Term]
id: HP:0008967
name: Exercise-induced muscle stiffness
alt_id: HP:0003633
def: "A type of muscle stiffness that occurs following physical exertion." [https://orcid.org/0000-0002-0736-9199]
synonym: "Exercise-induced muscle stiffness" EXACT layperson []
synonym: "Muscle stiffness with exercise" EXACT layperson []
synonym: "Muscle stiffness, exercise-induced" EXACT layperson []
xref: UMLS:C1855579
is_a: HP:0003552 ! Muscle stiffness

[Term]
id: HP:0008968
name: Muscle hypertrophy of the lower extremities
def: "Muscle hypertrophy primarily affecting the legs." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1850663
is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs
is_a: HP:0003712 ! Skeletal muscle hypertrophy

[Term]
id: HP:0008969
name: Leg muscle stiffness
xref: UMLS:C4024610
is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs
is_a: HP:0003552 ! Muscle stiffness

[Term]
id: HP:0008970
name: Scapulohumeral muscular dystrophy
xref: SNOMEDCT_US:240074006
xref: UMLS:C0410192
is_a: HP:0003560 ! Muscular dystrophy

[Term]
id: HP:0008972
name: Decreased activity of mitochondrial respiratory chain
def: "Decreased activity of the mitochondrial respiratory chain." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased activities of mitochondrial-encoded respiratory chain complexes" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Decreased activity of mitochondrial respiratory complexes" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1835995
xref: UMLS:C3276441
xref: UMLS:C4024609
is_a: HP:0011922 ! Abnormal activity of mitochondrial respiratory chain

[Term]
id: HP:0008978
name: Necrotizing myopathy
xref: UMLS:C4024608
is_a: HP:0003198 ! Myopathy

[Term]
id: HP:0008981
name: Calf muscle hypertrophy
alt_id: HP:0003703
alt_id: HP:0009024
def: "Muscle hypertrophy affecting the calf muscles." [https://orcid.org/0000-0002-0736-9199]
comment: Distal lower limb hypertrophy
synonym: "Calf hypertrophy" EXACT []
synonym: "Increased size of calf muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Muscular hypertrophy of the calf muscles" EXACT []
xref: UMLS:C1843057
is_a: HP:0001430 ! Abnormal calf musculature morphology
is_a: HP:0008968 ! Muscle hypertrophy of the lower extremities

[Term]
id: HP:0008984
name: Neck muscle hypoplasia
def: "Underdevelopment of muscles of the neck." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased size of neck muscle" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deficiency of neck muscle" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypotrophic neck muscle" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Small neck muscle" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of neck muscle" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1969000
xref: UMLS:C4280408
xref: UMLS:C4280409
is_a: HP:0009004 ! Hypoplasia of the musculature
is_a: HP:0025668 ! Abnormal neck morphology

[Term]
id: HP:0008985
name: Increased intramuscular fat
def: "An abnormal increase in the amount of intramuscular fat tissue." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased IM fat" EXACT abbreviation []
synonym: "Increased intramuscular fat" EXACT layperson []
xref: UMLS:C1835389
is_a: HP:0009126 ! Increased adipose tissue
is_a: HP:0011805 ! Abnormal skeletal muscle morphology

[Term]
id: HP:0008986
name: Agenesis of the diaphragm
def: "Congenital lack, i.e., aplasia of the diaphragm." [https://orcid.org/0000-0002-0736-9199]
comment: An extremely large diaphragmatic defect, or apparent absence of the hemidiaphragm, is called agenesis of the diaphragm; this defect probably represents the severe end of the Bochdalek hernia spectrum rather than a distinct entity.
synonym: "Absent diaphragm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Agenesis of diaphragm" RELATED []
xref: SNOMEDCT_US:702613006
xref: SNOMEDCT_US:72424001
xref: UMLS:C0221360
is_a: HP:0010315 ! Aplasia/Hypoplasia of the diaphragm

[Term]
id: HP:0008988
name: Pelvic girdle muscle atrophy
alt_id: HP:0008992
def: "Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Pelvic girdle muscle wasting" EXACT []
xref: UMLS:C0240679
is_a: HP:0001445 ! Abnormality of the hip-girdle musculature
is_a: HP:0001471 ! Aplasia/Hypoplasia of the musculature of the pelvis

[Term]
id: HP:0008991
name: Exercise-induced leg cramps
def: "Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024607
is_a: HP:0003710 ! Exercise-induced muscle cramps

[Term]
id: HP:0008993
name: Increased intraabdominal fat
def: "An abnormal increase in the amount of intraabdominal fat tissue." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1835390
is_a: HP:0009126 ! Increased adipose tissue

[Term]
id: HP:0008994
name: Proximal muscle weakness in lower limbs
alt_id: HP:0002455
alt_id: HP:0008941
def: "A lack of strength of the proximal muscles of the legs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Muscle weakness, proximal, lower limbs" EXACT []
xref: UMLS:C1866010
is_a: HP:0003690 ! Limb muscle weakness
is_a: HP:0003701 ! Proximal muscle weakness

[Term]
id: HP:0008997
name: Proximal muscle weakness in upper limbs
def: "A lack of strength of the proximal muscles of the arms." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1866012
is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs
is_a: HP:0003484 ! Upper limb muscle weakness
is_a: HP:0003701 ! Proximal muscle weakness

[Term]
id: HP:0008998
name: Pectoralis hypoplasia
def: "Underdevelopment of the pectoral muscle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic pectoral muscle" EXACT []
synonym: "Small pec muscle" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Underdeveloped pec muscle" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1846477
is_a: HP:0005258 ! Pectoral muscle hypoplasia/aplasia
is_a: HP:0009004 ! Hypoplasia of the musculature

[Term]
id: HP:0009002
name: Loss of truncal subcutaneous adipose tissue
alt_id: HP:0008989
def: "Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk." [https://orcid.org/0000-0002-0736-9199]
synonym: "Loss of fat tissue in trunk" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Loss of subcutaneous truncal adipose tissue" EXACT []
synonym: "Loss of truncal adipose tissue" EXACT []
xref: UMLS:C1835384
is_a: HP:0008887 ! Adipose tissue loss

[Term]
id: HP:0009003
name: Increased subcutaneous truncal adipose tissue
def: "The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased fat below the skin in trunk" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1837781
is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue
is_a: HP:0009126 ! Increased adipose tissue

[Term]
id: HP:0009004
name: Hypoplasia of the musculature
alt_id: HP:0009034
def: "Underdevelopment of the musculature." [https://orcid.org/0009-0006-4530-3154]
synonym: "Muscle hypoplasia" EXACT []
synonym: "Poorly developed skeletal musculature" EXACT layperson []
synonym: "Underdeveloped muscle" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Underdeveloped muscles" EXACT []
xref: SNOMEDCT_US:205530002
xref: UMLS:C0240414
is_a: HP:0001460 ! Aplasia/Hypoplasia involving the skeletal musculature

[Term]
id: HP:0009005
name: Weakness of the intrinsic hand muscles
synonym: "Intrinsic hand muscle weakness" RELATED []
xref: UMLS:C1834536
is_a: HP:0001421 ! Abnormality of the musculature of the hand

[Term]
id: HP:0009007
name: Biceps hypoplasia
def: "Underdevelopment of the biceps muscle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic biceps" EXACT []
synonym: "Underdeveloped biceps" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1862499
is_a: HP:0009782 ! Aplasia/Hypoplasia of the biceps
is_a: HP:0030239 ! Hypoplasia of the upper arm musculature

[Term]
id: HP:0009011
name: Hypoplasia of serratus anterior muscle
def: "Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1868167
is_a: HP:0009131 ! Abnormality of the musculature of the thorax

[Term]
id: HP:0009013
name: Congenital absence of gluteal muscles
xref: UMLS:C2930932
is_a: HP:0001443 ! Abnormality of the gluteal musculature
is_a: HP:0001471 ! Aplasia/Hypoplasia of the musculature of the pelvis

[Term]
id: HP:0009016
name: Upper limb muscle hypoplasia
def: "Underdevelopment of muscles of the arm." [https://orcid.org/0000-0002-0736-9199]
synonym: "Underdevelopment of upper limb muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1846478
is_a: HP:0001467 ! Aplasia/Hypoplasia involving the musculature of the upper limbs
is_a: HP:0009004 ! Hypoplasia of the musculature

[Term]
id: HP:0009017
name: Loss of gluteal subcutaneous adipose tissue
def: "Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region." [https://orcid.org/0000-0002-0736-9199]
synonym: "Loss of fat tissue below the skin in gluts" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024606
is_a: HP:0008887 ! Adipose tissue loss

[Term]
id: HP:0009019
name: Progressive loss of facial adipose tissue
synonym: "Atrophy of facial adipose tissue" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Facial fat atrophy" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Facial fat wasting" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Loss of subcutaneous adipose tissue from face, progressive" EXACT []
synonym: "Progressive loss of facial fat" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Progressive loss of facial subcutaneous adipose tissue" EXACT [https://orcid.org/0000-0001-5889-4462]
synonym: "Progressive loss of subcutaneous adipose tissue from face" EXACT [https://orcid.org/0000-0001-5889-4461]
xref: UMLS:C1837510
is_a: HP:0000292 ! Loss of facial adipose tissue

[Term]
id: HP:0009020
name: Exercise-induced muscle fatigue
def: "An abnormally increased tendency towards muscle fatigue induced by physical exercise." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1855580
is_a: HP:0003750 ! Increased muscle fatiguability

[Term]
id: HP:0009023
name: Abdominal wall muscle weakness
alt_id: HP:0001546
alt_id: HP:0004873
def: "Decreased strength of the abdominal musculature." [https://orcid.org/0000-0002-0736-9199]
comment: This may be associated with protuberance of the abdomen.
synonym: "Lax abdominal musculature" EXACT []
xref: UMLS:C4021527
is_a: HP:0001324 ! Muscle weakness

[Term]
id: HP:0009025
name: Increased connective tissue
def: "The presence of an abnormally increased amount of connective tissue." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1866021
is_a: HP:0003549 ! Abnormality of connective tissue

[Term]
id: HP:0009026
name: Hypoplasia of latissimus dorsi muscle
def: "Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C3805860
is_a: HP:0009131 ! Abnormality of the musculature of the thorax

[Term]
id: HP:0009027
name: Foot dorsiflexor weakness
alt_id: HP:0003377
def: "Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles." [https://orcid.org/0000-0002-0736-9199]
comment: Dorsiflexion of the foot extends the foot superiorly, as if taking the foot off the gas pedal.
synonym: "Foot drop" EXACT layperson []
synonym: "Foot extensor weakness" EXACT []
synonym: "Footdrop" EXACT []
synonym: "Inability to heel walk" EXACT layperson []
synonym: "Inability to walk on heels" EXACT layperson []
xref: SNOMEDCT_US:6077001
xref: UMLS:C0085684
xref: UMLS:C1866141
is_a: HP:0003690 ! Limb muscle weakness

[Term]
id: HP:0009028
name: Generalized weakness of limb muscles
def: "Generalized weakness of the muscles of the arms and legs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Generalised weakness of limb muscles" EXACT uk_spelling []
xref: UMLS:C4024605
is_a: HP:0009127 ! Abnormality of the musculature of the limbs

[Term]
id: HP:0009031
name: Amyotrophy of ankle musculature
def: "Atrophy of the muscles of the ankle." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024604
is_a: HP:0001436 ! Abnormality of the foot musculature

[Term]
id: HP:0009037
name: Segmental spinal muscular atrophy
xref: UMLS:C1866774
is_a: HP:0007269 ! Spinal muscular atrophy

[Term]
id: HP:0009042
name: obsolete Marked muscular hypertrophy
is_obsolete: true
replaced_by: HP:0003712

[Term]
id: HP:0009044
name: obsolete Hypoplasia of deltoid muscle
is_obsolete: true
replaced_by: HP:0030241

[Term]
id: HP:0009045
name: Exercise-induced rhabdomyolysis
def: "Rhabdomyolysis induced by exercise." [https://orcid.org/0000-0002-0736-9199]
synonym: "Rhabdomyolysis with exercise" EXACT []
xref: UMLS:C4021526
is_a: HP:0003201 ! Rhabdomyolysis

[Term]
id: HP:0009046
name: Difficulty running
def: "Reduced ability to run." [https://orcid.org/0000-0002-0736-9199]
synonym: "Difficulty running" EXACT layperson []
xref: SNOMEDCT_US:282479002
xref: UMLS:C0560346
is_a: HP:0004302 ! Functional motor deficit

[Term]
id: HP:0009049
name: Peroneal muscle atrophy
alt_id: HP:0008939
alt_id: HP:0008982
def: "Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius)." [https://orcid.org/0000-0002-0736-9199]
comment: The peroneus muscles (longus, brevis, and tertius) originate on the fibula and insert on the metatarsals.
synonym: "Peroneal atrophy" EXACT []
xref: UMLS:C1389118
is_a: HP:0001430 ! Abnormal calf musculature morphology
is_a: HP:0003202 ! Skeletal muscle atrophy

[Term]
id: HP:0009050
name: Quadriceps muscle atrophy
def: "Muscular atrophy involving the quadriceps muscle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Wasting of quad muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024603
is_a: HP:0008956 ! Proximal lower limb amyotrophy

[Term]
id: HP:0009051
name: Increased muscle glycogen content
def: "An increased amount of glycogen in muscle tissue." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1968729
is_a: HP:0012269 ! Abnormal muscle glycogen content

[Term]
id: HP:0009053
name: Distal lower limb muscle weakness
alt_id: HP:0003485
alt_id: HP:0009035
def: "Reduced strength of the distal musculature of the legs." [https://orcid.org/0000-0002-0736-9199]
comment: This finding can be due to peripheral neuropathy.
synonym: "Distal muscle weakness in lower limbs" EXACT []
synonym: "Muscle weakness, lower limb, distal" EXACT []
xref: UMLS:C1836450
is_a: HP:0002460 ! Distal muscle weakness
is_a: HP:0002814 ! Abnormality of the lower limb
is_a: HP:0007340 ! Lower limb muscle weakness

[Term]
id: HP:0009054
name: Scapuloperoneal myopathy
xref: UMLS:C2931268
is_a: HP:0001430 ! Abnormal calf musculature morphology
is_a: HP:0001465 ! Amyotrophy involving the shoulder musculature

[Term]
id: HP:0009055
name: Generalized limb muscle atrophy
alt_id: HP:0003788
def: "Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations." [https://orcid.org/0000-0002-0736-9199]
synonym: "Generalised limb muscle atrophy" EXACT uk_spelling []
synonym: "Generalised muscle atrophy, proximal and distal" EXACT uk_spelling []
synonym: "Generalised muscle wasting" EXACT uk_spelling []
synonym: "Generalized muscle atrophy, proximal and distal" EXACT []
synonym: "Generalized muscle wasting" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1838114
is_a: HP:0003700 ! Generalized amyotrophy

[Term]
id: HP:0009056
name: Loss of subcutaneous adipose tissue from upper limbs
synonym: "Loss of fat tissue below the skin from upper limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024602
is_a: HP:0003635 ! Loss of subcutaneous adipose tissue in limbs

[Term]
id: HP:0009058
name: Increased muscle lipid content
alt_id: HP:0100949
def: "An abnormal accumulation of lipids in skeletal muscle." [https://orcid.org/0000-0002-0736-9199, PMID:20691590]
comment: Increased neutral lipid content may be observed on muscle biopsies specimen with the specific staining of Sudan black or oil red O techniques by optic microscopy.
synonym: "Fat accumulation in muscle fibers" EXACT layperson []
synonym: "Fat accumulation in muscle fibres" EXACT uk_spelling []
synonym: "Fat deposits in muscle fibers" EXACT layperson []
synonym: "Fat deposits in muscle fibres" EXACT uk_spelling []
synonym: "Increased muscle lipid content" EXACT layperson []
synonym: "Lipid accumulation in skeletal muscle" EXACT layperson []
synonym: "Muscle lipidosis" EXACT []
synonym: "Skeletal muscle lipid accumulation" EXACT layperson []
xref: UMLS:C1837262
is_a: HP:0034370 ! Abnormal muscle tissue metabolite concentration

[Term]
id: HP:0009059
name: Congenital generalized lipodystrophy
synonym: "Congenital generalised lipodystrophy" EXACT uk_spelling []
xref: SNOMEDCT_US:284449005
xref: SNOMEDCT_US:86907008
xref: UMLS:C0221032
is_a: HP:0009125 ! Lipodystrophy

[Term]
id: HP:0009060
name: Scapular muscle atrophy
def: "Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle." [https://orcid.org/0000-0002-0736-9199]
comment: Need to add new UBERON term for scapula muscle
xref: UMLS:C3805969
is_a: HP:0001465 ! Amyotrophy involving the shoulder musculature

[Term]
id: HP:0009062
name: obsolete Infantile axial hypotonia
is_obsolete: true
replaced_by: HP:0008936

[Term]
id: HP:0009063
name: Progressive distal muscle weakness
alt_id: HP:0008933
alt_id: HP:0009022
alt_id: HP:0009057
def: "Progressively reduced strength of the distal musculature." [https://orcid.org/0000-0002-0736-9199]
synonym: "Muscle weakness, distal, progressive" EXACT []
synonym: "Muscle weakness, progressive, distal" EXACT []
xref: UMLS:C1836609
is_a: HP:0002460 ! Distal muscle weakness

[Term]
id: HP:0009064
name: Generalized lipodystrophy
alt_id: HP:0008966
def: "Generalized degenerative changes of the fat tissue." [https://orcid.org/0000-0002-0736-9199]
synonym: "Generalised lipodystrophy" EXACT uk_spelling []
synonym: "Lipodystrophy, generalised" EXACT uk_spelling []
synonym: "Lipodystrophy, generalized" EXACT []
xref: SNOMEDCT_US:284449005
xref: SNOMEDCT_US:86907008
xref: UMLS:C0221032
is_a: HP:0009125 ! Lipodystrophy

[Term]
id: HP:0009067
name: Progressive spinal muscular atrophy
def: "Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem." [https://orcid.org/0000-0002-0736-9199]
synonym: "Progressive spinal muscle degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Progressive spinal muscle wasting" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4082951
is_a: HP:0007269 ! Spinal muscular atrophy

[Term]
id: HP:0009069
name: Lethal infantile mitochondrial myopathy
xref: UMLS:C1838876
is_a: HP:0003737 ! Mitochondrial myopathy

[Term]
id: HP:0009071
name: Inflammatory myopathy
def: "Chronic muscle inflammation accompanied by muscle weakness." [PMID:19349710]
xref: SNOMEDCT_US:128496001
xref: SNOMEDCT_US:26889001
xref: UMLS:C0027121
is_a: HP:0003198 ! Myopathy

[Term]
id: HP:0009072
name: Decreased Achilles reflex
def: "Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hyporeflexia at ankle joints" EXACT []
xref: UMLS:C1837323
is_a: HP:0002600 ! Hyporeflexia of lower limbs

[Term]
id: HP:0009073
name: Progressive proximal muscle weakness
alt_id: HP:0008965
def: "Lack of strength of the proximal muscles that becomes progressively more severe." [https://orcid.org/0000-0002-0736-9199]
comment: Removed logical definition that used anonymous class. Outstanding term request in UBERON for proximal muscle organ.
synonym: "Muscle weakness, progressive, proximal" EXACT []
xref: UMLS:C1836156
is_a: HP:0003323 ! Progressive muscle weakness
is_a: HP:0003701 ! Proximal muscle weakness

[Term]
id: HP:0009077
name: Weakness of long finger extensor muscles
xref: UMLS:C4024601
is_a: HP:0030237 ! Hand muscle weakness

[Term]
id: HP:0009084
name: Midline notch of upper alveolar ridge
synonym: "Midline cleft of maxillary alveolar process" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Midline cleft of upper alveolar ridge" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Midline notch of maxillary alveolar process" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Midline notch of maxillary alveolar ridge" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Midline notch of upper gum ridge" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1851853
is_a: HP:0006477 ! Abnormal alveolar ridge morphology

[Term]
id: HP:0009085
name: Alveolar ridge overgrowth
alt_id: HP:0009078
alt_id: HP:0009083
def: "Increased width of the alveolar ridges." [PMID:19125428]
comment: This finding may or may not be accompanied by increased height of the alveolar ridge. This is not to be confused with Prominent palatal ridges or gingival overgrowth. This distinction of gingival from alveolar ridge overgrowth may be difficult, especially in milder degrees of the finding.
subset: hposlim_core
synonym: "Alveolar ridge excess" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Enlarged alveolar ridge" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hyperplasia of alveolar process of jaw" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hyperplasia of alveolar ridge" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypertrophied alveolar ridge" RELATED []
synonym: "Increased size of alveolar ridge" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased size of gum ridge" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Overgrowth of alveolar ridge" EXACT []
synonym: "Overgrowth of gum ridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thick alveolar ridges" EXACT []
synonym: "Thickened alveolar ridges" EXACT []
xref: UMLS:C1856164
xref: UMLS:C1865598
is_a: HP:0006477 ! Abnormal alveolar ridge morphology

[Term]
id: HP:0009087
name: Posteriorly placed tongue
synonym: "Posteriorly placed tongue" EXACT layperson []
xref: UMLS:C4024600
is_a: HP:0030809 ! Abnormal tongue morphology

[Term]
id: HP:0009088
name: Speech articulation difficulties
def: "Impairment in the physical production of speech sounds." []
comment: Speech articulation difficulties can result from abnormalities of the vocal tract (the larynx and the pharyngeal, oral, and nasal cavities).
xref: UMLS:C1865313
is_a: HP:0001608 ! Abnormality of the voice
is_a: HP:0002463 ! Language impairment
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-2592-4715
property_value: terms:contributor https://orcid.org/0000-0002-9593-5508
property_value: terms:contributor https://orcid.org/0000-0003-3777-1389

[Term]
id: HP:0009090
name: obsolete Facial diplegic appearance
is_obsolete: true
consider: HP:0001349

[Term]
id: HP:0009092
name: Progressive alveolar ridge hypertrophy
synonym: "Increasing overgrowth of gum ridge" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increasing size of gum ridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Progressive hypertrophy of alveolar process of jaw" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1854934
xref: UMLS:C4280407
is_a: HP:0006477 ! Abnormal alveolar ridge morphology

[Term]
id: HP:0009094
name: Cleft lower alveolar ridge
synonym: "Cleft of lower alveolar process" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Cleft of lower gingiva" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Cleft of lower gum ridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Cleft of mandibular alveolar process" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Cleft of mandibular gingiva" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Notch of lower alveolar process" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Notch of lower alveolar ridge" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Notch of lower gum ridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Notch of mandibular alveolar process" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Notch of mandibular alveolar ridge" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1849350
xref: UMLS:C4280404
xref: UMLS:C4280405
xref: UMLS:C4280406
is_a: HP:0006477 ! Abnormal alveolar ridge morphology

[Term]
id: HP:0009098
name: Chronic oral candidiasis
def: "Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx." []
synonym: "Chronic oral thrush" EXACT layperson [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024599
is_a: HP:0002728 ! Chronic mucocutaneous candidiasis

[Term]
id: HP:0009099
name: Median cleft palate
alt_id: HP:0008501
alt_id: HP:0009089
def: "Cleft palate of the midline of the palate." [https://orcid.org/0000-0002-0736-9199]
synonym: "Central cleft palate" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Midline cleft palate" EXACT layperson []
xref: UMLS:C1850968
is_a: HP:0000175 ! Cleft palate

[Term]
id: HP:0009100
name: Thick anterior alveolar ridges
synonym: "Thick anterior alveolar process of jaw" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1859377
is_a: HP:0009085 ! Alveolar ridge overgrowth

[Term]
id: HP:0009101
name: Submucous cleft lip
def: "A cleft of the lip with overlying mucous membrane." [https://orcid.org/0000-0002-0736-9199]
comment: Submucous cleft lip may lead to increased nasal resonance.
synonym: "Submucous labial cleft" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1839277
is_a: HP:5201010 ! Microform cleft of the upper lip

[Term]
id: HP:0009102
name: Anterior open-bite malocclusion
alt_id: HP:0200095
def: "Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion." [https://orcid.org/0000-0002-9338-3017, PMID:27615261]
synonym: "Absence of overlap of anterior upper and lower teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Anterior open bite" EXACT []
synonym: "Anterior open bite between upper and lower teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Anterior openbite" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "AOB" EXACT abbreviation [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Apertognathia malocclusion" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Gap between upper and lower front teeth when biting" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4024598
is_a: HP:0000689 ! Dental malocclusion
is_a: HP:0010807 ! Open bite

[Term]
id: HP:0009103
name: Aplasia/Hypoplasia involving the pelvis
synonym: "Absent/small pelvis" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped pelvis" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024597
is_a: HP:0002644 ! Abnormal pelvic girdle bone morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-04T08:40:00Z

[Term]
id: HP:0009104
name: Aplasia/Hypoplasia of the pubic bone
alt_id: HP:0008841
def: "Absence or underdevelopment of the pubic bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small pubic bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped pubic bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Hypoplastic/aplastic pubic bones" EXACT layperson []
xref: UMLS:C1849305
is_a: HP:0003172 ! Abnormal pubic bone morphology
is_a: HP:0009103 ! Aplasia/Hypoplasia involving the pelvis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-04T08:41:00Z

[Term]
id: HP:0009105
name: Abnormal ossification of the pubic bone
def: "Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal maturation of the pubic bone" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024596
xref: UMLS:C4280403
is_a: HP:0003172 ! Abnormal pubic bone morphology
is_a: HP:0009106 ! Abnormal pelvis bone ossification
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-04T08:41:00Z

[Term]
id: HP:0009106
name: Abnormal pelvis bone ossification
def: "An abnormality of the formation and mineralization of any bone of the bony pelvis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal maturation of the pelvis bone" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormal ossification involving the bones of the pelvis" EXACT []
xref: UMLS:C4021525
xref: UMLS:C4280402
is_a: HP:0002644 ! Abnormal pelvic girdle bone morphology
is_a: HP:0003336 ! Abnormal enchondral ossification
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-04T08:42:00Z

[Term]
id: HP:0009107
name: Abnormal ossification involving the femoral head and neck
synonym: "Abnormal maturation of thigh bone head and neck" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024595
is_a: HP:0003336 ! Abnormal enchondral ossification
is_a: HP:0003366 ! Abnormal femoral neck/head morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-04T08:42:00Z

[Term]
id: HP:0009108
name: Aplasia/Hypoplasia involving the femoral head and neck
synonym: "Absent/small head and neck of thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped head and neck of thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024594
is_a: HP:0003366 ! Abnormal femoral neck/head morphology
is_a: HP:0005613 ! Aplasia/hypoplasia of the femur
is_a: HP:0009103 ! Aplasia/Hypoplasia involving the pelvis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-04T08:44:00Z

[Term]
id: HP:0009109
name: Denervation of the diaphragm
def: "Interruption of the innervation of the diaphragm." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1858529
is_a: HP:0000775 ! Abnormality of the diaphragm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-05T10:41:00Z

[Term]
id: HP:0009110
name: Diaphragmatic eventration
alt_id: HP:0009114
def: "A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development." [https://orcid.org/0000-0002-0736-9199]
synonym: "Eventration of the diaphragm" RELATED []
xref: SNOMEDCT_US:34168003
xref: UMLS:C0011981
is_a: HP:0000775 ! Abnormality of the diaphragm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-05T10:42:00Z

[Term]
id: HP:0009112
name: Aplasia of the left hemidiaphragm
alt_id: HP:0040048
def: "Congenital absence of the left half of the diaphragm." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent left hemidiaphragm" EXACT []
synonym: "Left diaphragmatic hernia" EXACT []
xref: UMLS:C4024593
is_a: HP:0000776 ! Congenital diaphragmatic hernia
is_a: HP:0040046 ! Abnormal left hemidiaphragm morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-05T10:43:00Z

[Term]
id: HP:0009113
name: Diaphragmatic weakness
alt_id: HP:0005953
alt_id: HP:0009111
def: "A decrease in the strength of the diaphragm." [https://orcid.org/0000-0002-0736-9199, PMID:2509822]
comment: Diaphragmatic paralysis is an extreme form of diaphragmatic weakness. Weakness of the diaphragm can result from abnormalities at any site along its neuromuscular axis, although it most frequently arises from diseases in the phrenic nerves or from myopathies affecting the diaphragm itself. Presence of diaphragmatic weakness may be suspected from the complaint of dyspnea (particularly on exertion) or orthopnea; or the presence of rapid, shallow breathing or, more importantly, paradoxical inward motion of the abdomen during inspiration on physical examination.
synonym: "Diaphragmatic paraparesis" EXACT []
synonym: "Diminished diaphragmatic motion" RELATED []
synonym: "Weak diaphragm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:95438009
xref: UMLS:C0521532
xref: UMLS:C4020786
is_a: HP:0001324 ! Muscle weakness
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-05T10:43:00Z

[Term]
id: HP:0009115
name: Aplasia/hypoplasia involving the skeleton
def: "Absence (due to failure to form) or underdevelopment of one or more components of the skeleton." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small skeleton" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped skeleton" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024592
is_a: HP:0011842 ! Abnormal skeletal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-05T10:53:00Z

[Term]
id: HP:0009116
name: Aplasia/Hypoplasia involving bones of the skull
xref: UMLS:C4024591
is_a: HP:0000929 ! Abnormal skull morphology
is_a: HP:0009122 ! Aplasia/hypoplasia affecting bones of the axial skeleton
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-05T10:53:00Z

[Term]
id: HP:0009117
name: Aplasia/Hypoplasia of the maxilla
def: "Absence or underdevelopment of the maxilla." [https://orcid.org/0000-0002-0736-9199]
synonym: "Underdevelopment of maxilla" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of upper jaw bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4024590
is_a: HP:0000326 ! Abnormal maxilla morphology
is_a: HP:0009116 ! Aplasia/Hypoplasia involving bones of the skull
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-05T10:57:00Z

[Term]
id: HP:0009118
name: Aplasia/Hypoplasia of the mandible
def: "Absence or underdevelopment of the mandible." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C3494426
xref: UMLS:C4021371
xref: UMLS:C4024589
xref: UMLS:C4280261
xref: UMLS:C4280401
is_a: HP:0000277 ! Abnormal mandible morphology
is_a: HP:0009116 ! Aplasia/Hypoplasia involving bones of the skull
creation_date: 2008-04-05T10:57:00Z

[Term]
id: HP:0009119
name: Aplasia/Hypoplasia of the frontal sinuses
def: "Absence or underdevelopment of frontal sinus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormally small frontal sinus" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4024588
is_a: HP:0002687 ! Abnormality of frontal sinus
is_a: HP:0009120 ! Aplasia/Hypoplasia involving the sinuses
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-05T11:00:00Z

[Term]
id: HP:0009120
name: Aplasia/Hypoplasia involving the sinuses
def: "Absence or underdevelopment of a cranial sinus or sinuses." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024587
is_a: HP:0000245 ! Abnormal paranasal sinus morphology
is_a: HP:0009116 ! Aplasia/Hypoplasia involving bones of the skull
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-05T11:01:00Z

[Term]
id: HP:0009121
name: Abnormal axial skeleton morphology
def: "An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the axial skeleton" RELATED []
xref: UMLS:C4020785
xref: UMLS:C4024586
is_a: HP:0011842 ! Abnormal skeletal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-05T11:16:00Z

[Term]
id: HP:0009122
name: Aplasia/hypoplasia affecting bones of the axial skeleton
def: "Absence (due to failure to form) or underdevelopment of bones of the axial skeleton." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024585
is_a: HP:0009115 ! Aplasia/hypoplasia involving the skeleton
is_a: HP:0009121 ! Abnormal axial skeleton morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-05T11:29:00Z

[Term]
id: HP:0009123
name: Mixed hypo- and hyperpigmentation of the skin
xref: UMLS:C4024584
is_a: HP:0000953 ! Hyperpigmentation of the skin
is_a: HP:0001010 ! Hypopigmentation of the skin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-05T11:36:00Z

[Term]
id: HP:0009124
name: Abnormal adipose tissue morphology
def: "An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of adipose tissue" EXACT layperson []
synonym: "Abnormality of fat tissue" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of fatty tissue" EXACT layperson []
xref: UMLS:C4021524
is_a: HP:0003549 ! Abnormality of connective tissue
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-05T11:40:00Z

[Term]
id: HP:0009125
name: Lipodystrophy
def: "Degenerative changes of the fat tissue." [https://orcid.org/0000-0002-0736-9199]
synonym: "Inability to make and keep healthy fat tissue" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:71325002
xref: UMLS:C0023787
is_a: HP:0009124 ! Abnormal adipose tissue morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-05T11:40:00Z

[Term]
id: HP:0009126
name: Increased adipose tissue
def: "An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased adipose tissue" EXACT layperson []
synonym: "Increased fat tissue" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024583
is_a: HP:0009025 ! Increased connective tissue
is_a: HP:0009124 ! Abnormal adipose tissue morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-05T11:43:00Z

[Term]
id: HP:0009127
name: Abnormality of the musculature of the limbs
synonym: "Abnormal limb muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Muscle issues in the arms and/or legs" EXACT layperson []
xref: UMLS:C4024582
is_a: HP:0011805 ! Abnormal skeletal muscle morphology
is_a: HP:0040064 ! Abnormality of limbs
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-07T02:00:00Z

[Term]
id: HP:0009128
name: Aplasia/Hypoplasia involving the musculature of the extremities
synonym: "Absent/small muscles of extremities" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped muscles of extremities" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024581
is_a: HP:0001460 ! Aplasia/Hypoplasia involving the skeletal musculature
is_a: HP:0009127 ! Abnormality of the musculature of the limbs
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-07T02:01:00Z

[Term]
id: HP:0009129
name: Upper limb amyotrophy
alt_id: HP:0003471
def: "Muscular atrophy involving the muscles of the upper limbs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Amyotrophy involving the upper limbs" EXACT []
xref: UMLS:C4021523
is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs
is_a: HP:0003202 ! Skeletal muscle atrophy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-07T05:01:00Z

[Term]
id: HP:0009130
name: Hand muscle atrophy
alt_id: HP:0006967
alt_id: HP:0008934
alt_id: HP:0008951
alt_id: HP:0009038
def: "Muscular atrophy involving the muscles of the hand." [https://orcid.org/0000-0002-0736-9199]
comment: This term can be used to described bilateral amyotrophy of the musculature of the hand.
synonym: "Amyotrophy involving the musculature of the hand" EXACT []
synonym: "Amyotrophy of hand muscles" EXACT []
synonym: "Hand muscle degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Hand muscle wasting" EXACT []
synonym: "Hand muscle wasting, bilateral" EXACT []
xref: UMLS:C0239830
is_a: HP:0001421 ! Abnormality of the musculature of the hand
is_a: HP:0007149 ! Distal upper limb amyotrophy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-07T05:01:00Z

[Term]
id: HP:0009131
name: Abnormality of the musculature of the thorax
def: "A disease or lesion affecting the muscles of the thorax." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024580
is_a: HP:0011805 ! Abnormal skeletal muscle morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-07T05:06:00Z

[Term]
id: HP:0009132
name: Abnormal tarsal bone mineral density
def: "This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of bone mineral density involving tarsal bones" EXACT []
xref: UMLS:C4021522
is_a: HP:0001850 ! Abnormality of the tarsal bones
is_a: HP:0004348 ! Abnormality of bone mineral density
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-17T02:39:00Z

[Term]
id: HP:0009134
name: Osteolysis involving bones of the feet
xref: UMLS:C4024579
is_a: HP:0001760 ! Abnormal foot morphology
is_a: HP:0009139 ! Osteolysis involving bones of the lower limbs
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-17T02:43:00Z

[Term]
id: HP:0009136
name: Duplication involving bones of the feet
synonym: "Duplication involving bones of the feet" EXACT layperson []
xref: UMLS:C4024578
is_a: HP:0001760 ! Abnormal foot morphology
is_a: HP:0040069 ! Abnormal lower limb bone morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-17T02:45:00Z

[Term]
id: HP:0009138
name: Synostosis involving bones of the lower limbs
def: "An abnormal union between bones or parts of bones lower limbs." [https://orcid.org/0009-0006-4530-3154]
synonym: "Fusion involving the bones of the lower limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024577
is_a: HP:0040069 ! Abnormal lower limb bone morphology
is_a: HP:0100240 ! Synostosis of joints
is_a: HP:0100491 ! Abnormality of lower limb joint
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-17T02:51:00Z

[Term]
id: HP:0009139
name: Osteolysis involving bones of the lower limbs
xref: UMLS:C4024576
is_a: HP:0002797 ! Osteolysis
is_a: HP:0040069 ! Abnormal lower limb bone morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-17T02:52:00Z

[Term]
id: HP:0009140
name: Synostosis involving bones of the feet
synonym: "Fusion involving the bones of the feet" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024575
is_a: HP:0001760 ! Abnormal foot morphology
is_a: HP:0009138 ! Synostosis involving bones of the lower limbs
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-17T02:54:00Z

[Term]
id: HP:0009141
name: Depletion of mitochondrial DNA in muscle tissue
alt_id: HP:0009070
synonym: "Depletion of mitochondrial dna in skeletal muscle tissue" EXACT []
xref: UMLS:C4021521
is_a: HP:0003800 ! Muscle abnormality related to mitochondrial dysfunction
is_a: HP:0030059 ! Mitochondrial depletion
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-05-02T12:00:00Z

[Term]
id: HP:0009142
name: Duplication of bones involving the upper extremities
synonym: "Duplication of bones involving the upper extremities" EXACT layperson []
xref: UMLS:C4024574
is_a: HP:0002817 ! Abnormality of the upper limb
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-05-02T01:23:00Z

[Term]
id: HP:0009144
name: Supernumerary bones of the axial skeleton
xref: UMLS:C4024573
is_a: HP:0009121 ! Abnormal axial skeleton morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-05-02T01:29:00Z

[Term]
id: HP:0009145
name: Abnormal cerebral artery morphology
def: "Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of cerebral artery" EXACT layperson []
synonym: "Abnormality of the cerebral arteries" EXACT layperson []
xref: UMLS:C4021520
is_a: HP:0011004 ! Abnormal systemic arterial morphology
is_a: HP:0100659 ! Abnormal cerebral vascular morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-05-02T01:39:00Z

[Term]
id: HP:0009147
name: Enlarged epiphysis of the distal phalanx of the 5th finger
def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlarged end part of the outermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Enlarged end part of the outermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Enlarged end part of the outermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024572
is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger
is_a: HP:0009385 ! Enlarged epiphyses of the 5th finger
is_a: HP:0010249 ! Enlarged epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-22T01:39:32Z

[Term]
id: HP:0009148
name: Small epiphysis of the distal phalanx of the 5th finger
def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small end part of the outermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Small end part of the outermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Small end part of the outermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024571
is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger
is_a: HP:0009390 ! Small epiphyses of the 5th finger
is_a: HP:0010254 ! Small epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-22T01:40:08Z

[Term]
id: HP:0009149
name: Triangular epiphysis of the distal phalanx of the 5th finger
alt_id: HP:0009137
def: "A triangular appearance of the epiphysis of the distal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [https://orcid.org/0000-0002-0736-9199]
synonym: "Delta-shaped epiphysis of the distal phalanx of the 5th finger" EXACT []
synonym: "Triangular end part of the outermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Triangular end part of the outermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Triangular end part of the outermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021519
is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger
is_a: HP:0009392 ! Triangular epiphyses of the 5th finger
is_a: HP:0010256 ! Triangular epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-22T01:40:48Z

[Term]
id: HP:0009150
name: Abnormality of the proximal phalanx of the 5th finger
def: "Abnormality of the proximal phalanx of the little (5th) finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the innermost bone little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the innermost bone pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the innermost bone pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024570
is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-22T02:00:20Z

[Term]
id: HP:0009152
name: Abnormality of the epiphyses of the 5th finger
def: "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger." [https://orcid.org/0009-0006-4530-3154]
synonym: "Abnormality of end part of little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of end part of pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of end part of pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024569
is_a: HP:0004207 ! Abnormal 5th finger morphology
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-22T02:07:27Z

[Term]
id: HP:0009153
name: Abnormality of the epiphysis of the proximal phalanx of the 5th finger
def: "Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of end part of the innermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of end part of the innermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of end part of the innermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024568
is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger
is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger
is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-22T05:47:42Z

[Term]
id: HP:0009154
name: Triangular epiphysis of the proximal phalanx of the 5th finger
alt_id: HP:0009156
def: "A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [https://orcid.org/0000-0002-0736-9199]
synonym: "Delta-shaped epiphysis of the proximal phalanx of the 5th finger" EXACT layperson []
synonym: "Triangular end part of the innermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Triangular end part of the innermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Triangular end part of the innermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021518
is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger
is_a: HP:0009392 ! Triangular epiphyses of the 5th finger
is_a: HP:0010278 ! Triangular epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-22T05:50:39Z

[Term]
id: HP:0009155
name: Cone-shaped epiphysis of the proximal phalanx of the 5th finger
def: "A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Angel-shaped epiphysis of the proximal phalanx of the 5th finger" RELATED []
synonym: "Cone-shaped end part of the innermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Cone-shaped end part of the innermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Cone-shaped end part of the innermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Cone-shaped epiphysis of the proximal phalanx of the little finger" RELATED []
xref: UMLS:C4020783
xref: UMLS:C4020784
is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger
is_a: HP:0009384 ! Cone-shaped epiphyses of the 5th finger
is_a: HP:0010270 ! Cone-shaped epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-22T05:50:39Z

[Term]
id: HP:0009157
name: Ivory epiphysis of the proximal phalanx of the 5th finger
def: "Sclerosis of the epiphysis of the proximal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased bone density of end part of the innermost bone of little finger" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Increased bone density of end part of the innermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Increased bone density of end part of the innermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Ivory epiphysis of the proximal phalanx of the little finger" RELATED layperson []
xref: UMLS:C4020782
xref: UMLS:C4024567
is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger
is_a: HP:0009388 ! Ivory epiphyses of the 5th finger
is_a: HP:0010274 ! Ivory epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-22T05:50:39Z

[Term]
id: HP:0009158
name: Enlarged epiphysis of the proximal phalanx of the 5th finger
def: "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlarged end part of the innermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Enlarged end part of the innermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Enlarged end part of the innermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024566
is_a: HP:0009385 ! Enlarged epiphyses of the 5th finger
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-22T05:50:39Z

[Term]
id: HP:0009159
name: Small epiphysis of the proximal phalanx of the 5th finger
def: "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small end part of the innermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Small end part of the innermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Small end part of the innermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024565
is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger
is_a: HP:0009390 ! Small epiphyses of the 5th finger
is_a: HP:0010276 ! Small epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-22T05:50:39Z

[Term]
id: HP:0009160
name: Absent epiphysis of the proximal phalanx of the 5th finger
def: "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent end part of the innermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent end part of the innermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent end part of the innermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024564
is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger
is_a: HP:0009382 ! Absent epiphyses of the 5th finger
is_a: HP:0010268 ! Absent epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-22T05:50:39Z

[Term]
id: HP:0009161
name: Aplasia/Hypoplasia of the middle phalanx of the 5th finger
alt_id: HP:0006242
def: "Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/hypoplastic middle phalanx of 5th finger" EXACT []
synonym: "Absent/small middle bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped middle bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped middle bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped middle bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1834034
is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger
is_a: HP:0009376 ! Aplasia/Hypoplasia of the phalanges of the 5th finger
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-22T05:55:56Z

[Term]
id: HP:0009162
name: Absent middle phalanx of 5th finger
alt_id: HP:0005774
def: "Absence of the middle phalanx of the little (5th) finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent middle bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent middle bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent middle bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Aplasia of the middle phalanx of the 5th finger" EXACT []
xref: UMLS:C3277750
is_a: HP:0009161 ! Aplasia/Hypoplasia of the middle phalanx of the 5th finger
is_a: HP:0009238 ! Aplasia of the 5th finger
is_a: HP:0010239 ! Aplasia of the middle phalanx of the hand
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-22T06:08:40Z

[Term]
id: HP:0009163
name: obsolete Abnormal form of the 5th finger
is_obsolete: true
consider: HP:0004207

[Term]
id: HP:0009164
name: Abnormal calcification of the carpal bones
alt_id: HP:0006154
synonym: "Abnormal calcification of the wrist bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Carpal calcifications" EXACT []
xref: UMLS:C1968592
is_a: HP:0006257 ! Abnormality of carpal bone ossification
is_a: HP:0010766 ! Ectopic calcification
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-22T06:53:39Z

[Term]
id: HP:0009165
name: Stippling of the epiphysis of the distal phalanx of the 5th finger
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Speckled calcifications in end part of the outermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Speckled calcifications in end part of the outermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Speckled calcifications in end part of the outermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024563
is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger
is_a: HP:0009391 ! Stippling of the epiphyses of the 5th finger
is_a: HP:0010255 ! Stippling of the epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-29T02:07:42Z

[Term]
id: HP:0009166
name: Fragmentation of the epiphysis of the distal phalanx of the 5th finger
def: "Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fragmentation of end part of the outermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Fragmentation of end part of the outermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Fragmentation of end part of the outermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024562
is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger
is_a: HP:0009386 ! Fragmentation of the epiphyses of the 5th finger
is_a: HP:0010250 ! Fragmentation of the epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-29T02:14:33Z

[Term]
id: HP:0009167
name: Irregular epiphysis of the distal phalanx of the 5th finger
def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular end part of the outermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Irregular end part of the outermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Irregular end part of the outermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024561
is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger
is_a: HP:0009387 ! Irregular epiphyses of the 5th finger
is_a: HP:0010251 ! Irregular epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-29T02:18:06Z

[Term]
id: HP:0009168
name: Bullet-shaped middle phalanx of the 5th finger
def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped middle little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Bullet-shaped middle pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Bullet-shaped middle pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024560
is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger
is_a: HP:0009375 ! Bullet-shaped phalanges of the 5th finger
is_a: HP:0009845 ! Bullet-shaped middle phalanges of the hand
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-29T02:44:53Z

[Term]
id: HP:0009169
name: Broad middle phalanx of the 5th finger
def: "Increased width of the middle phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad middle bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Broad middle bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Broad middle bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Wide middle phalanx of the 5th finger" EXACT []
xref: UMLS:C4021517
is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger
is_a: HP:0009374 ! Broad phalanges of the 5th finger
is_a: HP:0009844 ! Broad middle phalanx of finger
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-29T02:49:04Z

[Term]
id: HP:0009170
name: Osteolytic defects of the middle phalanx of the 5th finger
def: "Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024559
is_a: HP:0004216 ! Osteolytic defects of the phalanges of the 5th finger
is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger
is_a: HP:0009847 ! Osteolytic defects of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-29T02:51:32Z

[Term]
id: HP:0009171
name: Triangular epiphyses of the metacarpals
def: "A triangular appearance of the epiphyses of the metacarpals. These epiphyses are located at the distal end of the metacarpals." [https://orcid.org/0000-0002-0736-9199]
synonym: "Triangular end part of the long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4024558
is_a: HP:0005913 ! Abnormal metacarpal epiphysis morphology
is_a: HP:0010587 ! Triangular epiphysis
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2008-12-30T02:03:34Z

[Term]
id: HP:0009172
name: Abnormal 4th finger phalanx morphology
alt_id: HP:0004191
def: "Abnormality of the phalanges of the 4th (ring) finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal bones of 4th finger" EXACT layperson []
synonym: "Abnormality of the phalanges of the ring finger" EXACT []
xref: UMLS:C4021516
is_a: HP:0004188 ! Abnormal 4th finger morphology
is_a: HP:0005918 ! Abnormal finger phalanx morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T04:18:24Z

[Term]
id: HP:0009173
name: Curved middle phalanx of the 5th finger
def: "Curved appearance of the middle phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curved middle bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Curved middle bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Curved middle bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4024557
is_a: HP:0004214 ! Curved phalanges of the 5th finger
is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger
is_a: HP:0009846 ! Curved middle phalanges of the hand
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-29T03:05:04Z

[Term]
id: HP:0009174
name: Abnormality of the epiphyses of the 4th finger
def: "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the end part of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4024556
is_a: HP:0004188 ! Abnormal 4th finger morphology
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T04:23:43Z

[Term]
id: HP:0009175
name: Patchy sclerosis of the middle phalanx of the 5th finger
def: "Patchy increase in bone density of the middle phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Uneven increase in bone density in the middle bone of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Uneven increase in bone density in the middle bone of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Uneven increase in bone density in the middle bone of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024555
is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger
is_a: HP:0009377 ! Patchy sclerosis of 5th finger phalanx
is_a: HP:0009848 ! Patchy sclerosis of middle phalanx of finger
is_a: HP:0100907 ! Sclerosis of the middle phalanx of the 5th finger
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-29T03:10:34Z

[Term]
id: HP:0009177
name: Proximal/middle symphalangism of 5th finger
alt_id: HP:0005835
alt_id: HP:0006025
alt_id: HP:0009235
def: "Fusion of the proximal and middle phalanges of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fused innermost and middle bones of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Fused innermost and middle bones of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Fused innermost and middle bones of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Proximal 5th finger symphalangism" EXACT []
synonym: "Proximal fifth finger symphalangism" EXACT []
synonym: "Symphalangism of the proximal and middle phalanges of the 5th finger" EXACT []
xref: UMLS:C1836212
is_a: HP:0006152 ! Proximal symphalangism of hands
is_a: HP:0009178 ! Symphalangism of middle phalanx of 5th finger
is_a: HP:0009232 ! Symphalangism affecting the proximal phalanx of the 5th finger
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-29T03:17:08Z

[Term]
id: HP:0009178
name: Symphalangism of middle phalanx of 5th finger
def: "Fusion of the middle phalanx of the 5th finger with another bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fused middle bones of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Fused middle bones of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Fused middle bones of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024554
is_a: HP:0004218 ! Symphalangism of the 5th finger
is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger
is_a: HP:0009849 ! Symphalangism of middle phalanx of finger
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-29T03:17:43Z

[Term]
id: HP:0009179
name: Deviation of the 5th finger
alt_id: HP:0006036
def: "Displacement of the 5th finger from its normal position." [https://orcid.org/0009-0006-4530-3154]
synonym: "Displaced little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Displaced pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Displaced pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Laterally displaced fifth finger" EXACT []
xref: UMLS:C4021515
is_a: HP:0004097 ! Deviation of finger
is_a: HP:0004207 ! Abnormal 5th finger morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-29T03:29:20Z

[Term]
id: HP:0009180
name: Ulnar deviation of the 5th finger
def: "Displacement of the 5th finger towards the ulnar side." [https://orcid.org/0009-0006-4530-3154]
xref: UMLS:C4024553
is_a: HP:0009179 ! Deviation of the 5th finger
is_a: HP:0009465 ! Ulnar deviation of finger
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-29T03:30:05Z

[Term]
id: HP:0009182
name: Triangular shaped middle phalanx of the 5th finger
def: "Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Triangular shaped middle little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Triangular shaped middle pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Triangular shaped middle pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024552
is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger
is_a: HP:0009378 ! Triangular shaped phalanges of the 5th finger
is_a: HP:0009850 ! Triangular shaped middle phalanges of the hand
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-29T04:05:33Z

[Term]
id: HP:0009183
name: Joint contracture of the 5th finger
alt_id: HP:0001184
def: "Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected." [https://orcid.org/0009-0006-4530-3154]
synonym: "5th finger camptodactyly" RELATED []
synonym: "Fifth finger camptodactyly" RELATED []
xref: UMLS:C1865702
is_a: HP:0004207 ! Abnormal 5th finger morphology
is_a: HP:0012785 ! Flexion contracture of finger
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-29T04:11:30Z

[Term]
id: HP:0009184
name: Contracture of the distal interphalangeal joint of the 5th finger
def: "Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024551
is_a: HP:0009183 ! Joint contracture of the 5th finger
is_a: HP:0009697 ! Contracture of the distal interphalangeal joint of the fingers
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-29T04:16:15Z

[Term]
id: HP:0009185
name: Contracture of the proximal interphalangeal joint of the 5th finger
alt_id: HP:0005047
alt_id: HP:0006062
def: "Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement." [https://orcid.org/0000-0002-0736-9199]
synonym: "Camptodactyly of 5th finger" EXACT []
synonym: "Camptodactyly of the fifth finger" EXACT []
xref: UMLS:C3554612
is_a: HP:0009183 ! Joint contracture of the 5th finger
is_a: HP:0100490 ! Camptodactyly of finger
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-29T04:16:58Z

[Term]
id: HP:0009186
name: Contracture of the metacarpophalangeal joint of the 5th finger
def: "Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024550
is_a: HP:0009183 ! Joint contracture of the 5th finger
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-12-29T04:18:00Z

[Term]
id: HP:0009187
name: Bracket epiphysis of the distal phalanx of the 5th finger
def: "An abnormality of the distal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bracket shaped end part of the outermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Bracket shaped end part of the outermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Bracket shaped end part of the outermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024549
is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger
is_a: HP:0009383 ! Bracket epiphyses of the 5th finger
is_a: HP:0010247 ! Bracket epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2008-12-30T12:07:32Z

[Term]
id: HP:0009188
name: Pseudoepiphysis of the distal phalanx of the 5th finger
def: "A secondary ossification center in the distal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024548
is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger
is_a: HP:0009389 ! Pseudoepiphyses of the 5th finger
is_a: HP:0010253 ! Pseudoepiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2008-12-30T12:28:19Z

[Term]
id: HP:0009189
name: Fragmentation of the metacarpal epiphyses
def: "Fragmented appearance of the epiphyses of the metacarpals." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fragmentation of end part of the long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024547
is_a: HP:0003841 ! Fragmented epiphyses of the upper limbs
is_a: HP:0005913 ! Abnormal metacarpal epiphysis morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2008-12-30T02:03:34Z

[Term]
id: HP:0009190
name: Irregular epiphyses of the metacarpals
def: "Irregular radiographic opacity of the epiphyses of the metacarpals." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular end part of the long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024546
is_a: HP:0003842 ! Irregular epiphyses of the upper limbs
is_a: HP:0005913 ! Abnormal metacarpal epiphysis morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2008-12-30T02:03:34Z

[Term]
id: HP:0009191
name: Ivory epiphyses of the metacarpals
def: "Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased bone density of end part of the long bone of hands" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024545
is_a: HP:0005913 ! Abnormal metacarpal epiphysis morphology
is_a: HP:0010583 ! Ivory epiphyses
is_a: HP:0011001 ! Increased bone mineral density
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2008-12-30T02:03:34Z

[Term]
id: HP:0009192
name: Aplasia/Hypoplasia of the proximal phalanx of the 5th finger
def: "Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small innermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/small innermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/small innermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped innermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024544
is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger
is_a: HP:0009376 ! Aplasia/Hypoplasia of the phalanges of the 5th finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T05:57:28Z

[Term]
id: HP:0009193
name: Metacarpal pseudoepiphysis
alt_id: HP:0006091
alt_id: HP:0006164
def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone." [https://orcid.org/0009-0006-4530-3154]
synonym: "Accessory proximal metacarpal ossification centers" EXACT []
synonym: "Accessory proximal metacarpal ossification centres" EXACT uk_spelling []
synonym: "Metacarpal pseudoepiphyses" EXACT []
synonym: "Pseudoepiphyses of the metacarpals" EXACT []
xref: UMLS:C1860253
is_a: HP:0004288 ! Pseudoepiphyses of hand bones
is_a: HP:0005913 ! Abnormal metacarpal epiphysis morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2008-12-30T02:03:34Z

[Term]
id: HP:0009194
name: Small epiphyses of the metacarpals
def: "Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small end part of the long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024543
is_a: HP:0005913 ! Abnormal metacarpal epiphysis morphology
is_a: HP:0010585 ! Small epiphyses
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2008-12-30T02:03:34Z

[Term]
id: HP:0009195
name: Epiphyseal stippling of the metacarpals
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the metacarpals." [https://orcid.org/0000-0002-0736-9199]
synonym: "Speckled calcifications in end part of the long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Stippling of the epiphyses of the metacarpals" EXACT []
xref: UMLS:C4021514
is_a: HP:0005913 ! Abnormal metacarpal epiphysis morphology
is_a: HP:0010655 ! Epiphyseal stippling
is_a: HP:0010660 ! Abnormal hand bone ossification
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2008-12-30T02:03:34Z

[Term]
id: HP:0009196
name: Absent metacarpal epiphyses
alt_id: HP:0006013
def: "Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent end part of the long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent metacarpal ossification center" EXACT []
synonym: "Absent metacarpal ossification centre" EXACT uk_spelling []
xref: UMLS:C4021513
is_a: HP:0005913 ! Abnormal metacarpal epiphysis morphology
is_a: HP:0010577 ! Absent epiphyses
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2008-12-30T02:03:34Z

[Term]
id: HP:0009197
name: Bracket epiphysis of the proximal phalanx of the 5th finger
def: "An abnormality of the proximal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bracket shaped end part of the innermost bone of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Bracket shaped end part of the innermost bone of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Bracket shaped end part of the innermost bone of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024542
is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger
is_a: HP:0009383 ! Bracket epiphyses of the 5th finger
is_a: HP:0010269 ! Bracket epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T05:05:01Z

[Term]
id: HP:0009198
name: Abnormality of the epiphysis of the distal phalanx of the 5th finger
alt_id: HP:0004228
def: "Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of end part of the outermost bone of the little finger" EXACT layperson []
synonym: "Abnormality of end part of the outermost bone of the pinkie finger" EXACT layperson []
synonym: "Abnormality of end part of the outermost bone of the pinky finger" EXACT layperson []
synonym: "Abnormality of the epiphysis of the terminal phalanx of the little finger" EXACT []
xref: UMLS:C4021512
is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger
is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger
is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T04:41:32Z

[Term]
id: HP:0009199
name: Irregular epiphysis of the proximal phalanx of the 5th finger
def: "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular end part of the innermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Irregular end part of the innermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Irregular end part of the innermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024541
is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger
is_a: HP:0009387 ! Irregular epiphyses of the 5th finger
is_a: HP:0010273 ! Irregular epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T05:09:06Z

[Term]
id: HP:0009200
name: Pseudoepiphysis of the proximal phalanx of the 5th finger
def: "A secondary ossification center in the proximal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024540
is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger
is_a: HP:0009389 ! Pseudoepiphyses of the 5th finger
is_a: HP:0010275 ! Pseudoepiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T05:10:13Z

[Term]
id: HP:0009201
name: Stippling of the epiphysis of the proximal phalanx of the 5th finger
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Speckled calcifications in end part of the innnermost bone of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Speckled calcifications in end part of the innnermost bone of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Speckled calcifications in end part of the innnermost bone of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024539
is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger
is_a: HP:0009391 ! Stippling of the epiphyses of the 5th finger
is_a: HP:0010277 ! Stippling of the epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T05:11:42Z

[Term]
id: HP:0009202
name: Fragmentation of the epiphysis of the proximal phalanx of the 5th finger
def: "Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fragmentation of end part of the innermost bone of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Fragmentation of end part of the innermost bone of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Fragmentation of end part of the innermost bone of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024538
is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger
is_a: HP:0009386 ! Fragmentation of the epiphyses of the 5th finger
is_a: HP:0010272 ! Fragmentation of the epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T05:13:41Z

[Term]
id: HP:0009203
name: Absent epiphysis of the middle phalanx of the 5th finger
def: "Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent end part of the middle bone of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent end part of the middle bone of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent end part of the middle bone of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024537
is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger
is_a: HP:0009382 ! Absent epiphyses of the 5th finger
is_a: HP:0010257 ! Absent epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T05:22:18Z

[Term]
id: HP:0009204
name: Bracket epiphysis of the middle phalanx of the 5th finger
def: "An abnormality of the middle phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bracket shaped end part of the middle bone of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Bracket shaped end part of the middle bone of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Bracket shaped end part of the middle bone of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024536
is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger
is_a: HP:0009383 ! Bracket epiphyses of the 5th finger
is_a: HP:0010258 ! Bracket epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T05:22:18Z

[Term]
id: HP:0009205
name: Cone-shaped epiphysis of the middle phalanx of the 5th finger
def: "A cone-shaped appearance of the epiphysis of the middle phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cone-shaped end part of the middle bone of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Cone-shaped end part of the middle bone of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Cone-shaped end part of the middle bone of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024535
is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger
is_a: HP:0009384 ! Cone-shaped epiphyses of the 5th finger
is_a: HP:0010259 ! Cone-shaped epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T05:22:18Z

[Term]
id: HP:0009206
name: Enlarged epiphysis of the middle phalanx of the 5th finger
def: "Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlarged end part of the middle bone of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Enlarged end part of the middle bone of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Enlarged end part of the middle bone of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024534
is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger
is_a: HP:0009385 ! Enlarged epiphyses of the 5th finger
is_a: HP:0010260 ! Enlarged epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T05:22:18Z

[Term]
id: HP:0009207
name: Fragmentation of the epiphysis of the middle phalanx of the 5th finger
def: "Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fragmentation of end part of the middle bone of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Fragmentation of end part of the middle bone of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Fragmentation of end part of the middle bone of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024533
is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger
is_a: HP:0009386 ! Fragmentation of the epiphyses of the 5th finger
is_a: HP:0010261 ! Fragmentation of the epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T05:22:18Z

[Term]
id: HP:0009208
name: Irregular epiphysis of the middle phalanx of the 5th finger
def: "Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular end part of the middle bone of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Irregular end part of the middle bone of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Irregular end part of the middle bone of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024532
is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger
is_a: HP:0009387 ! Irregular epiphyses of the 5th finger
is_a: HP:0010262 ! Irregular epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T05:22:18Z

[Term]
id: HP:0009209
name: Ivory epiphysis of the middle phalanx of the 5th finger
def: "Sclerosis of the epiphysis of the middle phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased bone density of end part of the middle bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Increased bone density of end part of the middle bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Increased bone density of end part of the middle bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024531
is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger
is_a: HP:0009388 ! Ivory epiphyses of the 5th finger
is_a: HP:0010263 ! Ivory epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T05:22:18Z

[Term]
id: HP:0009210
name: Pseudoepiphysis of the middle phalanx of the 5th finger
def: "A secondary ossification center in the middle phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024530
is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger
is_a: HP:0009389 ! Pseudoepiphyses of the 5th finger
is_a: HP:0010264 ! Pseudoepiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T05:22:18Z

[Term]
id: HP:0009211
name: Small epiphysis of the middle phalanx of the 5th finger
def: "Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small end part of the middle bone of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Small end part of the middle bone of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Small end part of the middle bone of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024529
is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger
is_a: HP:0009390 ! Small epiphyses of the 5th finger
is_a: HP:0010265 ! Small epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T05:22:18Z

[Term]
id: HP:0009212
name: Stippling of the epiphysis of the middle phalanx of the 5th finger
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Speckled calcifications in end part of the middle bone of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Speckled calcifications in end part of the middle bone of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Speckled calcifications in end part of the middle bone of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024528
is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger
is_a: HP:0009391 ! Stippling of the epiphyses of the 5th finger
is_a: HP:0010266 ! Stippling of the epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T05:22:18Z

[Term]
id: HP:0009213
name: Triangular epiphysis of the middle phalanx of the 5th finger
def: "A triangular appearance of the epiphysis of the middle phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [https://orcid.org/0000-0002-0736-9199]
synonym: "Delta-shaped epiphysis of the middle phalanx of the 5th finger" EXACT []
synonym: "Triangular end part of the middle bone of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Triangular end part of the middle bone of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Triangular end part of the middle bone of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021511
is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger
is_a: HP:0009392 ! Triangular epiphyses of the 5th finger
is_a: HP:0010267 ! Triangular epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T05:22:18Z

[Term]
id: HP:0009214
name: Absent epiphysis of the middle phalanx of the 4th finger
def: "Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent end part of the middle bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024527
is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger
is_a: HP:0009393 ! Absent epiphyses of the 4th finger
is_a: HP:0010257 ! Absent epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T05:23:59Z

[Term]
id: HP:0009215
name: Bracket epiphysis of the middle phalanx of the 4th finger
def: "An abnormality of the middle phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bracket shaped end part of the middle bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024526
is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger
is_a: HP:0009394 ! Bracket epiphyses of the 4th finger
is_a: HP:0010258 ! Bracket epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T05:23:59Z

[Term]
id: HP:0009216
name: Cone-shaped epiphysis of the middle phalanx of the 4th finger
def: "A cone-shaped appearance of the epiphysis of the middle phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cone-shaped end part of the middle bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024525
is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger
is_a: HP:0009395 ! Cone-shaped epiphyses of the 4th finger
is_a: HP:0010259 ! Cone-shaped epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T05:23:59Z

[Term]
id: HP:0009217
name: Enlarged epiphysis of the middle phalanx of the 4th finger
def: "Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlarged end part of the middle bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024524
is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger
is_a: HP:0009396 ! Enlarged epiphyses of the 4th finger
is_a: HP:0010260 ! Enlarged epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T05:23:59Z

[Term]
id: HP:0009218
name: Fragmentation of the epiphysis of the middle phalanx of the 4th finger
def: "Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fragmentation of end part of the middle bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024523
is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger
is_a: HP:0009397 ! Fragmentation of the epiphyses of the 4th finger
is_a: HP:0010261 ! Fragmentation of the epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T05:23:59Z

[Term]
id: HP:0009219
name: Irregular epiphysis of the middle phalanx of the 4th finger
def: "Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular end part of the middle bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024522
is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger
is_a: HP:0009398 ! Irregular epiphyses of the 4th finger
is_a: HP:0010262 ! Irregular epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T05:23:59Z

[Term]
id: HP:0009220
name: Ivory epiphysis of the middle phalanx of the 4th finger
def: "Sclerosis of the epiphysis of the middle phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased bone density of end part of the middle ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024521
is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger
is_a: HP:0009399 ! Ivory epiphyses of the 4th finger
is_a: HP:0010263 ! Ivory epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T05:23:59Z

[Term]
id: HP:0009221
name: Pseudoepiphysis of the middle phalanx of the 4th finger
def: "A secondary ossification center in the middle phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024520
is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger
is_a: HP:0009400 ! Pseudoepiphyses of the 4th finger
is_a: HP:0010264 ! Pseudoepiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T05:23:59Z

[Term]
id: HP:0009222
name: Small epiphysis of the middle phalanx of the 4th finger
def: "Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small end part of the middle bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024519
is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger
is_a: HP:0009401 ! Small epiphyses of the 4th finger
is_a: HP:0010265 ! Small epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T05:23:59Z

[Term]
id: HP:0009223
name: Stippling of the epiphysis of the middle phalanx of the 4th finger
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Speckled calcifications in end part of the middle bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024518
is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger
is_a: HP:0009402 ! Stippling of the epiphyses of the 4th finger
is_a: HP:0010266 ! Stippling of the epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T05:23:59Z

[Term]
id: HP:0009224
name: Triangular epiphysis of the middle phalanx of the 4th finger
def: "A triangular appearance of the epiphysis of the middle phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [https://orcid.org/0000-0002-0736-9199]
synonym: "Delta-shaped epiphysis of the middle phalanx of the 4th finger" EXACT []
synonym: "Triangular end part of the middle bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021510
is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger
is_a: HP:0009403 ! Triangular epiphyses of the 4th finger
is_a: HP:0010267 ! Triangular epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T05:23:59Z

[Term]
id: HP:0009225
name: Aplasia of the proximal phalanx of the 5th finger
def: "Absence of the proximal phalanx of the little (5th) finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent innermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent innermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent innermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024517
is_a: HP:0009192 ! Aplasia/Hypoplasia of the proximal phalanx of the 5th finger
is_a: HP:0009238 ! Aplasia of the 5th finger
is_a: HP:0010242 ! Aplasia of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T06:00:33Z

[Term]
id: HP:0009226
name: Short proximal phalanx of the 5th finger
def: "Hypoplastic/small proximal phalanx of the fifth finger." [https://orcid.org/0000-0002-5316-1399]
synonym: "Hypoplastic/small proximal phalanx of the 5th finger" EXACT []
synonym: "Short innermost little finger bone" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Short innermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Short innermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Short proximal phalanx of the fifth finger" EXACT layperson []
xref: UMLS:C4021509
is_a: HP:0009192 ! Aplasia/Hypoplasia of the proximal phalanx of the 5th finger
is_a: HP:0009237 ! Short 5th finger
is_a: HP:0010241 ! Short proximal phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T06:01:34Z

[Term]
id: HP:0009227
name: Broad proximal phalanx of the 5th finger
def: "Increased width of the proximal phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad innermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Broad innermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Broad innermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Wide proximal phalanx of the 5th finger" EXACT []
xref: UMLS:C4021508
is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger
is_a: HP:0009374 ! Broad phalanges of the 5th finger
is_a: HP:0009852 ! Broad proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T06:11:33Z

[Term]
id: HP:0009228
name: Bullet-shaped proximal phalanx of the 5th finger
def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 5th finger is affected." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped innermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Bullet-shaped innermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Bullet-shaped innermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024516
is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger
is_a: HP:0009375 ! Bullet-shaped phalanges of the 5th finger
is_a: HP:0009853 ! Bullet-shaped proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T06:11:33Z

[Term]
id: HP:0009229
name: Curved proximal phalanx of the 5th finger
def: "Curved appearance of the proximal phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curved innermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Curved innermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Curved innermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024515
is_a: HP:0004214 ! Curved phalanges of the 5th finger
is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger
is_a: HP:0009854 ! Curved proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T06:11:33Z

[Term]
id: HP:0009230
name: Osteolytic defects of the proximal phalanx of the 5th finger
def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024514
is_a: HP:0004216 ! Osteolytic defects of the phalanges of the 5th finger
is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger
is_a: HP:0009855 ! Osteolytic defects of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T06:11:33Z

[Term]
id: HP:0009231
name: Patchy sclerosis of the proximal phalanx of the 5th finger
def: "Patchy increase in bone density of the proximal phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Uneven increase in bone density in the innermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Uneven increase in bone density in the innermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Uneven increase in bone density in the innermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024513
is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger
is_a: HP:0009377 ! Patchy sclerosis of 5th finger phalanx
is_a: HP:0009856 ! Patchy sclerosis of proximal phalanx of finger
is_a: HP:0100911 ! Sclerosis of the proximal phalanx of the 5th finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T06:11:33Z

[Term]
id: HP:0009232
name: Symphalangism affecting the proximal phalanx of the 5th finger
def: "Fusion of the proximal phalanx of the 5th finger with another bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fused innermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Fused innermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Fused innermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024512
is_a: HP:0004218 ! Symphalangism of the 5th finger
is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger
is_a: HP:0009857 ! Symphalangism affecting the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T06:11:33Z

[Term]
id: HP:0009233
name: Triangular shaped proximal phalanx of the 5th finger
def: "Triangular shaped proximal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [PMID:24432108]
synonym: "Triangular shaped innermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Triangular shaped innermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Triangular shaped innermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024511
is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger
is_a: HP:0009378 ! Triangular shaped phalanges of the 5th finger
is_a: HP:0009858 ! Triangular shaped proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T06:11:33Z

[Term]
id: HP:0009234
name: Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal
def: "Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fused innermost bone of little finger with 5th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Fused innermost bone of pinkie finger with 5th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Fused innermost bone of pinky finger with 5th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024510
is_a: HP:0005880 ! Metacarpophalangeal synostosis
is_a: HP:0009232 ! Symphalangism affecting the proximal phalanx of the 5th finger
is_a: HP:0009708 ! Synostosis involving the 5th metacarpal
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T06:19:01Z

[Term]
id: HP:0009236
name: Rhomboid or triangular shaped 5th finger proximal phalanx
def: "Rhomboid or triangular shaped 5th (little) finger proximal phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Rhomboid or triangular shaped innermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Rhomboid or triangular shaped innermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Rhomboid or triangular shaped innermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024509
is_a: HP:0009233 ! Triangular shaped proximal phalanx of the 5th finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T06:20:38Z

[Term]
id: HP:0009237
name: Short 5th finger
alt_id: HP:0001205
alt_id: HP:0004208
alt_id: HP:0004210
alt_id: HP:0004211
alt_id: HP:0004215
alt_id: HP:0004217
alt_id: HP:0005804
alt_id: HP:0005888
def: "Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger." [https://orcid.org/0009-0006-4530-3154]
synonym: "Fifth finger brachydactyly" EXACT []
synonym: "Hypoplastic phalanges of the little finger" EXACT []
synonym: "Hypoplastic/small 5th finger" EXACT []
synonym: "Hypoplastic/small little finger" EXACT []
synonym: "Short 5th finger" EXACT layperson []
synonym: "Short fifth finger" EXACT layperson []
synonym: "Short fifth fingers" EXACT layperson []
synonym: "Short little finger" EXACT layperson []
synonym: "Short phalanges of the little finger" EXACT []
synonym: "Short pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Short pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1842878
is_a: HP:0006262 ! Aplasia/Hypoplasia of the 5th finger
is_a: HP:0009381 ! Short finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T06:54:07Z

[Term]
id: HP:0009238
name: Aplasia of the 5th finger
def: "Absent 5th (little) finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024508
is_a: HP:0006262 ! Aplasia/Hypoplasia of the 5th finger
is_a: HP:0009380 ! Finger aplasia
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T07:02:48Z

[Term]
id: HP:0009239
name: Aplasia/Hypoplasia of the distal phalanx of the 5th finger
synonym: "Absent/small outermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/small outermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/small outermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped outermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024507
is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger
is_a: HP:0009376 ! Aplasia/Hypoplasia of the phalanges of the 5th finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T07:25:50Z

[Term]
id: HP:0009240
name: Broad distal phalanx of the 5th finger
def: "Increased width of the distal phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad outermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Broad outermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Broad outermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Wide outermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024506
is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger
is_a: HP:0009374 ! Broad phalanges of the 5th finger
is_a: HP:0009836 ! Broad distal phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T07:25:50Z

[Term]
id: HP:0009241
name: Bullet-shaped distal phalanx of the 5th finger
def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped outermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Bullet-shaped outermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Bullet-shaped outermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024505
is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger
is_a: HP:0009375 ! Bullet-shaped phalanges of the 5th finger
is_a: HP:0009837 ! Bullet-shaped distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T07:25:50Z

[Term]
id: HP:0009242
name: Osteolytic defects of the distal phalanx of the 5th finger
def: "Dissolution or degeneration of bone tissue of the distal phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024504
is_a: HP:0004216 ! Osteolytic defects of the phalanges of the 5th finger
is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger
is_a: HP:0009839 ! Osteolytic defects of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T07:25:50Z

[Term]
id: HP:0009243
name: Patchy sclerosis of the distal phalanx of the 5th finger
def: "Patchy increase in bone density of the distal phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Uneven increase in bone density in the outermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Uneven increase in bone density in the outermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Uneven increase in bone density in the outermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024503
is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger
is_a: HP:0009377 ! Patchy sclerosis of 5th finger phalanx
is_a: HP:0009840 ! Patchy sclerosis of distal phalanx of finger
is_a: HP:0100903 ! Sclerosis of the distal phalanx of the 5th finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T07:25:50Z

[Term]
id: HP:0009244
name: Distal/middle symphalangism of 5th finger
alt_id: HP:0006250
alt_id: HP:0009176
def: "Fusion of the terminal/distal and middle phalanges of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fifth finger distal interphalangeal joint symphalangism" EXACT []
synonym: "Fused end and middle bones of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Fused end and middle bones of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Fused end and middle bones of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Fusion of the terminal and middle phalanges of the 5th finger" RELATED layperson []
synonym: "Symphalangism of the distal and middle phalanges of the 5th finger" EXACT []
synonym: "Symphalangism of the terminal and middle phalanges of the 5th finger" EXACT []
xref: UMLS:C1868573
xref: UMLS:C4020781
is_a: HP:0001204 ! Distal symphalangism of hands
is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger
is_a: HP:0009178 ! Symphalangism of middle phalanx of 5th finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T07:25:50Z

[Term]
id: HP:0009245
name: Triangular shaped distal phalanx of the 5th finger
def: "Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Triangular shaped outermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Triangular shaped outermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Triangular shaped outermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024502
is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger
is_a: HP:0009378 ! Triangular shaped phalanges of the 5th finger
is_a: HP:0009875 ! Triangular shaped distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T07:25:50Z

[Term]
id: HP:0009246
name: Aplasia of the distal phalanx of the 5th finger
def: "Absence of the distal phalanx of the little (5th) finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent outermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent outermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent outermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024501
is_a: HP:0009238 ! Aplasia of the 5th finger
is_a: HP:0009239 ! Aplasia/Hypoplasia of the distal phalanx of the 5th finger
is_a: HP:0009881 ! Aplasia of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-05T07:27:52Z

[Term]
id: HP:0009247
name: Abnormality of the epiphysis of the middle phalanx of the 4th finger
synonym: "Abnormality of the end part of the middle bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024500
is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger
is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger
is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T11:29:14Z

[Term]
id: HP:0009248
name: Abnormality of the epiphysis of the proximal phalanx of the 4th finger
synonym: "Abnormality of the end part of the innermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024499
is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger
is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger
is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T12:04:09Z

[Term]
id: HP:0009249
name: Abnormality of the epiphysis of the distal phalanx of the 4th finger
synonym: "Abnormality of the end part of the outermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024498
is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger
is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger
is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T12:04:09Z

[Term]
id: HP:0009250
name: Absent epiphysis of the distal phalanx of the 4th finger
def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent end part of the outermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024497
is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger
is_a: HP:0009393 ! Absent epiphyses of the 4th finger
is_a: HP:0010246 ! Absent epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T12:07:34Z

[Term]
id: HP:0009251
name: Bracket epiphysis of the distal phalanx of the 4th finger
def: "An abnormality of the distal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bracket shaped end part of the outermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024496
is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger
is_a: HP:0009394 ! Bracket epiphyses of the 4th finger
is_a: HP:0010247 ! Bracket epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T12:07:34Z

[Term]
id: HP:0009252
name: Cone-shaped epiphysis of the distal phalanx of the 4th finger
def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cone-shaped end part of the outermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024495
is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger
is_a: HP:0009395 ! Cone-shaped epiphyses of the 4th finger
is_a: HP:0010248 ! Cone-shaped epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T12:07:34Z

[Term]
id: HP:0009253
name: Enlarged epiphysis of the distal phalanx of the 4th finger
def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlarged end part of the outermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024494
is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger
is_a: HP:0009396 ! Enlarged epiphyses of the 4th finger
is_a: HP:0010249 ! Enlarged epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T12:07:34Z

[Term]
id: HP:0009254
name: Fragmentation of the epiphysis of the distal phalanx of the 4th finger
def: "Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fragmentation of end part of the outermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024493
is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger
is_a: HP:0009397 ! Fragmentation of the epiphyses of the 4th finger
is_a: HP:0010250 ! Fragmentation of the epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T12:07:34Z

[Term]
id: HP:0009255
name: Irregular epiphysis of the distal phalanx of the 4th finger
def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular end part of the outermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024492
is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger
is_a: HP:0009398 ! Irregular epiphyses of the 4th finger
is_a: HP:0010251 ! Irregular epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T12:07:34Z

[Term]
id: HP:0009256
name: Ivory epiphysis of the distal phalanx of the 4th finger
def: "Sclerosis of the epiphysis of the distal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased bone density of end part of the outermost ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024491
is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger
is_a: HP:0009399 ! Ivory epiphyses of the 4th finger
is_a: HP:0010252 ! Ivory epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T12:07:34Z

[Term]
id: HP:0009257
name: Pseudoepiphysis of the distal phalanx of the 4th finger
def: "A secondary ossification center in the distal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024490
is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger
is_a: HP:0009400 ! Pseudoepiphyses of the 4th finger
is_a: HP:0010253 ! Pseudoepiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T12:07:34Z

[Term]
id: HP:0009258
name: Small epiphysis of the distal phalanx of the 4th finger
def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small end part of the outermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024489
is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger
is_a: HP:0009401 ! Small epiphyses of the 4th finger
is_a: HP:0010254 ! Small epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T12:07:34Z

[Term]
id: HP:0009259
name: Stippling of the epiphysis of the distal phalanx of the 4th finger
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Speckled calcifications in the end part of the outermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024488
is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger
is_a: HP:0009402 ! Stippling of the epiphyses of the 4th finger
is_a: HP:0010255 ! Stippling of the epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T12:07:34Z

[Term]
id: HP:0009260
name: Triangular epiphysis of the distal phalanx of the 4th finger
def: "A triangular appearance of the epiphysis of the distal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [https://orcid.org/0000-0002-0736-9199]
synonym: "Delta-shaped epiphysis of the distal phalanx of the 4th finger" EXACT []
synonym: "Triangular end part of the outermost bone of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021507
is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger
is_a: HP:0009403 ! Triangular epiphyses of the 4th finger
is_a: HP:0010256 ! Triangular epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T12:07:34Z

[Term]
id: HP:0009261
name: Absent epiphysis of the proximal phalanx of the 4th finger
def: "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent end part of the innermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024487
is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger
is_a: HP:0009393 ! Absent epiphyses of the 4th finger
is_a: HP:0010268 ! Absent epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T12:12:59Z

[Term]
id: HP:0009262
name: Bracket epiphysis of the proximal phalanx of the 4th finger
alt_id: HP:0004200
def: "An abnormality of the proximal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bracket proximal epiphysis of the ring finger" EXACT []
synonym: "Bracket shaped end part of the innermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021506
is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger
is_a: HP:0009394 ! Bracket epiphyses of the 4th finger
is_a: HP:0010269 ! Bracket epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T12:12:59Z

[Term]
id: HP:0009263
name: Cone-shaped epiphysis of the proximal phalanx of the 4th finger
def: "A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cone-shaped end part of the innermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024486
is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger
is_a: HP:0009395 ! Cone-shaped epiphyses of the 4th finger
is_a: HP:0010270 ! Cone-shaped epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T12:12:59Z

[Term]
id: HP:0009264
name: Enlarged epiphysis of the proximal phalanx of the 4th finger
def: "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlarged end part of the innermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024485
is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger
is_a: HP:0009396 ! Enlarged epiphyses of the 4th finger
is_a: HP:0010271 ! Enlarged epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T12:12:59Z

[Term]
id: HP:0009265
name: Fragmentation of the epiphysis of the proximal phalanx of the 4th finger
def: "Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fragmentation of end part of the innermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024484
is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger
is_a: HP:0009397 ! Fragmentation of the epiphyses of the 4th finger
is_a: HP:0010272 ! Fragmentation of the epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T12:12:59Z

[Term]
id: HP:0009266
name: Irregular epiphysis of the proximal phalanx of the 4th finger
def: "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular end part of the innermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024483
is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger
is_a: HP:0009398 ! Irregular epiphyses of the 4th finger
is_a: HP:0010273 ! Irregular epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T12:12:59Z

[Term]
id: HP:0009267
name: Ivory epiphysis of the proximal phalanx of the 4th finger
def: "Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased bone density of end part of the innermost ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024482
is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger
is_a: HP:0009399 ! Ivory epiphyses of the 4th finger
is_a: HP:0010274 ! Ivory epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T12:12:59Z

[Term]
id: HP:0009268
name: Pseudoepiphysis of the proximal phalanx of the 4th finger
def: "A secondary ossification center in the proximal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024481
is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger
is_a: HP:0009400 ! Pseudoepiphyses of the 4th finger
is_a: HP:0010275 ! Pseudoepiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T12:12:59Z

[Term]
id: HP:0009269
name: Small epiphysis of the proximal phalanx of the 4th finger
def: "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small end part of the innermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024480
is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger
is_a: HP:0009401 ! Small epiphyses of the 4th finger
is_a: HP:0010276 ! Small epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T12:12:59Z

[Term]
id: HP:0009270
name: Stippling of the epiphysis of the proximal phalanx of the 4th finger
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Speckled calcifications in end part of the innermost bone of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024479
is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger
is_a: HP:0009402 ! Stippling of the epiphyses of the 4th finger
is_a: HP:0010277 ! Stippling of the epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T12:12:59Z

[Term]
id: HP:0009271
name: Triangular epiphysis of the proximal phalanx of the 4th finger
def: "A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [https://orcid.org/0000-0002-0736-9199]
synonym: "Delta-shaped epiphysis of the proximal phalanx of the 4th finger" EXACT []
synonym: "Triangular end part of the innermost bone of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021505
is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger
is_a: HP:0009403 ! Triangular epiphyses of the 4th finger
is_a: HP:0010278 ! Triangular epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T12:12:59Z

[Term]
id: HP:0009272
name: Aplasia/Hypoplasia of the 4th finger
def: "A small/hypoplastic or absent/aplastic 4th (ring) finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024478
is_a: HP:0004188 ! Abnormal 4th finger morphology
is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T04:01:26Z

[Term]
id: HP:0009273
name: Deviation of the 4th finger
def: "Displacement of the 4th finger from its normal position." [https://orcid.org/0000-0002-0736-9199]
synonym: "Deviation of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024477
is_a: HP:0004097 ! Deviation of finger
is_a: HP:0004188 ! Abnormal 4th finger morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T04:03:23Z

[Term]
id: HP:0009274
name: Joint contracture of the 4th finger
alt_id: HP:0004189
def: "Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected." [https://orcid.org/0000-0002-0736-9199]
synonym: "Joint contractures of the fourth finger" EXACT []
xref: UMLS:C4021504
is_a: HP:0004188 ! Abnormal 4th finger morphology
is_a: HP:0012785 ! Flexion contracture of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T04:04:54Z

[Term]
id: HP:0009275
name: Contracture of the distal interphalangeal joint of the 4th finger
def: "Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024476
is_a: HP:0009274 ! Joint contracture of the 4th finger
is_a: HP:0009697 ! Contracture of the distal interphalangeal joint of the fingers
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T04:10:39Z

[Term]
id: HP:0009276
name: Contracture of the proximal interphalangeal joint of the 4th finger
alt_id: HP:0005845
def: "Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement." [https://orcid.org/0000-0002-0736-9199]
synonym: "4th finger camptodactyly" EXACT []
synonym: "Camptodactyly of the 4th finger" EXACT []
synonym: "Camptodactyly of the ring finger" EXACT []
xref: UMLS:C4021503
is_a: HP:0009274 ! Joint contracture of the 4th finger
is_a: HP:0100490 ! Camptodactyly of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T04:10:39Z

[Term]
id: HP:0009277
name: Contracture of the metacarpophalangeal joint of the 4th finger
def: "Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024475
is_a: HP:0009274 ! Joint contracture of the 4th finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T04:10:39Z

[Term]
id: HP:0009278
name: Ulnar deviation of the 4th finger
def: "Displacement of the 4th finger towards the ulnar side (i.e., towards the 5th finger)." [https://orcid.org/0009-0006-4530-3154]
synonym: "Ulnar deviation of the ring finger" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024474
is_a: HP:0009273 ! Deviation of the 4th finger
is_a: HP:0009465 ! Ulnar deviation of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T04:24:53Z

[Term]
id: HP:0009279
name: Radial deviation of the 4th finger
def: "Displacement of the 4th finger towards the radial side (i.e., towards the thumb)." [https://orcid.org/0009-0006-4530-3154]
synonym: "Radial deviation of the ring finger" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024473
is_a: HP:0009273 ! Deviation of the 4th finger
is_a: HP:0009466 ! Radial deviation of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T04:24:53Z

[Term]
id: HP:0009280
name: Short 4th finger
alt_id: HP:0004190
alt_id: HP:0006211
def: "Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger." [https://orcid.org/0009-0006-4530-3154]
synonym: "Hypoplastic/small 4th finger" EXACT []
synonym: "Short ring finger" EXACT layperson []
xref: UMLS:C4021502
is_a: HP:0009272 ! Aplasia/Hypoplasia of the 4th finger
is_a: HP:0009381 ! Short finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T04:28:08Z

[Term]
id: HP:0009281
name: Aplasia of the 4th finger
def: "Absent 4th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024472
is_a: HP:0009272 ! Aplasia/Hypoplasia of the 4th finger
is_a: HP:0009380 ! Finger aplasia
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T04:28:08Z

[Term]
id: HP:0009282
name: Abnormality of the distal phalanx of the 4th finger
synonym: "Abnormality of the outermost bone of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024471
is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T04:42:40Z

[Term]
id: HP:0009283
name: Abnormality of the middle phalanx of the 4th finger
alt_id: HP:0004204
synonym: "Abnormal middle bone of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the middle phalanx of the ring finger" EXACT layperson []
xref: UMLS:C4021501
is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T04:42:40Z

[Term]
id: HP:0009284
name: Abnormality of the proximal phalanx of the 4th finger
alt_id: HP:0004199
synonym: "Abnormal innermost bone of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the proximal phalanx of the ring finger" EXACT layperson []
xref: UMLS:C4021500
is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-07T04:42:40Z

[Term]
id: HP:0009285
name: Curved phalanges of the 4th finger
def: "Curved appearance of the phalanges of the 4th (ring) finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curved ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024470
is_a: HP:0004095 ! Curved fingers
is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology
is_a: HP:0009770 ! Curved phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-08T03:44:14Z

[Term]
id: HP:0009286
name: Curved distal phalanx of the 4th finger
def: "Curved appearance of the distal phalanx of the 4th (ring) finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curved outermost ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024469
is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger
is_a: HP:0009285 ! Curved phalanges of the 4th finger
is_a: HP:0009838 ! Curved distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-08T03:46:28Z

[Term]
id: HP:0009287
name: Curved middle phalanx of the 4th finger
def: "Curved appearance of the middle phalanx of the 4th (ring) finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curved middle ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024468
is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger
is_a: HP:0009285 ! Curved phalanges of the 4th finger
is_a: HP:0009846 ! Curved middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-08T03:46:28Z

[Term]
id: HP:0009288
name: Curved proximal phalanx of the 4th finger
synonym: "Curved innermost ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024467
is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger
is_a: HP:0009285 ! Curved phalanges of the 4th finger
is_a: HP:0009854 ! Curved proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-08T03:46:28Z

[Term]
id: HP:0009289
name: Aplasia/Hypoplasia of the distal phalanx of the 4th finger
synonym: "Absent/small outermost ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped outermost ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024466
is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger
is_a: HP:0009408 ! Aplasia/Hypoplasia of the phalanges of the 4th finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-08T03:59:04Z

[Term]
id: HP:0009290
name: Short distal phalanx of the 4th finger
def: "Hypoplastic/small distal phalanx of the fourth finger." [https://orcid.org/0009-0006-4530-3154]
synonym: "Hypoplastic/small distal phalanx of the 4th finger" EXACT []
synonym: "Short distal phalanx of the fourth finger" EXACT []
synonym: "Short outermost bone of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021499
is_a: HP:0009280 ! Short 4th finger
is_a: HP:0009289 ! Aplasia/Hypoplasia of the distal phalanx of the 4th finger
is_a: HP:0009882 ! Short distal phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-08T03:59:28Z

[Term]
id: HP:0009291
name: Aplasia of the distal phalanx of the 4th finger
def: "Absence of the distal phalanx of the ring (4th) finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent outermost bone of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024465
is_a: HP:0009281 ! Aplasia of the 4th finger
is_a: HP:0009289 ! Aplasia/Hypoplasia of the distal phalanx of the 4th finger
is_a: HP:0009881 ! Aplasia of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-08T04:00:27Z

[Term]
id: HP:0009292
name: Broad distal phalanx of the 4th finger
def: "Increased width of the distal phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad outermost bone of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Wide outermost bone of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024464
is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger
is_a: HP:0009404 ! Broad phalanges of the 4th finger
is_a: HP:0009836 ! Broad distal phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-08T04:41:33Z

[Term]
id: HP:0009293
name: Broad middle phalanx of the 4th finger
def: "Increased width of the middle phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad middle bone of the 4th finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024463
is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger
is_a: HP:0009404 ! Broad phalanges of the 4th finger
is_a: HP:0009844 ! Broad middle phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-08T04:59:22Z

[Term]
id: HP:0009294
name: Absent middle phalanx of 4th finger
def: "Absence of the middle phalanx of the ring (4th) finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent middle bone of 4th finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Aplasia of the middle phalanx of the 4th finger" EXACT []
xref: UMLS:C4021498
is_a: HP:0009281 ! Aplasia of the 4th finger
is_a: HP:0009299 ! Aplasia/Hypoplasia of the middle phalanx of the 4th finger
is_a: HP:0010239 ! Aplasia of the middle phalanx of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-08T04:11:35Z

[Term]
id: HP:0009295
name: Short middle phalanx of the 4th finger
alt_id: HP:0004205
alt_id: HP:0004206
def: "Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger." [https://orcid.org/0009-0006-4530-3154]
synonym: "Brachymesophalangy IV (finger)" EXACT []
synonym: "Hypoplastic/small middle phalanx of ring finger" EXACT []
synonym: "Hypoplastic/small middle phalanx of the 4th finger" EXACT []
synonym: "Short middle bone of 4th finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Short middle phalanx of ring finger" EXACT []
xref: UMLS:C4021497
is_a: HP:0005819 ! Short middle phalanx of finger
is_a: HP:0009280 ! Short 4th finger
is_a: HP:0009299 ! Aplasia/Hypoplasia of the middle phalanx of the 4th finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-08T04:11:35Z

[Term]
id: HP:0009296
name: Bullet-shaped middle phalanx of the 4th finger
def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 4th finger is affected." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped middle bone of the 4th finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024462
is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger
is_a: HP:0009405 ! Bullet-shaped phalanges of the 4th finger
is_a: HP:0009845 ! Bullet-shaped middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-08T04:59:22Z

[Term]
id: HP:0009297
name: Osteolytic defects of the middle phalanx of the 4th finger
def: "Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024461
is_a: HP:0004195 ! Osteolytic defects of the phalanges of the 4th finger
is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger
is_a: HP:0009847 ! Osteolytic defects of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-08T04:59:22Z

[Term]
id: HP:0009298
name: Aplasia of the proximal phalanx of the 4th finger
def: "Absence of the proximal phalanx of the ring (4th) finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent innermost ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024460
is_a: HP:0009281 ! Aplasia of the 4th finger
is_a: HP:0009300 ! Aplasia/Hypoplasia of the proximal phalanx of the 4th finger
is_a: HP:0010242 ! Aplasia of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-08T04:22:16Z

[Term]
id: HP:0009299
name: Aplasia/Hypoplasia of the middle phalanx of the 4th finger
synonym: "Absent/small middle ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped middle ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024459
is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger
is_a: HP:0009408 ! Aplasia/Hypoplasia of the phalanges of the 4th finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-08T04:27:22Z

[Term]
id: HP:0009300
name: Aplasia/Hypoplasia of the proximal phalanx of the 4th finger
alt_id: HP:0004203
synonym: "Absent/small innermost ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped innermost ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4020658
is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger
is_a: HP:0009408 ! Aplasia/Hypoplasia of the phalanges of the 4th finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-08T04:28:54Z

[Term]
id: HP:0009301
name: Short proximal phalanx of the 4th finger
def: "Hypoplastic/small proximal phalanx of the fourth finger." [https://orcid.org/0009-0006-4530-3154]
synonym: "Hypoplastic/small proximal phalanx of the 4th finger" EXACT []
synonym: "Short innermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Short proximal phalanx of the fourth finger" EXACT []
xref: UMLS:C4021496
is_a: HP:0009280 ! Short 4th finger
is_a: HP:0009300 ! Aplasia/Hypoplasia of the proximal phalanx of the 4th finger
is_a: HP:0010241 ! Short proximal phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-08T04:29:38Z

[Term]
id: HP:0009302
name: Bullet-shaped distal phalanx of the 4th finger
def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped outermost bone of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024458
is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger
is_a: HP:0009405 ! Bullet-shaped phalanges of the 4th finger
is_a: HP:0009837 ! Bullet-shaped distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-08T04:41:33Z

[Term]
id: HP:0009303
name: Osteolytic defects of the distal phalanx of the 4th finger
def: "Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024457
is_a: HP:0004195 ! Osteolytic defects of the phalanges of the 4th finger
is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger
is_a: HP:0009839 ! Osteolytic defects of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-08T04:41:33Z

[Term]
id: HP:0009304
name: Patchy sclerosis of the distal phalanx of the 4th finger
def: "Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Uneven increase in bone density in the outermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024456
is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger
is_a: HP:0009406 ! Patchy sclerosis of 4th finger phalanx
is_a: HP:0009840 ! Patchy sclerosis of distal phalanx of finger
is_a: HP:0100902 ! Sclerosis of the distal phalanx of the 4th finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-08T04:41:33Z

[Term]
id: HP:0009305
name: Distal/middle symphalangism of 4th finger
alt_id: HP:0009474
alt_id: HP:0009475
def: "Fusion of the terminal/distal and middle phalanges of the 4th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fused outermost and middle bones of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Symphalangism of the distal and middle phalanges of the 4th finger" EXACT []
xref: UMLS:C4021495
is_a: HP:0001204 ! Distal symphalangism of hands
is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger
is_a: HP:0009308 ! Symphalangism of middle phalanx of 4th finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-08T04:41:33Z

[Term]
id: HP:0009306
name: Triangular shaped distal phalanx of the 4th finger
def: "Triangular shaped distal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Triangular shaped outermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024455
is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger
is_a: HP:0009407 ! Triangular shaped phalanges of the 4th finger
is_a: HP:0009875 ! Triangular shaped distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-08T04:41:33Z

[Term]
id: HP:0009307
name: Patchy sclerosis of the middle phalanx of the 4th finger
def: "Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Uneven increase in bone density in the middle bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024454
is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger
is_a: HP:0009406 ! Patchy sclerosis of 4th finger phalanx
is_a: HP:0009848 ! Patchy sclerosis of middle phalanx of finger
is_a: HP:0100906 ! Sclerosis of the middle phalanx of the 4th finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-08T04:59:22Z

[Term]
id: HP:0009308
name: Symphalangism of middle phalanx of 4th finger
def: "Fusion of the middle phalanx of the 4th finger with another bone." [https://orcid.org/0009-0006-4530-3154]
synonym: "Fused middle bone of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024453
is_a: HP:0004197 ! Symphalangism of the 4th finger
is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger
is_a: HP:0009849 ! Symphalangism of middle phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-08T04:59:22Z

[Term]
id: HP:0009309
name: Triangular shaped middle phalanx of the 4th finger
def: "Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Triangular shaped middle bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4024452
is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger
is_a: HP:0009407 ! Triangular shaped phalanges of the 4th finger
is_a: HP:0009850 ! Triangular shaped middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-08T04:59:22Z

[Term]
id: HP:0009310
name: Broad proximal phalanx of the 4th finger
alt_id: HP:0004201
def: "Increased width of the proximal phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad innermost ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4020660
is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger
is_a: HP:0009404 ! Broad phalanges of the 4th finger
is_a: HP:0009852 ! Broad proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-08T05:11:48Z

[Term]
id: HP:0009311
name: Bullet-shaped proximal phalanx of the 4th finger
def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped innermost ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024451
is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger
is_a: HP:0009405 ! Bullet-shaped phalanges of the 4th finger
is_a: HP:0009853 ! Bullet-shaped proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-08T05:11:48Z

[Term]
id: HP:0009312
name: Osteolytic defects of the proximal phalanx of the 4th finger
alt_id: HP:0004202
def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024450
is_a: HP:0004195 ! Osteolytic defects of the phalanges of the 4th finger
is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger
is_a: HP:0009855 ! Osteolytic defects of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-08T05:11:48Z

[Term]
id: HP:0009313
name: Patchy sclerosis of the proximal phalanx of the 4th finger
def: "Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Uneven increase in bone density in the innermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024449
is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger
is_a: HP:0009406 ! Patchy sclerosis of 4th finger phalanx
is_a: HP:0009856 ! Patchy sclerosis of proximal phalanx of finger
is_a: HP:0100910 ! Sclerosis of the proximal phalanx of the 4th finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-08T05:11:48Z

[Term]
id: HP:0009314
name: Symphalangism affecting the proximal phalanx of the 4th finger
def: "Fusion of the proximal phalanx of the 4th finger with another bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fused innermost bone of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024448
is_a: HP:0004197 ! Symphalangism of the 4th finger
is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger
is_a: HP:0009857 ! Symphalangism affecting the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-08T05:11:48Z

[Term]
id: HP:0009315
name: Triangular shaped proximal phalanx of the 4th finger
def: "Triangular shaped proximal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Triangular shaped innermost bone of the 4th finger" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Triangular shaped innermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4024447
is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger
is_a: HP:0009407 ! Triangular shaped phalanges of the 4th finger
is_a: HP:0009858 ! Triangular shaped proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-08T05:11:48Z

[Term]
id: HP:0009316
name: Abnormal 3rd finger phalanx morphology
alt_id: HP:0004155
def: "Abnormality of the phalanges of the 3rd (middle) finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of 3rd finger phalanges" EXACT []
synonym: "Abnormality of middle finger phalanges" EXACT []
synonym: "Abnormality of the middle finger bones" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Abnormality of the phalanges of the 3rd finger" EXACT []
xref: UMLS:C4021494
is_a: HP:0004150 ! Abnormal 3rd finger morphology
is_a: HP:0005918 ! Abnormal finger phalanx morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:00:24Z

[Term]
id: HP:0009317
name: Deviation of the 3rd finger
alt_id: HP:0004152
def: "Displacement of the 3rd finger from its normal position." [https://orcid.org/0000-0002-0736-9199]
synonym: "Deviated middle finger" EXACT layperson []
xref: UMLS:C4021493
is_a: HP:0004097 ! Deviation of finger
is_a: HP:0004150 ! Abnormal 3rd finger morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:02:27Z

[Term]
id: HP:0009318
name: Aplasia/Hypoplasia of the 3rd finger
def: "A small/hypoplastic or absent/aplastic 3rd (middle) finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024446
is_a: HP:0004150 ! Abnormal 3rd finger morphology
is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:04:08Z

[Term]
id: HP:0009319
name: Joint contracture of the 3rd finger
alt_id: HP:0004151
def: "Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected." [https://orcid.org/0000-0002-0736-9199]
synonym: "Camptodactyly of middle finger" EXACT []
xref: UMLS:C4021492
is_a: HP:0004150 ! Abnormal 3rd finger morphology
is_a: HP:0012785 ! Flexion contracture of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:05:43Z

[Term]
id: HP:0009320
name: Abnormality of the epiphyses of the 3rd finger
def: "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of end part of the middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024445
is_a: HP:0004150 ! Abnormal 3rd finger morphology
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:07:00Z

[Term]
id: HP:0009321
name: Absent epiphysis of the middle phalanx of the 3rd finger
def: "Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent end part of the middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024444
is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger
is_a: HP:0009410 ! Absent epiphyses of the 3rd finger
is_a: HP:0010257 ! Absent epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:15:44Z

[Term]
id: HP:0009322
name: Bracket epiphysis of the middle phalanx of the 3rd finger
def: "An abnormality of the middle phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bracket shaped end part of the middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024443
is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger
is_a: HP:0009411 ! Bracket epiphyses of the 3rd finger
is_a: HP:0010258 ! Bracket epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:15:44Z

[Term]
id: HP:0009323
name: Cone-shaped epiphysis of the middle phalanx of the 3rd finger
def: "A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cone-shaped end part of the middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024442
is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger
is_a: HP:0009412 ! Cone-shaped epiphyses of the 3rd finger
is_a: HP:0010259 ! Cone-shaped epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:15:44Z

[Term]
id: HP:0009324
name: Enlarged epiphysis of the middle phalanx of the 3rd finger
def: "Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlarged end part of the middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024441
is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger
is_a: HP:0009413 ! Enlarged epiphyses of the 3rd finger
is_a: HP:0010260 ! Enlarged epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:15:44Z

[Term]
id: HP:0009325
name: Fragmentation of the epiphysis of the middle phalanx of the 3rd finger
def: "Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fragmentation of end part of the middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024440
is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger
is_a: HP:0009414 ! Fragmentation of the epiphyses of the 3rd finger
is_a: HP:0010261 ! Fragmentation of the epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:15:44Z

[Term]
id: HP:0009326
name: Irregular epiphysis of the middle phalanx of the 3rd finger
def: "Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular end part of the middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024439
is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger
is_a: HP:0009415 ! Irregular epiphyses of the 3rd finger
is_a: HP:0010262 ! Irregular epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:15:44Z

[Term]
id: HP:0009327
name: Ivory epiphysis of the middle phalanx of the 3rd finger
def: "Sclerosis of the epiphysis of the middle phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased bone density of end part of the middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024438
is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger
is_a: HP:0009416 ! Ivory epiphyses of the 3rd finger
is_a: HP:0010263 ! Ivory epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:15:44Z

[Term]
id: HP:0009328
name: Pseudoepiphysis of the middle phalanx of the 3rd finger
alt_id: HP:0004176
def: "A secondary ossification center in the middle phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Pseudoepiphyses of middle phalanx of middle-finger" EXACT []
xref: UMLS:C4021491
is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger
is_a: HP:0009417 ! Pseudoepiphyses of the 3rd finger
is_a: HP:0010264 ! Pseudoepiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:15:44Z

[Term]
id: HP:0009329
name: Small epiphysis of the middle phalanx of the 3rd finger
def: "Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small end part of the middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024437
is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger
is_a: HP:0009418 ! Small epiphyses of the 3rd finger
is_a: HP:0010265 ! Small epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:15:44Z

[Term]
id: HP:0009330
name: Stippling of the epiphysis of the middle phalanx of the 3rd finger
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Speckled calcifications in end part of the middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024436
is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger
is_a: HP:0009419 ! Stippling of the epiphyses of the 3rd finger
is_a: HP:0010266 ! Stippling of the epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:15:44Z

[Term]
id: HP:0009331
name: Triangular epiphysis of the middle phalanx of the 3rd finger
def: "A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [https://orcid.org/0000-0002-0736-9199]
synonym: "Delta-shaped epiphysis of the middle phalanx of the 3rd finger" EXACT []
synonym: "Triangular end part of the middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021490
is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger
is_a: HP:0009420 ! Triangular epiphyses of the 3rd finger
is_a: HP:0010267 ! Triangular epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:15:44Z

[Term]
id: HP:0009332
name: Abnormality of the epiphysis of the distal phalanx of the 3rd finger
synonym: "Abnormality of the end part of the outermost bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024435
is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger
is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger
is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:16:06Z

[Term]
id: HP:0009333
name: Abnormality of the epiphysis of the proximal phalanx of the 3rd finger
synonym: "Abnormality of the end part of the innermost bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024434
is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger
is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger
is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:16:44Z

[Term]
id: HP:0009334
name: Abnormality of the epiphysis of the middle phalanx of the 3rd finger
synonym: "Abnormality of the middle part of the middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024433
is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger
is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger
is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:16:44Z

[Term]
id: HP:0009335
name: Absent epiphysis of the distal phalanx of the 3rd finger
def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent end part of the outermost bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024432
is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger
is_a: HP:0009410 ! Absent epiphyses of the 3rd finger
is_a: HP:0010246 ! Absent epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:18:33Z

[Term]
id: HP:0009336
name: Bracket epiphysis of the distal phalanx of the 3rd finger
def: "An abnormality of the distal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bracket shaped end part of the outermost bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024431
is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger
is_a: HP:0009411 ! Bracket epiphyses of the 3rd finger
is_a: HP:0010247 ! Bracket epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:18:33Z

[Term]
id: HP:0009337
name: Cone-shaped epiphysis of the distal phalanx of the 3rd finger
def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cone-shaped end part of the outermost bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024430
is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger
is_a: HP:0009412 ! Cone-shaped epiphyses of the 3rd finger
is_a: HP:0010248 ! Cone-shaped epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:18:33Z

[Term]
id: HP:0009338
name: Enlarged epiphysis of the distal phalanx of the 3rd finger
def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlarged end part of the outermost bone of the 3rd finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024429
is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger
is_a: HP:0009413 ! Enlarged epiphyses of the 3rd finger
is_a: HP:0010249 ! Enlarged epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:18:33Z

[Term]
id: HP:0009339
name: Fragmentation of the epiphysis of the distal phalanx of the 3rd finger
def: "Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fragmentation of end part of the outermost bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024428
is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger
is_a: HP:0009414 ! Fragmentation of the epiphyses of the 3rd finger
is_a: HP:0010250 ! Fragmentation of the epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:18:33Z

[Term]
id: HP:0009340
name: Irregular epiphysis of the distal phalanx of the 3rd finger
def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular end part of the outermost long bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024427
is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger
is_a: HP:0009415 ! Irregular epiphyses of the 3rd finger
is_a: HP:0010251 ! Irregular epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:18:33Z

[Term]
id: HP:0009341
name: Ivory epiphysis of the distal phalanx of the 3rd finger
def: "Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased bone density of end part of the outermost middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024426
is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger
is_a: HP:0009416 ! Ivory epiphyses of the 3rd finger
is_a: HP:0010252 ! Ivory epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:18:33Z

[Term]
id: HP:0009342
name: Pseudoepiphysis of the distal phalanx of the 3rd finger
def: "A secondary ossification center in the distal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Pseudoepiphysis of the outermost bone of the middle finger" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024425
is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger
is_a: HP:0009417 ! Pseudoepiphyses of the 3rd finger
is_a: HP:0010253 ! Pseudoepiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:18:33Z

[Term]
id: HP:0009343
name: Small epiphysis of the distal phalanx of the 3rd finger
def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small end part of the outermost long bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024424
is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger
is_a: HP:0009418 ! Small epiphyses of the 3rd finger
is_a: HP:0010254 ! Small epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:18:33Z

[Term]
id: HP:0009344
name: Stippling of the epiphysis of the distal phalanx of the 3rd finger
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Speckled calcifications in end part of the outermost long bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024423
is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger
is_a: HP:0009419 ! Stippling of the epiphyses of the 3rd finger
is_a: HP:0010255 ! Stippling of the epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:18:33Z

[Term]
id: HP:0009345
name: Triangular epiphysis of the distal phalanx of the 3rd finger
def: "A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [https://orcid.org/0000-0002-0736-9199]
synonym: "Delta-shaped epiphysis of the distal phalanx of the 3rd finger" EXACT []
synonym: "Triangular end part of the outermost long bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021489
is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger
is_a: HP:0009420 ! Triangular epiphyses of the 3rd finger
is_a: HP:0010256 ! Triangular epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:18:33Z

[Term]
id: HP:0009346
name: Absent epiphysis of the proximal phalanx of the 3rd finger
def: "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent end part of innermost long bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024422
is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger
is_a: HP:0009410 ! Absent epiphyses of the 3rd finger
is_a: HP:0010268 ! Absent epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:19:03Z

[Term]
id: HP:0009347
name: Bracket epiphysis of the proximal phalanx of the 3rd finger
def: "An abnormality of the proximal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bracket shaped end part of innermost long bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024421
is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger
is_a: HP:0009411 ! Bracket epiphyses of the 3rd finger
is_a: HP:0010269 ! Bracket epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:19:03Z

[Term]
id: HP:0009348
name: Cone-shaped epiphysis of the proximal phalanx of the 3rd finger
def: "A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cone-shaped end part of the innermost bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024420
is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger
is_a: HP:0009412 ! Cone-shaped epiphyses of the 3rd finger
is_a: HP:0010270 ! Cone-shaped epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:19:03Z

[Term]
id: HP:0009349
name: Enlarged epiphysis of the proximal phalanx of the 3rd finger
alt_id: HP:0004171
def: "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlarged end part of innermost long bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Large epiphysis of proximal middle-finger phalanx" EXACT []
xref: UMLS:C4021488
is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger
is_a: HP:0009413 ! Enlarged epiphyses of the 3rd finger
is_a: HP:0010271 ! Enlarged epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:19:03Z

[Term]
id: HP:0009350
name: Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger
def: "Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fragmentation of end part of innermost long bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024419
is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger
is_a: HP:0009414 ! Fragmentation of the epiphyses of the 3rd finger
is_a: HP:0010272 ! Fragmentation of the epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:19:03Z

[Term]
id: HP:0009351
name: Irregular epiphysis of the proximal phalanx of the 3rd finger
def: "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular end part of innermost long bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024418
is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger
is_a: HP:0009415 ! Irregular epiphyses of the 3rd finger
is_a: HP:0010273 ! Irregular epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:19:03Z

[Term]
id: HP:0009352
name: Ivory epiphysis of the proximal phalanx of the 3rd finger
def: "Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased bone density of end part of the innermost middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024417
is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger
is_a: HP:0009416 ! Ivory epiphyses of the 3rd finger
is_a: HP:0010274 ! Ivory epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:19:03Z

[Term]
id: HP:0009353
name: Pseudoepiphysis of the proximal phalanx of the 3rd finger
def: "A secondary ossification center in the proximal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024416
is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger
is_a: HP:0009417 ! Pseudoepiphyses of the 3rd finger
is_a: HP:0010275 ! Pseudoepiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:19:03Z

[Term]
id: HP:0009354
name: Small epiphysis of the proximal phalanx of the 3rd finger
def: "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small end part of innermost long bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024415
is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger
is_a: HP:0009418 ! Small epiphyses of the 3rd finger
is_a: HP:0010276 ! Small epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:19:03Z

[Term]
id: HP:0009355
name: Stippling of the epiphysis of the proximal phalanx of the 3rd finger
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Speckled calcifications in end part of innermost long bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024414
is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger
is_a: HP:0009419 ! Stippling of the epiphyses of the 3rd finger
is_a: HP:0010277 ! Stippling of the epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:19:03Z

[Term]
id: HP:0009356
name: Triangular epiphysis of the proximal phalanx of the 3rd finger
def: "A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [https://orcid.org/0000-0002-0736-9199]
synonym: "Delta-shaped epiphysis of the proximal phalanx of the 3rd finger" EXACT []
synonym: "Triangular end part of innermost long bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021487
is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger
is_a: HP:0009420 ! Triangular epiphyses of the 3rd finger
is_a: HP:0010278 ! Triangular epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:19:03Z

[Term]
id: HP:0009357
name: Abnormality of the distal phalanx of the 3rd finger
alt_id: HP:0004179
synonym: "Abnormality of terminal phalanx of middle-finger" EXACT []
synonym: "Abnormality of the outermost bone of the 3rd finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021486
is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:40:58Z

[Term]
id: HP:0009358
name: Abnormality of the proximal phalanx of the 3rd finger
alt_id: HP:0004167
synonym: "Abnormal innermost bone of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of proximal middle-finger phalanx" EXACT []
xref: UMLS:C4021485
is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-12T11:42:37Z

[Term]
id: HP:0009370
name: Type A brachydactyly
xref: UMLS:C4024413
is_a: HP:0001156 ! Brachydactyly
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T10:50:19Z

[Term]
id: HP:0009371
name: Type A1 brachydactyly
xref: SNOMEDCT_US:715720006
xref: UMLS:C1862151
is_a: HP:0009370 ! Type A brachydactyly
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T10:50:19Z

[Term]
id: HP:0009372
name: Type A2 brachydactyly
synonym: "Short index fingers and second toes" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1832702
is_a: HP:0009370 ! Type A brachydactyly
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T10:50:19Z

[Term]
id: HP:0009373
name: Type C brachydactyly
xref: UMLS:C1862103
is_a: HP:0001156 ! Brachydactyly
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T10:50:19Z

[Term]
id: HP:0009374
name: Broad phalanges of the 5th finger
def: "Increased width of the phalanges of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad little finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Broad pinkie finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Broad pinky finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024412
is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology
is_a: HP:0009768 ! Broad phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T10:55:04Z

[Term]
id: HP:0009375
name: Bullet-shaped phalanges of the 5th finger
def: "A fifth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped little finger bones" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Bullet-shaped pinkie finger bones" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Bullet-shaped pinky finger bones" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4024411
is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology
is_a: HP:0009769 ! Bullet-shaped phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T10:58:05Z

[Term]
id: HP:0009376
name: Aplasia/Hypoplasia of the phalanges of the 5th finger
def: "Aplasia/Hypoplasia of the phalanges of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small little finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/small pinkie finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/small pinky finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped pinky finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024410
is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology
is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T11:58:25Z

[Term]
id: HP:0009377
name: Patchy sclerosis of 5th finger phalanx
def: "Uneven increase in bone density of one or more of the phalanges of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Patchy sclerosis of the phalanges of the 5th finger" EXACT []
synonym: "Uneven increase in bone density in little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Uneven increase in bone density in pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Uneven increase in bone density in pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021484
is_a: HP:0009772 ! Patchy sclerosis of finger phalanx
is_a: HP:0100921 ! Sclerosis of 5th finger phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T12:00:02Z

[Term]
id: HP:0009378
name: Triangular shaped phalanges of the 5th finger
def: "Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Triangular shaped little finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Triangular shaped pinkie finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Triangular shaped pinky finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024409
is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology
is_a: HP:0009774 ! Triangular shaped phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T12:00:35Z

[Term]
id: HP:0009379
name: Rhomboid or triangular shaped 5th finger distal phalanx
def: "Rhomboid or triangular shaped 5th (little) finger distal phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Rhomboid or triangular shaped little finger bone" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Rhomboid or triangular shaped pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Rhomboid or triangular shaped pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4024408
is_a: HP:0009245 ! Triangular shaped distal phalanx of the 5th finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T01:01:44Z

[Term]
id: HP:0009380
name: Finger aplasia
alt_id: HP:0001180
alt_id: HP:0004093
def: "A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent fingers" EXACT layperson []
synonym: "Aplasia of the fingers" EXACT []
synonym: "Hand has less than 5 fingers" EXACT layperson []
synonym: "Hand oligodactyly" EXACT []
xref: SNOMEDCT_US:71358006
xref: UMLS:C0728895
is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T01:05:32Z

[Term]
id: HP:0009381
name: Short finger
alt_id: HP:0004098
alt_id: HP:0006015
def: "Abnormally short finger associated with developmental hypoplasia." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Hypoplastic digits" EXACT []
synonym: "Hypoplastic fingers" EXACT []
synonym: "Hypoplastic/small fingers" EXACT []
synonym: "Short finger" EXACT layperson []
synonym: "Stubby finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Stubby fingers" EXACT plural_form []
xref: SNOMEDCT_US:249765007
xref: UMLS:C0239594
xref: UMLS:C1844548
is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers
is_a: HP:0011927 ! Short digit
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T01:07:38Z

[Term]
id: HP:0009382
name: Absent epiphyses of the 5th finger
def: "Absence of one or more epiphyses of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent end part of little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent end part of pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent end part of pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024407
is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger
is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T01:19:03Z

[Term]
id: HP:0009383
name: Bracket epiphyses of the 5th finger
def: "An abnormality of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [PMID:24432108]
synonym: "Bracket shaped end part of little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Bracket shaped end part of pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Bracket shaped end part of pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024406
is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger
is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T01:19:03Z

[Term]
id: HP:0009384
name: Cone-shaped epiphyses of the 5th finger
def: "A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cone-shaped end part of the little finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Cone-shaped end part of the pinkie finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Cone-shaped end part of the pinky finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024405
is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger
is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T01:19:03Z

[Term]
id: HP:0009385
name: Enlarged epiphyses of the 5th finger
def: "Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlarged end part of the little finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Enlarged end part of the pinkie finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Enlarged end part of the pinky finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024404
is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger
is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T01:19:03Z

[Term]
id: HP:0009386
name: Fragmentation of the epiphyses of the 5th finger
def: "Fragmented appearance of the epiphyses of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fragmentation of the end part of the little finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Fragmentation of the end part of the pinkie finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Fragmentation of the end part of the pinky finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024403
is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger
is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T01:19:03Z

[Term]
id: HP:0009387
name: Irregular epiphyses of the 5th finger
def: "Irregular radiographic opacity of the epiphyses of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular end part of the little finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Irregular end part of the pinkie finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Irregular end part of the pinky finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024402
is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger
is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T01:19:03Z

[Term]
id: HP:0009388
name: Ivory epiphyses of the 5th finger
def: "Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased bone density of end part of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Increased bone density of end part of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Increased bone density of end part of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024401
is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger
is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand
is_a: HP:0100921 ! Sclerosis of 5th finger phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T01:19:03Z

[Term]
id: HP:0009389
name: Pseudoepiphyses of the 5th finger
def: "A secondary ossification center in the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024400
is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger
is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T01:19:03Z

[Term]
id: HP:0009390
name: Small epiphyses of the 5th finger
def: "Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small end part of little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Small end part of pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Small end part of pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024399
is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger
is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T01:19:03Z

[Term]
id: HP:0009391
name: Stippling of the epiphyses of the 5th finger
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Speckled calcifications in end part of little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Speckled calcifications in end part of pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Speckled calcifications in end part of pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024398
is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger
is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T01:19:03Z

[Term]
id: HP:0009392
name: Triangular epiphyses of the 5th finger
def: "A triangular appearance of the epiphyses of the 5th finger of the hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Delta-shaped epiphyses of the 5th finger" EXACT []
synonym: "Triangular end part of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Triangular end part of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Triangular end part of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021483
is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger
is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T01:19:03Z

[Term]
id: HP:0009393
name: Absent epiphyses of the 4th finger
def: "Absence of one or more epiphyses of the 4th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent end part of the ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024397
is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger
is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T01:59:12Z

[Term]
id: HP:0009394
name: Bracket epiphyses of the 4th finger
alt_id: HP:0004192
def: "An abnormality of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [PMID:24432108]
synonym: "Bracket shaped end part of ring finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024396
is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger
is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T01:59:12Z

[Term]
id: HP:0009395
name: Cone-shaped epiphyses of the 4th finger
def: "A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cone-shaped end part of the ring finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024395
is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger
is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T01:59:12Z

[Term]
id: HP:0009396
name: Enlarged epiphyses of the 4th finger
def: "Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlarged end part of the ring finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024394
is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger
is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T01:59:12Z

[Term]
id: HP:0009397
name: Fragmentation of the epiphyses of the 4th finger
def: "Fragmented appearance of the epiphyses of the 4th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fragmentation of the end part of the ring finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024393
is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger
is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T01:59:12Z

[Term]
id: HP:0009398
name: Irregular epiphyses of the 4th finger
def: "Irregular radiographic opacity of the epiphyses of the 4th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular end part of the ring finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024392
is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger
is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T01:59:12Z

[Term]
id: HP:0009399
name: Ivory epiphyses of the 4th finger
def: "Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased bone density of end part of the ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024391
is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger
is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand
is_a: HP:0100920 ! Sclerosis of 4th finger phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T01:59:12Z

[Term]
id: HP:0009400
name: Pseudoepiphyses of the 4th finger
def: "A secondary ossification center in the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024390
is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger
is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T01:59:12Z

[Term]
id: HP:0009401
name: Small epiphyses of the 4th finger
def: "Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small end part of ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024389
is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger
is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T01:59:12Z

[Term]
id: HP:0009402
name: Stippling of the epiphyses of the 4th finger
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Speckled calcifications in end part of ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024388
is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger
is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T01:59:12Z

[Term]
id: HP:0009403
name: Triangular epiphyses of the 4th finger
def: "A triangular appearance of the epiphyses of the 4th finger of the hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Delta-shaped epiphyses of the 4th finger" EXACT []
synonym: "Triangular end part of ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021482
is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger
is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T01:59:12Z

[Term]
id: HP:0009404
name: Broad phalanges of the 4th finger
def: "Increased width of the phalanges of the 4th finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad bones of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024387
is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology
is_a: HP:0009768 ! Broad phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T02:37:29Z

[Term]
id: HP:0009405
name: Bullet-shaped phalanges of the 4th finger
def: "A fourth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped of bone of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024386
is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology
is_a: HP:0009769 ! Bullet-shaped phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T02:37:29Z

[Term]
id: HP:0009406
name: Patchy sclerosis of 4th finger phalanx
def: "Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Patchy sclerosis of the phalanges of the 4th finger" EXACT []
synonym: "Uneven increase in bone density in ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021481
is_a: HP:0009772 ! Patchy sclerosis of finger phalanx
is_a: HP:0100920 ! Sclerosis of 4th finger phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T02:37:29Z

[Term]
id: HP:0009407
name: Triangular shaped phalanges of the 4th finger
def: "Triangular shaped phalanges of the 4th finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Triangular shaped bone of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024385
is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology
is_a: HP:0009774 ! Triangular shaped phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T02:37:29Z

[Term]
id: HP:0009408
name: Aplasia/Hypoplasia of the phalanges of the 4th finger
synonym: "Absent/small ring finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped ring finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024384
is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology
is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-13T02:37:29Z

[Term]
id: HP:0009410
name: Absent epiphyses of the 3rd finger
def: "Absence of the epiphyses of the 3rd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent end part of middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024383
is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger
is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T02:01:59Z

[Term]
id: HP:0009411
name: Bracket epiphyses of the 3rd finger
def: "An abnormality of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [PMID:24432108]
synonym: "Bracket shaped end part of middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024382
is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger
is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T02:01:59Z

[Term]
id: HP:0009412
name: Cone-shaped epiphyses of the 3rd finger
def: "A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cone-shaped end part of middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024381
is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger
is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T02:01:59Z

[Term]
id: HP:0009413
name: Enlarged epiphyses of the 3rd finger
def: "Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlarged end part of middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024380
is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger
is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T02:01:59Z

[Term]
id: HP:0009414
name: Fragmentation of the epiphyses of the 3rd finger
def: "Fragmented appearance of the epiphyses of the 3rd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fragmentation of end part of middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024379
is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger
is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T02:01:59Z

[Term]
id: HP:0009415
name: Irregular epiphyses of the 3rd finger
def: "Irregular radiographic opacity of the epiphyses of the 3rd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular end part of middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024378
is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger
is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T02:01:59Z

[Term]
id: HP:0009416
name: Ivory epiphyses of the 3rd finger
def: "Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased bone density of end part of the middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024377
is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger
is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand
is_a: HP:0100919 ! Sclerosis of 3rd finger phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T02:01:59Z

[Term]
id: HP:0009417
name: Pseudoepiphyses of the 3rd finger
alt_id: HP:0004163
def: "A secondary ossification center in the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Pseudoepiphyses of middle finger phalanges" EXACT []
xref: UMLS:C4021480
is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger
is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T02:01:59Z

[Term]
id: HP:0009418
name: Small epiphyses of the 3rd finger
def: "Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small end part of middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024376
is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger
is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T02:01:59Z

[Term]
id: HP:0009419
name: Stippling of the epiphyses of the 3rd finger
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Speckled calcifications in end part of middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024375
is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger
is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T02:01:59Z

[Term]
id: HP:0009420
name: Triangular epiphyses of the 3rd finger
def: "A triangular appearance of the epiphyses of the 3rd finger of the hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Delta-shaped epiphyses of the 3rd finger" EXACT []
synonym: "Triangular end part of middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021479
is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger
is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T02:01:59Z

[Term]
id: HP:0009421
name: Aplasia/Hypoplasia of the distal phalanx of the 3rd finger
synonym: "Absent/small outermost middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped outermost middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024374
is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger
is_a: HP:0009447 ! Aplasia/Hypoplasia of the phalanges of the 3rd finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T03:16:46Z

[Term]
id: HP:0009422
name: Broad distal phalanx of the 3rd finger
def: "Increased width of the distal phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad outermost bone of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024373
is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger
is_a: HP:0009440 ! Broad phalanges of the 3rd finger
is_a: HP:0009836 ! Broad distal phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T03:16:46Z

[Term]
id: HP:0009423
name: Bullet-shaped distal phalanx of the 3rd finger
def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 3rd finger is affected." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped outermost bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024372
is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger
is_a: HP:0009441 ! Bullet-shaped phalanges of the 3rd finger
is_a: HP:0009837 ! Bullet-shaped distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T03:16:46Z

[Term]
id: HP:0009424
name: Osteolytic defects of the distal phalanx of the 3rd finger
alt_id: HP:0004181
def: "Dissolution or degeneration of bone tissue of the distal phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Lytic defect of terminal phalanx of middle finger" EXACT []
xref: UMLS:C4021478
is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger
is_a: HP:0009443 ! Osteolytic defects of the phalanges of the 3rd finger
is_a: HP:0009839 ! Osteolytic defects of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T03:16:46Z

[Term]
id: HP:0009425
name: Patchy sclerosis of the distal phalanx of the 3rd finger
def: "Uneven (irregular) increase in bone density of the distal phalanx of the third finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Uneven increase in bone density in the outermost bone of the 3rd finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024371
is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger
is_a: HP:0009444 ! Patchy sclerosis of 3rd finger phalanx
is_a: HP:0009840 ! Patchy sclerosis of distal phalanx of finger
is_a: HP:0100901 ! Sclerosis of the distal phalanx of the 3rd finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T03:16:46Z

[Term]
id: HP:0009426
name: Distal/middle symphalangism of 3rd finger
alt_id: HP:0009479
alt_id: HP:0009480
def: "Fusion of the terminal/distal and middle phalanges of the 3rd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fused outermost and middle bones of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Symphalangism of the distal and middle phalanges of the 3rd finger" EXACT []
xref: UMLS:C4021477
is_a: HP:0001204 ! Distal symphalangism of hands
is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger
is_a: HP:0009435 ! Symphalangism of middle phalanx of 3rd finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T03:16:46Z

[Term]
id: HP:0009427
name: Triangular shaped distal phalanx of the 3rd finger
def: "Triangular shaped distal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Triangular shaped outermost bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024370
is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger
is_a: HP:0009446 ! Triangular shaped phalanges of the 3rd finger
is_a: HP:0009875 ! Triangular shaped distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T03:16:46Z

[Term]
id: HP:0009428
name: Curved distal phalanx of the 3rd finger
def: "Curved appearance of the distal phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curved outermost bone of the 3rd finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024369
is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger
is_a: HP:0009442 ! Curved phalanges of the 3rd finger
is_a: HP:0009838 ! Curved distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T03:16:46Z

[Term]
id: HP:0009429
name: Aplasia of the distal phalanx of the 3rd finger
def: "Absence of the distal phalanx of the middle (3rd) finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent of the outermost bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024368
is_a: HP:0009421 ! Aplasia/Hypoplasia of the distal phalanx of the 3rd finger
is_a: HP:0009460 ! Aplasia of the 3rd finger
is_a: HP:0009881 ! Aplasia of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T03:18:42Z

[Term]
id: HP:0009430
name: Broad middle phalanx of the 3rd finger
alt_id: HP:0004178
def: "Increased width of the middle phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad middle bone of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Wide/broad middle phalanx of middle-finger" EXACT []
xref: UMLS:C4021476
is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger
is_a: HP:0009440 ! Broad phalanges of the 3rd finger
is_a: HP:0009844 ! Broad middle phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T03:41:31Z

[Term]
id: HP:0009431
name: Bullet-shaped middle phalanx of the 3rd finger
def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 3rd finger is affected." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped middle bone of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024367
is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger
is_a: HP:0009441 ! Bullet-shaped phalanges of the 3rd finger
is_a: HP:0009845 ! Bullet-shaped middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T03:41:31Z

[Term]
id: HP:0009432
name: Curved middle phalanx of the 3rd finger
def: "Curved appearance of the middle phalanx of the 3rd (middle) finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curved middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024366
is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger
is_a: HP:0009442 ! Curved phalanges of the 3rd finger
is_a: HP:0009846 ! Curved middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T03:41:31Z

[Term]
id: HP:0009433
name: Osteolytic defects of the middle phalanx of the 3rd finger
def: "Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024365
is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger
is_a: HP:0009443 ! Osteolytic defects of the phalanges of the 3rd finger
is_a: HP:0009847 ! Osteolytic defects of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T03:41:31Z

[Term]
id: HP:0009434
name: Patchy sclerosis of the middle phalanx of the 3rd finger
def: "Uneven (irregular) increase in bone density of the middle phalanx of the third finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Uneven increase in bone density in the middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024364
is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger
is_a: HP:0009444 ! Patchy sclerosis of 3rd finger phalanx
is_a: HP:0009848 ! Patchy sclerosis of middle phalanx of finger
is_a: HP:0100905 ! Sclerosis of the middle phalanx of the 3rd finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T03:41:31Z

[Term]
id: HP:0009435
name: Symphalangism of middle phalanx of 3rd finger
def: "Fusion of the middle phalanx of the 3rd finger with another bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fused middle bone of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024363
is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger
is_a: HP:0009445 ! Symphalangism of the 3rd finger
is_a: HP:0009849 ! Symphalangism of middle phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T03:41:31Z

[Term]
id: HP:0009436
name: Triangular shaped middle phalanx of the 3rd finger
def: "Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Triangular shaped middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024362
is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger
is_a: HP:0009446 ! Triangular shaped phalanges of the 3rd finger
is_a: HP:0009850 ! Triangular shaped middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T03:41:31Z

[Term]
id: HP:0009437
name: Aplasia/Hypoplasia of the middle phalanx of the 3rd finger
synonym: "Absent/small middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024361
is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger
is_a: HP:0009447 ! Aplasia/Hypoplasia of the phalanges of the 3rd finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T03:41:31Z

[Term]
id: HP:0009438
name: Absent middle phalanx of 3rd finger
alt_id: HP:0004173
def: "Absence of the middle phalanx of the middle (3rd) finger." [https://orcid.org/0009-0006-4530-3154]
synonym: "Absent middle bone of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent middle phalanx of middle finger" EXACT []
synonym: "Aplasia of the middle phalanx of the 3rd finger" EXACT []
xref: UMLS:C4021475
is_a: HP:0009437 ! Aplasia/Hypoplasia of the middle phalanx of the 3rd finger
is_a: HP:0009460 ! Aplasia of the 3rd finger
is_a: HP:0010239 ! Aplasia of the middle phalanx of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T03:45:02Z

[Term]
id: HP:0009439
name: Short middle phalanx of the 3rd finger
alt_id: HP:0004177
alt_id: HP:0006212
def: "Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger." [https://orcid.org/0009-0006-4530-3154]
synonym: "Brachymesophalangy III (finger)" EXACT []
synonym: "Hypoplastic/small middle phalanx of the 3rd finger" EXACT []
synonym: "Short middle bone of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021474
is_a: HP:0005819 ! Short middle phalanx of finger
is_a: HP:0009437 ! Aplasia/Hypoplasia of the middle phalanx of the 3rd finger
is_a: HP:0009461 ! Short 3rd finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T03:45:02Z

[Term]
id: HP:0009440
name: Broad phalanges of the 3rd finger
alt_id: HP:0004166
def: "Increased width of the phalanges of the 3rd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Wide bones of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Wide/broad middle finger phalanges" EXACT []
xref: UMLS:C4021473
is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology
is_a: HP:0009768 ! Broad phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T04:09:01Z

[Term]
id: HP:0009441
name: Bullet-shaped phalanges of the 3rd finger
def: "A third finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped bones of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024360
is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology
is_a: HP:0009769 ! Bullet-shaped phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T04:09:01Z

[Term]
id: HP:0009442
name: Curved phalanges of the 3rd finger
def: "Curved appearance of the phalanges of the 3rd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curved bones of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024359
is_a: HP:0004095 ! Curved fingers
is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology
is_a: HP:0009770 ! Curved phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T04:09:01Z

[Term]
id: HP:0009443
name: Osteolytic defects of the phalanges of the 3rd finger
alt_id: HP:0004159
def: "Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Lytic defects of middle finger phalanges" EXACT []
xref: UMLS:C4021472
is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology
is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T04:09:01Z

[Term]
id: HP:0009444
name: Patchy sclerosis of 3rd finger phalanx
alt_id: HP:0004160
def: "Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Patchy sclerosis of middle finger phalanges" EXACT []
synonym: "Patchy sclerosis of the phalanges of the 3rd finger" EXACT []
synonym: "Uneven increase in bone density in middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021471
is_a: HP:0009772 ! Patchy sclerosis of finger phalanx
is_a: HP:0100919 ! Sclerosis of 3rd finger phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T04:09:01Z

[Term]
id: HP:0009445
name: Symphalangism of the 3rd finger
def: "Fusion of two or more bones of the 3rd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fused middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024358
is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology
is_a: HP:0009700 ! Finger symphalangism
is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T04:09:01Z

[Term]
id: HP:0009446
name: Triangular shaped phalanges of the 3rd finger
def: "Triangular shaped phalanges of the 3rd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Triangular shaped bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4024357
is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology
is_a: HP:0009774 ! Triangular shaped phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T04:09:01Z

[Term]
id: HP:0009447
name: Aplasia/Hypoplasia of the phalanges of the 3rd finger
alt_id: HP:0004156
alt_id: HP:0004158
alt_id: HP:0004164
alt_id: HP:0004165
alt_id: HP:0009449
synonym: "Absent/small middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Hypoplastic middle finger phalanges" EXACT []
synonym: "Short middle finger phalanges" EXACT []
synonym: "Small middle finger phalanges" EXACT []
xref: UMLS:C4024356
is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology
is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T04:09:01Z

[Term]
id: HP:0009448
name: obsolete Aplasia of the phalanges of the 3rd finger
is_obsolete: true
consider: HP:0009447

[Term]
id: HP:0009449
name: obsolete Hypoplastic/small phalanges of the 3rd finger
is_obsolete: true
replaced_by: HP:0009447

[Term]
id: HP:0009450
name: Broad proximal phalanx of the 3rd finger
def: "Increased width of the proximal phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad innermost bone of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024355
is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger
is_a: HP:0009440 ! Broad phalanges of the 3rd finger
is_a: HP:0009852 ! Broad proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T04:33:41Z

[Term]
id: HP:0009451
name: Bullet-shaped proximal phalanx of the 3rd finger
def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 3rd finger is affected." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped innermost bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024354
is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger
is_a: HP:0009441 ! Bullet-shaped phalanges of the 3rd finger
is_a: HP:0009853 ! Bullet-shaped proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T04:33:41Z

[Term]
id: HP:0009452
name: Curved proximal phalanx of the 3rd finger
def: "Curved appearance of the proximal phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curved innermost bone of middle finger" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4024353
is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger
is_a: HP:0009442 ! Curved phalanges of the 3rd finger
is_a: HP:0009854 ! Curved proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T04:33:41Z

[Term]
id: HP:0009453
name: Osteolytic defects of the proximal phalanx of the 3rd finger
def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024352
is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger
is_a: HP:0009443 ! Osteolytic defects of the phalanges of the 3rd finger
is_a: HP:0009855 ! Osteolytic defects of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T04:33:41Z

[Term]
id: HP:0009454
name: Patchy sclerosis of the proximal phalanx of the 3rd finger
def: "Uneven (irregular) increase in bone density of the proximal phalanx of the third finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Uneven increase in bone density in the innermost bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024351
is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger
is_a: HP:0009444 ! Patchy sclerosis of 3rd finger phalanx
is_a: HP:0009856 ! Patchy sclerosis of proximal phalanx of finger
is_a: HP:0100909 ! Sclerosis of the proximal phalanx of the 3rd finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T04:33:41Z

[Term]
id: HP:0009455
name: Symphalangism affecting the proximal phalanx of the 3rd finger
def: "Fusion of the proximal phalanx of the 3rd finger with another bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fused innermost bone of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024350
is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger
is_a: HP:0009445 ! Symphalangism of the 3rd finger
is_a: HP:0009857 ! Symphalangism affecting the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T04:33:41Z

[Term]
id: HP:0009456
name: Triangular shaped proximal phalanx of the 3rd finger
def: "Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Triangular shaped innermost bone of middle finger" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4024349
is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger
is_a: HP:0009446 ! Triangular shaped phalanges of the 3rd finger
is_a: HP:0009858 ! Triangular shaped proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T04:33:41Z

[Term]
id: HP:0009457
name: Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger
synonym: "Absent/small innermost bone of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped innermost bone of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024348
is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger
is_a: HP:0009447 ! Aplasia/Hypoplasia of the phalanges of the 3rd finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T04:34:45Z

[Term]
id: HP:0009458
name: Aplasia of the proximal phalanx of the 3rd finger
def: "Absence of the proximal phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent innermost bone of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024347
is_a: HP:0009457 ! Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger
is_a: HP:0009460 ! Aplasia of the 3rd finger
is_a: HP:0010242 ! Aplasia of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T04:35:28Z

[Term]
id: HP:0009459
name: Short proximal phalanx of the 3rd finger
alt_id: HP:0004169
alt_id: HP:0004170
def: "Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger." [https://orcid.org/0009-0006-4530-3154]
synonym: "Hypoplastic/small proximal phalanx of the 3rd finger" EXACT []
synonym: "Short innermost bone of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Short proximal middle-finger phalanx" EXACT []
synonym: "Short proximal phalanx of the third finger" EXACT []
synonym: "Small proximal middle-finger phalanx" EXACT []
xref: UMLS:C4021470
is_a: HP:0009457 ! Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger
is_a: HP:0009461 ! Short 3rd finger
is_a: HP:0010241 ! Short proximal phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T04:35:28Z

[Term]
id: HP:0009460
name: Aplasia of the 3rd finger
def: "Absent 3rd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024346
is_a: HP:0009318 ! Aplasia/Hypoplasia of the 3rd finger
is_a: HP:0009380 ! Finger aplasia
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T04:56:33Z

[Term]
id: HP:0009461
name: Short 3rd finger
alt_id: HP:0004154
def: "Hypoplastic/small 3rd (middle) finger." [https://orcid.org/0009-0006-4530-3154]
synonym: "Hypoplastic/small 3rd finger" EXACT []
synonym: "Short 3rd finger" EXACT layperson []
synonym: "Short middle finger" EXACT layperson []
xref: UMLS:C4021469
is_a: HP:0009318 ! Aplasia/Hypoplasia of the 3rd finger
is_a: HP:0009381 ! Short finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-14T04:57:43Z

[Term]
id: HP:0009462
name: Radial deviation of the 3rd finger
def: "Displacement of the 3rd finger towards the radial side (i.e., towards the thumb)." [https://orcid.org/0009-0006-4530-3154]
synonym: "Inward turned middle finger" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4024345
is_a: HP:0009317 ! Deviation of the 3rd finger
is_a: HP:0009466 ! Radial deviation of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-15T09:35:10Z

[Term]
id: HP:0009463
name: Ulnar deviation of the 3rd finger
alt_id: HP:0005865
alt_id: HP:0006022
def: "Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger)." [https://orcid.org/0009-0006-4530-3154]
synonym: "Ulnar deviation of middle fingers" EXACT []
xref: UMLS:C3554614
is_a: HP:0009317 ! Deviation of the 3rd finger
is_a: HP:0009465 ! Ulnar deviation of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-15T09:35:47Z

[Term]
id: HP:0009464
name: Ulnar deviation of the 2nd finger
alt_id: HP:0004102
alt_id: HP:0005811
def: "Displacement of the 2nd (index) finger towards the ulnar side." [https://orcid.org/0000-0002-0736-9199]
synonym: "Medially deviated index finger" EXACT []
synonym: "Second finger ulnar deviation" EXACT []
synonym: "Ulnar angulation of the index finger" EXACT []
synonym: "Ulnar deviation of index fingers" EXACT []
xref: UMLS:C1844891
is_a: HP:0009465 ! Ulnar deviation of finger
is_a: HP:0009468 ! Deviation of the 2nd finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-15T09:37:48Z

[Term]
id: HP:0009465
name: Ulnar deviation of finger
alt_id: HP:0001200
alt_id: HP:0004096
def: "Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
subset: hposlim_core
synonym: "Finger bends toward pinky" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Ulnar Drift" EXACT []
xref: SNOMEDCT_US:276662009
xref: SNOMEDCT_US:367510009
xref: UMLS:C0231679
is_a: HP:0001193 ! Ulnar deviation of the hand or of fingers of the hand
is_a: HP:0004097 ! Deviation of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-15T09:39:43Z

[Term]
id: HP:0009466
name: Radial deviation of finger
alt_id: HP:0001157
alt_id: HP:0001213
alt_id: HP:0001503
def: "Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
subset: hposlim_core
synonym: "Radially deviated fingers" EXACT []
synonym: "Radially deviated phalanges" EXACT []
xref: UMLS:C1836189
is_a: HP:0004097 ! Deviation of finger
is_a: HP:0009485 ! Radial deviation of the hand or of fingers of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-15T09:40:27Z

[Term]
id: HP:0009467
name: Radial deviation of the 2nd finger
alt_id: HP:0004103
alt_id: HP:0006053
def: "Displacement of the 2nd finger towards the radial side." [https://orcid.org/0000-0002-0736-9199]
synonym: "Radially deviated index finger" EXACT []
xref: UMLS:C1844709
is_a: HP:0009466 ! Radial deviation of finger
is_a: HP:0009468 ! Deviation of the 2nd finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-15T09:40:58Z

[Term]
id: HP:0009468
name: Deviation of the 2nd finger
alt_id: HP:0004101
def: "Displacement of the 2nd finger from its normal position." [https://orcid.org/0000-0002-0736-9199]
synonym: "Deviated index finger" EXACT []
synonym: "Displaced index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021468
is_a: HP:0004097 ! Deviation of finger
is_a: HP:0004100 ! Abnormal 2nd finger morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-15T09:42:36Z

[Term]
id: HP:0009469
name: Contracture of the distal interphalangeal joint of the 3rd finger
def: "Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue." [https://orcid.org/0000-0002-0736-9199]
synonym: "Contracture of the outermost hinge joint of the 3rd finger" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4024344
is_a: HP:0009319 ! Joint contracture of the 3rd finger
is_a: HP:0009697 ! Contracture of the distal interphalangeal joint of the fingers
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-15T09:50:20Z

[Term]
id: HP:0009470
name: Contracture of the metacarpophalangeal joint of the 3rd finger
def: "Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024343
is_a: HP:0009319 ! Joint contracture of the 3rd finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-15T09:50:20Z

[Term]
id: HP:0009471
name: Contracture of the proximal interphalangeal joint of the 3rd finger
def: "Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue." [https://orcid.org/0000-0002-0736-9199]
synonym: "Camptodactyly of the 3rd finger" EXACT []
synonym: "Camptodactyly of the third finger" EXACT []
xref: UMLS:C4021467
is_a: HP:0009319 ! Joint contracture of the 3rd finger
is_a: HP:0100490 ! Camptodactyly of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-15T09:50:20Z

[Term]
id: HP:0009473
name: Joint contracture of the hand
alt_id: HP:0001160
alt_id: HP:0001237
alt_id: HP:0004094
alt_id: HP:0005814
alt_id: HP:0006096
alt_id: HP:0006173
alt_id: HP:0006215
alt_id: HP:0006238
alt_id: HP:0006255
alt_id: HP:0009409
alt_id: HP:0009472
alt_id: HP:0010563
def: "Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue." [https://orcid.org/0009-0006-4530-3154]
subset: hposlim_core
synonym: "Contractures involving the hands" EXACT []
synonym: "Contractures of the hands" EXACT []
xref: MEDDRA:10010821 "Contracture of hand joint"
xref: SNOMEDCT_US:86414002
xref: UMLS:C0158113
is_a: HP:0001155 ! Abnormality of the hand
is_a: HP:0009810 ! Abnormality of upper limb joint
is_a: HP:0100360 ! Upper-limb joint contracture
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-15T09:59:59Z

[Term]
id: HP:0009477
name: Proximal/middle symphalangism of 4th finger
alt_id: HP:0009476
def: "Fusion of the proximal and middle phalanges of the 4th finger." [https://orcid.org/0009-0006-4530-3154]
synonym: "Fused innermost and middle bone of fourth finger" EXACT layperson []
xref: UMLS:C4024342
is_a: HP:0006152 ! Proximal symphalangism of hands
is_a: HP:0009308 ! Symphalangism of middle phalanx of 4th finger
is_a: HP:0009314 ! Symphalangism affecting the proximal phalanx of the 4th finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-15T10:24:03Z

[Term]
id: HP:0009478
name: Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal
def: "Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fused innermost bone of ring finger with 4th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024341
is_a: HP:0005880 ! Metacarpophalangeal synostosis
is_a: HP:0009314 ! Symphalangism affecting the proximal phalanx of the 4th finger
is_a: HP:0009707 ! Synostosis involving the 4th metacarpal
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-15T10:24:03Z

[Term]
id: HP:0009482
name: Proximal/middle symphalangism of 3rd finger
alt_id: HP:0009481
def: "Fusion of the proximal and middle phalanges of the 3rd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fused of innermost and middle bones of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024340
is_a: HP:0006152 ! Proximal symphalangism of hands
is_a: HP:0009435 ! Symphalangism of middle phalanx of 3rd finger
is_a: HP:0009455 ! Symphalangism affecting the proximal phalanx of the 3rd finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-15T10:29:08Z

[Term]
id: HP:0009483
name: Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal
def: "Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fused innermost bones of middle finger with middle long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024339
is_a: HP:0005880 ! Metacarpophalangeal synostosis
is_a: HP:0009455 ! Symphalangism affecting the proximal phalanx of the 3rd finger
is_a: HP:0009706 ! Synostosis involving the 3rd metacarpal
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-15T10:29:08Z

[Term]
id: HP:0009484
name: Deviation of the hand or of fingers of the hand
def: "Displacement of the hand or of fingers of the hand from their normal position." [https://orcid.org/0000-0002-0736-9199]
synonym: "Displaced hand or fingers of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024338
is_a: HP:0005922 ! Abnormal hand morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-15T10:45:01Z

[Term]
id: HP:0009485
name: Radial deviation of the hand or of fingers of the hand
xref: UMLS:C4024337
is_a: HP:0009484 ! Deviation of the hand or of fingers of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-15T10:49:51Z

[Term]
id: HP:0009486
name: Radial deviation of the hand
alt_id: HP:0001203
def: "An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb)." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Radial deviation of hands" EXACT []
xref: SNOMEDCT_US:299035006
xref: UMLS:C0575803
is_a: HP:0009485 ! Radial deviation of the hand or of fingers of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-15T10:51:21Z

[Term]
id: HP:0009487
name: Ulnar deviation of the hand
def: "Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger)." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
subset: hposlim_core
synonym: "Ulnar deviation of hands" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Ulnar deviation of the hands" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:249757009
xref: UMLS:C0241521
is_a: HP:0001193 ! Ulnar deviation of the hand or of fingers of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-15T10:51:52Z

[Term]
id: HP:0009488
name: Absent epiphyses of the 2nd finger
def: "Absence of the epiphyses of the 2nd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent end part of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024336
is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger
is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:07:16Z

[Term]
id: HP:0009489
name: Bracket epiphyses of the 2nd finger
alt_id: HP:0004109
def: "An abnormality of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [PMID:24432108]
synonym: "Bracket shaped end part of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Bracket-epiphyses of index finger" EXACT []
xref: UMLS:C4021466
is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger
is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:07:16Z

[Term]
id: HP:0009490
name: Cone-shaped epiphyses of the 2nd finger
def: "A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cone-shaped end part of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024335
is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger
is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:07:16Z

[Term]
id: HP:0009491
name: Enlarged epiphyses of the 2nd finger
def: "Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlarged end part of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024334
is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger
is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:07:16Z

[Term]
id: HP:0009492
name: Fragmentation of the epiphyses of the 2nd finger
def: "Fragmented appearance of the epiphyses of the 2nd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fragmentation of end part of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024333
is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger
is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:07:16Z

[Term]
id: HP:0009493
name: Irregular epiphyses of the 2nd finger
def: "Irregular radiographic opacity of the epiphyses of the 2nd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular end part of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024332
is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger
is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:07:16Z

[Term]
id: HP:0009494
name: Ivory epiphyses of the 2nd finger
def: "Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased bone density of end part of the index finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024331
is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger
is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand
is_a: HP:0100918 ! Sclerosis of 2nd finger phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:07:16Z

[Term]
id: HP:0009495
name: Pseudoepiphysis of the 2nd finger
alt_id: HP:0004107
alt_id: HP:0006142
def: "A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Accessory index finger epiphysis" EXACT []
xref: UMLS:C4021465
is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger
is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:07:16Z

[Term]
id: HP:0009496
name: Small epiphyses of the 2nd finger
def: "Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small end part of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024330
is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger
is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:07:16Z

[Term]
id: HP:0009497
name: Stippling of the epiphyses of the 2nd finger
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Speckled calcifications in end part of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024329
is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger
is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:07:16Z

[Term]
id: HP:0009498
name: Triangular epiphyses of the 2nd finger
def: "A triangular appearance of the epiphyses of the 2nd finger of the hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Triangular end part of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024328
is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger
is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:07:16Z

[Term]
id: HP:0009499
name: Abnormality of the epiphysis of the distal phalanx of the 2nd finger
alt_id: HP:0004146
synonym: "Abnormality of the end part of the outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Epiphyseal abnormality of terminal index finger phalanx" EXACT []
xref: UMLS:C4021464
is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger
is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger
is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:08:35Z

[Term]
id: HP:0009500
name: Abnormality of the epiphysis of the middle phalanx of the 2nd finger
alt_id: HP:0004135
synonym: "Abnormality of end part of the middle bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Epiphyseal abnormality of middle phalanx of the 2nd finger" EXACT []
xref: UMLS:C4021463
is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger
is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger
is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:08:35Z

[Term]
id: HP:0009501
name: Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
alt_id: HP:0004127
synonym: "Epiphyseal abnormality of the proximal phalanx of the 2nd finger" EXACT []
xref: UMLS:C4021462
is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger
is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger
is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:08:35Z

[Term]
id: HP:0009502
name: Absent epiphysis of the distal phalanx of the 2nd finger
alt_id: HP:0004147
def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent end part of the outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent ossification/absent epiphysis of terminal index finger phalanx" EXACT []
xref: UMLS:C4021461
is_a: HP:0009488 ! Absent epiphyses of the 2nd finger
is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger
is_a: HP:0010246 ! Absent epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:11:04Z

[Term]
id: HP:0009503
name: Bracket epiphysis of the distal phalanx of the 2nd finger
def: "An abnormality of the distal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bracket shaped end part of the outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024327
is_a: HP:0009489 ! Bracket epiphyses of the 2nd finger
is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger
is_a: HP:0010247 ! Bracket epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:11:04Z

[Term]
id: HP:0009504
name: Cone-shaped epiphysis of the distal phalanx of the 2nd finger
def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cone-shaped end part of the outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024326
is_a: HP:0009490 ! Cone-shaped epiphyses of the 2nd finger
is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger
is_a: HP:0010248 ! Cone-shaped epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:11:04Z

[Term]
id: HP:0009505
name: Enlarged epiphysis of the distal phalanx of the 2nd finger
def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlarged end part of the outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024325
is_a: HP:0009491 ! Enlarged epiphyses of the 2nd finger
is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger
is_a: HP:0010249 ! Enlarged epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:11:04Z

[Term]
id: HP:0009506
name: Fragmentation of the epiphysis of the distal phalanx of the 2nd finger
def: "Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fragmentation of end part of the outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024324
is_a: HP:0009492 ! Fragmentation of the epiphyses of the 2nd finger
is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger
is_a: HP:0010250 ! Fragmentation of the epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:11:04Z

[Term]
id: HP:0009507
name: Irregular epiphysis of the distal phalanx of the 2nd finger
def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular end part of the outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024323
is_a: HP:0009493 ! Irregular epiphyses of the 2nd finger
is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger
is_a: HP:0010251 ! Irregular epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:11:04Z

[Term]
id: HP:0009508
name: Ivory epiphysis of the distal phalanx of the 2nd finger
alt_id: HP:0004148
def: "Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased bone density of end part of the outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Ivory epiphysis of terminal index finger phalanx" EXACT []
xref: UMLS:C4021460
is_a: HP:0009494 ! Ivory epiphyses of the 2nd finger
is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger
is_a: HP:0010252 ! Ivory epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:11:04Z

[Term]
id: HP:0009509
name: Pseudoepiphysis of the distal phalanx of the 2nd finger
def: "A secondary ossification center in the distal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024322
is_a: HP:0009495 ! Pseudoepiphysis of the 2nd finger
is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger
is_a: HP:0010253 ! Pseudoepiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:11:04Z

[Term]
id: HP:0009510
name: Small epiphysis of the distal phalanx of the 2nd finger
def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small end part of the outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024321
is_a: HP:0009496 ! Small epiphyses of the 2nd finger
is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger
is_a: HP:0010254 ! Small epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:11:04Z

[Term]
id: HP:0009511
name: Stippling of the epiphysis of the distal phalanx of the 2nd finger
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Speckled calcifications in end part of the outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024320
is_a: HP:0009497 ! Stippling of the epiphyses of the 2nd finger
is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger
is_a: HP:0010255 ! Stippling of the epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:11:04Z

[Term]
id: HP:0009512
name: Triangular epiphysis of the distal phalanx of the 2nd finger
def: "A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [https://orcid.org/0000-0002-0736-9199]
synonym: "Triangular end part of the outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024319
is_a: HP:0009498 ! Triangular epiphyses of the 2nd finger
is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger
is_a: HP:0010256 ! Triangular epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:11:04Z

[Term]
id: HP:0009513
name: Absent epiphysis of the middle phalanx of the 2nd finger
alt_id: HP:0004136
synonym: "Absent epiphyses of middle phalanx of index finger" EXACT []
synonym: "Missing end part of the middle long bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021459
is_a: HP:0009488 ! Absent epiphyses of the 2nd finger
is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger
is_a: HP:0010257 ! Absent epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:12:17Z

[Term]
id: HP:0009514
name: Bracket epiphysis of the middle phalanx of the 2nd finger
def: "An abnormality of the middle phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bracket shaped end part of the middle long bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024318
is_a: HP:0009489 ! Bracket epiphyses of the 2nd finger
is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger
is_a: HP:0010258 ! Bracket epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:12:17Z

[Term]
id: HP:0009515
name: Cone-shaped epiphysis of the middle phalanx of the 2nd finger
alt_id: HP:0004137
synonym: "Cone-shaped end part of the middle long bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Cone-shaped epiphyses of middle phalanx of index finger" EXACT []
xref: UMLS:C4021458
is_a: HP:0009490 ! Cone-shaped epiphyses of the 2nd finger
is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger
is_a: HP:0010259 ! Cone-shaped epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:12:17Z

[Term]
id: HP:0009516
name: Enlarged epiphysis of the middle phalanx of the 2nd finger
synonym: "Enlarged end part of the middle bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024317
is_a: HP:0009491 ! Enlarged epiphyses of the 2nd finger
is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger
is_a: HP:0010260 ! Enlarged epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:12:17Z

[Term]
id: HP:0009517
name: Fragmentation of the epiphysis of the middle phalanx of the 2nd finger
synonym: "Fragmentation of end part of the middle long bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024316
is_a: HP:0009492 ! Fragmentation of the epiphyses of the 2nd finger
is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger
is_a: HP:0010261 ! Fragmentation of the epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:12:17Z

[Term]
id: HP:0009518
name: Irregular epiphysis of the middle phalanx of the 2nd finger
synonym: "Irregular end part of the middle long bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024315
is_a: HP:0009493 ! Irregular epiphyses of the 2nd finger
is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger
is_a: HP:0010262 ! Irregular epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:12:17Z

[Term]
id: HP:0009519
name: Ivory epiphysis of the middle phalanx of the 2nd finger
synonym: "Increased bone density of end part of the middle bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024314
is_a: HP:0009494 ! Ivory epiphyses of the 2nd finger
is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger
is_a: HP:0010263 ! Ivory epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:12:17Z

[Term]
id: HP:0009520
name: Pseudoepiphysis of the middle phalanx of the 2nd finger
def: "A secondary ossification center in the middle phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024313
is_a: HP:0009495 ! Pseudoepiphysis of the 2nd finger
is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger
is_a: HP:0010264 ! Pseudoepiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:12:17Z

[Term]
id: HP:0009521
name: Small epiphysis of the middle phalanx of the 2nd finger
synonym: "Small end part of the innermost long bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024312
is_a: HP:0009496 ! Small epiphyses of the 2nd finger
is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger
is_a: HP:0010265 ! Small epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:12:17Z

[Term]
id: HP:0009522
name: Stippling of the epiphysis of the middle phalanx of the 2nd finger
synonym: "Speckled calcifications in end part of the middle bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024311
is_a: HP:0009497 ! Stippling of the epiphyses of the 2nd finger
is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger
is_a: HP:0010266 ! Stippling of the epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:12:17Z

[Term]
id: HP:0009523
name: Triangular epiphysis of the middle phalanx of the 2nd finger
synonym: "Triangular end part of the middle bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024310
is_a: HP:0009498 ! Triangular epiphyses of the 2nd finger
is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger
is_a: HP:0010267 ! Triangular epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:12:17Z

[Term]
id: HP:0009524
name: Absent epiphysis of the proximal phalanx of the 2nd finger
synonym: "Absent end part of innermost long bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024309
is_a: HP:0009488 ! Absent epiphyses of the 2nd finger
is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
is_a: HP:0010268 ! Absent epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:12:34Z

[Term]
id: HP:0009525
name: Bracket epiphysis of the proximal phalanx of the 2nd finger
alt_id: HP:0004120
def: "An abnormality of the proximal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bracket epiphyses of proximal index finger phalanx" EXACT []
synonym: "Bracket shaped end part of innermost long bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021457
is_a: HP:0009489 ! Bracket epiphyses of the 2nd finger
is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
is_a: HP:0010269 ! Bracket epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:12:34Z

[Term]
id: HP:0009526
name: Cone-shaped epiphysis of the proximal phalanx of the 2nd finger
alt_id: HP:0004128
synonym: "Cone-shaped end part of innermost long bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Cone-shaped epiphysis of proximal index finger phalanx" EXACT []
xref: UMLS:C4021456
is_a: HP:0009490 ! Cone-shaped epiphyses of the 2nd finger
is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
is_a: HP:0010270 ! Cone-shaped epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:12:34Z

[Term]
id: HP:0009527
name: Enlarged epiphysis of the proximal phalanx of the 2nd finger
alt_id: HP:0004129
synonym: "Enlarged end part of innermost long bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Large epiphysis of proximal index finger phalanx" EXACT []
xref: UMLS:C4021455
is_a: HP:0009491 ! Enlarged epiphyses of the 2nd finger
is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
is_a: HP:0010271 ! Enlarged epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:12:34Z

[Term]
id: HP:0009528
name: Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger
synonym: "Fragmentation of end part of innermost long bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024308
is_a: HP:0009492 ! Fragmentation of the epiphyses of the 2nd finger
is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
is_a: HP:0010272 ! Fragmentation of the epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:12:34Z

[Term]
id: HP:0009529
name: Irregular epiphysis of the proximal phalanx of the 2nd finger
synonym: "Irregular end part of innermost long bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024307
is_a: HP:0009493 ! Irregular epiphyses of the 2nd finger
is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
is_a: HP:0010273 ! Irregular epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:12:34Z

[Term]
id: HP:0009530
name: Ivory epiphysis of the proximal phalanx of the 2nd finger
synonym: "Increased bone density of end part of the innermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024306
is_a: HP:0009494 ! Ivory epiphyses of the 2nd finger
is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
is_a: HP:0010274 ! Ivory epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:12:34Z

[Term]
id: HP:0009531
name: Pseudoepiphysis of the proximal phalanx of the 2nd finger
def: "A secondary ossification center in the proximal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024305
is_a: HP:0009495 ! Pseudoepiphysis of the 2nd finger
is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
is_a: HP:0010275 ! Pseudoepiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:12:34Z

[Term]
id: HP:0009532
name: Small epiphysis of the proximal phalanx of the 2nd finger
synonym: "Small end part of proximal long bond of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024304
is_a: HP:0009496 ! Small epiphyses of the 2nd finger
is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
is_a: HP:0010276 ! Small epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:12:34Z

[Term]
id: HP:0009533
name: Stippling of the epiphysis of the proximal phalanx of the 2nd finger
synonym: "Speckled calcifications in end part of the innermost long bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024303
is_a: HP:0009497 ! Stippling of the epiphyses of the 2nd finger
is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
is_a: HP:0010277 ! Stippling of the epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:12:34Z

[Term]
id: HP:0009534
name: Triangular epiphysis of the proximal phalanx of the 2nd finger
alt_id: HP:0004130
synonym: "Triangular end part of innermost long bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Triangular epiphysis of proximal index finger phalanx" EXACT []
xref: UMLS:C4021454
is_a: HP:0009498 ! Triangular epiphyses of the 2nd finger
is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
is_a: HP:0010278 ! Triangular epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-16T01:12:34Z

[Term]
id: HP:0009535
name: Aplasia of the 2nd finger
alt_id: HP:0004106
def: "Absent 2nd (index) finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent index finger phalanges" EXACT []
synonym: "Aplasia of the index finger" EXACT []
xref: UMLS:C4021453
is_a: HP:0006264 ! Aplasia/Hypoplasia of the 2nd finger
is_a: HP:0009380 ! Finger aplasia
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-19T04:18:22Z

[Term]
id: HP:0009536
name: Short 2nd finger
alt_id: HP:0004104
alt_id: HP:0004113
alt_id: HP:0004115
alt_id: HP:0005796
def: "Hypoplasia of the second finger, also known as the index finger." [https://orcid.org/0009-0006-4530-3154]
synonym: "Hypoplastic index finger phalanges" EXACT []
synonym: "Hypoplastic/small index finger" EXACT []
synonym: "Short index finger" EXACT layperson []
synonym: "Short index finger phalanges" EXACT []
synonym: "Short index fingers" EXACT layperson []
xref: UMLS:C1862142
is_a: HP:0006264 ! Aplasia/Hypoplasia of the 2nd finger
is_a: HP:0009381 ! Short finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-19T04:18:22Z

[Term]
id: HP:0009537
name: Flexion contracture of the 2nd finger
def: "Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected." [https://orcid.org/0000-0002-0736-9199]
synonym: "Joint contractures of the 2nd finger" EXACT []
xref: UMLS:C4021452
is_a: HP:0004100 ! Abnormal 2nd finger morphology
is_a: HP:0012785 ! Flexion contracture of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-21T10:10:27Z

[Term]
id: HP:0009538
name: Contracture of the distal interphalangeal joint of the 2nd finger
def: "Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024302
is_a: HP:0009537 ! Flexion contracture of the 2nd finger
is_a: HP:0009697 ! Contracture of the distal interphalangeal joint of the fingers
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-21T10:11:49Z

[Term]
id: HP:0009539
name: Contracture of the metacarpophalangeal joint of the 2nd finger
def: "Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024301
is_a: HP:0009537 ! Flexion contracture of the 2nd finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-21T10:11:49Z

[Term]
id: HP:0009540
name: Contracture of the proximal interphalangeal joint of the 2nd finger
def: "Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue." [https://orcid.org/0000-0002-0736-9199]
synonym: "Camptodactyly of 2nd finger" EXACT []
synonym: "Camptodactyly of index finger" EXACT []
synonym: "Camptodactyly of second finger" EXACT []
xref: UMLS:C4021451
is_a: HP:0009537 ! Flexion contracture of the 2nd finger
is_a: HP:0100490 ! Camptodactyly of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-21T10:11:49Z

[Term]
id: HP:0009541
name: Abnormality of the phalanges of the 2nd finger
alt_id: HP:0004105
def: "Abnormality of the phalanges of the 2nd (index) finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal index finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of 2nd finger phalanges" EXACT []
xref: UMLS:C4021450
is_a: HP:0004100 ! Abnormal 2nd finger morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-21T10:15:07Z

[Term]
id: HP:0009542
name: Abnormality of the distal phalanx of the 2nd finger
alt_id: HP:0004111
alt_id: HP:0004140
synonym: "Abnormality of terminal index finger phalanx" EXACT []
synonym: "Abnormality of the outermost bone of the 2nd finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021449
is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-21T10:17:15Z

[Term]
id: HP:0009543
name: Abnormality of the middle phalanx of the 2nd finger
alt_id: HP:0004131
synonym: "Abnormal middle index finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of middle 2nd finger phalanx" EXACT []
xref: UMLS:C4021448
is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-21T10:17:15Z

[Term]
id: HP:0009544
name: Abnormality of the proximal phalanx of the 2nd finger
alt_id: HP:0004119
synonym: "Abnormal innermost index finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the proximal 2nd finger phalanx" EXACT []
xref: UMLS:C4021447
is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-21T10:17:15Z

[Term]
id: HP:0009545
name: Symphalangism of the 2nd finger
alt_id: HP:0004116
synonym: "Fused index finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Symphalangism of index finger phalanges" EXACT []
xref: UMLS:C4021446
is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger
is_a: HP:0009700 ! Finger symphalangism
is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-21T10:19:34Z

[Term]
id: HP:0009546
name: Triangular shaped phalanges of the 2nd finger
alt_id: HP:0004117
def: "Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Triangular bones of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Triangular index finger phalanges" EXACT []
xref: UMLS:C4021445
is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-21T10:19:34Z

[Term]
id: HP:0009547
name: Broad phalanges of the 2nd finger
alt_id: HP:0004118
synonym: "Wide index finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Wide/broad index finger phalanges" EXACT []
xref: UMLS:C4021444
is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger
is_a: HP:0009768 ! Broad phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-21T10:19:34Z

[Term]
id: HP:0009548
name: Bullet-shaped phalanges of the 2nd finger
def: "A second finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped index finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024300
is_a: HP:0009769 ! Bullet-shaped phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-21T10:20:26Z

[Term]
id: HP:0009549
name: Curved phalanges of the 2nd finger
synonym: "Curved index finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024299
is_a: HP:0004095 ! Curved fingers
is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger
is_a: HP:0009770 ! Curved phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-21T10:20:26Z

[Term]
id: HP:0009550
name: Osteolytic defects of the phalanges of the 2nd finger
alt_id: HP:0004114
synonym: "Lytic defect in index finger phalanges" EXACT []
xref: UMLS:C4021443
is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger
is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-21T10:20:26Z

[Term]
id: HP:0009551
name: Patchy sclerosis of 2nd finger phalanx
def: "Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Patchy sclerosis of the phalanges of the 2nd finger" EXACT []
synonym: "Uneven increase in bone density in index finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021442
is_a: HP:0009772 ! Patchy sclerosis of finger phalanx
is_a: HP:0100918 ! Sclerosis of 2nd finger phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-21T10:20:26Z

[Term]
id: HP:0009552
name: Aplasia/Hypoplasia of the phalanges of the 2nd finger
synonym: "Absent/small index finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped index finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024298
is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger
is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-21T10:20:26Z

[Term]
id: HP:0009553
name: Abnormality of the hairline
def: "The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the hairline" EXACT layperson []
xref: UMLS:C4024297
is_a: HP:0011361 ! Congenital abnormal hair pattern
is_a: HP:0100037 ! Abnormality of the scalp hair
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-21T05:19:14Z

[Term]
id: HP:0009554
name: Preauricular hair displacement
def: "An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hair displacement, preauricular, towards lateral cheekbone" EXACT []
synonym: "Hair growing down to cheek" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Projection of scalp hair onto lateral cheek" EXACT layperson []
xref: UMLS:C4024296
is_a: HP:0009553 ! Abnormality of the hairline
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-21T05:21:54Z

[Term]
id: HP:0009555
name: Hypoplasia of the pharynx
def: "Underdevelopment of the pharynx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased diameter of pharynx" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased length of pharynx" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of pharynx" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased volume of pharynx" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased width of pharynx" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypotrophic pharynx" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Small pharynx" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of pharynx" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4024295
xref: UMLS:C4280396
xref: UMLS:C4280397
xref: UMLS:C4280398
xref: UMLS:C4280399
xref: UMLS:C4280400
is_a: HP:0033151 ! Abnormal pharynx morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-21T05:24:16Z

[Term]
id: HP:0009556
name: Absent tibia
def: "Absence of the tibia." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Absent shankbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent shinbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Aplasia of the tibia" EXACT []
xref: UMLS:C3276744
is_a: HP:0005772 ! Aplasia/Hypoplasia of the tibia
is_a: HP:0009817 ! Aplasia involving bones of the lower limbs
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-27T06:09:44Z

[Term]
id: HP:0009557
name: Aplasia/Hypoplasia of the distal phalanx of the 2nd finger
synonym: "Absent/small outermost index finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped outermost index finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024294
is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger
is_a: HP:0009552 ! Aplasia/Hypoplasia of the phalanges of the 2nd finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-28T04:16:02Z

[Term]
id: HP:0009558
name: Broad distal phalanx of the 2nd finger
def: "Increased width of the distal phalanx of the 2nd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Wide outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024293
is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger
is_a: HP:0009547 ! Broad phalanges of the 2nd finger
is_a: HP:0009836 ! Broad distal phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-28T04:16:02Z

[Term]
id: HP:0009559
name: Bullet-shaped distal phalanx of the 2nd finger
def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024292
is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger
is_a: HP:0009548 ! Bullet-shaped phalanges of the 2nd finger
is_a: HP:0009837 ! Bullet-shaped distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-28T04:16:02Z

[Term]
id: HP:0009560
name: Curved distal phalanx of the 2nd finger
def: "Curved appearance of the distal phalanx of the 2nd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curved outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024291
is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger
is_a: HP:0009549 ! Curved phalanges of the 2nd finger
is_a: HP:0009838 ! Curved distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-28T04:16:02Z

[Term]
id: HP:0009561
name: Osteolytic defects of the distal phalanx of the 2nd finger
alt_id: HP:0004108
alt_id: HP:0004142
def: "Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Acro-osteolysis of index finger" EXACT []
synonym: "Acro-osteolysis of terminal index finger phalanx" EXACT []
synonym: "Osteolytic defects of the outermost bone of the 2nd finger" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021441
is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger
is_a: HP:0009550 ! Osteolytic defects of the phalanges of the 2nd finger
is_a: HP:0009839 ! Osteolytic defects of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-28T04:16:02Z

[Term]
id: HP:0009562
name: Patchy sclerosis of the distal phalanx of the 2nd finger
def: "Uneven (irregular) increase in bone density of the distal phalanx of the second finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Uneven increase in bone density in the outermost bone of the 2nd finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024290
is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger
is_a: HP:0009551 ! Patchy sclerosis of 2nd finger phalanx
is_a: HP:0009840 ! Patchy sclerosis of distal phalanx of finger
is_a: HP:0100900 ! Sclerosis of the distal phalanx of the 2nd finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-28T04:16:02Z

[Term]
id: HP:0009563
name: Distal/middle symphalangism of 2nd finger
alt_id: HP:0009567
alt_id: HP:0009578
def: "Fusion of the terminal/distal and middle phalanges of the 2nd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fused outermost and middle index finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Symphalangism of the distal and middle phalanges of the 2nd finger" EXACT []
xref: UMLS:C4021440
is_a: HP:0001204 ! Distal symphalangism of hands
is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger
is_a: HP:0009574 ! Symphalangism of middle phalanx of 2nd finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-28T04:16:02Z

[Term]
id: HP:0009564
name: Triangular shaped distal phalanx of the 2nd finger
def: "Triangular shaped distal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Triangular shaped outermost bone of the 2nd finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024289
is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger
is_a: HP:0009546 ! Triangular shaped phalanges of the 2nd finger
is_a: HP:0009875 ! Triangular shaped distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-28T04:16:02Z

[Term]
id: HP:0009565
name: Aplasia of the distal phalanx of the 2nd finger
alt_id: HP:0004141
alt_id: HP:0005748
synonym: "Absent outermost index finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent terminal index finger phalanx" EXACT []
xref: UMLS:C4021439
is_a: HP:0009535 ! Aplasia of the 2nd finger
is_a: HP:0009557 ! Aplasia/Hypoplasia of the distal phalanx of the 2nd finger
is_a: HP:0009881 ! Aplasia of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-28T04:20:22Z

[Term]
id: HP:0009566
name: Short distal phalanx of the 2nd finger
alt_id: HP:0004145
def: "Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic terminal index finger phalanx" EXACT []
synonym: "Hypoplastic/small distal phalanx of the 2nd finger" EXACT []
synonym: "Short distal phalanx of the second finger" EXACT []
synonym: "Short outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Short terminal index finger phalanx" EXACT []
xref: UMLS:C4021438
is_a: HP:0009536 ! Short 2nd finger
is_a: HP:0009557 ! Aplasia/Hypoplasia of the distal phalanx of the 2nd finger
is_a: HP:0009882 ! Short distal phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-28T04:20:22Z

[Term]
id: HP:0009568
name: Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
alt_id: HP:0006221
synonym: "Absent/hypoplastic middle phalanx of 2nd finger" EXACT []
synonym: "Absent/small middle index finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped middle index finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Hypoplastic/aplastic middle phalanx of index finger" EXACT []
xref: UMLS:C1862144
is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger
is_a: HP:0009552 ! Aplasia/Hypoplasia of the phalanges of the 2nd finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-28T05:10:24Z

[Term]
id: HP:0009569
name: Broad middle phalanx of the 2nd finger
def: "Increased width of the middle phalanx of the second finger." [https://orcid.org/0009-0006-4530-3154]
synonym: "Broad middle bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024288
is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger
is_a: HP:0009547 ! Broad phalanges of the 2nd finger
is_a: HP:0009844 ! Broad middle phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-28T05:10:24Z

[Term]
id: HP:0009570
name: Bullet-shaped middle phalanx of the 2nd finger
def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped middle bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024287
is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger
is_a: HP:0009548 ! Bullet-shaped phalanges of the 2nd finger
is_a: HP:0009845 ! Bullet-shaped middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-28T05:10:24Z

[Term]
id: HP:0009571
name: Curved middle phalanx of the 2nd finger
def: "Curved appearance of the middle phalanx of the 2nd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curved middle bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024286
is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger
is_a: HP:0009549 ! Curved phalanges of the 2nd finger
is_a: HP:0009846 ! Curved middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-28T05:10:24Z

[Term]
id: HP:0009572
name: Osteolytic defects of the middle phalanx of the 2nd finger
alt_id: HP:0004134
def: "Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Lytic defects of middle index finger phalanx" EXACT []
xref: UMLS:C4021437
is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger
is_a: HP:0009550 ! Osteolytic defects of the phalanges of the 2nd finger
is_a: HP:0009847 ! Osteolytic defects of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-28T05:10:24Z

[Term]
id: HP:0009573
name: Patchy sclerosis of the middle phalanx of the 2nd finger
def: "Uneven (irregular) increase in bone density of the middle phalanx of the second finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Uneven increase in bone density in the middle bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024285
is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger
is_a: HP:0009551 ! Patchy sclerosis of 2nd finger phalanx
is_a: HP:0009848 ! Patchy sclerosis of middle phalanx of finger
is_a: HP:0100904 ! Sclerosis of the middle phalanx of the 2nd finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-28T05:10:24Z

[Term]
id: HP:0009574
name: Symphalangism of middle phalanx of 2nd finger
def: "Fusion of the middle phalanx of the 2nd finger with another bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fused middle bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024284
is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger
is_a: HP:0009545 ! Symphalangism of the 2nd finger
is_a: HP:0009849 ! Symphalangism of middle phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-28T05:10:24Z

[Term]
id: HP:0009575
name: Triangular shaped middle phalanx of the 2nd finger
def: "Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Triangular shaped middle bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024283
is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger
is_a: HP:0009546 ! Triangular shaped phalanges of the 2nd finger
is_a: HP:0009850 ! Triangular shaped middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-28T05:10:24Z

[Term]
id: HP:0009576
name: Absent middle phalanx of 2nd finger
alt_id: HP:0005760
def: "Absence of the middle phalanx of the index (2nd) finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent middle bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent middle phalanx of index finger" EXACT []
synonym: "Aplasia of the middle phalanx of the 2nd finger" EXACT []
xref: UMLS:C4021436
is_a: HP:0009535 ! Aplasia of the 2nd finger
is_a: HP:0009568 ! Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
is_a: HP:0010239 ! Aplasia of the middle phalanx of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-28T05:15:55Z

[Term]
id: HP:0009577
name: Short middle phalanx of the 2nd finger
alt_id: HP:0004133
def: "Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger." [https://orcid.org/0009-0006-4530-3154]
synonym: "Brachymesophalangy II (finger)" EXACT []
synonym: "Hypoplastic middle index finger phalanx" EXACT []
synonym: "Hypoplastic/small middle phalanx of the 2nd finger" EXACT []
synonym: "Short middle bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021435
is_a: HP:0005819 ! Short middle phalanx of finger
is_a: HP:0009536 ! Short 2nd finger
is_a: HP:0009568 ! Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-28T05:15:55Z

[Term]
id: HP:0009579
name: Proximal/middle symphalangism of the 2nd finger
def: "Fusion of the proximal and middle phalanges of the 2nd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fused innermost and middle index finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024282
is_a: HP:0006152 ! Proximal symphalangism of hands
is_a: HP:0009574 ! Symphalangism of middle phalanx of 2nd finger
is_a: HP:0009586 ! Symphalangism affecting the proximal phalanx of the 2nd finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-28T05:23:12Z

[Term]
id: HP:0009580
name: Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger
synonym: "Absent/small innermost index finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped innermost index finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024281
is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger
is_a: HP:0009552 ! Aplasia/Hypoplasia of the phalanges of the 2nd finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-28T05:26:39Z

[Term]
id: HP:0009581
name: Broad proximal phalanx of the 2nd finger
alt_id: HP:0004126
def: "Increased width of the proximal phalanx of the 2nd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Wide innermost bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Wide/broad proximal index finger phalanx" EXACT []
xref: UMLS:C4021434
is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger
is_a: HP:0009547 ! Broad phalanges of the 2nd finger
is_a: HP:0009852 ! Broad proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-28T05:26:39Z

[Term]
id: HP:0009582
name: Bullet-shaped proximal phalanx of the 2nd finger
def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 2nd finger is affected." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped innermost bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024280
is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger
is_a: HP:0009548 ! Bullet-shaped phalanges of the 2nd finger
is_a: HP:0009853 ! Bullet-shaped proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-28T05:26:39Z

[Term]
id: HP:0009583
name: Curved proximal phalanx of the 2nd finger
def: "Curved appearance of the proximal phalanx of the 2nd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curved innermost bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024279
is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger
is_a: HP:0009549 ! Curved phalanges of the 2nd finger
is_a: HP:0009854 ! Curved proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-28T05:26:39Z

[Term]
id: HP:0009584
name: Osteolytic defects of the proximal phalanx of the 2nd finger
alt_id: HP:0004123
def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Lytic defects of proximal index finger phalanx" EXACT []
xref: UMLS:C4021433
is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger
is_a: HP:0009550 ! Osteolytic defects of the phalanges of the 2nd finger
is_a: HP:0009855 ! Osteolytic defects of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-28T05:26:39Z

[Term]
id: HP:0009585
name: Patchy sclerosis of the proximal phalanx of the 2nd finger
def: "Uneven (irregular) increase in bone density of the proximal phalanx of the second finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Uneven increase in bone density in innermost index finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024278
is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger
is_a: HP:0009551 ! Patchy sclerosis of 2nd finger phalanx
is_a: HP:0009856 ! Patchy sclerosis of proximal phalanx of finger
is_a: HP:0100908 ! Sclerosis of the proximal phalanx of the 2nd finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-28T05:26:39Z

[Term]
id: HP:0009586
name: Symphalangism affecting the proximal phalanx of the 2nd finger
def: "Fusion of the proximal phalanx of the 2nd finger with another bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fused innermost bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024277
is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger
is_a: HP:0009545 ! Symphalangism of the 2nd finger
is_a: HP:0009857 ! Symphalangism affecting the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-28T05:26:39Z

[Term]
id: HP:0009587
name: Triangular shaped proximal phalanx of the 2nd finger
alt_id: HP:0004125
def: "Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Triangular proximal index finger phalanx" EXACT []
synonym: "Triangular shaped innermost bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021432
is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger
is_a: HP:0009546 ! Triangular shaped phalanges of the 2nd finger
is_a: HP:0009858 ! Triangular shaped proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-28T05:26:39Z

[Term]
id: HP:0009588
name: Vestibular schwannoma
def: "A vestibular schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Acoustic Neuroma" EXACT []
synonym: "Vestibular neurilemmoma" EXACT []
synonym: "Vestibular neurinoma" EXACT []
synonym: "Vestibular neurolemmoma" EXACT []
synonym: "Vestibular Schwann cell tumor" EXACT []
synonym: "Vestibular Schwann cell tumour" EXACT uk_spelling []
xref: NCIT:C3269
xref: SNOMEDCT_US:126949007
xref: SNOMEDCT_US:985004
xref: UMLS:C0027859
is_a: HP:0009591 ! Abnormal vestibulocochlear nerve morphology
is_a: HP:0040096 ! Neoplasm of the inner ear
is_a: HP:0100008 ! Schwannoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-28T10:37:32Z

[Term]
id: HP:0009589
name: Bilateral vestibular schwannoma
def: "A bilateral vestibular schwannoma (acoustic neurinoma)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bilateral acoustic neuromas" EXACT []
xref: UMLS:C1136042
is_a: HP:0009588 ! Vestibular schwannoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-28T10:39:14Z

[Term]
id: HP:0009590
name: Unilateral vestibular schwannoma
def: "A unilateral vestibular schwannoma (acoustic neurinoma)." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1863653
is_a: HP:0009588 ! Vestibular schwannoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-28T10:40:23Z

[Term]
id: HP:0009591
name: Abnormal vestibulocochlear nerve morphology
def: "Any structural anomaly of the vestibulocochlear nerve. The vestibulocochlear nerve consists of the vestibular and cochlear nerves, also known as cranial nerve eight (CN VIII). Each nerve has distinct nuclei within the brainstem. The vestibular nerve is primarily responsible for maintaining body balance and eye movements, while the cochlear nerve is responsible for hearing." [https://orcid.org/0000-0002-0736-9199, PMID:30726044]
synonym: "Abnormal eighth cranial nerve morphology" EXACT []
synonym: "Abnormality of the vestibulocochlear nerve" EXACT []
synonym: "Abnormality of the VIIIth cranial nerve" EXACT []
xref: UMLS:C4021431
is_a: HP:0001291 ! Abnormal cranial nerve morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-28T10:42:57Z

[Term]
id: HP:0009592
name: Astrocytoma
def: "Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:38713004
xref: UMLS:C0004114
is_a: HP:0009733 ! Glioma
is_a: HP:0100707 ! Abnormal astrocyte morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-28T10:51:01Z

[Term]
id: HP:0009593
name: Peripheral schwannoma
def: "The presence of a peripheral schwannoma." [https://orcid.org/0000-0002-0736-9199]
comment: A Peripheral schwannoma (also known as neurilemoma) is a benign, usually encapsulated neoplasm derived from Schwann cells.
xref: UMLS:C4024276
is_a: HP:0008069 ! Neoplasm of the skin
is_a: HP:0100008 ! Schwannoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-28T10:55:58Z

[Term]
id: HP:0009594
name: Retinal hamartoma
def: "A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1863411
is_a: HP:0000479 ! Abnormal retinal morphology
is_a: HP:0010568 ! Hamartoma of the eye
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-28T10:58:47Z

[Term]
id: HP:0009595
name: obsolete Occasional neurofibromas
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
is_obsolete: true
replaced_by: HP:0001067
creation_date: 2009-01-28T11:12:19Z

[Term]
id: HP:0009596
name: Aplasia of the proximal phalanx of the 2nd finger
def: "Absence of the proximal phalanx of the 2nd finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent innermost bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024275
is_a: HP:0009535 ! Aplasia of the 2nd finger
is_a: HP:0009580 ! Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger
is_a: HP:0010242 ! Aplasia of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T10:19:36Z

[Term]
id: HP:0009597
name: Short proximal phalanx of the 2nd finger
alt_id: HP:0004124
def: "Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger." [https://orcid.org/0009-0006-4530-3154]
synonym: "Hypoplastic/small proximal phalanx of the 2nd finger" EXACT []
synonym: "Short proximal index finger phalanx" EXACT []
synonym: "Short proximal phalanx of the second finger" EXACT []
xref: UMLS:C4021430
is_a: HP:0009536 ! Short 2nd finger
is_a: HP:0009580 ! Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger
is_a: HP:0010241 ! Short proximal phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T10:19:36Z

[Term]
id: HP:0009598
name: Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal
def: "Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fused innermost bone of index finger with 2nd long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024274
is_a: HP:0005880 ! Metacarpophalangeal synostosis
is_a: HP:0009586 ! Symphalangism affecting the proximal phalanx of the 2nd finger
is_a: HP:0009705 ! Synostosis involving the 2nd metacarpal
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T10:21:45Z

[Term]
id: HP:0009599
name: Abnormality of thumb epiphysis
alt_id: HP:0004074
def: "Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal." [https://orcid.org/0000-0002-0736-9199]
comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).
synonym: "Abnormality of end part of thumb long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the epiphyses of the thumb" EXACT []
synonym: "Abnormality of thumb epiphyses" EXACT []
xref: UMLS:C4021429
is_a: HP:0001172 ! Abnormal thumb morphology
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T11:46:15Z

[Term]
id: HP:0009600
name: Thumb contracture
alt_id: HP:0004061
alt_id: HP:0006043
def: "Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the thumb joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected." [https://orcid.org/0000-0002-0736-9199, PMID:16214063, PMID:24975760, PMID:31282072]
synonym: "Contracture of thumb" EXACT []
synonym: "Flexion deformities of thumbs" EXACT []
synonym: "Joint contractures of the thumb" EXACT []
synonym: "Thumb joint contracture" EXACT []
xref: SNOMEDCT_US:239736003
xref: UMLS:C0409346
is_a: HP:0001172 ! Abnormal thumb morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T01:06:31Z

[Term]
id: HP:0009601
name: Aplasia/Hypoplasia of the thumb
alt_id: HP:0002950
alt_id: HP:0006225
def: "Hypoplastic/small or absent thumb." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent or hypoplastic thumbs" EXACT []
synonym: "Absent/hypoplastic thumb" EXACT []
synonym: "Absent/hypoplastic thumbs" EXACT []
synonym: "Absent/small thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Aplasia/hypoplasia of thumbs" EXACT []
synonym: "Aplastic/hypoplastic thumbs" EXACT []
synonym: "Hypoplastic to aplastic thumbs" EXACT []
synonym: "Hypoplastic/absent thumb" EXACT []
synonym: "Thumb aplasia/hypoplasia" EXACT []
xref: UMLS:C3179508
is_a: HP:0001172 ! Abnormal thumb morphology
is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T01:08:24Z

[Term]
id: HP:0009602
name: Abnormality of thumb phalanx
alt_id: HP:0004063
alt_id: HP:0004064
def: "A structural anomaly of one or more phalanges of the thumb." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the thumb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of thumb phalanges" EXACT []
xref: UMLS:C4021428
is_a: HP:0001172 ! Abnormal thumb morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T01:10:39Z

[Term]
id: HP:0009603
name: Deviation of the thumb
alt_id: HP:0004062
def: "Displacement of the thumb from its normal position." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal thumb placement" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Deviated thumb" EXACT []
synonym: "Displacement of the thumb" EXACT []
xref: UMLS:C3552414
is_a: HP:0001172 ! Abnormal thumb morphology
is_a: HP:0004097 ! Deviation of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T01:49:57Z

[Term]
id: HP:0009606
name: Complete duplication of distal phalanx of the thumb
alt_id: HP:0004084
alt_id: HP:0005784
def: "Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side." [https://orcid.org/0000-0002-0736-9199]
synonym: "Complete duplication of outermost bone of the thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021427
is_a: HP:0009612 ! Duplication of the distal phalanx of the thumb
is_a: HP:0009943 ! Complete duplication of thumb phalanx
is_a: HP:0010001 ! Complete duplication of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T03:28:16Z

[Term]
id: HP:0009608
name: Complete duplication of proximal phalanx of the thumb
alt_id: HP:0004078
def: "Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0000-0002-0736-9199]
synonym: "Complete duplication of the innermost bone of the thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024273
is_a: HP:0009613 ! Duplication of the proximal phalanx of the thumb
is_a: HP:0009943 ! Complete duplication of thumb phalanx
is_a: HP:0010002 ! Complete duplication of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T03:32:28Z

[Term]
id: HP:0009609
name: Duplication of the 1st metacarpal
def: "Partail or complete duplication of the first metacarpal bone." [https://orcid.org/0000-0002-0736-9199]
comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin. This term applies if the first metacarpal is completely or partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched metacarpal (the duplicated bone is almost completely fused with the metacarpal), a partially fused appearance of the two bones (in most cases the fused bone resembles a Y-shape), or two separate metacarpal bones appearing side to side.
synonym: "Partial/complete duplication of the 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial/complete duplication of the 1st metacarpal" EXACT []
xref: UMLS:C4021426
is_a: HP:0010006 ! Duplication of the proximal phalanx of hand
is_a: HP:0010009 ! Abnormal 1st metacarpal morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T03:33:31Z

[Term]
id: HP:0009611
name: Bifid distal phalanx of the thumb
alt_id: HP:0004086
alt_id: HP:0005703
alt_id: HP:0005827
alt_id: HP:0005848
alt_id: HP:0006090
def: "Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones." [https://orcid.org/0009-0006-4530-3154]
comment: Note that with bifid distal phalanx, the terminal phalanx of the thumb is clefted but is still one bone. With duplication of the terminal phalanx of the thumb, the distal phalanx is split into two bones that are located side by side. With triphalangeal thumb, the thumb has three phalanxes located one after the other.
synonym: "Bifid distal phalanx of thumb" EXACT []
synonym: "Bifid terminal phalanges of thumbs" EXACT []
synonym: "Bifid thumb distal phalanx" EXACT []
synonym: "Incipient distal thumb phalanx duplication" EXACT []
synonym: "Notched outermost bone of the thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Notched outermost bone of thumb" EXACT []
synonym: "Notched terminal thumb phalanx" EXACT []
xref: UMLS:C1860162
is_a: HP:0009612 ! Duplication of the distal phalanx of the thumb
is_a: HP:0009944 ! Partial duplication of thumb phalanx
is_a: HP:0010004 ! Partial duplication of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T03:48:49Z

[Term]
id: HP:0009612
name: Duplication of the distal phalanx of the thumb
def: "Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side." [https://orcid.org/0009-0006-4530-3154]
synonym: "Double thumb distal phalanges" EXACT []
synonym: "Duplicated terminal phalanx of thumb" EXACT []
synonym: "Duplication of distal thumb phalanx" EXACT []
synonym: "Duplication of terminal thumb phalanx" EXACT []
synonym: "Duplication of the outermost bone of the thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial/complete duplication of the distal phalanx of the thumb" EXACT []
xref: UMLS:C4021425
is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb
is_a: HP:0009883 ! Duplication of the distal phalanx of hand
is_a: HP:0009942 ! Duplication of thumb phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T03:51:43Z

[Term]
id: HP:0009613
name: Duplication of the proximal phalanx of the thumb
def: "Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0009-0006-4530-3154]
synonym: "Notched innermost bone of thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial/complete duplication of the proximal phalanx of the thumb" EXACT []
xref: UMLS:C4021424
is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb
is_a: HP:0009942 ! Duplication of thumb phalanx
is_a: HP:0010008 ! Duplication of the middle phalanx of hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T03:59:56Z

[Term]
id: HP:0009614
name: Bifid proximal phalanx of the thumb
def: "This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0000-0002-0736-9199]
synonym: "Notched thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024272
is_a: HP:0009613 ! Duplication of the proximal phalanx of the thumb
is_a: HP:0009944 ! Partial duplication of thumb phalanx
is_a: HP:0010005 ! Partial duplication of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T04:01:27Z

[Term]
id: HP:0009615
name: Complete duplication of the first metacarpal
def: "Complete duplication of the first metacarpal bone." [https://orcid.org/0000-0002-0736-9199]
comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin, equivalent to the proximal phalanges of the other digits. This term applies if the first metacarpal is completely duplicated. On x-ray two separate metacarpal bones appear side to side. This term applies if the first metacarpal is completely duplicated.
synonym: "Complete duplication of the first long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024271
is_a: HP:0009609 ! Duplication of the 1st metacarpal
is_a: HP:0010000 ! Complete duplication of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T04:06:17Z

[Term]
id: HP:0009616
name: Bifid first metacarpal
def: "Partial duplication of the first metacarpal bone." [https://orcid.org/0000-0002-0736-9199]
comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin (equivalent to the proximal phalanges of the other digits). This term applies if the first metacarpal is partially duplicated. Depending on the severity the appearance on x-ray can vary from a notched metacarpal (the duplicated bone is almost completely fused with the metacarpal) to a partially fused appearance of the two bones. In most cases the fused bone resembles a Y-shape.
synonym: "Notched first long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "partial duplication of the first metacarpal" EXACT []
xref: UMLS:C4021423
is_a: HP:0009609 ! Duplication of the 1st metacarpal
is_a: HP:0010003 ! Partial duplication of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T04:06:17Z

[Term]
id: HP:0009617
name: Abnormality of the distal phalanx of the thumb
alt_id: HP:0004081
def: "Any anomaly of the distal phalanx of thumb." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of terminal thumb phalanx" EXACT []
synonym: "Abnormality of the outermost bone of the thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021422
is_a: HP:0009602 ! Abnormality of thumb phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T04:13:47Z

[Term]
id: HP:0009618
name: Abnormality of the proximal phalanx of the thumb
alt_id: HP:0004076
def: "An anomaly of the shape or form of the proximal phalanx of the thumb." [https://orcid.org/0000-0002-0736-9199]
comment: In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. {xref="https://orcid.org/0000-0002-0736-9199"}
synonym: "Abnormal innermost thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of proximal thumb phalanx" EXACT []
xref: UMLS:C4021421
is_a: HP:0009602 ! Abnormality of thumb phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T04:13:47Z

[Term]
id: HP:0009620
name: obsolete Radial deviation of the thumb
is_obsolete: true
replaced_by: HP:0001234

[Term]
id: HP:0009621
name: obsolete Ulnar deviation of the thumb
is_obsolete: true
consider: HP:0009602

[Term]
id: HP:0009622
name: Distally placed thumb
alt_id: HP:0005755
def: "Insertion of thumb at a more distal location than normal." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024270
is_a: HP:0009603 ! Deviation of the thumb
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T04:40:23Z

[Term]
id: HP:0009623
name: Proximal placement of thumb
alt_id: HP:0001170
alt_id: HP:0005668
def: "Proximal mislocalization of the thumb." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
comment: Thumb placement index greater than 0.55; or, the base of the thumb appears closer to the wrist than is typical. The technique for the thumb placement index is described in detail [Malina et al., 1973; Hall et al., 2007]. Briefly, the thumb placement index is the distance from the proximal crease of the index finger to the angle of the first interdigital space divided by the distance from the proximal crease of the index finger to the wrist flexion crease at the base of the thumb. This term should not be used with Preaxial polydactyly.
subset: hposlim_core
synonym: "Attachment of thumb close to wrist" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Low implantation of the thumb" EXACT []
synonym: "Low-set thumb" EXACT []
synonym: "Proximally placed thumbs" EXACT []
xref: UMLS:C1865572
is_a: HP:0009603 ! Deviation of the thumb
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T04:40:23Z

[Term]
id: HP:0009624
name: Carpometacarpal thumb joint contracture
def: "Chronic loss of joint motion of the carpometacarpal joint of the thumb due to structural changes in non-bony tissue. This joint is formed by the first metacarpal and the trapezial bone and is also called Articulatio carpometacarpalis pollicis, carpometacarpal articulation of thumb, carpometacarpal joint of thumb or first carpometacarpal articulation. Seldom referred to as thumb saddle joint." [https://orcid.org/0000-0002-0736-9199]
synonym: "Contracture of the carpometacarpal joint of the thumb" EXACT []
xref: UMLS:C4024269
is_a: HP:0009600 ! Thumb contracture
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T04:52:18Z

[Term]
id: HP:0009625
name: Metacarpophalangeal thumb joint contracture
def: "Chronic loss of joint motion of the metacarpophalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio metacarpophalangealis pollicis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Contracture of the metacarpophalangeal joint of the thumb" EXACT []
xref: UMLS:C2108151
is_a: HP:0009600 ! Thumb contracture
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T04:52:18Z

[Term]
id: HP:0009626
name: Interphalangeal thumb joint contracture
alt_id: HP:0005697
def: "Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Contracture of the interphalangeal joint of the thumb" EXACT []
synonym: "Interphalangeal extension contractures of thumbs" EXACT []
xref: UMLS:C2108146
is_a: HP:0001220 ! Interphalangeal joint contracture of finger
is_a: HP:0009600 ! Thumb contracture
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T04:52:18Z

[Term]
id: HP:0009629
name: Aplasia/Hypoplasia of the proximal phalanx of the thumb
def: "This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small innermost thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped innermost thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024268
is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb
is_a: HP:0009658 ! Aplasia/Hypoplasia of the phalanges of the thumb
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T05:09:41Z

[Term]
id: HP:0009630
name: Broad proximal phalanx of the thumb
def: "Increased width of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad innermost thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024267
is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb
is_a: HP:0009844 ! Broad middle phalanx of finger
is_a: HP:0009852 ! Broad proximal phalanges of the hand
is_a: HP:0011304 ! Broad thumb
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T05:09:41Z

[Term]
id: HP:0009631
name: Bullet-shaped proximal phalanx of the thumb
def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the thumb is affected." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped innermost thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024266
is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb
is_a: HP:0009652 ! Bullet-shaped thumb phalanx
is_a: HP:0009845 ! Bullet-shaped middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T05:09:41Z

[Term]
id: HP:0009632
name: Curved proximal phalanx of the thumb
def: "A deviation from the normal straight shape of the proximal phalanx of the thumb." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curved innermost thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024265
is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb
is_a: HP:0009653 ! Curved thumb phalanx
is_a: HP:0009846 ! Curved middle phalanges of the hand
is_a: HP:0009854 ! Curved proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T05:09:41Z

[Term]
id: HP:0009633
name: Osteolytic defect of the proximal phalanx of the thumb
def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the thumb." [https://orcid.org/0000-0002-0736-9199]
synonym: "Osteolytic defects of the proximal phalanx of the thumb" EXACT []
xref: UMLS:C4021420
is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb
is_a: HP:0009654 ! Osteolytic defect of thumb phalanx
is_a: HP:0009847 ! Osteolytic defects of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T05:09:41Z

[Term]
id: HP:0009634
name: Patchy sclerosis of the proximal phalanx of the thumb
def: "An uneven increase in bone density of the proximal phalanx of the thumb." [https://orcid.org/0000-0002-0736-9199]
synonym: "Uneven increase in bone density in the innermost thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024264
is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb
is_a: HP:0009655 ! Patchy sclerosis of thumb phalanx
is_a: HP:0009848 ! Patchy sclerosis of middle phalanx of finger
is_a: HP:0100913 ! Sclerosis of the proximal phalanx of the thumb
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T05:09:41Z

[Term]
id: HP:0009635
name: Synostosis of thumb phalanx
def: "Fusion of a phalanx of the thumb with another bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fusion of thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024263
is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb
is_a: HP:0009849 ! Symphalangism of middle phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T05:09:41Z

[Term]
id: HP:0009636
name: Triangular shaped proximal phalanx of the thumb
alt_id: HP:0004080
def: "Triangular shaped proximal phalanx of the thumb." [https://orcid.org/0000-0002-0736-9199]
synonym: "Triangular innermost thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Triangular proximal thumb phalanx" EXACT []
xref: UMLS:C4021419
is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb
is_a: HP:0009657 ! Triangular shaped thumb phalanx
is_a: HP:0009850 ! Triangular shaped middle phalanges of the hand
is_a: HP:0009858 ! Triangular shaped proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T05:09:41Z

[Term]
id: HP:0009637
name: Absent proximal phalanx of thumb
alt_id: HP:0004077
def: "Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent innermost thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent ossification/absent proximal thumb phalanx" EXACT []
synonym: "Aplasia of the proximal phalanx of the thumb" EXACT []
xref: UMLS:C4021418
is_a: HP:0009629 ! Aplasia/Hypoplasia of the proximal phalanx of the thumb
is_a: HP:0009659 ! Partial absence of thumb
is_a: HP:0010239 ! Aplasia of the middle phalanx of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T05:11:02Z

[Term]
id: HP:0009638
name: Short proximal phalanx of thumb
alt_id: HP:0004079
alt_id: HP:0006073
def: "Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic/small proximal phalanx of the thumb" EXACT []
synonym: "Short proximal phalanges of thumb" EXACT []
synonym: "Short proximal thumb bone" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Short proximal thumb phalanx" EXACT []
xref: UMLS:C1855091
is_a: HP:0005819 ! Short middle phalanx of finger
is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb
is_a: HP:0009629 ! Aplasia/Hypoplasia of the proximal phalanx of the thumb
is_a: HP:0009660 ! Short phalanx of the thumb
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T05:11:02Z

[Term]
id: HP:0009640
name: Synostosis of the proximal phalanx of the thumb with the 1st metacarpal
def: "Fusion of the proximal phalanx of the thumb with the 1st metacarpal." [https://orcid.org/0000-0002-0736-9199, PMID:26571461]
synonym: "Ankylosis of the metacarpophalangeal joint of the thumb" EXACT []
synonym: "Fusion of the innermost bone of the thumb with the 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024262
is_a: HP:0005880 ! Metacarpophalangeal synostosis
is_a: HP:0006152 ! Proximal symphalangism of hands
is_a: HP:0009635 ! Synostosis of thumb phalanx
is_a: HP:0009703 ! Synostosis involving the 1st metacarpal
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T05:17:08Z

[Term]
id: HP:0009641
name: Aplasia/Hypoplasia of the distal phalanx of the thumb
synonym: "Absent/small outermost thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped outermost thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024261
is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T05:19:33Z

[Term]
id: HP:0009642
name: Broad distal phalanx of the thumb
alt_id: HP:0004088
alt_id: HP:0006198
def: "Increased width of the distal phalanx of thumb." [https://orcid.org/0009-0006-4530-3154]
synonym: "Broad outermost bone of the thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Broad terminal thumb phalanx" EXACT []
synonym: "Wide distal phalanx of thumb" EXACT []
synonym: "Wide outermost bone of thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1863402
is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb
is_a: HP:0009836 ! Broad distal phalanx of finger
is_a: HP:0011304 ! Broad thumb
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T05:19:33Z

[Term]
id: HP:0009643
name: Bullet-shaped distal phalanx of the thumb
def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the thumb is affected." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped outermost bone of the thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024260
is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb
is_a: HP:0009652 ! Bullet-shaped thumb phalanx
is_a: HP:0009837 ! Bullet-shaped distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T05:19:33Z

[Term]
id: HP:0009644
name: Curved distal phalanx of the thumb
def: "A deviation from the normal straight shape of the distal phalanx of the thumb." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curved outermost bone of the thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024259
is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb
is_a: HP:0009653 ! Curved thumb phalanx
is_a: HP:0009838 ! Curved distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T05:19:33Z

[Term]
id: HP:0009645
name: Osteolytic defect of the distal phalanx of the thumb
def: "Dissolution or degeneration of bone tissue of the distal phalanx of the thumb." [https://orcid.org/0000-0002-0736-9199]
synonym: "Osteolytic defects of the distal phalanx of the thumb" EXACT []
synonym: "Osteolytic defects of the outermost bone of the thumb" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021417
is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb
is_a: HP:0009654 ! Osteolytic defect of thumb phalanx
is_a: HP:0009839 ! Osteolytic defects of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T05:19:33Z

[Term]
id: HP:0009646
name: Patchy sclerosis of the distal phalanx of the thumb
def: "An uneven increase in bone density of the distal phalanx of the thumb." [https://orcid.org/0000-0002-0736-9199]
synonym: "Uneven increase in bone density in the outermost bone of the thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024258
is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb
is_a: HP:0009655 ! Patchy sclerosis of thumb phalanx
is_a: HP:0009840 ! Patchy sclerosis of distal phalanx of finger
is_a: HP:0100912 ! Sclerosis of the distal phalanx of the thumb
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T05:19:33Z

[Term]
id: HP:0009648
name: Triangular shaped distal phalanx of the thumb
def: "Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Triangular shaped outermost bone of the thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024257
is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb
is_a: HP:0009657 ! Triangular shaped thumb phalanx
is_a: HP:0009875 ! Triangular shaped distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T05:19:33Z

[Term]
id: HP:0009649
name: Aplasia of the distal phalanx of the thumb
alt_id: HP:0004082
def: "Absence of the distal/terminal phalanx of the thumb." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absence of the outermost bone of the thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent ossification/absent terminal thumb phalanx" EXACT []
synonym: "Aplasia of the outermost bone of the thumb" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021416
is_a: HP:0009641 ! Aplasia/Hypoplasia of the distal phalanx of the thumb
is_a: HP:0009659 ! Partial absence of thumb
is_a: HP:0009881 ! Aplasia of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T05:22:06Z

[Term]
id: HP:0009650
name: Short distal phalanx of the thumb
alt_id: HP:0004085
alt_id: HP:0004087
def: "Hypoplastic (short) distal phalanx of the thumb." [https://orcid.org/0009-0006-4530-3154]
synonym: "Hypoplastic terminal thumb phalanx" EXACT []
synonym: "Hypoplastic/small distal phalanx of the thumb" EXACT []
synonym: "Short outermost bone of the thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Short terminal thumb phalanx" EXACT []
synonym: "Short thumb terminal phalanx" EXACT []
synonym: "Small terminal thumb phalanx" EXACT []
xref: UMLS:C1862313
is_a: HP:0009641 ! Aplasia/Hypoplasia of the distal phalanx of the thumb
is_a: HP:0009660 ! Short phalanx of the thumb
is_a: HP:0009882 ! Short distal phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T05:22:06Z

[Term]
id: HP:0009652
name: Bullet-shaped thumb phalanx
def: "An abnormal morphology of one or more phalanges of the thumb, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped phalanges of the thumb" EXACT []
synonym: "Bullet-shaped thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021415
is_a: HP:0009602 ! Abnormality of thumb phalanx
is_a: HP:0009769 ! Bullet-shaped phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T05:29:26Z

[Term]
id: HP:0009653
name: Curved thumb phalanx
def: "A deviation from the normal straight shape of a thumb phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curved phalanges of the thumb" EXACT []
synonym: "Curved thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021414
is_a: HP:0004095 ! Curved fingers
is_a: HP:0009602 ! Abnormality of thumb phalanx
is_a: HP:0009770 ! Curved phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T05:29:26Z

[Term]
id: HP:0009654
name: Osteolytic defect of thumb phalanx
def: "Dissolution or degeneration of bone tissue of one or more phalanges of the thumb." [https://orcid.org/0000-0002-0736-9199]
comment: Osteolytic lesions are visible on radiography as demarcated areas of radiolucency ('darkness').
synonym: "Osteolytic defects of the phalanges of the thumb" EXACT []
xref: UMLS:C4020905
is_a: HP:0009602 ! Abnormality of thumb phalanx
is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T05:29:26Z

[Term]
id: HP:0009655
name: Patchy sclerosis of thumb phalanx
def: "An uneven increase in bone density of one or more of the phalanges of the thumb." [https://orcid.org/0000-0002-0736-9199]
synonym: "Patchy sclerosis of the phalanges of the thumb" EXACT []
synonym: "Uneven increase in bone density in thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021413
is_a: HP:0009772 ! Patchy sclerosis of finger phalanx
is_a: HP:0100922 ! Sclerosis of thumb phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T05:29:26Z

[Term]
id: HP:0009656
name: Symphalangism of the thumb
alt_id: HP:0004068
alt_id: HP:0009639
alt_id: HP:0009647
def: "Congenital fusion (ankylosis) of the interphalangeal joint of the thumb." [https://orcid.org/0000-0002-0736-9199, PMID:22379556]
comment: Symphalangism is caused by a failure of segmentation that occurs during early fetal development.
synonym: "Fused thumb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Fused thumb phalanges" EXACT []
synonym: "Symphalangism of the distal and proximal phalanges of the thumb" EXACT []
xref: UMLS:C1834032
is_a: HP:0001204 ! Distal symphalangism of hands
is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb
is_a: HP:0009635 ! Synostosis of thumb phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T05:29:26Z

[Term]
id: HP:0009657
name: Triangular shaped thumb phalanx
alt_id: HP:0004072
def: "Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle." [https://orcid.org/0000-0002-0736-9199]
comment: A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx (in this case metacarpal, see explanation above).
synonym: "Triangular shaped phalanges of the thumb" EXACT []
synonym: "Triangular shaped thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Triangular thumb phalanges" EXACT []
xref: UMLS:C4021412
is_a: HP:0009602 ! Abnormality of thumb phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T05:29:26Z

[Term]
id: HP:0009658
name: Aplasia/Hypoplasia of the phalanges of the thumb
alt_id: HP:0005834
synonym: "Absent/small thumb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped thumb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024256
is_a: HP:0009602 ! Abnormality of thumb phalanx
is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T05:29:26Z

[Term]
id: HP:0009659
name: Partial absence of thumb
alt_id: HP:0004065
def: "The absence of a phalangeal segment of a thumb." [PMID:probinson]
synonym: "Aplasia of the phalanges of the thumb" RELATED []
synonym: "Partial absence of thumb" EXACT layperson []
xref: UMLS:C4020780
xref: UMLS:C4024255
is_a: HP:0009601 ! Aplasia/Hypoplasia of the thumb
is_a: HP:0009658 ! Aplasia/Hypoplasia of the phalanges of the thumb
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T05:35:50Z

[Term]
id: HP:0009660
name: Short phalanx of the thumb
alt_id: HP:0004069
alt_id: HP:0004071
def: "Hypoplastic (short) thumb phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic thumb phalanges" EXACT []
synonym: "Hypoplastic/small phalanges of the thumb" EXACT []
synonym: "Short thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Short thumb phalanges" EXACT []
xref: UMLS:C4021411
is_a: HP:0009658 ! Aplasia/Hypoplasia of the phalanges of the thumb
is_a: HP:0009778 ! Short thumb
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T05:35:50Z

[Term]
id: HP:0009662
name: Abnormality of the epiphysis of the distal phalanx of the thumb
alt_id: HP:0004089
def: "Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of terminal thumb epiphysis" EXACT []
synonym: "Abnormality of the end part of the outermost bone of the thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021410
is_a: HP:0009599 ! Abnormality of thumb epiphysis
is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb
is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T05:49:31Z

[Term]
id: HP:0009663
name: Abnormality of the epiphysis of the proximal phalanx of the thumb
def: "This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of end part of thumb innermost long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024254
is_a: HP:0009599 ! Abnormality of thumb epiphysis
is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb
is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-29T05:49:31Z

[Term]
id: HP:0009664
name: Absent epiphysis of the proximal phalanx of the thumb
def: "Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent end part of thumb innermost long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024253
is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb
is_a: HP:0009686 ! Absent epiphyses of the thumb
is_a: HP:0010257 ! Absent epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:17:13Z

[Term]
id: HP:0009665
name: Bracket epiphysis of the proximal phalanx of the thumb
def: "An abnormality of the proximal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bracket shaped end part of thumb innermost long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024252
is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb
is_a: HP:0009687 ! Bracket epiphyses of the thumb
is_a: HP:0010258 ! Bracket epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:17:13Z

[Term]
id: HP:0009666
name: Cone-shaped epiphysis of the proximal phalanx of the thumb
def: "A cone-shaped appearance of the epiphysis of the proximal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cone-shaped end part of thumb innermost long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024251
is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb
is_a: HP:0009688 ! Cone-shaped epiphysis of the thumb
is_a: HP:0010259 ! Cone-shaped epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:17:13Z

[Term]
id: HP:0009667
name: Enlarged epiphysis of the proximal phalanx of the thumb
def: "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlarged end part of thumb innermost long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024250
is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb
is_a: HP:0009689 ! Enlarged thumb epiphysis
is_a: HP:0010260 ! Enlarged epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:17:13Z

[Term]
id: HP:0009668
name: Fragmentation of the epiphysis of the proximal phalanx of the thumb
def: "Epiphysis of the proximal phalanx of the thumb having multiple bony fragments." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fragmentation of end part of thumb innermost long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024249
is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb
is_a: HP:0009690 ! Fragmentation of thumb epiphysis
is_a: HP:0010261 ! Fragmentation of the epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:17:13Z

[Term]
id: HP:0009669
name: Irregular epiphysis of the proximal phalanx of the thumb
def: "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular end part of thumb innermost long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024248
is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb
is_a: HP:0009691 ! Irregular thumb epiphysis
is_a: HP:0010262 ! Irregular epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:17:13Z

[Term]
id: HP:0009670
name: Ivory epiphysis of the proximal phalanx of the thumb
def: "Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased bone density of end part of the innermost bone of the thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024247
is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb
is_a: HP:0009692 ! Ivory epiphysis of the thumb
is_a: HP:0010263 ! Ivory epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:17:13Z

[Term]
id: HP:0009671
name: Pseudoepiphysis of the proximal phalanx of the thumb
def: "A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024246
is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb
is_a: HP:0009693 ! Pseudoepiphysis of the thumb
is_a: HP:0010264 ! Pseudoepiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:17:13Z

[Term]
id: HP:0009672
name: Small epiphysis of the proximal phalanx of the thumb
def: "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small end part of thumb innermost long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024245
is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb
is_a: HP:0009694 ! Small thumb epiphysis
is_a: HP:0010265 ! Small epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:17:13Z

[Term]
id: HP:0009673
name: Stippling of the epiphysis of the proximal phalanx of the thumb
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0000-0002-0736-9199]
synonym: "Speckled calcifications in end part of thumb innermost long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024244
is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb
is_a: HP:0009695 ! Stippling of thumb epiphysis
is_a: HP:0010266 ! Stippling of the epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:17:13Z

[Term]
id: HP:0009674
name: Triangular epiphysis of the proximal phalanx of the thumb
def: "A triangular appearance of the epiphysis of the proximal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0000-0002-0736-9199]
synonym: "Triangular end part of thumb innermost long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024243
is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb
is_a: HP:0009696 ! Triangular epiphyses of the thumb
is_a: HP:0010267 ! Triangular epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:17:13Z

[Term]
id: HP:0009675
name: Absent epiphysis of the distal phalanx of the thumb
def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent end part of thumb outermost long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024242
is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb
is_a: HP:0009686 ! Absent epiphyses of the thumb
is_a: HP:0010246 ! Absent epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:18:09Z

[Term]
id: HP:0009676
name: Bracket epiphysis of the distal phalanx of the thumb
def: "An abnormality of the distal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bracket shaped end part of thumb outermost long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024241
is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb
is_a: HP:0009687 ! Bracket epiphyses of the thumb
is_a: HP:0010247 ! Bracket epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:18:09Z

[Term]
id: HP:0009677
name: Cone-shaped epiphysis of the distal phalanx of the thumb
alt_id: HP:0004091
def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cone-shaped end part of thumb outermost long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Cone-shaped terminal thumb phalanx epiphysis" EXACT []
xref: UMLS:C4021409
is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb
is_a: HP:0009688 ! Cone-shaped epiphysis of the thumb
is_a: HP:0010248 ! Cone-shaped epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:18:09Z

[Term]
id: HP:0009678
name: Enlarged epiphysis of the distal phalanx of the thumb
alt_id: HP:0004092
def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlarged end part of thumb outermost long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Large terminal thumb phalanx epiphysis" EXACT []
xref: UMLS:C4021408
is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb
is_a: HP:0009689 ! Enlarged thumb epiphysis
is_a: HP:0010249 ! Enlarged epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:18:09Z

[Term]
id: HP:0009679
name: Fragmentation of the epiphysis of the distal phalanx of the thumb
def: "Epiphysis of the distal phalanx of the thumb having multiple bony fragments." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fragmentation of end part thumb outermost long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024240
is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb
is_a: HP:0009690 ! Fragmentation of thumb epiphysis
is_a: HP:0010250 ! Fragmentation of the epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:18:09Z

[Term]
id: HP:0009680
name: Irregular epiphysis of the distal phalanx of the thumb
def: "Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular end part of thumb outermost bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024239
is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb
is_a: HP:0009691 ! Irregular thumb epiphysis
is_a: HP:0010251 ! Irregular epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:18:09Z

[Term]
id: HP:0009681
name: Ivory epiphysis of the distal phalanx of the thumb
def: "Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased bone density of end part of the outermost bone of the thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024238
is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb
is_a: HP:0009692 ! Ivory epiphysis of the thumb
is_a: HP:0010252 ! Ivory epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:18:09Z

[Term]
id: HP:0009682
name: Pseudoepiphysis of the distal phalanx of the thumb
def: "A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb." [https://orcid.org/0000-0002-0736-9199]
synonym: "Pseudoepiphysis of the outermost bone of the thumb" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024237
is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb
is_a: HP:0009693 ! Pseudoepiphysis of the thumb
is_a: HP:0010253 ! Pseudoepiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:18:09Z

[Term]
id: HP:0009683
name: Small epiphysis of the distal phalanx of the thumb
def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small end part of thumb outermost bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024236
is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb
is_a: HP:0009694 ! Small thumb epiphysis
is_a: HP:0010254 ! Small epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:18:09Z

[Term]
id: HP:0009684
name: Stippling of the epiphysis of the distal phalanx of the thumb
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb." [https://orcid.org/0000-0002-0736-9199]
synonym: "Speckled calcifications in the end part of the outermost thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024235
is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb
is_a: HP:0009695 ! Stippling of thumb epiphysis
is_a: HP:0010255 ! Stippling of the epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:18:09Z

[Term]
id: HP:0009685
name: Triangular epiphysis of the distal phalanx of the thumb
def: "A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [https://orcid.org/0000-0002-0736-9199]
synonym: "Triangular end part of thumb outermost bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Triangular epiphysis of the outermost bone of the thumb" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024234
is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb
is_a: HP:0009696 ! Triangular epiphyses of the thumb
is_a: HP:0010256 ! Triangular epiphyses of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:18:09Z

[Term]
id: HP:0009686
name: Absent epiphyses of the thumb
def: "Absence of one or more epiphyses of the thumb." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024233
is_a: HP:0009599 ! Abnormality of thumb epiphysis
is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:20:16Z

[Term]
id: HP:0009687
name: Bracket epiphyses of the thumb
def: "An abnormality of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [PMID:24432108]
synonym: "Bracket shaped end part of the thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024232
is_a: HP:0009599 ! Abnormality of thumb epiphysis
is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:20:16Z

[Term]
id: HP:0009688
name: Cone-shaped epiphysis of the thumb
alt_id: HP:0004075
def: "A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cone-shaped end part of thumb long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Cone-shaped epiphyses of the thumb" EXACT []
synonym: "Cone-shaped thumb epiphyses" EXACT []
xref: UMLS:C4021407
is_a: HP:0009599 ! Abnormality of thumb epiphysis
is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:20:16Z

[Term]
id: HP:0009689
name: Enlarged thumb epiphysis
def: "Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlarged end part of thumb long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Enlarged epiphyses of the thumb" EXACT []
xref: UMLS:C4021406
is_a: HP:0009599 ! Abnormality of thumb epiphysis
is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:20:16Z

[Term]
id: HP:0009690
name: Fragmentation of thumb epiphysis
def: "Epiphysis of the thumb having multiple bony fragments." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fragmentation of end part of long bone of thumb" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Fragmentation of the epiphyses of the thumb" EXACT []
xref: UMLS:C4021405
is_a: HP:0009599 ! Abnormality of thumb epiphysis
is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:20:16Z

[Term]
id: HP:0009691
name: Irregular thumb epiphysis
def: "Uneven radiographic opacity of the one or more epiphyses of the thumb." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular end part of thumb long bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Irregular epiphyses of the thumb" EXACT []
xref: UMLS:C4021404
is_a: HP:0009599 ! Abnormality of thumb epiphysis
is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:20:16Z

[Term]
id: HP:0009692
name: Ivory epiphysis of the thumb
def: "Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased bone density of end part of the thumb" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Ivory epiphyses of the thumb" EXACT []
xref: UMLS:C4021403
is_a: HP:0009599 ! Abnormality of thumb epiphysis
is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand
is_a: HP:0100922 ! Sclerosis of thumb phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:20:16Z

[Term]
id: HP:0009693
name: Pseudoepiphysis of the thumb
def: "A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb." [https://orcid.org/0000-0002-0736-9199]
synonym: "Pseudoepiphyses of the thumb" EXACT []
xref: UMLS:C3552484
is_a: HP:0009599 ! Abnormality of thumb epiphysis
is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:20:16Z

[Term]
id: HP:0009694
name: Small thumb epiphysis
def: "Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small end part of thumb long bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Small epiphyses of the thumb" EXACT []
xref: UMLS:C4021402
is_a: HP:0009599 ! Abnormality of thumb epiphysis
is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:20:16Z

[Term]
id: HP:0009695
name: Stippling of thumb epiphysis
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb." [https://orcid.org/0000-0002-0736-9199]
synonym: "Speckled calcifications in end part of thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Stippling of the epiphyses of the thumb" EXACT []
xref: UMLS:C4021401
is_a: HP:0009599 ! Abnormality of thumb epiphysis
is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:20:16Z

[Term]
id: HP:0009696
name: Triangular epiphyses of the thumb
synonym: "Triangular end part of the thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024231
is_a: HP:0009599 ! Abnormality of thumb epiphysis
is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T09:20:16Z

[Term]
id: HP:0009697
name: Contracture of the distal interphalangeal joint of the fingers
def: "Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024230
is_a: HP:0001220 ! Interphalangeal joint contracture of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T04:01:28Z

[Term]
id: HP:0009699
name: Osteolytic defects of the hand bones
alt_id: HP:0004282
alt_id: HP:0006082
synonym: "Lytic defects of hand bones" EXACT []
xref: UMLS:C4021400
is_a: HP:0005922 ! Abnormal hand morphology
is_a: HP:0045039 ! Osteolysis involving bones of the upper limbs
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T04:08:52Z

[Term]
id: HP:0009700
name: Finger symphalangism
def: "An abnormal union between bones or parts of bones of the fingers. The synonymous term \"symphalangism of the hand\" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as \"Symphalangism\" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as \"bony\" Syndactyly." [https://orcid.org/0009-0006-4530-3154]
synonym: "Fused finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Symphalangism of the hand" EXACT [https://orcid.org/0000-0002-0736-9199]
synonym: "Synostosis involving bones of the fingers" EXACT []
xref: UMLS:C4021399
is_a: HP:0004278 ! Synostosis involving bones of the hand
is_a: HP:0100262 ! Synostosis involving digits
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T04:12:24Z

[Term]
id: HP:0009701
name: Metacarpal synostosis
alt_id: HP:0005915
alt_id: HP:0006041
def: "Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx)." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Fused long bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Synostosis involving metacarpal bones" EXACT []
synonym: "Synostosis involving the metacarpal bones" EXACT []
xref: UMLS:C4021398
is_a: HP:0004278 ! Synostosis involving bones of the hand
is_a: HP:0005916 ! Abnormal metacarpal morphology
is_a: HP:0100265 ! Synostosis of metacarpals/metatarsals
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T04:13:07Z

[Term]
id: HP:0009702
name: Carpal synostosis
alt_id: HP:0001192
alt_id: HP:0005799
def: "Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform)." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Carpal bone fusion" EXACT []
synonym: "Carpal fusion" EXACT []
synonym: "Fused carpal bones" EXACT []
synonym: "Fused wrist bones" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Fusion of carpal bones" EXACT []
synonym: "Synostosis involving the carpal bones" EXACT []
xref: SNOMEDCT_US:253930002
xref: UMLS:C0431863
is_a: HP:0001191 ! Abnormal carpal morphology
is_a: HP:0004278 ! Synostosis involving bones of the hand
is_a: HP:0100266 ! Synostosis of carpals/tarsals
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T04:25:10Z

[Term]
id: HP:0009703
name: Synostosis involving the 1st metacarpal
alt_id: HP:0005614
alt_id: HP:0010032
def: "Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0000-0002-0736-9199]
synonym: "First metacarpophalangeal joint synostosis" EXACT []
synonym: "Fusion involving 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Symphalangism affecting the 1st metacarpal" EXACT []
xref: UMLS:C4021397
is_a: HP:0009701 ! Metacarpal synostosis
is_a: HP:0010009 ! Abnormal 1st metacarpal morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T04:26:41Z

[Term]
id: HP:0009704
name: Chronic CSF lymphocytosis
def: "Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter." [https://orcid.org/0000-0002-0736-9199]
synonym: "Chronic cerebrospinal fluid lymphocytosis" EXACT []
xref: UMLS:C4024229
is_a: HP:0200149 ! CSF lymphocytic pleiocytosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-30T06:24:59Z

[Term]
id: HP:0009705
name: Synostosis involving the 2nd metacarpal
synonym: "Fusion involving the 2nd long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024228
is_a: HP:0009701 ! Metacarpal synostosis
is_a: HP:0010010 ! Abnormal 2nd metacarpal morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T04:32:03Z

[Term]
id: HP:0009706
name: Synostosis involving the 3rd metacarpal
synonym: "Fusion involving the 3rd long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024227
is_a: HP:0009701 ! Metacarpal synostosis
is_a: HP:0010011 ! Abnormal 3rd metacarpal morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T04:32:03Z

[Term]
id: HP:0009707
name: Synostosis involving the 4th metacarpal
synonym: "Fusion involving the 4th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024226
is_a: HP:0009701 ! Metacarpal synostosis
is_a: HP:0010012 ! Abnormal 4th metacarpal morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T04:32:03Z

[Term]
id: HP:0009708
name: Synostosis involving the 5th metacarpal
synonym: "Fusion involving the 5th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024225
is_a: HP:0009701 ! Metacarpal synostosis
is_a: HP:0010013 ! Abnormal 5th metacarpal morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-01-30T04:32:03Z

[Term]
id: HP:0009709
name: Increased CSF interferon alpha
def: "Increased concentration of interferon alpha in the cerebrospinal fluid (CSF)." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1856983
is_a: HP:0025454 ! Abnormal CSF metabolite concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-30T06:27:06Z

[Term]
id: HP:0009710
name: Chilblains
def: "Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks." [https://orcid.org/0000-0002-0736-9199, PMID:1832531, PMID:22025653]
synonym: "Chilblain lesions" EXACT []
xref: UMLS:C4024224
is_a: HP:0011123 ! Inflammatory abnormality of the skin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-30T07:26:24Z

[Term]
id: HP:0009711
name: Retinal capillary hemangioma
def: "A benign vascular tumor of the retina without any neoplastic characteristics." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Retinal hemangioblastoma" EXACT []
xref: NCIT:C3801
xref: SNOMEDCT_US:312935003
xref: UMLS:C0730303
xref: UMLS:C1514915
is_a: HP:0001028 ! Hemangioma
is_a: HP:0009594 ! Retinal hamartoma
is_a: HP:0010797 ! Hemangioblastoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-30T11:08:05Z

[Term]
id: HP:0009713
name: Spinal hemangioblastoma
def: "A hemangioblastoma of the spinal cord." [https://orcid.org/0000-0002-0736-9199]
xref: NCIT:C3801
xref: UMLS:C4024223
is_a: HP:0010302 ! Spinal cord tumor
is_a: HP:0010797 ! Hemangioblastoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-30T11:24:31Z

[Term]
id: HP:0009714
name: Abnormal epididymis morphology
def: "An abnormality of the epididymis." [https://orcid.org/0000-0002-0736-9199]
comment: The epididymis is the structure that connects efferent ductules to vas deferens.
synonym: "Abnormality of the epididymis" EXACT []
xref: UMLS:C4024222
is_a: HP:0000022 ! Abnormal male internal genitalia morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-30T11:44:43Z

[Term]
id: HP:0009715
name: Papillary cystadenoma of the epididymis
alt_id: HP:0030422
def: "A cystadenoma, an epithelial tumor, that originates within the head of the epididymis." [https://orcid.org/0000-0002-0736-9199, PMID:24441657]
comment: Papillary cystadenomas of the epididymis are partially or completely cystic or solid lesions, between 1-3 cm in diameter and arise from the efferent duct epithelium of the head of epididymis.
xref: NCIT:C2974
xref: UMLS:C4024221
is_a: HP:0009714 ! Abnormal epididymis morphology
is_a: HP:0030421 ! Epididymal neoplasm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-30T11:46:33Z

[Term]
id: HP:0009716
name: Subependymal nodules
def: "Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-1735-8178]
xref: UMLS:C1968958
is_a: HP:0002118 ! Abnormal cerebral ventricle morphology
is_a: HP:0009731 ! Cerebral hamartoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-30T11:57:28Z

[Term]
id: HP:0009717
name: Cortical tubers
def: "Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1968959
is_a: HP:0002538 ! Abnormal cerebral cortex morphology
is_a: HP:0009731 ! Cerebral hamartoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T12:03:16Z

[Term]
id: HP:0009718
name: Subependymal giant-cell astrocytoma
def: "A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:1586004
xref: SNOMEDCT_US:449799008
xref: UMLS:C0205768
is_a: HP:0009592 ! Astrocytoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T12:07:02Z

[Term]
id: HP:0009719
name: Hypomelanotic macule
def: "Hypomelanotic macules (\"ash leaf spots\") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis." [https://orcid.org/0000-0002-0736-9199, PMID:10695583]
comment: While hypopigmentation is a general term that refers to any form of decreased or absent skin pigmentation, hypomelanosis more specifically refers to a reduction of epidermal melanin.
synonym: "Hypomelanotic macules" EXACT plural_form []
xref: UMLS:C4024220
is_a: HP:0001010 ! Hypopigmentation of the skin
is_a: HP:0020073 ! Hypopigmented macule
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T12:16:52Z

[Term]
id: HP:0009720
name: Adenoma sebaceum
def: "The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin." [https://orcid.org/0000-0002-0736-9199]
comment: Facial angiofibromas, also known as adenoma sebaceum, are reddish papillary lesions (fibrous skin tumors) that are found around the nose, cheeks, and chin and considered to be characteristic of tuberous sclerosis.
synonym: "Facial angiofibromas" EXACT []
synonym: "Sebaceous adenoma" EXACT []
synonym: "Sebaceous adenomas" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:36025004
xref: SNOMEDCT_US:78424008
xref: UMLS:C0265319
xref: UMLS:C1368816
is_a: HP:0008069 ! Neoplasm of the skin
is_a: HP:0010615 ! Angiofibromas
is_a: HP:0011799 ! Abnormality of facial soft tissue
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T12:19:37Z

[Term]
id: HP:0009721
name: Shagreen patch
def: "A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled. The word shagreen refers to a type of roughened untanned leather." [https://orcid.org/0000-0002-0736-9199, PMID:10695583]
subset: hposlim_core
xref: SNOMEDCT_US:254244007
xref: UMLS:C0432363
is_a: HP:0100898 ! Connective tissue nevi
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T09:36:32Z

[Term]
id: HP:0009722
name: Dental enamel pits
def: "The presence of small depressions in the dental enamel." [https://orcid.org/0000-0002-0736-9199]
synonym: "Dental enamel pits" EXACT layperson []
synonym: "Dental enamel pitting" EXACT []
synonym: "Pitting of tooth enamel" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Tooth enamel pits" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1860711
is_a: HP:0000682 ! Abnormal dental enamel morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T09:44:34Z

[Term]
id: HP:0009723
name: Abnormal subungual morphology
def: "A lesion located beneath a fingernail or toenail." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the subungual region" EXACT []
xref: UMLS:C4024219
is_a: HP:0001597 ! Abnormal nail morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T09:49:06Z

[Term]
id: HP:0009724
name: Subungual fibromas
def: "The presence of fibromata beneath finger or toenails." [https://orcid.org/0000-0002-0736-9199]
synonym: "Subungual fibroma" RELATED []
xref: SNOMEDCT_US:39295002
xref: UMLS:C0266003
is_a: HP:0009723 ! Abnormal subungual morphology
is_a: HP:0010614 ! Fibroma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T09:49:51Z

[Term]
id: HP:0009725
name: Bladder neoplasm
def: "The presence of a neoplasm of the urinary bladder." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bladder cancer" EXACT []
synonym: "Bladder tumor" RELATED []
synonym: "Bladder tumour" RELATED uk_spelling []
xref: NCIT:C3262
xref: SNOMEDCT_US:126885006
xref: UMLS:C0005695
is_a: HP:0010786 ! Urinary tract neoplasm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T10:43:55Z

[Term]
id: HP:0009726
name: Renal neoplasm
alt_id: HP:0005933
def: "The presence of a neoplasm of the kidney." [https://orcid.org/0000-0002-0736-9199]
synonym: "Kidney cancer" BROAD layperson []
synonym: "Neoplasia of the kidneys" EXACT []
synonym: "Renal neoplasia" RELATED []
synonym: "Renal tumors" EXACT layperson []
synonym: "Renal tumours" EXACT uk_spelling []
xref: NCIT:C3262
xref: SNOMEDCT_US:126880001
xref: UMLS:C0022665
xref: UMLS:C1378703
is_a: HP:0000077 ! Abnormality of the kidney
is_a: HP:0010786 ! Urinary tract neoplasm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T10:41:48Z

[Term]
id: HP:0009727
name: Achromatic retinal patches
def: "Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disk diameter in size and tending to be located in the midperiphery of the retina." [https://orcid.org/0000-0002-0736-9199, PMID:11264130]
synonym: "Punched out areas of chorioretinal hypopigmentation" EXACT []
xref: UMLS:C1860710
is_a: HP:0007894 ! Hypopigmentation of the fundus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T10:49:15Z

[Term]
id: HP:0009728
name: Neoplasm of striated muscle
def: "A benign or malignant neoplasm (tumor) originating in striated muscle, either skeletal muscle or cardiac muscle." [https://orcid.org/0009-0006-4530-3154]
synonym: "Tumors of striated muscle" EXACT []
synonym: "Tumours of striated muscle" EXACT uk_spelling []
xref: NCIT:C3262
xref: UMLS:C4021396
is_a: HP:0003011 ! Abnormality of the musculature
is_a: HP:0011793 ! Neoplasm by anatomical site
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T10:52:25Z

[Term]
id: HP:0009729
name: Cardiac rhabdomyoma
def: "A benign tumor of cardiac striated muscle." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1332852
is_a: HP:0009730 ! Rhabdomyoma
is_a: HP:0100544 ! Neoplasm of the heart
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T10:53:11Z

[Term]
id: HP:0009730
name: Rhabdomyoma
def: "A benign tumor of striated muscle." [https://orcid.org/0000-0002-0736-9199]
xref: NCIT:C3358
xref: SNOMEDCT_US:302846007
xref: SNOMEDCT_US:402877008
xref: SNOMEDCT_US:43375002
xref: UMLS:C0035411
is_a: HP:0009728 ! Neoplasm of striated muscle
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T10:54:01Z

[Term]
id: HP:0009731
name: Cerebral hamartoma
def: "The presence of a hamartoma of the cerebrum." [https://orcid.org/0000-0002-0736-9199]
comment: Hamartomatous lesions (benign focal lesions composed of disorganized tissue elements) affecting and sometimes originating from the cerebrum.
synonym: "Cerebral hamartomata" EXACT []
xref: UMLS:C4024218
is_a: HP:0010566 ! Hamartoma
is_a: HP:0100835 ! Benign neoplasm of the central nervous system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T11:02:09Z

[Term]
id: HP:0009732
name: Plexiform neurofibroma
def: "A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:403818001
xref: SNOMEDCT_US:41252002
xref: UMLS:C0206728
is_a: HP:0001067 ! Neurofibroma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T11:12:32Z

[Term]
id: HP:0009733
name: Glioma
def: "The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes)." [https://orcid.org/0000-0002-0736-9199]
comment: Gliomas can be classified as 1) ependymomas, 2) astrocytomas (including glioblastoma multiforme), 3 oligodendrogliomas, and 4) mixed gliomas, such as oligoastrocytomas.
xref: NCIT:C3059
xref: SNOMEDCT_US:115240006
xref: SNOMEDCT_US:393564001
xref: SNOMEDCT_US:74532006
xref: UMLS:C0017638
is_a: HP:0030063 ! Neuroepithelial neoplasm
is_a: HP:0100705 ! Abnormal glial cell morphology
is_a: HP:0100836 ! Malignant neoplasm of the central nervous system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T11:15:22Z

[Term]
id: HP:0009734
name: Optic nerve glioma
def: "A glioma originating in the optic nerve or optic chiasm." [https://orcid.org/0000-0002-0736-9199]
synonym: "Optic glioma" EXACT []
xref: SNOMEDCT_US:254976006
xref: SNOMEDCT_US:404662003
xref: UMLS:C0346326
is_a: HP:0009733 ! Glioma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T11:17:13Z

[Term]
id: HP:0009735
name: Spinal neurofibroma
alt_id: HP:0007077
def: "A neurofibroma (benign peripheral nerve sheath tumor) localized in the spine." [https://orcid.org/0000-0002-0736-9199]
comment: Spinal neurofibromas can affect the spinal cord or the spinal nerve roots. Spinal neurofibromas can occur at cervical, thoracic, lumbar, and sacral levels.
synonym: "Spinal neurofibromas" EXACT plural_form []
xref: UMLS:C4024217
is_a: HP:0034761 ! Neurofibroma by anatomical location
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T11:19:24Z

[Term]
id: HP:0009736
name: Tibial pseudarthrosis
def: "Pseudarthrosis, or \"false joint\" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life." [https://orcid.org/0000-0002-0736-9199, PMID:30996736]
synonym: "Tibial pseudoarthrosis" EXACT []
xref: UMLS:C4024216
is_a: HP:0002992 ! Abnormal tibia morphology
is_a: HP:0005864 ! Pseudoarthrosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T11:22:24Z

[Term]
id: HP:0009737
name: Lisch nodules
def: "The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris.." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Iris hamartomas" EXACT []
xref: UMLS:C1860334
is_a: HP:0010568 ! Hamartoma of the eye
is_a: HP:0034819 ! Iris nodule
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T11:45:04Z

[Term]
id: HP:0009738
name: Abnormal antihelix morphology
def: "An abnormality of the antihelix." [https://orcid.org/0000-0002-0736-9199]
comment: An abnormal form of the antihelix, which is the curved prominence of cartilage, parallel with and in front of the helix, and which divides into the crura antihelicis, between which is a triangular depression, the fossa triangularis.
subset: hposlim_core
synonym: "Abnormal antehelix" EXACT []
synonym: "Abnormal anthelix" EXACT []
synonym: "Abnormal antihelix" EXACT []
xref: UMLS:C4021395
is_a: HP:0000377 ! Abnormal pinna morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T12:39:37Z

[Term]
id: HP:0009739
name: Hypoplasia of the antihelix
def: "Developmental hypoplasia of the antihelix." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic antihelix" EXACT []
xref: UMLS:C4021394
is_a: HP:0009738 ! Abnormal antihelix morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T12:41:43Z

[Term]
id: HP:0009740
name: Aplasia of the parotid gland
def: "Absence of the parotid gland." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormally small parotid gland" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Absence of the parotid gland" RELATED []
synonym: "Hypoplasia of parotid gland" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of parotid gland" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1400252
xref: UMLS:C4020779
xref: UMLS:C4024215
is_a: HP:0000197 ! Abnormal parotid gland morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T12:51:47Z

[Term]
id: HP:0009741
name: Nephrosclerosis
def: "Nephrosclerosis refers to thickening or scarring (\"sclerosis\") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries." [https://orcid.org/0000-0002-0736-9199]
synonym: "Scarring of kidney arteries" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Thickening of kidney artiries" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:32916005
xref: UMLS:C0027719
is_a: HP:0012210 ! Abnormal renal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T01:15:08Z

[Term]
id: HP:0009742
name: Stiff shoulders
def: "Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity." [https://orcid.org/0000-0002-0736-9199]
synonym: "Stiff shoulders" EXACT layperson []
xref: SNOMEDCT_US:249918006
xref: UMLS:C0241042
is_a: HP:0001387 ! Joint stiffness
is_a: HP:0033129 ! Abnormal shoulder physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T02:02:05Z

[Term]
id: HP:0009743
name: Distichiasis
def: "Double rows of eyelashes." [https://orcid.org/0000-0002-0736-9199]
comment: Distichiasis can be defined as the abnormal growth of lashes from the orifices of the Meibomian glands on the posterior lamella of the tarsal plate, resulting in a double row of eyelashes.
subset: hposlim_core
synonym: "Distichiasis of eyelid eyelashes" EXACT []
xref: SNOMEDCT_US:95339000
xref: UMLS:C0423848
is_a: HP:0008496 ! Multiple rows of eyelashes
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T02:07:50Z

[Term]
id: HP:0009744
name: Abnormal spinal dura mater morphology
def: "An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the spinal dura mater" EXACT []
xref: UMLS:C4024214
is_a: HP:0010303 ! Abnormal spinal meningeal morphology
is_a: HP:0010652 ! Abnormal dura mater morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T02:20:51Z

[Term]
id: HP:0009745
name: Spinal arachnoid cyst
def: "Presence of arachnoid cysts of the spinal canal extradurally in the epidural space." [https://orcid.org/0000-0002-0736-9199]
synonym: "Epidural arachnoid cysts of the spinal canal" EXACT []
xref: UMLS:C4021393
is_a: HP:0010303 ! Abnormal spinal meningeal morphology
is_a: HP:0100702 ! Arachnoid cyst
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T02:22:38Z

[Term]
id: HP:0009746
name: Thick nasal septum
def: "Abnormally increased thickness of the nasal septum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad nasal septum" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Broad septum of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thick nasal septum" EXACT layperson []
synonym: "Thick septum of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Wide nasal septum" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Wide septum of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1844810
is_a: HP:0000419 ! Abnormal nasal septum morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T02:44:09Z

[Term]
id: HP:0009747
name: Lumbosacral hirsutism
def: "Abnormally increased hair growth in the lumbosacral region." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1851095
is_a: HP:0009889 ! Localized hirsutism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T03:21:52Z

[Term]
id: HP:0009748
name: Large earlobe
alt_id: HP:0004449
alt_id: HP:0004456
def: "Increased volume of the earlobe, that is, abnormally prominent ear lobules." [https://orcid.org/0000-0002-0736-9199, PMID:19152421]
comment: All gradations in size of the earlobe may be seen from absent to clearly enlarged compared to average. This finding is highly variable. Lobe size increases throughout adulthood.
subset: hposlim_core
synonym: "Fleshy earlobe" EXACT layperson []
synonym: "Fleshy earlobes" EXACT layperson []
synonym: "Large earlobe" EXACT layperson []
synonym: "Prominent ear lobes" EXACT layperson []
synonym: "Prominent ear lobules" EXACT layperson []
xref: UMLS:C1844573
is_a: HP:0000363 ! Abnormal earlobe morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T04:02:42Z

[Term]
id: HP:0009751
name: Aplasia of the pectoralis major muscle
def: "Absence of the pectoralis major muscle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent pectoralis major muscle" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024213
is_a: HP:0005258 ! Pectoral muscle hypoplasia/aplasia
is_a: HP:0100854 ! Aplasia of the musculature
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T05:18:55Z

[Term]
id: HP:0009752
name: Cleft in skull base
def: "A bony defect in the skull base." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cleft in cranial base" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Cleft in skull base" EXACT layperson []
xref: UMLS:C1856027
is_a: HP:0002693 ! Abnormal skull base morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T05:45:00Z

[Term]
id: HP:0009754
name: Fibrous syngnathia
def: "Complete or nearly complete soft tissue fusion of the alveolar ridges." [PMID:19125428]
comment: This finding is associated with severely reduced mobility, or lack of mobility, between the upper and lower jaws. This finding is the severe end of a spectrum that includes oral synechiae.
subset: hposlim_core
synonym: "Alveolar synechiae" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Fusion of the alveolar ridges" EXACT []
xref: UMLS:C4021392
is_a: HP:0000277 ! Abnormal mandible morphology
is_a: HP:0006477 ! Abnormal alveolar ridge morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T08:50:29Z

[Term]
id: HP:0009755
name: Ankyloblepharon
def: "Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue." [PMID:18125427]
comment: A minimally expressed form, especially when located fully laterally, may be more difficult to ascertain and would be a subjective feature. A band may break and leave no evidence of its presence. Note that the term is distinct from cryptophthalmos.
subset: hposlim_core
synonym: "Adhesion of eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Ankyloblepharon filiforme adnatum" EXACT []
synonym: "Eyelid synechiae" EXACT []
synonym: "Eyelids stuck together" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Fused eyelid" EXACT []
xref: SNOMEDCT_US:193953008
xref: SNOMEDCT_US:400952003
xref: UMLS:C0339182
xref: UMLS:C1302999
is_a: HP:0000492 ! Abnormal eyelid morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T08:52:59Z

[Term]
id: HP:0009756
name: Popliteal pterygium
def: "A pterygium (or pterygia) occurring in the popliteal region (the back of the knee)." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
xref: UMLS:C3805420
is_a: HP:0001059 ! Pterygium
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T08:54:18Z

[Term]
id: HP:0009757
name: Intercrural pterygium
def: "A pterygium (or pterygia) in the intercrural (groin) region." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C3810471
is_a: HP:0001059 ! Pterygium
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T08:58:49Z

[Term]
id: HP:0009758
name: Pyramidal skinfold extending from the base to the top of the nails
def: "Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024212
is_a: HP:0001597 ! Abnormal nail morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T09:08:49Z

[Term]
id: HP:0009759
name: Neck pterygia
def: "Pterygia affecting the neck." [https://orcid.org/0000-0002-0736-9199]
synonym: "Neck pterygium" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1849577
is_a: HP:0001059 ! Pterygium
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T10:10:09Z

[Term]
id: HP:0009760
name: Antecubital pterygium
def: "Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Pterygium cubitale" EXACT []
synonym: "Webbed elbow" EXACT []
xref: UMLS:C1867439
is_a: HP:0001059 ! Pterygium
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T10:12:24Z

[Term]
id: HP:0009761
name: Anterior clefting of vertebral bodies
def: "Anterior schisis (cleft or cleavage) of vertebral bodies." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1849579
is_a: HP:0008428 ! Vertebral clefting
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-01-31T10:40:39Z

[Term]
id: HP:0009762
name: Facial wrinkling
def: "Excessive wrinkling of the skin of the face." [https://orcid.org/0000-0002-0736-9199]
synonym: "Facial wrinkling" EXACT layperson []
xref: SNOMEDCT_US:248194004
xref: UMLS:C0262478
is_a: HP:0100678 ! Premature skin wrinkling
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-02-01T03:12:09Z

[Term]
id: HP:0009763
name: Limb pain
def: "Chronic pain in the limbs with no clear focal etiology." [https://orcid.org/0000-0002-0736-9199]
synonym: "Limb pain" EXACT layperson []
synonym: "Pain in extremities" RELATED layperson []
xref: SNOMEDCT_US:90834002
xref: UMLS:C0030196
is_a: HP:0011843 ! Abnormal musculoskeletal physiology
is_a: HP:0012531 ! Pain
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-02-01T03:55:10Z

[Term]
id: HP:0009765
name: Low hanging columella
alt_id: HP:0009766
def: "Columella extending inferior to the level of the nasal base, when viewed from the side." [PMID:19152422]
synonym: "Columella extends below the ala nasi" RELATED []
synonym: "Columella, low" EXACT []
synonym: "Columella, low hanging" EXACT []
synonym: "Extension of the columella below the ala nasi" EXACT []
synonym: "Low-hanging columella" EXACT []
synonym: "Prominent columella" RELATED []
synonym: "Rounded columella" RELATED [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1856119
xref: UMLS:C4280395
is_a: HP:0009929 ! Abnormal columella morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-02-01T11:01:14Z

[Term]
id: HP:0009767
name: Aplasia/Hypoplasia of the phalanges of the hand
alt_id: HP:0006056
alt_id: HP:0006100
alt_id: HP:0009801
def: "Small or missing phalangeal bones of the fingers of the hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Aplastic/hypoplastic phalanges" EXACT []
synonym: "Aplastic/hypoplastic phalanges of the hand" EXACT []
synonym: "Hypoplastic/absent phalanges" EXACT []
xref: UMLS:C1848670
is_a: HP:0005918 ! Abnormal finger phalanx morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-02T11:38:04Z

[Term]
id: HP:0009768
name: Broad phalanges of the hand
alt_id: HP:0001246
alt_id: HP:0006260
def: "Increased width of the phalanges of the hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Wide hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Widening of phalanges of the hand" EXACT []
xref: UMLS:C4021391
is_a: HP:0001500 ! Broad finger
is_a: HP:0005918 ! Abnormal finger phalanx morphology
is_a: HP:0006009 ! Broad phalanx
is_a: HP:0040070 ! Abnormal upper limb bone morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-02T11:38:04Z

[Term]
id: HP:0009769
name: Bullet-shaped phalanges of the hand
alt_id: HP:0004270
alt_id: HP:0006139
def: "The presence of short and wide phalanges which taper distally (\"bullet shaped\")." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Bullet-shaped phalanges of the hands" EXACT []
synonym: "Conical bullet-shaped distal ends of phalanges" EXACT []
xref: UMLS:C1854952
is_a: HP:0005918 ! Abnormal finger phalanx morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-02T11:38:04Z

[Term]
id: HP:0009770
name: Curved phalanges of the hand
synonym: "Curved hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024211
is_a: HP:0005918 ! Abnormal finger phalanx morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-02T11:38:04Z

[Term]
id: HP:0009771
name: Osteolytic defects of the phalanges of the hand
alt_id: HP:0001179
def: "Dissolution or degeneration of bone tissue of the phalanges of the hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Acro-osteolysis" EXACT []
synonym: "Acroosteolysis" EXACT []
synonym: "Breakdown of small bones of fingers" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:27201004
xref: SNOMEDCT_US:63122002
xref: UMLS:C0917990
is_a: HP:0005918 ! Abnormal finger phalanx morphology
is_a: HP:0009699 ! Osteolytic defects of the hand bones
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-02T11:38:04Z

[Term]
id: HP:0009772
name: Patchy sclerosis of finger phalanx
alt_id: HP:0006071
def: "Uneven (irregular) increase in bone density of one or more of the phalanges of the hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Patchy sclerosis of the phalanges of the hand" EXACT []
synonym: "Phalangeal sclerosis" EXACT []
synonym: "Uneven increase in bone density in finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1857508
is_a: HP:0004286 ! Patchy sclerosis of hand bones
is_a: HP:0005686 ! Patchy osteosclerosis
is_a: HP:0100899 ! Sclerosis of finger phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-02T11:38:04Z

[Term]
id: HP:0009773
name: Symphalangism affecting the phalanges of the hand
alt_id: HP:0006187
alt_id: HP:0006258
def: "Fusion of two or more phalangeal bones of the hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fused finger bones of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Synostosis involving phalanges of the hand" EXACT []
xref: UMLS:C4021390
is_a: HP:0005918 ! Abnormal finger phalanx morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-02T11:38:04Z

[Term]
id: HP:0009774
name: Triangular shaped phalanges of the hand
alt_id: HP:0006085
alt_id: HP:0009874
synonym: "Delta phalanx/delta-like phalanx" EXACT []
synonym: "Triangular shaped hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C2673397
is_a: HP:0005918 ! Abnormal finger phalanx morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-02T11:38:04Z

[Term]
id: HP:0009775
name: Amniotic constriction ring
alt_id: HP:0001078
def: "Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands." [https://orcid.org/0000-0002-0736-9199]
comment: Pseudoainhum is a rare condition of unknown etiology that produces digital constricting rings, most commonly on the small fingers.
synonym: "Amniotic bands" EXACT []
synonym: "Amniotic constriction band" RELATED []
synonym: "Congenital constriction band sequence" EXACT []
synonym: "Pseudoainhum" EXACT []
xref: SNOMEDCT_US:19988008
xref: SNOMEDCT_US:238879003
xref: UMLS:C0334166
xref: UMLS:C1527388
is_a: HP:0011409 ! Abnormal placental membrane morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-02T05:36:41Z

[Term]
id: HP:0009776
name: Adactyly
def: "The absence of all phalanges of all the digits of a limb and the associated soft tissues." [PMID:19125433]
comment: This descriptor does not require absence of the metacarpal or metatarsal bones. A qualifying phrase is added to specify which limb has the attribute of adactyly.
subset: hposlim_core
synonym: "Absent fingers or toes" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Aphalangy" EXACT []
xref: Fyler:4173
xref: SNOMEDCT_US:275348004
xref: UMLS:C0238591
xref: UMLS:C4280394
is_a: HP:0009380 ! Finger aplasia
is_a: HP:0010760 ! Absent toe
is_a: HP:6000818 ! Transverse terminal limb defect
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-02T05:44:39Z

[Term]
id: HP:0009777
name: Absent thumb
alt_id: HP:0001185
alt_id: HP:0002802
alt_id: HP:0009627
def: "Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
subset: hposlim_core
synonym: "Absent thumb" EXACT layperson []
synonym: "Absent thumbs" EXACT layperson []
synonym: "Aplasia of the thumb" EXACT []
synonym: "Thumb aplasia" EXACT []
xref: UMLS:C3278811
is_a: HP:0009380 ! Finger aplasia
is_a: HP:0009601 ! Aplasia/Hypoplasia of the thumb
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-02T05:46:42Z

[Term]
id: HP:0009778
name: Short thumb
alt_id: HP:0001183
alt_id: HP:0001186
alt_id: HP:0001589
alt_id: HP:0005699
alt_id: HP:0006151
alt_id: HP:0009628
def: "Hypoplasia (congenital reduction in size) of the thumb." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Hypoplastic thumb" EXACT []
synonym: "Hypoplastic thumbs" EXACT []
synonym: "Hypoplastic/small thumb" EXACT []
synonym: "Short thumb" EXACT layperson []
synonym: "Short thumbs" EXACT layperson []
synonym: "Small thumbs" EXACT layperson []
synonym: "Thumb brachydactyly" EXACT []
synonym: "Thumb hypoplasia" EXACT []
xref: SNOMEDCT_US:253936008
xref: UMLS:C0431890
is_a: HP:0009381 ! Short finger
is_a: HP:0009601 ! Aplasia/Hypoplasia of the thumb
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-02T05:46:42Z

[Term]
id: HP:0009779
name: 3-4 toe syndactyly
alt_id: HP:0004708
def: "Syndactyly with fusion of toes three and four." [https://orcid.org/0009-0006-4530-3154]
synonym: "syndactyly of 3rd - 4th toes" EXACT []
synonym: "Webbed 3rd-4th toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1834062
is_a: HP:0001770 ! Toe syndactyly
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-02-03T04:43:16Z

[Term]
id: HP:0009780
name: Iliac horns
def: "Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:84308008
xref: UMLS:C0263925
is_a: HP:0003796 ! Irregular iliac crest
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-02-03T04:48:00Z

[Term]
id: HP:0009781
name: Lester's sign
def: "A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024210
is_a: HP:0001100 ! Heterochromia iridis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-02-03T04:50:17Z

[Term]
id: HP:0009782
name: Aplasia/Hypoplasia of the biceps
def: "Absence or underdevelopment of the biceps muscle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small biceps" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped biceps" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024209
is_a: HP:0001468 ! Aplasia/Hypoplasia involving the musculature of the upper arm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-02-03T04:52:01Z

[Term]
id: HP:0009783
name: Biceps aplasia
def: "Absence of the biceps muscle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent biceps" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C3805764
is_a: HP:0009782 ! Aplasia/Hypoplasia of the biceps
is_a: HP:0100854 ! Aplasia of the musculature
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-02-03T04:57:47Z

[Term]
id: HP:0009784
name: Aplasia/Hypoplasia of the triceps
def: "Absence or underdevelopment of the triceps muscle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small triceps" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped triceps" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024208
is_a: HP:0001468 ! Aplasia/Hypoplasia involving the musculature of the upper arm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-02-03T04:58:31Z

[Term]
id: HP:0009785
name: Triceps aplasia
def: "Absence of the triceps muscle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent triceps" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C3810484
is_a: HP:0009784 ! Aplasia/Hypoplasia of the triceps
is_a: HP:0100854 ! Aplasia of the musculature
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-02-03T05:15:21Z

[Term]
id: HP:0009786
name: Aplasia/Hypoplasia of the musculature of the thigh
def: "Absence or underdevelopment involving the musculature of the thigh." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small thigh muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped thigh muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024207
is_a: HP:0001441 ! Abnormality thigh musculature morphology
is_a: HP:0009128 ! Aplasia/Hypoplasia involving the musculature of the extremities
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-02-03T05:16:42Z

[Term]
id: HP:0009787
name: Aplasia/Hypoplasia of the quadriceps
def: "Absence or underdevelopment of the quadriceps muscle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small quadriceps" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped quadriceps" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024206
is_a: HP:0009786 ! Aplasia/Hypoplasia of the musculature of the thigh
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-02-03T05:17:40Z

[Term]
id: HP:0009788
name: Quadriceps aplasia
def: "Absence of the quadriceps muscle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent quads" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C3805765
is_a: HP:0009787 ! Aplasia/Hypoplasia of the quadriceps
is_a: HP:0100854 ! Aplasia of the musculature
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-02-03T05:18:11Z

[Term]
id: HP:0009789
name: Perianal abscess
def: "The presence of an abscess located around the anus." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:82127005
xref: UMLS:C0031019
is_a: HP:0031292 ! Cutaneous abscess
is_a: HP:0034915 ! Abnormal anus morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-02-03T05:19:42Z

[Term]
id: HP:0009790
name: Hemisacrum
def: "A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C2677632
is_a: HP:0008490 ! Sacral segmentation defect
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-02-03T05:21:37Z

[Term]
id: HP:0009791
name: Bifid sacrum
def: "Presence of a bifid sacral bone." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024204
is_a: HP:0008490 ! Sacral segmentation defect
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-02-03T05:22:25Z

[Term]
id: HP:0009792
name: Teratoma
def: "The presence of a teratoma." [https://orcid.org/0000-0002-0736-9199]
comment: Teratomas are germ-cell tumors commonly composed of multiple cell types derived from one or more of the three germ layers. They derive from embryonic pluripotent cells and may have various degrees of maturation, according to which they are classified as mature, immature, and malignant. Teratomas are found with decreasing frequency in the ovaries and testis, mediastinum, retroperitoneal space, sacrococcygeal zone, pineal and other intracranial locations.
xref: NCIT:C3403
xref: SNOMEDCT_US:55818009
xref: UMLS:C0039538
is_a: HP:0002898 ! Embryonal neoplasm
is_a: HP:0100728 ! Germ cell neoplasia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-02-03T05:23:03Z

[Term]
id: HP:0009793
name: Presacral teratoma
def: "A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV)." [https://orcid.org/0000-0002-0736-9199]
comment: Sacrococcygeal teratomas are thought to originate from multipotential cells in Henson's node, which migrates caudally to rest in the coccyx.
synonym: "Altman type IV sacrococcygeal teratoma" EXACT []
synonym: "Retrorectal teratoma" EXACT []
xref: UMLS:C1867782
is_a: HP:0030736 ! Sacrococcygeal teratoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-02-03T05:23:57Z

[Term]
id: HP:0009794
name: Branchial anomaly
def: "Congenital developmental defect arising from the primitive branchial apparatus." [https://orcid.org/0009-0006-4530-3154]
comment: During embryonic development the major head and neck structures are formed from the five pharyngeal arches (bands of tissue). Incomplete, failed or persistent embryonic development of these arches results in several anomalies or defects in the neck.
subset: hposlim_core
synonym: "Abnormality of branchial apparatus" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of branchial arch" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Branchial abnormality" EXACT []
synonym: "Branchial anomalies" EXACT []
xref: UMLS:C1862066
is_a: HP:0025668 ! Abnormal neck morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-02-11T05:16:20Z

[Term]
id: HP:0009795
name: Branchial fistula
def: "A congenital fistula in the neck resulting from incomplete closure of a branchial cleft." [https://orcid.org/0009-0006-4530-3154]
subset: hposlim_core
synonym: "Branchial cleft fistula" EXACT []
xref: SNOMEDCT_US:204268008
xref: UMLS:C0546968
is_a: HP:0009794 ! Branchial anomaly
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-02-11T05:17:12Z

[Term]
id: HP:0009796
name: Branchial cyst
def: "A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region." [https://orcid.org/0009-0006-4530-3154]
comment: Branchial cyst have to be distinguished from the preauricular cysts and sinuses, which are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral, and are localized anterior to the tragus of the ear.
synonym: "Branchial cleft cyst" RELATED []
synonym: "Branchial cysts" EXACT []
xref: SNOMEDCT_US:42362005
xref: SNOMEDCT_US:59857007
xref: UMLS:C0006131
is_a: HP:0009794 ! Branchial anomaly
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-02-11T05:18:08Z

[Term]
id: HP:0009797
name: Cholesteatoma
def: "Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:363668000
xref: SNOMEDCT_US:575006
xref: UMLS:C0008373
is_a: HP:0008609 ! Abnormal middle ear morphology
is_a: HP:0100799 ! Neoplasm of the middle ear
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-02-11T05:20:04Z

[Term]
id: HP:0009798
name: Euthyroid goiter
def: "A goiter that is not associated with functional thyroid abnormalities." [https://orcid.org/0000-0002-0736-9199]
synonym: "Euthyroid goitre" EXACT uk_spelling []
xref: SNOMEDCT_US:32251000119106
xref: UMLS:C0302859
is_a: HP:0000853 ! Goiter
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-02-11T05:21:23Z

[Term]
id: HP:0009799
name: Supernumerary spleens
def: "The presence of two or more accessory spleens." [https://orcid.org/0000-0002-0736-9199]
synonym: "Extra spleen" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:10362008
xref: UMLS:C0266631
is_a: HP:0025408 ! Abnormal spleen morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-02-11T05:44:01Z

[Term]
id: HP:0009800
name: Maternal diabetes
def: "Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes." [https://orcid.org/0000-0002-0736-9199]
synonym: "gestational diabetes" EXACT layperson []
synonym: "Maternal diabetes" EXACT layperson []
synonym: "maternal hyperglycemia" NARROW []
xref: SNOMEDCT_US:11687002
xref: UMLS:C0085207
xref: UMLS:C4020778
is_a: HP:0002686 ! Pregnancy history
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-12T05:44:58Z

[Term]
id: HP:0009802
name: Aplasia of the phalanges of the hand
def: "Absence of one or more of the phalanges of the hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent finger bone of the hand" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024203
xref: UMLS:C4280393
is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand
is_a: HP:0009823 ! Aplasia involving bones of the upper limbs
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-12T05:56:07Z

[Term]
id: HP:0009803
name: Short phalanx of finger
alt_id: HP:0001168
alt_id: HP:0005771
alt_id: HP:0006087
alt_id: HP:0006126
def: "Short (hypoplastic) phalanx of finger, affecting one or more phalanges." [https://orcid.org/0009-0006-4530-3154]
synonym: "Hypoplastic phalanges" EXACT []
synonym: "Hypoplastic phalanges of hands" EXACT []
synonym: "Hypoplastic/small phalanges of the hand" EXACT []
synonym: "Phalangeal hypoplasia" EXACT []
synonym: "Rudimentary phalanges" EXACT []
synonym: "Short finger bones" EXACT layperson []
synonym: "Short phalanges" EXACT []
synonym: "Shortened phalanges" EXACT []
xref: UMLS:C0877165
is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-12T05:57:11Z

[Term]
id: HP:0009804
name: Tooth agenesis
def: "The absence of one or more teeth from the normal series by a failure to develop" [https://orcid.org/0009-0006-4530-3154, PMID:31468724]
comment: Teeth agenesis needs to be confirmed by X-rays. Teeth agenesis encompasses hypodontia, oligodontia, and anodontia. The total number and the type of teeth missing should be added to the description. The clinical absence of a tooth due to a disturbed eruption should not be termed teeth agenesis but a missing tooth.
synonym: "Decreased number of teeth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased tooth count" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Dental agenesis" EXACT []
synonym: "Failure of development of some teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Fewer teeth than normal" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing some teeth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Reduced number of teeth" EXACT layperson []
synonym: "Teeth, agenesis" EXACT plural_form []
xref: UMLS:C4024202
xref: UMLS:C4083050
is_a: HP:0006483 ! Abnormal number of teeth
creation_date: 2009-02-14T06:20:53Z

[Term]
id: HP:0009805
name: Low-output congestive heart failure
def: "A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024201
is_a: HP:0001635 ! Congestive heart failure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-02-16T11:10:18Z

[Term]
id: HP:0009806
name: Nephrogenic diabetes insipidus
def: "A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP)." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:111395007
xref: UMLS:C0162283
is_a: HP:0000873 ! Diabetes insipidus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-02-16T11:23:28Z

[Term]
id: HP:0009808
name: Anomaly of the upper limb diaphyses
alt_id: HP:0003857
def: "A structural abnormality of a diaphysis of the arm." [HPO_CONTRIBUTOR:UToronto_htrang]
synonym: "Abnormality involving the diaphyses of the upper limbs" EXACT []
synonym: "Abnormality of shaft of long bone of the upper limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Diaphyseal abnormality of the upper limbs" EXACT []
xref: UMLS:C4021389
is_a: HP:0000940 ! Abnormal diaphysis morphology
is_a: HP:0002817 ! Abnormality of the upper limb
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-23T04:55:36Z

[Term]
id: HP:0009809
name: Abnormal upper limb metaphysis morphology
alt_id: HP:0003847
def: "An anomaly of one or more metaphyses of the arms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the wide portion of upper limb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of upper limb metaphysis" EXACT []
synonym: "Metaphyseal abnormality of the upper limbs" EXACT []
xref: UMLS:C4021388
is_a: HP:0000944 ! Abnormal metaphysis morphology
is_a: HP:0002817 ! Abnormality of the upper limb
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-23T04:55:36Z

[Term]
id: HP:0009810
name: Abnormality of upper limb joint
synonym: "Abnormality of the joints of the upper limbs" EXACT layperson []
synonym: "Abnormality of upper limb joint" EXACT layperson []
xref: UMLS:C4021387
is_a: HP:0001367 ! Abnormal joint morphology
is_a: HP:0002817 ! Abnormality of the upper limb
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-23T04:57:56Z

[Term]
id: HP:0009811
name: Abnormality of the elbow
alt_id: HP:0002966
def: "An anomaly of the joint that connects the upper and the lower arm." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the elbow" EXACT layperson []
synonym: "Abnormality of the elbows" EXACT layperson []
xref: UMLS:C4021386
is_a: HP:0009810 ! Abnormality of upper limb joint
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-23T04:59:43Z

[Term]
id: HP:0009812
name: Amelia involving the upper limbs
def: "Amelia of one or both upper limbs." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024200
is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs
is_a: HP:0009827 ! Amelia
is_a: HP:6000918 ! Transverse terminal upper limb defect
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-23T05:06:12Z

[Term]
id: HP:0009813
name: Upper limb phocomelia
def: "Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia)." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:253926000
xref: UMLS:C0265573
is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs
is_a: HP:0009829 ! Phocomelia
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-23T05:06:12Z

[Term]
id: HP:0009814
name: Upper limb peromelia
def: "Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation." [https://orcid.org/0009-0006-4530-3154]
xref: UMLS:C4024199
is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs
is_a: HP:0009828 ! Peromelia
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-23T05:06:12Z

[Term]
id: HP:0009815
name: Aplasia/hypoplasia of the extremities
alt_id: HP:0002969
alt_id: HP:0006497
def: "Absence (due to failure to form) or underdevelopment of the extremities." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small extremities" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped extremities" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Short or absent limbs" EXACT []
synonym: "Shortened limbs" EXACT []
xref: UMLS:C0239399
is_a: HP:0009115 ! Aplasia/hypoplasia involving the skeleton
is_a: HP:0040064 ! Abnormality of limbs
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-23T05:06:40Z

[Term]
id: HP:0009816
name: Lower limb undergrowth
alt_id: HP:0003087
alt_id: HP:0005884
alt_id: HP:0006399
def: "Leg shortening because of underdevelopment of one or more bones of the lower extremity." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplasia involving bones of the lower limbs" EXACT []
synonym: "Hypoplasia of the lower limbs" EXACT []
synonym: "Lower limb undergrowth" EXACT layperson []
synonym: "Underdeveloped lower limb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:253959002
xref: UMLS:C0345371
is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs
is_a: HP:0009826 ! Limb undergrowth
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-23T05:09:32Z

[Term]
id: HP:0009817
name: Aplasia involving bones of the lower limbs
synonym: "Absent bones of the lower limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024198
is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs
is_a: HP:0009825 ! Aplasia involving bones of the extremities
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-23T05:10:03Z

[Term]
id: HP:0009818
name: Amelia involving the lower limbs
def: "Complete or near-complete absence of a leg." [https://orcid.org/0000-0002-0736-9199, PMID:2305372]
xref: UMLS:C4024197
is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs
is_a: HP:0009827 ! Amelia
is_a: HP:6000946 ! Transverse terminal lower limb defect
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-23T05:11:07Z

[Term]
id: HP:0009819
name: Lower limb phocomelia
def: "Phocomelia affecting only the lower limbs." [https://orcid.org/0009-0006-4530-3154]
xref: SNOMEDCT_US:253963009
xref: UMLS:C0265625
is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs
is_a: HP:0009829 ! Phocomelia
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-23T05:11:07Z

[Term]
id: HP:0009820
name: Lower limb peromelia
def: "Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation." [https://orcid.org/0009-0006-4530-3154]
xref: UMLS:C4024196
is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet
is_a: HP:0009828 ! Peromelia
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-23T05:11:07Z

[Term]
id: HP:0009821
name: Forearm undergrowth
alt_id: HP:0003024
alt_id: HP:0003968
alt_id: HP:0006405
def: "Forearm shortening because of underdevelopment of one or more bones of the forearm." [https://orcid.org/0000-0002-0736-9199]
synonym: "Forearm undergrowth" EXACT layperson []
synonym: "Hypoplasia involving forearm bones" EXACT []
synonym: "Short forearm bones" EXACT layperson []
synonym: "Short forearms" EXACT layperson []
synonym: "Shortened forearm" EXACT layperson []
xref: UMLS:C1855299
is_a: HP:0003026 ! Short long bone
is_a: HP:0006503 ! Aplasia/hypoplasia involving forearm bones
is_a: HP:0009824 ! Upper limb undergrowth
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-23T05:11:42Z

[Term]
id: HP:0009822
name: Aplasia involving forearm bones
synonym: "Absent forearm bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024195
is_a: HP:0006503 ! Aplasia/hypoplasia involving forearm bones
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-23T05:12:10Z

[Term]
id: HP:0009823
name: Aplasia involving bones of the upper limbs
synonym: "Absent bones of the upper limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024194
is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs
is_a: HP:0009825 ! Aplasia involving bones of the extremities
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-23T05:13:20Z

[Term]
id: HP:0009824
name: Upper limb undergrowth
alt_id: HP:0003056
alt_id: HP:0006364
def: "Arm shortening because of underdevelopment of one or more bones of the upper extremity." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplasia involving bones of the upper limbs" EXACT []
synonym: "Short arms" EXACT layperson []
synonym: "Shortening of the arms" EXACT layperson []
synonym: "Upper limb undergrowth" EXACT layperson []
xref: UMLS:C1837406
is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs
is_a: HP:0009826 ! Limb undergrowth
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-23T05:13:20Z

[Term]
id: HP:0009825
name: Aplasia involving bones of the extremities
synonym: "Absent bones of the extremities" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024193
is_a: HP:0045060 ! Aplasia/hypoplasia involving bones of the extremities
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-23T05:16:44Z

[Term]
id: HP:0009826
name: Limb undergrowth
alt_id: HP:0003058
alt_id: HP:0005049
alt_id: HP:0005057
def: "Limb shortening because of underdevelopment of one or more bones of the extremities." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplasia involving bones of the extremities" EXACT []
synonym: "limb shortening" EXACT layperson []
synonym: "Limb undergrowth" EXACT layperson []
synonym: "Short limb" EXACT layperson []
synonym: "Short limbs" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C0239399
is_a: HP:0009815 ! Aplasia/hypoplasia of the extremities
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-23T05:16:44Z

[Term]
id: HP:0009827
name: Amelia
def: "Congenital absence (aplasia) of one or more limbs." [https://orcid.org/0009-0006-4530-3154]
subset: hposlim_core
xref: MEDDRA:10001926 "Amelia"
xref: SNOMEDCT_US:62588002
xref: UMLS:C0002447
is_a: HP:0009815 ! Aplasia/hypoplasia of the extremities
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-23T05:17:25Z

[Term]
id: HP:0009828
name: Peromelia
def: "The distal parts of the limbs are missing leading to a stump formation." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024192
is_a: HP:0009815 ! Aplasia/hypoplasia of the extremities
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-23T05:17:25Z

[Term]
id: HP:0009829
name: Phocomelia
alt_id: HP:0002994
def: "Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia)." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
xref: MEDDRA:10034923 "Phocomelia"
xref: SNOMEDCT_US:22841008
xref: UMLS:C0031575
is_a: HP:0009815 ! Aplasia/hypoplasia of the extremities
is_a: HP:0011314 ! Abnormal long bone morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-02-23T05:17:25Z

[Term]
id: HP:0009830
name: Peripheral neuropathy
alt_id: HP:0003157
alt_id: HP:0003407
alt_id: HP:0007088
alt_id: HP:0007235
alt_id: HP:0007355
def: "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [https://orcid.org/0009-0006-4530-3154]
comment: Terms from this subhierarchy should be used to describe morphological abnormalities seen in peripheral neuropathy. Functional deficits should be coded separately.
synonym: "Neuropathy" RELATED []
synonym: "Peripheral nerve damage" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Peripheral neuritis" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:302226006
xref: SNOMEDCT_US:386033004
xref: SNOMEDCT_US:42658009
xref: UMLS:C0031117
xref: UMLS:C0442874
is_a: HP:0012638 ! Abnormal nervous system physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-03-01T07:49:18Z

[Term]
id: HP:0009831
name: Mononeuropathy
def: "A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution." [https://orcid.org/0000-0002-0736-9199]
synonym: "Single damaged nerve" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:128189008
xref: UMLS:C0494491
is_a: HP:0009830 ! Peripheral neuropathy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-03-01T08:27:29Z

[Term]
id: HP:0009832
name: Abnormal distal phalanx morphology of finger
alt_id: HP:0005919
def: "Any anomaly of distal phalanx of finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal terminal phalanges of the hand" EXACT []
synonym: "Abnormality of the distal phalanges of the hand" EXACT []
synonym: "Abnormality of the distal phalanx of finger" EXACT []
synonym: "Abnormality of the outermost finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021385
is_a: HP:0005918 ! Abnormal finger phalanx morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-03-11T12:01:39Z

[Term]
id: HP:0009833
name: Abnormal middle phalanx morphology of the hand
def: "An anomaly of middle phalanx of finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the middle finger bones of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the middle phalanges of the hand" EXACT []
xref: UMLS:C4024191
is_a: HP:0005918 ! Abnormal finger phalanx morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-03-11T12:01:39Z

[Term]
id: HP:0009834
name: Abnormal proximal phalanx morphology of the hand
synonym: "Abnormality of the innermost finger bones of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the proximal phalanges of the hand" EXACT []
xref: UMLS:C4024190
is_a: HP:0005918 ! Abnormal finger phalanx morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-03-11T12:01:39Z

[Term]
id: HP:0009835
name: Aplasia/Hypoplasia of the distal phalanges of the hand
alt_id: HP:0005635
alt_id: HP:0006037
alt_id: HP:0006066
alt_id: HP:0006235
def: "Absence or underdevelopment of the distal phalanges." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/hypoplastic distal phalanges" EXACT []
synonym: "Absent/small outermost finger bone of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped outermost finger bone of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Aplasia/Hypoplasia of the distal phalanges" EXACT []
synonym: "Aplastic/hypoplastic distal phalanges" EXACT []
synonym: "Hypoplastic to absent terminal phalanges" EXACT []
synonym: "Hypoplastic/aplastic distal phalanges" EXACT []
synonym: "Hypoplastic/aplastic distal phalanx" EXACT []
synonym: "Small or absent distal phalanges" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1861336
is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand
is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-03-11T12:10:11Z

[Term]
id: HP:0009836
name: Broad distal phalanx of finger
alt_id: HP:0003120
alt_id: HP:0006113
alt_id: HP:0006197
alt_id: HP:0006241
alt_id: HP:0009859
def: "Abnormally wide (broad) distal phalanx of finger." [https://orcid.org/0009-0006-4530-3154]
comment: This term should be reserved for a radiological finding of increased width of the distal finger phalanx (bone). The term Broad fingertip should be used to denote a clinical impression of increased side to side width of the distance part of the finger.
synonym: "Broad distal phalanges" EXACT []
synonym: "Broad distal phalanges of the hand" EXACT []
synonym: "Broad distal phalanx" EXACT []
synonym: "Broad outermost finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Broad terminal phalanges" EXACT []
synonym: "Broad, square ends of distal phalanges" EXACT []
synonym: "Spatulate terminal phalanges" EXACT []
xref: UMLS:C1850630
is_a: HP:0009768 ! Broad phalanges of the hand
is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-03-11T12:10:11Z

[Term]
id: HP:0009837
name: Bullet-shaped distal phalanges of the hand
alt_id: HP:0009860
def: "Short and wide distal phalanges that taper distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." []
synonym: "Bullet-shaped outermost finger bone of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024189
is_a: HP:0009769 ! Bullet-shaped phalanges of the hand
is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-03-11T12:10:11Z

[Term]
id: HP:0009838
name: Curved distal phalanges of the hand
alt_id: HP:0009862
synonym: "Curved outermost finger bone of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024188
is_a: HP:0009770 ! Curved phalanges of the hand
is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-03-11T12:10:11Z

[Term]
id: HP:0009839
name: Osteolytic defects of the distal phalanges of the hand
alt_id: HP:0001219
alt_id: HP:0009865
synonym: "Acro-osteolysis of distal phalanges" EXACT []
synonym: "Acroosteolysis of distal phalanges" EXACT []
synonym: "Osteolytic defects of the outermost finger bone of the hand" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1849547
is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand
is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-03-11T12:10:11Z

[Term]
id: HP:0009840
name: Patchy sclerosis of distal phalanx of finger
alt_id: HP:0009868
def: "Uneven (irregular) increase in bone density of the distal phalanges of the hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Patchy sclerosis of the distal phalanges of the hand" EXACT []
synonym: "Uneven increase in bone density in outermost finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021384
is_a: HP:0009772 ! Patchy sclerosis of finger phalanx
is_a: HP:0100915 ! Sclerosis of distal finger phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-03-11T12:10:11Z

[Term]
id: HP:0009843
name: Aplasia/Hypoplasia of the middle phalanges of the hand
alt_id: HP:0005810
alt_id: HP:0006063
alt_id: HP:0006148
synonym: "Absent/hypoplastic middle phalanges" EXACT []
synonym: "Absent/small middle finger bone of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped middle finger bone of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Aplasia/hypoplasia of middle phalanges" EXACT []
synonym: "Aplastic/hypoplastic middle phalanges" EXACT []
synonym: "Hypoplastic/aplastic middle phalanx" EXACT []
synonym: "Short to absent middle phalanges" EXACT []
synonym: "Short/absent middle phalanges" EXACT []
xref: UMLS:C1862152
is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand
is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-03-11T12:15:55Z

[Term]
id: HP:0009844
name: Broad middle phalanx of finger
def: "Increased width of the middle phalanx of finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad middle finger bones" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Broad middle phalanges of finger" EXACT []
synonym: "Broad middle phalanges of the hand" EXACT []
xref: UMLS:C4021383
is_a: HP:0009768 ! Broad phalanges of the hand
is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-03-11T12:15:55Z

[Term]
id: HP:0009845
name: Bullet-shaped middle phalanges of the hand
alt_id: HP:0006038
def: "Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024187
is_a: HP:0009769 ! Bullet-shaped phalanges of the hand
is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-03-11T12:15:55Z

[Term]
id: HP:0009846
name: Curved middle phalanges of the hand
alt_id: HP:0009863
synonym: "Curved middle finger bonds of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024186
is_a: HP:0009770 ! Curved phalanges of the hand
is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-03-11T12:15:55Z

[Term]
id: HP:0009847
name: Osteolytic defects of the middle phalanges of the hand
alt_id: HP:0009866
xref: UMLS:C4024185
is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand
is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-03-11T12:15:55Z

[Term]
id: HP:0009848
name: Patchy sclerosis of middle phalanx of finger
alt_id: HP:0009870
def: "Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Patchy sclerosis of the middle phalanges of the hand" EXACT []
synonym: "Uneven increase in bone density in the middle finger bones of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021382
is_a: HP:0009772 ! Patchy sclerosis of finger phalanx
is_a: HP:0100916 ! Sclerosis of middle finger phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-03-11T12:15:55Z

[Term]
id: HP:0009849
name: Symphalangism of middle phalanx of finger
alt_id: HP:0009872
def: "Fusion of a middle phalanx of a finger with another bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fused middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024184
is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand
is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-03-11T12:15:55Z

[Term]
id: HP:0009850
name: Triangular shaped middle phalanges of the hand
alt_id: HP:0009876
synonym: "Triangular shaped middle finger bones of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024183
is_a: HP:0009774 ! Triangular shaped phalanges of the hand
is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-03-11T12:15:55Z

[Term]
id: HP:0009851
name: Aplasia/Hypoplasia of the proximal phalanges of the hand
synonym: "Absent/small innermost finger bones of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped innermost finger bones of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024182
is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand
is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-03-11T12:16:33Z

[Term]
id: HP:0009852
name: Broad proximal phalanges of the hand
alt_id: HP:0006168
def: "Increased width of the proximal phalanges of the finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad innermost finger bones of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Wide innermost finger bones of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024181
is_a: HP:0009768 ! Broad phalanges of the hand
is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-03-11T12:16:33Z

[Term]
id: HP:0009853
name: Bullet-shaped proximal phalanges of the hand
alt_id: HP:0009861
def: "Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped innermost finger bones of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024180
is_a: HP:0009769 ! Bullet-shaped phalanges of the hand
is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-03-11T12:16:33Z

[Term]
id: HP:0009854
name: Curved proximal phalanges of the hand
alt_id: HP:0009864
synonym: "Curved innermost finger bones of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024179
is_a: HP:0009770 ! Curved phalanges of the hand
is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-03-11T12:16:33Z

[Term]
id: HP:0009855
name: Osteolytic defects of the proximal phalanges of the hand
alt_id: HP:0006050
alt_id: HP:0009867
synonym: "Proximal phalanges osteolysis" EXACT []
xref: UMLS:C1850148
is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand
is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-03-11T12:16:33Z

[Term]
id: HP:0009856
name: Patchy sclerosis of proximal phalanx of finger
alt_id: HP:0009869
def: "Uneven increase in bone density of the proximal phalanges of the hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Patchy sclerosis of the proximal phalanges of the hand" EXACT []
synonym: "Uneven increase in bone density in innermost finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021381
is_a: HP:0009772 ! Patchy sclerosis of finger phalanx
is_a: HP:0100917 ! Sclerosis of proximal finger phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-03-11T12:16:33Z

[Term]
id: HP:0009857
name: Symphalangism affecting the proximal phalanges of the hand
alt_id: HP:0009873
synonym: "Fused innermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024178
is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand
is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-03-11T12:16:33Z

[Term]
id: HP:0009858
name: Triangular shaped proximal phalanges of the hand
alt_id: HP:0009877
synonym: "Triangular shaped innermost finger bone" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024177
is_a: HP:0009774 ! Triangular shaped phalanges of the hand
is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-03-11T12:16:33Z

[Term]
id: HP:0009875
name: Triangular shaped distal phalanges of the hand
alt_id: HP:0006061
alt_id: HP:0009842
synonym: "Triangular shaped outermost bone of the hand" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4024176
is_a: HP:0009774 ! Triangular shaped phalanges of the hand
is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-03-11T01:53:07Z

[Term]
id: HP:0009878
name: Cerebellar ataxia associated with quadrupedal gait
def: "The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight)." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024175
is_a: HP:0001251 ! Ataxia
is_a: HP:0001288 ! Gait disturbance
creation_date: 2009-03-28T05:22:45Z

[Term]
id: HP:0009879
name: Simplified gyral pattern
def: "An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly." [http://www.wikidata.org/entity/Q90573458, https://orcid.org/0000-0002-0736-9199, PMID:22427329]
synonym: "Cortical gyral simplification" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C2749675
is_a: HP:0002536 ! Abnormal cortical gyration
creation_date: 2009-03-28T06:23:59Z

[Term]
id: HP:0009880
name: Broad distal phalanges of all fingers
alt_id: HP:0005816
def: "Abnormally wide (broad) distal phalanx of finger of all fingers." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad outermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024174
is_a: HP:0009836 ! Broad distal phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-04-24T04:18:59Z

[Term]
id: HP:0009881
name: Aplasia of the distal phalanges of the hand
synonym: "Absent distal phalanges of the hand" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent outermost hand bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Aplasia of outermost hand bone" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024173
is_a: HP:0009380 ! Finger aplasia
is_a: HP:0009802 ! Aplasia of the phalanges of the hand
is_a: HP:0009835 ! Aplasia/Hypoplasia of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-04-24T04:29:30Z

[Term]
id: HP:0009882
name: Short distal phalanx of finger
alt_id: HP:0001198
alt_id: HP:0001202
alt_id: HP:0001221
alt_id: HP:0001229
alt_id: HP:0005669
alt_id: HP:0006075
alt_id: HP:0006076
alt_id: HP:0006132
alt_id: HP:0006199
alt_id: HP:0006223
def: "Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
comment: This term differs from Partial absence of the finger because in that term, the phalanx must be missing, whereas in this term it may be small, but present. Distal phalangeal lengths can be assessed subjectively by comparing that digit segment to the rest of the digit, to other normal digits in that patient, or to typical patients of that age or build. Regarding the subjective definition, for individuals who do not have flexion creases, one may determine this by flexing the DIP joint and estimating the length of the terminal segment of the digit. Alternatively, one may be able to palpate the joint.
subset: hposlim_core
synonym: "Brachytelophalangy" EXACT []
synonym: "Distal phalangeal hypoplasia" EXACT []
synonym: "Hypoplasia of the distal phalanges" EXACT []
synonym: "Hypoplasia of the distal phalanges of the hand" EXACT []
synonym: "Hypoplastic distal phalanges" EXACT []
synonym: "Hypoplastic terminal phalanges" EXACT []
synonym: "Short distal phalanges" EXACT []
synonym: "Short outermost finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Terminal phalangeal hypoplasia of hand" EXACT []
xref: UMLS:C1839829
is_a: HP:0009381 ! Short finger
is_a: HP:0009803 ! Short phalanx of finger
is_a: HP:0009835 ! Aplasia/Hypoplasia of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-04-24T04:29:30Z

[Term]
id: HP:0009883
name: Duplication of the distal phalanx of hand
alt_id: HP:0001228
alt_id: HP:0010007
def: "This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [https://orcid.org/0009-0006-4530-3154]
synonym: "Bifid terminal phalanges" EXACT []
synonym: "Duplication of the outermost bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Notched outermost bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial/complete duplication of the distal phalanges of the hand" EXACT []
xref: UMLS:C1849343
is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger
is_a: HP:0009997 ! Duplication of phalanx of hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-04-24T04:33:55Z

[Term]
id: HP:0009884
name: Tapered distal phalanges of finger
alt_id: HP:0006052
def: "A reduction in diameter of the distal phalanx of finger towards the distal end." [https://orcid.org/0000-0002-0736-9199]
synonym: "Tapered distal phalanges" EXACT []
synonym: "Tapered distal phalanges of the hand" EXACT []
synonym: "Tapered outermost finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1969237
is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-04-24T04:40:31Z

[Term]
id: HP:0009885
name: obsolete Prenatal short stature
is_obsolete: true
consider: HP:0001511

[Term]
id: HP:0009886
name: Trichorrhexis nodosa
def: "Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:22486004
xref: SNOMEDCT_US:238736006
xref: UMLS:C0263485
is_a: HP:0003328 ! Abnormal hairshaft morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-04-30T05:51:57Z

[Term]
id: HP:0009887
name: Abnormality of hair pigmentation
def: "An abnormality of hair pigmentation (color)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of hair color" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of hair colour" EXACT uk_spelling []
synonym: "Abnormality of hair pigmentation" EXACT layperson []
xref: UMLS:C4024172
is_a: HP:0001595 ! Abnormal hair morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-04-30T06:00:53Z

[Term]
id: HP:0009888
name: Abnormality of secondary sexual hair
def: "Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of secondary sexual hair" EXACT layperson []
xref: UMLS:C4024171
is_a: HP:0001595 ! Abnormal hair morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-04-30T06:18:33Z

[Term]
id: HP:0009889
name: Localized hirsutism
def: "Abnormally increased hair growth with a localized distribution." [https://orcid.org/0000-0002-0736-9199]
synonym: "Localised abnormal hair growth" EXACT uk_spelling []
synonym: "Localised hirsutism" EXACT uk_spelling []
synonym: "Localized abnormal hair growth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4024170
is_a: HP:0001007 ! Hirsutism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-04-30T06:29:20Z

[Term]
id: HP:0009890
name: High anterior hairline
def: "Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella." [PMID:19125436]
comment: This feature gives the appearance of a tall forehead, and may or may not include reduction of hair in the temporal areas. This can be distinguished from male pattern baldness as the hairline is the superior boundary of the muscular forehead, which can be actively wrinkled, in contrast to the scalp where no wrinkling can occur. In addition, texture of the skin of the scalp differs from the texture of the skin over the forehead.
subset: hposlim_core
synonym: "High frontal hairline" EXACT layperson []
xref: UMLS:C3276036
is_a: HP:0000599 ! Abnormality of the frontal hairline
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-04-30T06:34:27Z

[Term]
id: HP:0009891
name: Underdeveloped supraorbital ridges
alt_id: HP:0004667
alt_id: HP:0004672
alt_id: HP:0005337
def: "Flatness of the supraorbital portion of the frontal bones." [https://orcid.org/0000-0002-0736-9199, PMID:19125436]
subset: hposlim_core
synonym: "Depressed supraorbital margins" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Depressed supraorbital ridge" EXACT []
synonym: "Flat supraorbital margins" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Flat supraorbital ridge" EXACT []
synonym: "Flattened bony protrusion above eyes" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Hypoplasia of supraorbital margins" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplasia of the supraorbital ridges" EXACT []
synonym: "Hypoplastic supraorbital ridges" EXACT []
synonym: "Shallow orbital ridges" EXACT []
synonym: "Shallow supraorbital ridge" EXACT []
synonym: "Underdeveloped brows" RELATED layperson []
xref: UMLS:C1861869
xref: UMLS:C4020777
is_a: HP:0100538 ! Abnormality of the supraorbital ridges
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-04-30T06:50:09Z

[Term]
id: HP:0009892
name: Anotia
def: "Complete absence of any auricular structures." [https://orcid.org/0000-0002-0736-9199, PMID:19125421]
comment: Complete absence of the auricle (external ear). The skin of the cheek passes smoothly over the aural area without definite elevation or depression.
subset: hposlim_core
synonym: "Absent ear" RELATED layperson []
synonym: "Absent ears" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Congenital absence of external ear" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:57436000
xref: UMLS:C0702139
xref: UMLS:C1408788
is_a: HP:0008772 ! Aplasia/Hypoplasia of the external ear
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-04-30T06:53:41Z

[Term]
id: HP:0009893
name: Telangiectasia of the ear
def: "The presence of telangiectasia of the ear." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
xref: UMLS:C4024169
is_a: HP:0000377 ! Abnormal pinna morphology
is_a: HP:0100585 ! Telangiectasia of the skin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-04-30T10:07:39Z

[Term]
id: HP:0009894
name: Thickened ears
def: "Increased thickness of the external ear." []
subset: hposlim_core
synonym: "Thickened ears" EXACT layperson []
xref: UMLS:C4024168
is_a: HP:0000377 ! Abnormal pinna morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-04-30T10:09:17Z

[Term]
id: HP:0009895
name: Abnormality of the crus of the helix
def: "An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the crus of the ear" EXACT []
xref: UMLS:C4021380
is_a: HP:0011039 ! Abnormal helix morphology
is_a: HP:3000022 ! Abnormal external ear cartilage morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-04-30T10:32:41Z

[Term]
id: HP:0009896
name: Abnormal antitragus morphology
def: "An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
xref: UMLS:C4024167
is_a: HP:0000377 ! Abnormal pinna morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-04-30T10:13:21Z

[Term]
id: HP:0009897
name: Horizontal crus of helix
def: "An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly." [https://orcid.org/0000-0002-0736-9199, PMID:19152421]
comment: The term 'railroad track sign' has been used to describe prominent horizontal crus of the helix in combination with prominent and parallel inferior crus of the antihelix. It is preferable to simply describe each component separately.
subset: hposlim_core
synonym: "Helix, crus, horizontal" EXACT []
synonym: "Horizontal orientation of the crus of helix" EXACT []
synonym: "Horizontal orientation of the ear crus" EXACT []
synonym: "Railroad track ears" RELATED obsolete_synonym []
synonym: "Railroad track sign" RELATED obsolete_synonym []
xref: UMLS:C4021379
is_a: HP:0009895 ! Abnormality of the crus of the helix
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-04-30T10:34:52Z

[Term]
id: HP:0009898
name: Underdeveloped crus of the helix
def: "Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average." [https://orcid.org/0000-0002-0736-9199, PMID:19152421]
subset: hposlim_core
synonym: "Hypoplasia of the crus of the ear" EXACT []
synonym: "Underdeveloped crus of the ear" EXACT []
xref: UMLS:C4021378
is_a: HP:0009895 ! Abnormality of the crus of the helix
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-04-30T10:36:43Z

[Term]
id: HP:0009899
name: Prominent crus of helix
def: "The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix." [https://orcid.org/0000-0002-0736-9199, PMID:19152421]
subset: hposlim_core
synonym: "Abnormal prominence of the crus of the ear" EXACT []
synonym: "Helix, crus, prominent" EXACT []
synonym: "Hyperplastic helix crus" EXACT []
synonym: "Hypertrophic helix crus" EXACT []
xref: UMLS:C4021377
is_a: HP:0009895 ! Abnormality of the crus of the helix
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-04-30T10:38:06Z

[Term]
id: HP:0009900
name: Unilateral deafness
def: "A unilateral absence of sensory perception of sound." [https://orcid.org/0000-0002-0736-9199]
comment: Deafness affecting only one ear.
synonym: "Deafness in one ear" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Deafness, unilateral" EXACT []
xref: SNOMEDCT_US:162342008
xref: UMLS:C2607947
is_a: HP:0000365 ! Hearing impairment
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-04-30T10:42:23Z

[Term]
id: HP:0009901
name: Crumpled ear
def: "Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds." [PMID:19152421]
comment: This is distinct from Stahl ear and Shell ear, with which the term has sometimes been conflated. The appearance often changes markedly after birth.
subset: hposlim_core
synonym: "Cauliflower ear" BROAD []
synonym: "Crumpled ear" EXACT layperson []
xref: UMLS:C4024166
is_a: HP:0000377 ! Abnormal pinna morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-04-30T10:50:28Z

[Term]
id: HP:0009902
name: Cleft helix
def: "A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length." [https://orcid.org/0000-0002-0736-9199, PMID:19152421]
comment: This may take the form of a sharp cleft or a less well-demarcated area. This should be distinguished from a Question-mark ear. If the defect or notch occurs at the junction of the superior and descending portions of the helix, it should be coded as Darwin notch of the helix.
subset: hposlim_core
synonym: "Notched helix" EXACT []
synonym: "Notching of the ear helix" EXACT []
xref: UMLS:C4021376
is_a: HP:0011039 ! Abnormal helix morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-04-30T10:52:45Z

[Term]
id: HP:0009903
name: Conjunctival nodule
def: "Presence of nodules in the conjunctiva of the eye." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
xref: SNOMEDCT_US:428477002
xref: UMLS:C1996949
is_a: HP:0000502 ! Abnormal conjunctiva morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-02T05:04:15Z

[Term]
id: HP:0009904
name: Prominent ear helix
def: "Abnormally prominent ear helix." [https://orcid.org/0000-0002-0736-9199]
synonym: "Large helix" RELATED []
xref: UMLS:C4020776
xref: UMLS:C4024165
is_a: HP:0011039 ! Abnormal helix morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-01T02:49:39Z

[Term]
id: HP:0009905
name: Thin ear helix
def: "Decreased thickness of the helix of the ear." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
xref: UMLS:C4024164
is_a: HP:0011039 ! Abnormal helix morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-01T02:50:35Z

[Term]
id: HP:0009906
name: Aplasia/Hypoplasia of the earlobes
def: "Absence or underdevelopment of the ear lobes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small ear lobes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped ear lobes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1851792
is_a: HP:0000363 ! Abnormal earlobe morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-01T02:55:12Z

[Term]
id: HP:0009907
name: Attached earlobe
def: "Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward." [PMID:19152421]
comment: The earlobe does not have a dependent portion.
subset: hposlim_core
synonym: "Adherent earlobe" EXACT []
synonym: "Attached earlobe" EXACT layperson []
xref: UMLS:C4021375
is_a: HP:0000363 ! Abnormal earlobe morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-01T02:57:50Z

[Term]
id: HP:0009908
name: Anterior creases of earlobe
alt_id: HP:0008604
def: "Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe." [PMID:19152421]
comment: Shallow grooves or indentations are quite common, especially in large lobes. Ear lobe creases may arise postnatally. Posterior helical pits can be a related finding but should be assessed and coded separately.
subset: hposlim_core
synonym: "Earlobe crease" EXACT layperson []
synonym: "Transverse earlobe creases" EXACT []
xref: UMLS:C1851897
is_a: HP:0000363 ! Abnormal earlobe morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-01T03:00:22Z

[Term]
id: HP:0009909
name: Uplifted earlobe
alt_id: HP:0009764
def: "An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly." [https://orcid.org/0000-0002-0736-9199, PMID:19152421]
comment: This finding is characteristic of Mowat-Wilson syndrome.
subset: hposlim_core
synonym: "Fleshy upturned lobules" EXACT []
synonym: "Lobe, uplifted" EXACT layperson []
synonym: "Uplifted earlobe" EXACT layperson []
synonym: "Uplifted earlobes" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Upturned earlobe" EXACT layperson []
synonym: "Upturned earlobes" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1856117
is_a: HP:0000363 ! Abnormal earlobe morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-01T03:02:07Z

[Term]
id: HP:0009910
name: Aplasia of the middle ear ossicles
def: "Absence of the middle ear ossicles, malleus, incus, and stapes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent middle ear bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent middle ear ossicles" EXACT []
xref: UMLS:C4021374
is_a: HP:0004452 ! Abnormality of the middle ear ossicles
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-01T03:26:53Z

[Term]
id: HP:0009911
name: Abnormal temporal bone morphology
def: "Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the temporal bone" EXACT []
xref: UMLS:C4024163
is_a: HP:0000929 ! Abnormal skull morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-01T03:33:17Z

[Term]
id: HP:0009912
name: Abnormal tragus morphology
def: "An abnormality of the tragus." [https://orcid.org/0000-0002-0736-9199]
comment: The tragus is the small pointed eminence of the external ear, situated in front of the concha, and projecting backward over the auditory canal.
synonym: "Abnormality of the tragus" EXACT []
xref: UMLS:C4024162
is_a: HP:0000377 ! Abnormal pinna morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-01T03:39:56Z

[Term]
id: HP:0009913
name: Aplasia/Hypoplasia of the tragus
def: "Aplasia or developmental hypoplasia of the tragus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small tragus" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped tragus" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024161
is_a: HP:0009912 ! Abnormal tragus morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-01T03:43:12Z

[Term]
id: HP:0009914
name: Cyclopia
def: "Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose." [HPO_CONTRIBUTOR:DDD_ncarter]
subset: hposlim_core
synonym: "Cyclops eye" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Single central eye" EXACT layperson []
xref: SNOMEDCT_US:205798005
xref: UMLS:C0266667
is_a: HP:0100886 ! Abnormality of globe location
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-01T03:52:15Z

[Term]
id: HP:0009915
name: Corneal asymmetry
def: "The presence of a size difference between the left and right cornea." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Asymmetry of the corneas" EXACT layperson []
xref: UMLS:C4021373
is_a: HP:0001120 ! Abnormality of corneal size
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-02T05:06:20Z

[Term]
id: HP:0009916
name: Anisocoria
def: "Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease." [https://orcid.org/0000-0002-0736-9199]
comment: Pathologic anisocoria can reflect an abnormality of the musculature of the iris or of the sympathetic or prasympathetic innervation of the iris.
subset: hposlim_core
synonym: "Asymmetric pupil sizes" EXACT layperson []
synonym: "Asymmetry of the pupils" EXACT layperson []
synonym: "Unequal pupil dilatation" EXACT []
synonym: "Unequal pupil size" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:13045009
xref: UMLS:C0003079
is_a: HP:0000615 ! Abnormal pupil morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-02T05:46:50Z

[Term]
id: HP:0009917
name: Persistent pupillary membrane
def: "The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil." [https://orcid.org/0000-0002-0736-9199]
comment: The tunica vasculosa lentis anterior (pupillary membrane) normally undergoes atrophy in the third trimester of pregnancy. If the membrane does not completely atrophy, then remnants of membranous structures can be observed to emrge from the iris.
xref: SNOMEDCT_US:95500008
xref: UMLS:C0344541
is_a: HP:0000615 ! Abnormal pupil morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-02T05:51:28Z

[Term]
id: HP:0009918
name: Ectopia pupillae
def: "A malposition of the pupil owing to a developmental defect of the iris." [https://orcid.org/0000-0001-8727-6592, https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Corectopia" EXACT []
synonym: "Displaced pupil" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:193523008
xref: SNOMEDCT_US:392461003
xref: UMLS:C1271219
is_a: HP:0000615 ! Abnormal pupil morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-02T06:01:01Z

[Term]
id: HP:0009919
name: Retinoblastoma
def: "A tumor of the eye originating from cells of the retina." [https://orcid.org/0000-0002-0736-9199]
synonym: "Retina tumor" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Retina tumour" BROAD uk_spelling []
xref: NCIT:C7541
xref: SNOMEDCT_US:127002001
xref: SNOMEDCT_US:19906005
xref: SNOMEDCT_US:370967009
xref: UMLS:C0035335
xref: UMLS:C0524801
is_a: HP:0002898 ! Embryonal neoplasm
is_a: HP:0012777 ! Retinal neoplasm
is_a: HP:0030063 ! Neuroepithelial neoplasm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-02T06:23:25Z

[Term]
id: HP:0009920
name: Nevus of Ota
def: "A dermal melanocytic hamartoma that presents as bluish hyperpigmentation on the face along the first or second branches of the trigeminal nerve. Nevus of Ota may involve the sclera." [PMID:14673306]
synonym: "Congenital melanosis bulbi" EXACT []
synonym: "Mongolian spot" EXACT obsolete_synonym []
synonym: "Naevus fuscoceruleus ophthalmomaxillaris" EXACT uk_spelling []
synonym: "Nevus fuscoceruleus ophthalmomaxillaris" EXACT []
synonym: "Nevus of Ito" EXACT []
synonym: "Oculodermal melanocytosis" EXACT []
xref: SNOMEDCT_US:254817005
xref: SNOMEDCT_US:414929001
xref: UMLS:C0027961
is_a: HP:0003764 ! Nevus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-02T06:26:59Z

[Term]
id: HP:0009921
name: Duane anomaly
alt_id: HP:0001109
def: "A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction" [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Globe retraction and deviation on adduction" RELATED []
synonym: "Limited eye motility from Duane anomaly" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Limited eye movement from Duane anomaly" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:60318001
xref: UMLS:C0013261
xref: UMLS:C1846464
xref: UMLS:C4072873
is_a: HP:0025068 ! Incomitant strabismus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-02T06:32:41Z

[Term]
id: HP:0009922
name: Vascular remnant arising from the disk
def: "Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth." [https://orcid.org/0000-0002-0736-9199, PMID:23772130]
synonym: "Persistence of the hyaloid artery" EXACT []
synonym: "Persistent hyaloid artery" EXACT []
xref: UMLS:C4024160
is_a: HP:0007968 ! Remnants of the hyaloid vascular system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-02T06:43:07Z

[Term]
id: HP:0009924
name: Aplasia/Hypoplasia involving the nose
def: "Underdevelopment or absence of the nose or parts thereof." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased nasal size" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplasia of the nose" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypotrophic nose" NARROW [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:204519007
xref: SNOMEDCT_US:93278002
xref: UMLS:C0685684
xref: UMLS:C4024159
xref: UMLS:C4280392
is_a: HP:0005105 ! Abnormal nasal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-05T06:44:04Z

[Term]
id: HP:0009926
name: Epiphora
alt_id: HP:0001486
def: "Abnormally increased lacrimation, that is, excessive tearing (watering eye)." [HPO_CONTRIBUTOR:DDD_ncarter, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123, PMID:28003974]
comment: Epiphora or tearing is the presence of a watering eye, which is a common complaint for referrals to oculoplastics clinics for evaluation. The etiology of tearing can be divided into two categories: reflex tearing and reduced tear outflow. Reflex tearing is usually secondary to dry eye, inflammation, allergy or other ocular surface disorders, whereas primary hypersecretion of the lacrimal glands is rare. Reduced tear outflow is due to eyelid malposition, tear pump dysfunction caused by eyelid laxity, or obstruction at any portion of the nasaolacrimal drainage system.
subset: hposlim_core
synonym: "Increased lacrimation" EXACT []
synonym: "Increased tears" EXACT layperson []
synonym: "Tearing" EXACT layperson []
synonym: "Watery eyes" EXACT layperson []
xref: SNOMEDCT_US:193982009
xref: SNOMEDCT_US:418035005
xref: UMLS:C0152227
is_a: HP:0000632 ! Lacrimation abnormality
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-02T10:52:28Z

[Term]
id: HP:0009927
name: Aplasia of the nose
def: "Complete absence of all nasal structures." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Absent nose" EXACT layperson []
synonym: "Arrhinia" EXACT []
synonym: "Failure of development of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Nasal underdevelopment" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:111317000
xref: UMLS:C0265740
xref: UMLS:C4280391
is_a: HP:0009924 ! Aplasia/Hypoplasia involving the nose
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-05T06:44:57Z

[Term]
id: HP:0009928
name: Thick nasal alae
def: "Increase in bulk of the ala nasi." [PMID:19152422]
subset: hposlim_core
synonym: "Ala nasi, thick" EXACT []
synonym: "Thickening of the alae nasi" EXACT []
xref: UMLS:C1844809
is_a: HP:0000429 ! Abnormal morphology of the nasal alae
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-05T06:47:43Z

[Term]
id: HP:0009929
name: Abnormal columella morphology
def: "A structural abnormality of the columella." [https://orcid.org/0000-0002-0736-9199]
comment: The columella is the fleshy external end of the nasal septum.
synonym: "Abnormality of the columella" EXACT []
synonym: "Anomaly of the columella" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the columella" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the columella" NARROW [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4024158
is_a: HP:0010938 ! Abnormal external nose morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-05T06:51:28Z

[Term]
id: HP:0009930
name: Asymmetry of the nares
def: "Asymmetry or size difference between the left and right nostril." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Asymmetry of nostrils" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Crooked nostrils" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Unequal nostril shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Unequal nostril size" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Uneven nostril shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Uneven nostril size" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4024157
is_a: HP:0005288 ! Abnormal nostril morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-05T07:06:20Z

[Term]
id: HP:0009931
name: Enlarged naris
def: "Increased aperture of the nostril." [PMID:19152422]
comment: The nostrils or nares are typically symmetric, wide openings. They should be assessed with the face at rest to avoid the effect of flared alae nasi that occurs with distress. Note that the nares change with age, from rounded in infancy to elongated at a later age.
subset: hposlim_core
synonym: "Broad nostril" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Dilated nares" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Dilated nostril" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Enlarged nares" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Enlarged nostril" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased diameter of nares" EXACT []
synonym: "Increased diameter of nostril" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased width of nares" EXACT []
synonym: "Large nares" EXACT []
synonym: "Naris, broad" EXACT []
synonym: "Naris, enlarged" EXACT []
synonym: "Wide nares" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Wide nostril" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:399353008
xref: UMLS:C0426440
is_a: HP:0005288 ! Abnormal nostril morphology
creation_date: 2009-05-10T10:30:20Z

[Term]
id: HP:0009932
name: Single naris
def: "The presence of only a single nostril." [PMID:19152422]
comment: The single opening may occur in the midline or it can occur on one side, that is, it can be symmetric or asymmetric. Although the columella is invariably absent, this is implicit and does not need to be separately specified.
subset: hposlim_core
synonym: "Mono nostril" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "One nostril" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Single nare" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Single nostril" EXACT layperson []
xref: SNOMEDCT_US:95266003
xref: UMLS:C0685682
is_a: HP:0005288 ! Abnormal nostril morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-10T10:33:56Z

[Term]
id: HP:0009933
name: Narrow naris
def: "Slender, slit-like aperture of the nostril." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Collapsed nostrils" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Naris, narrow" EXACT []
synonym: "Naris, slit-like" EXACT []
synonym: "Narrow nares" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Narrow nostrils" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Slit-like nostrils" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Small nostrils" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thin nares" EXACT []
synonym: "Thin nostrils" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:249336003
xref: SNOMEDCT_US:249339005
xref: UMLS:C0426436
xref: UMLS:C0426439
xref: UMLS:C1849366
xref: UMLS:C4280390
is_a: HP:0005288 ! Abnormal nostril morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-10T10:35:51Z

[Term]
id: HP:0009934
name: Supernumerary naris
def: "The presence of more than two nostrils." [PMID:19152422]
subset: hposlim_core
synonym: "Accessory nares" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Accessory nostril" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Extra nostril" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Supernumerary nares" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Supernumerary nostrils" EXACT []
xref: UMLS:C4021372
is_a: HP:0005288 ! Abnormal nostril morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-10T10:37:41Z

[Term]
id: HP:0009935
name: Aplasia/Hypoplasia of the nasal septum
def: "Absence or underdevelopment of the nasal septum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Ageneis of nasal septum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of nasal septum" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of nasal septum" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4024156
is_a: HP:0000419 ! Abnormal nasal septum morphology
is_a: HP:0009924 ! Aplasia/Hypoplasia involving the nose
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-10T10:40:21Z

[Term]
id: HP:0009936
name: Narrow nasal septum
def: "Abnormally narrow nasal septum." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Decreased width of nasal septum" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Narrow nasal septum" EXACT layperson []
synonym: "Narrow septum of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thin nasal septum" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thin septum of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4024155
is_a: HP:0000419 ! Abnormal nasal septum morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-10T10:46:40Z

[Term]
id: HP:0009937
name: Facial hirsutism
def: "Excess facial hair." [https://orcid.org/0000-0002-0736-9199]
synonym: "Excessive face hair" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1850041
xref: UMLS:C2128203
is_a: HP:0009889 ! Localized hirsutism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-10T10:58:49Z

[Term]
id: HP:0009938
name: Sunken cheeks
def: "Lack or loss of the soft tissues between the zygomata and mandible." [PMID:19125436]
subset: hposlim_core
synonym: "Depressed cheeks" EXACT layperson []
synonym: "Hollow cheeks" EXACT layperson []
synonym: "Sunken cheeks" EXACT layperson []
xref: UMLS:C4024154
is_a: HP:0004426 ! Abnormal cheek morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-10T11:17:18Z

[Term]
id: HP:0009939
name: Mandibular aplasia
def: "Absence of the mandible." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absence of lower jaw" EXACT []
synonym: "Absence of lower jaw bone" EXACT []
synonym: "Absence of lower jaw bones" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Absence of mandible" EXACT []
synonym: "Absent mandible" EXACT []
synonym: "Agenesis of the mandible" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Agnathia" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Aplasia of the lower jaw bone" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of lower jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of mandible" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing lower jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:91896009
xref: SNOMEDCT_US:91922000
xref: UMLS:C0685775
xref: UMLS:C0685776
xref: UMLS:C4021371
is_a: HP:0009118 ! Aplasia/Hypoplasia of the mandible
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-10T11:27:14Z

[Term]
id: HP:0009940
name: Asymmetry of the mandible
def: "Lack of symmetry between the left and right mandible." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Asymmetry of lower jaw" EXACT layperson []
synonym: "Canted lower jaw" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Canted mandible" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Crooked lower jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deviation of lower jaw" EXACT []
synonym: "Deviation of mandible" EXACT []
synonym: "Deviation of the lower jaw" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deviation of the mandible" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Lower jaw shifted to one side" EXACT layperson []
synonym: "Tilted lower jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Tilted mandible" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Uneven lower jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Uneven mandible" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:235082006
xref: UMLS:C0399518
xref: UMLS:C4082201
is_a: HP:0000277 ! Abnormal mandible morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-10T11:28:02Z

[Term]
id: HP:0009941
name: Asymmetry of the mouth
def: "The presence of an asymmetric mouth." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Asymmetry of oral cavity" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Asymmetry of the mouth" EXACT layperson []
synonym: "Canted mouth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Crooked mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Tilted mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Uneven mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4024153
is_a: HP:0011338 ! Abnormality of mouth shape
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-05-10T11:30:31Z

[Term]
id: HP:0009942
name: Duplication of thumb phalanx
alt_id: HP:0009661
def: "Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0009-0006-4530-3154]
synonym: "Complete/partial duplication of phalanges of the thumb" EXACT []
synonym: "Duplicated thumb" RELATED []
synonym: "Duplicated thumbs" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Duplication of phalanx of thumb" EXACT []
xref: UMLS:C4021370
is_a: HP:0009602 ! Abnormality of thumb phalanx
is_a: HP:0009997 ! Duplication of phalanx of hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-15T12:51:02Z

[Term]
id: HP:0009943
name: Complete duplication of thumb phalanx
alt_id: HP:0002801
alt_id: HP:0004067
def: "A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism." [https://orcid.org/0000-0002-0736-9199]
synonym: "Complete duplication of the phalanges of the thumb" EXACT []
synonym: "Complete duplication of thumb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Digitalization of thumb" EXACT []
synonym: "Digitalization of thumbs" EXACT []
xref: UMLS:C3554724
is_a: HP:0009942 ! Duplication of thumb phalanx
is_a: HP:0009998 ! Complete duplication of phalanx of hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-15T12:51:35Z

[Term]
id: HP:0009944
name: Partial duplication of thumb phalanx
alt_id: HP:0001244
alt_id: HP:0004070
def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bifid thumb" EXACT []
synonym: "Notching of thumb phalanges" EXACT []
synonym: "Partial duplication of the phalanges of the thumb" EXACT []
synonym: "Partial duplication of the thumb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4082168
is_a: HP:0009942 ! Duplication of thumb phalanx
is_a: HP:0009999 ! Partial duplication of the phalanx of hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-15T12:51:57Z

[Term]
id: HP:0009945
name: Duplication of phalanx of 2nd finger
def: "This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [https://orcid.org/0000-0002-0736-9199]
synonym: "Duplication of the bones of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial/complete duplication of phalanges of the 2nd finger" EXACT []
xref: UMLS:C4021369
is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger
is_a: HP:0009946 ! Polydactyly affecting the 2nd finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-15T01:00:37Z

[Term]
id: HP:0009946
name: Polydactyly affecting the 2nd finger
synonym: "Extra index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024152
is_a: HP:0004100 ! Abnormal 2nd finger morphology
is_a: HP:0006159 ! Mesoaxial hand polydactyly
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-15T01:01:48Z

[Term]
id: HP:0009947
name: Duplication of the proximal phalanx of the 2nd finger
def: "Partial or complete duplication of the second proximal phalanx of hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Duplication of the proximal bone of the index finger" EXACT []
synonym: "Partial/complete duplication of the proximal phalanx of the 2nd finger" EXACT []
xref: UMLS:C4021368
is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger
is_a: HP:0009945 ! Duplication of phalanx of 2nd finger
is_a: HP:0010006 ! Duplication of the proximal phalanx of hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-15T01:58:58Z

[Term]
id: HP:0009948
name: Duplication of the distal phalanx of the 2nd finger
alt_id: HP:0004144
def: "Partial or complete duplication of the distal phalanx of index finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Partial/complete duplication of the distal phalanx of the 2nd finger" EXACT []
synonym: "Partial/complete duplication of the outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021367
is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger
is_a: HP:0009883 ! Duplication of the distal phalanx of hand
is_a: HP:0009945 ! Duplication of phalanx of 2nd finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-15T01:58:58Z

[Term]
id: HP:0009949
name: Duplication of the middle phalanx of the 2nd finger
def: "Partial or complete duplication of the middle phalanx of index finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Partial/complete duplication of the middle bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial/complete duplication of the middle phalanx of the 2nd finger" EXACT []
xref: UMLS:C4021366
is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger
is_a: HP:0009945 ! Duplication of phalanx of 2nd finger
is_a: HP:0010008 ! Duplication of the middle phalanx of hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-15T01:58:58Z

[Term]
id: HP:0009950
name: Complete duplication of the distal phalanx of the 2nd finger
def: "Complete duplication of the distal phalanx of index finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Complete duplication of the outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024151
is_a: HP:0009948 ! Duplication of the distal phalanx of the 2nd finger
is_a: HP:0009957 ! Complete duplication of the phalanges of the 2nd finger
is_a: HP:0010001 ! Complete duplication of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-15T02:03:28Z

[Term]
id: HP:0009951
name: Partial duplication of the distal phalanx of the 2nd finger
def: "Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx." [https://orcid.org/0009-0006-4530-3154, PMID:29864040]
synonym: "Bifid terminal phalanx of the 2nd finger" EXACT []
synonym: "Notched outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial duplication of the outermost bone of the 2nd finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021365
is_a: HP:0009948 ! Duplication of the distal phalanx of the 2nd finger
is_a: HP:0009956 ! Partial duplication of the phalanges of the 2nd finger
is_a: HP:0010004 ! Partial duplication of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-15T02:03:28Z

[Term]
id: HP:0009952
name: Complete duplication of the middle phalanx of the 2nd finger
def: "Complete duplication of the middle phalanx of index finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Complete duplication of the middle bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024150
is_a: HP:0009949 ! Duplication of the middle phalanx of the 2nd finger
is_a: HP:0009957 ! Complete duplication of the phalanges of the 2nd finger
is_a: HP:0010002 ! Complete duplication of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-15T02:05:27Z

[Term]
id: HP:0009953
name: Partial duplication of the middle phalanx of the 2nd finger
def: "Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx." [https://orcid.org/0009-0006-4530-3154]
synonym: "Partial duplication of the middle bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024149
is_a: HP:0009949 ! Duplication of the middle phalanx of the 2nd finger
is_a: HP:0009956 ! Partial duplication of the phalanges of the 2nd finger
is_a: HP:0010005 ! Partial duplication of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-15T02:05:27Z

[Term]
id: HP:0009954
name: Complete duplication of the proximal phalanx of the 2nd finger
def: "Complete duplication of the second proximal phalanx of hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Complete duplication of the proximal bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024148
is_a: HP:0009947 ! Duplication of the proximal phalanx of the 2nd finger
is_a: HP:0009957 ! Complete duplication of the phalanges of the 2nd finger
is_a: HP:0010000 ! Complete duplication of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-15T02:06:11Z

[Term]
id: HP:0009955
name: Partial duplication of the proximal phalanx of the 2nd finger
def: "Partial duplication of the second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx." [https://orcid.org/0009-0006-4530-3154]
synonym: "Partial duplication of the proximal bones of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024147
is_a: HP:0009947 ! Duplication of the proximal phalanx of the 2nd finger
is_a: HP:0009956 ! Partial duplication of the phalanges of the 2nd finger
is_a: HP:0010003 ! Partial duplication of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-15T02:06:11Z

[Term]
id: HP:0009956
name: Partial duplication of the phalanges of the 2nd finger
def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Partial duplication of the bones of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024146
is_a: HP:0009945 ! Duplication of phalanx of 2nd finger
is_a: HP:0009999 ! Partial duplication of the phalanx of hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-15T02:07:41Z

[Term]
id: HP:0009957
name: Complete duplication of the phalanges of the 2nd finger
def: "A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism." [https://orcid.org/0000-0002-0736-9199]
synonym: "Complete duplication of the bones of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024145
is_a: HP:0009945 ! Duplication of phalanx of 2nd finger
is_a: HP:0009998 ! Complete duplication of phalanx of hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-15T02:08:02Z

[Term]
id: HP:0009958
name: Polydactyly affecting the 3rd finger
synonym: "Extra middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024144
is_a: HP:0004150 ! Abnormal 3rd finger morphology
is_a: HP:0006159 ! Mesoaxial hand polydactyly
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T09:54:29Z

[Term]
id: HP:0009959
name: Duplication of phalanx of 3rd finger
def: "This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [https://orcid.org/0009-0006-4530-3154]
synonym: "Duplication of middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial/complete duplication of phalanges of the 3rd finger" EXACT []
xref: UMLS:C4021364
is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology
is_a: HP:0009958 ! Polydactyly affecting the 3rd finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T09:54:51Z

[Term]
id: HP:0009960
name: Complete duplication of the phalanges of the 3rd finger
def: "A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism." [https://orcid.org/0000-0002-0736-9199]
synonym: "Complete duplication of middle finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024143
is_a: HP:0009959 ! Duplication of phalanx of 3rd finger
is_a: HP:0009998 ! Complete duplication of phalanx of hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T12:46:36Z

[Term]
id: HP:0009961
name: Partial duplication of the phalanges of the 3rd finger
def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Partial duplication of middle finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024142
is_a: HP:0009959 ! Duplication of phalanx of 3rd finger
is_a: HP:0009999 ! Partial duplication of the phalanx of hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T12:46:36Z

[Term]
id: HP:0009962
name: Duplication of the distal phalanx of the 3rd finger
def: "Partial or complete duplication of the distal phalanx of middle finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Partial/complete duplication of the distal phalanx of the 3rd finger" EXACT []
synonym: "Partial/complete duplication of the outermost bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021363
is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger
is_a: HP:0009883 ! Duplication of the distal phalanx of hand
is_a: HP:0009959 ! Duplication of phalanx of 3rd finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T12:46:36Z

[Term]
id: HP:0009963
name: Duplication of the middle phalanx of the 3rd finger
alt_id: HP:0004157
alt_id: HP:0004174
def: "Partial or complete duplication of the middle phalanx of middle finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Duplication of the middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial/complete duplication of the middle phalanx of the 3rd finger" EXACT []
xref: UMLS:C4021362
is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger
is_a: HP:0009959 ! Duplication of phalanx of 3rd finger
is_a: HP:0010008 ! Duplication of the middle phalanx of hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T12:46:36Z

[Term]
id: HP:0009964
name: Duplication of the proximal phalanx of the 3rd finger
def: "Partial or complete duplication of the third proximal phalanx of hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Duplication of the proximal bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial/complete duplication of the proximal phalanx of the 3rd finger" EXACT []
xref: UMLS:C4021361
is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger
is_a: HP:0009959 ! Duplication of phalanx of 3rd finger
is_a: HP:0010006 ! Duplication of the proximal phalanx of hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T12:46:36Z

[Term]
id: HP:0009965
name: Complete duplication of the distal phalanx of the 3rd finger
def: "Complete duplication of the distal phalanx of middle finger" [https://orcid.org/0000-0002-0736-9199]
synonym: "Complete duplication of the outermost bone of the 3rd finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024141
is_a: HP:0009960 ! Complete duplication of the phalanges of the 3rd finger
is_a: HP:0009962 ! Duplication of the distal phalanx of the 3rd finger
is_a: HP:0010001 ! Complete duplication of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T12:49:35Z

[Term]
id: HP:0009966
name: Complete duplication of the middle phalanx of the 3rd finger
def: "Complete duplication of the middle phalanx of middle finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Complete duplication of the middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024140
is_a: HP:0009960 ! Complete duplication of the phalanges of the 3rd finger
is_a: HP:0009963 ! Duplication of the middle phalanx of the 3rd finger
is_a: HP:0010002 ! Complete duplication of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T12:49:35Z

[Term]
id: HP:0009967
name: Complete duplication of the proximal phalanx of the 3rd finger
def: "Complete duplication of the third proximal phalanx of hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Complete duplication of the innermost bone of the 3rd finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024139
is_a: HP:0009960 ! Complete duplication of the phalanges of the 3rd finger
is_a: HP:0009964 ! Duplication of the proximal phalanx of the 3rd finger
is_a: HP:0010000 ! Complete duplication of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T12:49:35Z

[Term]
id: HP:0009968
name: Partial duplication of the distal phalanx of the 3rd finger
def: "Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx." [https://orcid.org/0009-0006-4530-3154]
synonym: "Bifid terminal phalanx of the 3rd finger" EXACT []
synonym: "Notched outermost bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial duplication of the outermost bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021360
is_a: HP:0009961 ! Partial duplication of the phalanges of the 3rd finger
is_a: HP:0009962 ! Duplication of the distal phalanx of the 3rd finger
is_a: HP:0010004 ! Partial duplication of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T12:49:59Z

[Term]
id: HP:0009969
name: Partial duplication of the middle phalanx of the 3rd finger
def: "Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx." [https://orcid.org/0009-0006-4530-3154]
synonym: "Partial duplication of the middle bone of the 3rd finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024138
is_a: HP:0009961 ! Partial duplication of the phalanges of the 3rd finger
is_a: HP:0009963 ! Duplication of the middle phalanx of the 3rd finger
is_a: HP:0010005 ! Partial duplication of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T12:49:59Z

[Term]
id: HP:0009970
name: Partial duplication of the proximal phalanx of the 3rd finger
def: "Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx." [https://orcid.org/0009-0006-4530-3154]
synonym: "Partial duplication of the proximal bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024137
is_a: HP:0009961 ! Partial duplication of the phalanges of the 3rd finger
is_a: HP:0009964 ! Duplication of the proximal phalanx of the 3rd finger
is_a: HP:0010003 ! Partial duplication of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T12:49:59Z

[Term]
id: HP:0009971
name: Polydactyly affecting the 4th finger
synonym: "Extra ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024136
is_a: HP:0004188 ! Abnormal 4th finger morphology
is_a: HP:0006159 ! Mesoaxial hand polydactyly
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T02:19:06Z

[Term]
id: HP:0009972
name: Duplication of phalanx of 4th finger
def: "This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [https://orcid.org/0009-0006-4530-3154]
synonym: "Duplication of bones of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial/complete duplication of phalanges of the 4th finger" EXACT []
xref: UMLS:C4021359
is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology
is_a: HP:0009971 ! Polydactyly affecting the 4th finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T02:19:28Z

[Term]
id: HP:0009973
name: Complete duplication of the phalanges of the 4th finger
def: "A complete duplication affecting one or more of the phalanges of the 4th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism." [https://orcid.org/0000-0002-0736-9199]
synonym: "Complete duplication of the bones of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024135
is_a: HP:0009972 ! Duplication of phalanx of 4th finger
is_a: HP:0009998 ! Complete duplication of phalanx of hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T02:20:08Z

[Term]
id: HP:0009974
name: Partial duplication of the phalanges of the 4th finger
def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 4th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Partial duplication of the bones of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024134
is_a: HP:0009972 ! Duplication of phalanx of 4th finger
is_a: HP:0009999 ! Partial duplication of the phalanx of hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T02:20:08Z

[Term]
id: HP:0009975
name: Duplication of the distal phalanx of the 4th finger
def: "Partial or complete duplication of the distal phalanx of ring finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Partial/complete duplication of the distal phalanx of the 4th finger" EXACT []
synonym: "Partial/complete duplication of the outermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021358
is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger
is_a: HP:0009883 ! Duplication of the distal phalanx of hand
is_a: HP:0009972 ! Duplication of phalanx of 4th finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T02:20:08Z

[Term]
id: HP:0009976
name: Duplication of the middle phalanx of the 4th finger
def: "Partial or complete duplication of the middle phalanx of ring finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Partial/complete duplication of the middle bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial/complete duplication of the middle phalanx of the 4th finger" EXACT []
xref: UMLS:C4021357
is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger
is_a: HP:0009972 ! Duplication of phalanx of 4th finger
is_a: HP:0010008 ! Duplication of the middle phalanx of hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T02:20:08Z

[Term]
id: HP:0009977
name: Duplication of the proximal phalanx of the 4th finger
def: "Partial or complete duplication of the fourth proximal phalanx of hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Duplication of the proximal bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial/complete duplication of the proximal phalanx of the 4th finger" EXACT []
xref: UMLS:C4021356
is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger
is_a: HP:0009972 ! Duplication of phalanx of 4th finger
is_a: HP:0010006 ! Duplication of the proximal phalanx of hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T02:20:08Z

[Term]
id: HP:0009978
name: Complete duplication of the distal phalanx of the 4th finger
def: "Complete duplication of the distal phalanx of ring finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Complete duplication of the outermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024133
is_a: HP:0009973 ! Complete duplication of the phalanges of the 4th finger
is_a: HP:0009975 ! Duplication of the distal phalanx of the 4th finger
is_a: HP:0010001 ! Complete duplication of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T02:20:23Z

[Term]
id: HP:0009979
name: Complete duplication of the middle phalanx of the 4th finger
def: "Complete duplication of the middle phalanx of ring finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Complete duplication of the middle bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024132
is_a: HP:0009973 ! Complete duplication of the phalanges of the 4th finger
is_a: HP:0009976 ! Duplication of the middle phalanx of the 4th finger
is_a: HP:0010002 ! Complete duplication of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T02:20:23Z

[Term]
id: HP:0009980
name: Complete duplication of the proximal phalanx of the 4th finger
def: "Complete duplication of the fourth proximal phalanx of hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Complete duplication of the proximal bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024131
is_a: HP:0009973 ! Complete duplication of the phalanges of the 4th finger
is_a: HP:0009977 ! Duplication of the proximal phalanx of the 4th finger
is_a: HP:0010000 ! Complete duplication of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T02:20:23Z

[Term]
id: HP:0009981
name: Partial duplication of the distal phalanx of the 4th finger
def: "Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx." [https://orcid.org/0009-0006-4530-3154]
synonym: "Bifid terminal phalanx of the 4th finger" EXACT []
synonym: "Notched outermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial duplication of the outermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021355
is_a: HP:0009974 ! Partial duplication of the phalanges of the 4th finger
is_a: HP:0009975 ! Duplication of the distal phalanx of the 4th finger
is_a: HP:0010004 ! Partial duplication of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T02:20:37Z

[Term]
id: HP:0009982
name: Partial duplication of the middle phalanx of the 4th finger
def: "Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx." [https://orcid.org/0009-0006-4530-3154]
synonym: "Partial duplication of the middle bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024130
is_a: HP:0009974 ! Partial duplication of the phalanges of the 4th finger
is_a: HP:0009976 ! Duplication of the middle phalanx of the 4th finger
is_a: HP:0010005 ! Partial duplication of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T02:20:37Z

[Term]
id: HP:0009983
name: Partial duplication of the proximal phalanx of the 4th finger
def: "Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx." [https://orcid.org/0009-0006-4530-3154]
synonym: "Partial duplication of the innermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024129
is_a: HP:0009974 ! Partial duplication of the phalanges of the 4th finger
is_a: HP:0009977 ! Duplication of the proximal phalanx of the 4th finger
is_a: HP:0010003 ! Partial duplication of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T02:20:37Z

[Term]
id: HP:0009985
name: Duplication of phalanx of 5th finger
def: "This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [https://orcid.org/0009-0006-4530-3154]
synonym: "Partial/complete duplication of little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial/complete duplication of phalanges of the 5th finger" EXACT []
synonym: "Partial/complete duplication of pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial/complete duplication of pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021354
is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology
is_a: HP:0009997 ! Duplication of phalanx of hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T02:23:38Z

[Term]
id: HP:0009986
name: Complete duplication of the phalanges of the 5th finger
def: "A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism." [https://orcid.org/0000-0002-0736-9199]
synonym: "Complete duplication of the little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Complete duplication of the pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Complete duplication of the pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024128
is_a: HP:0009985 ! Duplication of phalanx of 5th finger
is_a: HP:0009998 ! Complete duplication of phalanx of hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T02:24:20Z

[Term]
id: HP:0009987
name: Partial duplication of the phalanges of the 5th finger
def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Partial duplication of the little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial duplication of the pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial duplication of the pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024127
is_a: HP:0009985 ! Duplication of phalanx of 5th finger
is_a: HP:0009999 ! Partial duplication of the phalanx of hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T02:24:20Z

[Term]
id: HP:0009988
name: Duplication of the distal phalanx of the 5th finger
def: "Partial or complete duplication of the distal phalanx of little finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Duplication of the outermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Duplication of the outermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Duplication of the outermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial/complete duplication of the distal phalanx of the 5th finger" EXACT []
xref: UMLS:C4021353
is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger
is_a: HP:0009883 ! Duplication of the distal phalanx of hand
is_a: HP:0009985 ! Duplication of phalanx of 5th finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T02:24:20Z

[Term]
id: HP:0009989
name: Duplication of the middle phalanx of the 5th finger
def: "Partial or complete duplication of the fifth middle phalanx of hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Duplication of the middle little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Duplication of the middle pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Duplication of the middle pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial/complete duplication of the middle phalanx of the 5th finger" EXACT []
xref: UMLS:C4021352
is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger
is_a: HP:0009985 ! Duplication of phalanx of 5th finger
is_a: HP:0010008 ! Duplication of the middle phalanx of hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T02:24:20Z

[Term]
id: HP:0009990
name: Duplication of the proximal phalanx of the 5th finger
def: "Partial or complete duplication of the fifth proximal phalanx of hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Duplication of the innermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Duplication of the innermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Duplication of the innermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial/complete duplication of the proximal phalanx of the 5th finger" EXACT []
xref: UMLS:C4021351
is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger
is_a: HP:0009985 ! Duplication of phalanx of 5th finger
is_a: HP:0010006 ! Duplication of the proximal phalanx of hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T02:24:20Z

[Term]
id: HP:0009991
name: Complete duplication of the distal phalanx of the 5th finger
def: "Complete duplication of the distal phalanx of little finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Complete duplication of the outermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Complete duplication of the outermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Complete duplication of the outermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024126
is_a: HP:0009986 ! Complete duplication of the phalanges of the 5th finger
is_a: HP:0009988 ! Duplication of the distal phalanx of the 5th finger
is_a: HP:0010001 ! Complete duplication of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T02:24:33Z

[Term]
id: HP:0009992
name: Complete duplication of the middle phalanx of the 5th finger
def: "Complete duplication of the fifth middle phalanx of hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Complete duplication of the middle little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Complete duplication of the middle pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Complete duplication of the middle pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024125
is_a: HP:0009986 ! Complete duplication of the phalanges of the 5th finger
is_a: HP:0009989 ! Duplication of the middle phalanx of the 5th finger
is_a: HP:0010002 ! Complete duplication of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T02:24:33Z

[Term]
id: HP:0009993
name: Complete duplication of the proximal phalanx of the 5th finger
def: "Complete duplication of the fifth proximal phalanx of hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Complete duplication of the innermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Complete duplication of the innermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Complete duplication of the innermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024124
is_a: HP:0009986 ! Complete duplication of the phalanges of the 5th finger
is_a: HP:0009990 ! Duplication of the proximal phalanx of the 5th finger
is_a: HP:0010000 ! Complete duplication of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T02:24:33Z

[Term]
id: HP:0009994
name: Partial duplication of the distal phalanx of the 5th finger
def: "Partial duplication of the distal phalanx of little finger, seen on x-rays as a broad and/or bifid phalanx." [https://orcid.org/0009-0006-4530-3154]
synonym: "Bifid terminal phalanx of the 5th finger" EXACT []
synonym: "Notched outermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial duplication of outermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial duplication of outermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial duplication of outermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021350
is_a: HP:0009987 ! Partial duplication of the phalanges of the 5th finger
is_a: HP:0009988 ! Duplication of the distal phalanx of the 5th finger
is_a: HP:0010004 ! Partial duplication of the distal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T02:24:47Z

[Term]
id: HP:0009995
name: Partial duplication of the middle phalanx of the 5th finger
def: "Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx." [https://orcid.org/0009-0006-4530-3154]
synonym: "Partial duplication of the middle little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial duplication of the middle pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial duplication of the middle pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024123
is_a: HP:0009987 ! Partial duplication of the phalanges of the 5th finger
is_a: HP:0009989 ! Duplication of the middle phalanx of the 5th finger
is_a: HP:0010005 ! Partial duplication of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T02:24:47Z

[Term]
id: HP:0009996
name: Partial duplication of the proximal phalanx of the 5th finger
def: "Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx." [https://orcid.org/0009-0006-4530-3154]
synonym: "Partial duplication of the innermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial duplication of the innermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial duplication of the innermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024122
is_a: HP:0009987 ! Partial duplication of the phalanges of the 5th finger
is_a: HP:0009990 ! Duplication of the proximal phalanx of the 5th finger
is_a: HP:0010003 ! Partial duplication of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T02:24:47Z

[Term]
id: HP:0009997
name: Duplication of phalanx of hand
alt_id: HP:0009143
def: "This term applies if one or more of the phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [https://orcid.org/0009-0006-4530-3154]
synonym: "Duplication of finger bones" EXACT layperson []
xref: UMLS:C4021349
is_a: HP:0004275 ! Duplication of hand bones
is_a: HP:0005918 ! Abnormal finger phalanx morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T02:28:25Z

[Term]
id: HP:0009998
name: Complete duplication of phalanx of hand
def: "A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism." [https://orcid.org/0000-0002-0736-9199]
synonym: "Complete duplication of hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024121
is_a: HP:0009997 ! Duplication of phalanx of hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T02:30:16Z

[Term]
id: HP:0009999
name: Partial duplication of the phalanx of hand
def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Partial duplication of hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024120
is_a: HP:0009997 ! Duplication of phalanx of hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T02:30:35Z

[Term]
id: HP:0010000
name: Complete duplication of the proximal phalanges of the hand
def: "A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism." [https://orcid.org/0000-0002-0736-9199]
synonym: "Complete duplication of the innermost bones of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024119
is_a: HP:0009998 ! Complete duplication of phalanx of hand
is_a: HP:0010006 ! Duplication of the proximal phalanx of hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T03:55:02Z

[Term]
id: HP:0010001
name: Complete duplication of the distal phalanges of the hand
def: "A complete duplication affecting one or more of the distal phalanges of the hand." [https://orcid.org/0009-0006-4530-3154]
comment: As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, is actually a different entity called a pseudoepiphysis (see corresponding terms), sometimes also referred to as hyperphalangism.
synonym: "Complete duplication of the outermost bones of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024118
is_a: HP:0009883 ! Duplication of the distal phalanx of hand
is_a: HP:0009998 ! Complete duplication of phalanx of hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T03:55:02Z

[Term]
id: HP:0010002
name: Complete duplication of the middle phalanges of the hand
def: "A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism." [https://orcid.org/0009-0006-4530-3154]
synonym: "Complete duplication of the middle bones of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024117
is_a: HP:0009998 ! Complete duplication of phalanx of hand
is_a: HP:0010008 ! Duplication of the middle phalanx of hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T03:55:02Z

[Term]
id: HP:0010003
name: Partial duplication of the proximal phalanges of the hand
def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Partial duplication of the innermost bones of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024116
is_a: HP:0009999 ! Partial duplication of the phalanx of hand
is_a: HP:0010006 ! Duplication of the proximal phalanx of hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T03:55:29Z

[Term]
id: HP:0010004
name: Partial duplication of the distal phalanges of the hand
alt_id: HP:0006196
def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bifid terminal phalanges of the hand" EXACT []
synonym: "Partial duplication of the outermost bone of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021348
is_a: HP:0009883 ! Duplication of the distal phalanx of hand
is_a: HP:0009999 ! Partial duplication of the phalanx of hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T03:55:29Z

[Term]
id: HP:0010005
name: Partial duplication of the middle phalanges of the hand
def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Partial duplication of the middle bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024115
is_a: HP:0009999 ! Partial duplication of the phalanx of hand
is_a: HP:0010008 ! Duplication of the middle phalanx of hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T03:55:29Z

[Term]
id: HP:0010006
name: Duplication of the proximal phalanx of hand
def: "This term applies if one or more of the proximal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [https://orcid.org/0009-0006-4530-3154]
synonym: "Duplication of the innermost bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial/complete duplication of the proximal phalanges of the hand" EXACT []
xref: UMLS:C4021347
is_a: HP:0009997 ! Duplication of phalanx of hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T05:29:46Z

[Term]
id: HP:0010008
name: Duplication of the middle phalanx of hand
def: "This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [https://orcid.org/0009-0006-4530-3154]
synonym: "Duplication of the middle bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial/complete duplication of the middle phalanges of the hand" EXACT []
xref: UMLS:C4021346
is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand
is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand
is_a: HP:0009997 ! Duplication of phalanx of hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-26T05:29:46Z

[Term]
id: HP:0010009
name: Abnormal 1st metacarpal morphology
def: "A structural anomaly of the first metacarpal." [https://orcid.org/0000-0002-0736-9199]
comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits.
synonym: "Abnormality of the 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the 1st metacarpal" EXACT []
xref: UMLS:C4024114
is_a: HP:0005916 ! Abnormal metacarpal morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T03:35:21Z

[Term]
id: HP:0010010
name: Abnormal 2nd metacarpal morphology
def: "Any abnormality of the second metacarpal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the 2nd long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the 2nd metacarpal" EXACT []
xref: UMLS:C4024113
is_a: HP:0005916 ! Abnormal metacarpal morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T03:35:21Z

[Term]
id: HP:0010011
name: Abnormal 3rd metacarpal morphology
def: "Any abnormality of the third metacarpal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the 3rd long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the 3rd metacarpal" EXACT []
xref: UMLS:C4024112
is_a: HP:0005916 ! Abnormal metacarpal morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T03:35:21Z

[Term]
id: HP:0010012
name: Abnormal 4th metacarpal morphology
def: "Any abnormality of the fourth metacarpal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the 4th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the 4th metacarpal" EXACT []
xref: UMLS:C4024111
is_a: HP:0005916 ! Abnormal metacarpal morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T03:35:21Z

[Term]
id: HP:0010013
name: Abnormal 5th metacarpal morphology
def: "Any abnormality of the fifth metacarpal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the 5th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the 5th metacarpal" EXACT []
xref: UMLS:C4024110
is_a: HP:0005916 ! Abnormal metacarpal morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T03:35:21Z

[Term]
id: HP:0010014
name: Abnormality of the epiphysis of the 1st metacarpal
def: "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the end part of the 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024109
is_a: HP:0005913 ! Abnormal metacarpal epiphysis morphology
is_a: HP:0010009 ! Abnormal 1st metacarpal morphology
is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T03:43:11Z

[Term]
id: HP:0010015
name: Absent epiphysis of the 1st metacarpal
synonym: "Absent end part of the 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024108
is_a: HP:0009196 ! Absent metacarpal epiphyses
is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal
is_a: HP:0010268 ! Absent epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:02:50Z

[Term]
id: HP:0010016
name: Bracket epiphysis of the 1st metacarpal
def: "An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate." [https://orcid.org/0000-0002-0736-9199, PMID:24432108]
synonym: "Bracket shaped end part of 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024107
is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal
is_a: HP:0010269 ! Bracket epiphyses of the proximal phalanges of the hand
is_a: HP:0200050 ! Bracket metacarpal epiphyses
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:02:50Z

[Term]
id: HP:0010017
name: Cone-shaped epiphysis of the 1st metacarpal
def: "A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cone-shaped end part of the 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024106
is_a: HP:0006059 ! Cone-shaped metacarpal epiphyses
is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal
is_a: HP:0010270 ! Cone-shaped epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:02:50Z

[Term]
id: HP:0010018
name: Enlarged epiphysis of the 1st metacarpal
def: "Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlarged end part of the 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024105
is_a: HP:0006134 ! Enlarged metacarpal epiphyses
is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal
is_a: HP:0010271 ! Enlarged epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:02:50Z

[Term]
id: HP:0010019
name: Fragmentation of the epiphysis of the 1st metacarpal
def: "Epiphysis of the 1st metacarpal having multiple bony fragments." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fragmentation of the end part of the 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024104
is_a: HP:0009189 ! Fragmentation of the metacarpal epiphyses
is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal
is_a: HP:0010272 ! Fragmentation of the epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:02:50Z

[Term]
id: HP:0010020
name: Irregular epiphysis of the 1st metacarpal
def: "Uneven radiographic opacity of the epiphysis of the 1st metacarpal." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular end part of the 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024103
is_a: HP:0009190 ! Irregular epiphyses of the metacarpals
is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal
is_a: HP:0010273 ! Irregular epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:02:50Z

[Term]
id: HP:0010021
name: Ivory epiphysis of the 1st metacarpal
def: "The epiphysis of the 1st metacarpal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased bone density of end part of the 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024102
is_a: HP:0009191 ! Ivory epiphyses of the metacarpals
is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal
is_a: HP:0010274 ! Ivory epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:02:50Z

[Term]
id: HP:0010022
name: Pseudoepiphysis of the 1st metacarpal
def: "The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal." [https://orcid.org/0000-0002-0736-9199]
comment: This feature can be seen for example in Holt-Oram Syndrome.
xref: UMLS:C4024101
is_a: HP:0009193 ! Metacarpal pseudoepiphysis
is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal
is_a: HP:0010275 ! Pseudoepiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:02:50Z

[Term]
id: HP:0010023
name: Small epiphysis of the 1st metacarpal
def: "Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small end part of the 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024100
is_a: HP:0009194 ! Small epiphyses of the metacarpals
is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal
is_a: HP:0010276 ! Small epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:02:50Z

[Term]
id: HP:0010024
name: Epiphyseal stippling of the first metacarpal
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Speckled calcifications in the end part of the first long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Stippling of the epiphysis of the 1st metacarpal" EXACT []
xref: UMLS:C4021345
is_a: HP:0009195 ! Epiphyseal stippling of the metacarpals
is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal
is_a: HP:0010277 ! Stippling of the epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:02:50Z

[Term]
id: HP:0010025
name: Triangular epiphysis of the 1st metacarpal
synonym: "Triangular end part of the 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024099
is_a: HP:0009171 ! Triangular epiphyses of the metacarpals
is_a: HP:0009696 ! Triangular epiphyses of the thumb
is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:02:50Z

[Term]
id: HP:0010026
name: Aplasia/Hypoplasia of the 1st metacarpal
def: "Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024098
is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones
is_a: HP:0009658 ! Aplasia/Hypoplasia of the phalanges of the thumb
is_a: HP:0010009 ! Abnormal 1st metacarpal morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:24:30Z

[Term]
id: HP:0010027
name: Broad 1st metacarpal
def: "Increased width of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0000-0002-0736-9199]
synonym: "Wide 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024097
is_a: HP:0001230 ! Broad metacarpals
is_a: HP:0009852 ! Broad proximal phalanges of the hand
is_a: HP:0010009 ! Abnormal 1st metacarpal morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:24:30Z

[Term]
id: HP:0010028
name: Bullet-shaped 1st metacarpal
def: "The presence of short and wide 1st metacarpal which tapers distally (\"bullet shaped\")." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024096
is_a: HP:0010009 ! Abnormal 1st metacarpal morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:24:30Z

[Term]
id: HP:0010029
name: Curved 1st metacarpal
def: "A deviation from the normal straight shape of the first metacarpal." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curved 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024095
is_a: HP:0010009 ! Abnormal 1st metacarpal morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:24:30Z

[Term]
id: HP:0010030
name: Osteolytic defects of the 1st metacarpal
def: "Dissolution or degeneration of bone tissue of the 1st metacarpal." [https://orcid.org/0000-0002-0736-9199]
comment: Osteolytic lesions are visible on radiography as demarcated areas of radiolucency ('darkness').
xref: UMLS:C4024094
is_a: HP:0001504 ! Metacarpal osteolysis
is_a: HP:0010009 ! Abnormal 1st metacarpal morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:24:30Z

[Term]
id: HP:0010031
name: Patchy sclerosis of the 1st metacarpal
def: "Uneven increase in bone density within the 1st metacarpal." [https://orcid.org/0000-0002-0736-9199]
synonym: "Uneven increase in bone density in 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024093
is_a: HP:0010009 ! Abnormal 1st metacarpal morphology
is_a: HP:0100914 ! Sclerosis of the 1st metacarpal
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:24:30Z

[Term]
id: HP:0010033
name: Triangular shaped 1st metacarpal
def: "This term applies to a triangular shaped 1st metacarpal." [https://orcid.org/0000-0002-0736-9199]
comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx (in this case metacarpal, see explanation above).
synonym: "Triangular shaped 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024092
is_a: HP:0010009 ! Abnormal 1st metacarpal morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:24:30Z

[Term]
id: HP:0010034
name: Short 1st metacarpal
alt_id: HP:0001190
alt_id: HP:0001499
alt_id: HP:0005898
alt_id: HP:0006141
def: "A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand." [https://orcid.org/0000-0002-0736-9199]
comment: In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. {xref="https://orcid.org/0000-0002-0736-9199"}
subset: hposlim_core
synonym: "First metacarpal hypoplasia" EXACT []
synonym: "First metacarpals hypoplastic" EXACT []
synonym: "Hypoplastic 1st metacarpal" EXACT []
synonym: "Short first metacarpal" EXACT []
synonym: "Short first metacarpals" EXACT []
synonym: "Shortened 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1849311
is_a: HP:0009660 ! Short phalanx of the thumb
is_a: HP:0010026 ! Aplasia/Hypoplasia of the 1st metacarpal
is_a: HP:0010049 ! Short metacarpal
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:24:50Z

[Term]
id: HP:0010035
name: Aplasia of the 1st metacarpal
alt_id: HP:0006027
def: "Absent first metacarpal (long bone) of the hand." [https://orcid.org/0000-0002-0736-9199]
comment: In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. {xref="https://orcid.org/0000-0002-0736-9199"}
synonym: "Absent 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent first metacarpal" EXACT []
xref: UMLS:C1838610
is_a: HP:0009659 ! Partial absence of thumb
is_a: HP:0010026 ! Aplasia/Hypoplasia of the 1st metacarpal
is_a: HP:0010048 ! Aplasia of metacarpal bones
is_a: HP:0010242 ! Aplasia of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:25:14Z

[Term]
id: HP:0010036
name: Aplasia/Hypoplasia of the 2nd metacarpal
def: "Aplasia or Hypoplasia affecting the 2nd metacarpal." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small 2nd long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped 2nd long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024091
is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones
is_a: HP:0010010 ! Abnormal 2nd metacarpal morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:34:44Z

[Term]
id: HP:0010037
name: Aplasia of the 2nd metacarpal
def: "Absence of the second long bone of the hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent 2nd long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024090
is_a: HP:0010036 ! Aplasia/Hypoplasia of the 2nd metacarpal
is_a: HP:0010048 ! Aplasia of metacarpal bones
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:35:04Z

[Term]
id: HP:0010038
name: Short 2nd metacarpal
alt_id: HP:0006231
def: "Short second metacarpal bone because of developmental hypoplasia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic 2nd metacarpal" RELATED []
synonym: "Rudimentary 2nd metacarpal" EXACT []
synonym: "Shortened 2nd long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1969397
xref: UMLS:C4020774
is_a: HP:0010036 ! Aplasia/Hypoplasia of the 2nd metacarpal
is_a: HP:0010049 ! Short metacarpal
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:35:04Z

[Term]
id: HP:0010039
name: Aplasia/Hypoplasia of the 3rd metacarpal
def: "Aplasia or Hypoplasia affecting the 3rd metacarpal." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small 3rd long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped 3rd long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024089
is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones
is_a: HP:0010011 ! Abnormal 3rd metacarpal morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:35:51Z

[Term]
id: HP:0010040
name: Aplasia of the 3rd metacarpal
def: "Absence of the third long bone of the hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent 3rd long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024088
is_a: HP:0010039 ! Aplasia/Hypoplasia of the 3rd metacarpal
is_a: HP:0010048 ! Aplasia of metacarpal bones
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:36:08Z

[Term]
id: HP:0010041
name: Short 3rd metacarpal
alt_id: HP:0005624
alt_id: HP:0006074
alt_id: HP:0006120
def: "Short third metacarpal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic 3rd metacarpal" EXACT []
synonym: "Short third metacarpals" EXACT []
synonym: "Shortened 3rd long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Small 3rd metacarpals" EXACT []
xref: UMLS:C1850631
is_a: HP:0010039 ! Aplasia/Hypoplasia of the 3rd metacarpal
is_a: HP:0010049 ! Short metacarpal
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:36:08Z

[Term]
id: HP:0010042
name: Aplasia/Hypoplasia of the 4th metacarpal
def: "Aplasia or Hypoplasia affecting the 4th metacarpal." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small 4th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped 4th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024087
is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones
is_a: HP:0010012 ! Abnormal 4th metacarpal morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:36:49Z

[Term]
id: HP:0010043
name: Aplasia of the 4th metacarpal
def: "Absence of the fourth long bone of the hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent 4th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024086
is_a: HP:0010042 ! Aplasia/Hypoplasia of the 4th metacarpal
is_a: HP:0010048 ! Aplasia of metacarpal bones
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:37:00Z

[Term]
id: HP:0010044
name: Short 4th metacarpal
alt_id: HP:0005094
def: "Short fourth metacarpal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic fourth metacarpal" EXACT []
synonym: "Short 4th metacarpals" EXACT []
synonym: "Short fourth metacarpals" EXACT []
synonym: "Shortened 4th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1840309
is_a: HP:0010042 ! Aplasia/Hypoplasia of the 4th metacarpal
is_a: HP:0010049 ! Short metacarpal
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:37:00Z

[Term]
id: HP:0010045
name: Aplasia/Hypoplasia of the 5th metacarpal
def: "Aplasia or Hypoplasia affecting the 5th metacarpal." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small 5th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped 5th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024085
is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones
is_a: HP:0010013 ! Abnormal 5th metacarpal morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:37:31Z

[Term]
id: HP:0010046
name: Aplasia of the 5th metacarpal
alt_id: HP:0006103
def: "Absence of the fifth long bone of the hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent 5th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent 5th metacarpal" EXACT []
xref: UMLS:C1867929
is_a: HP:0010045 ! Aplasia/Hypoplasia of the 5th metacarpal
is_a: HP:0010048 ! Aplasia of metacarpal bones
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:37:44Z

[Term]
id: HP:0010047
name: Short 5th metacarpal
alt_id: HP:0005737
alt_id: HP:0006004
alt_id: HP:0006222
def: "Short fifth metacarpal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fifth metacarpal hypoplasia" EXACT []
synonym: "Hypoplastic 5th metacarpal" EXACT []
synonym: "Short fifth metacarpal" EXACT []
synonym: "Short fifth metacarpals" EXACT []
synonym: "Shortened 5th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1861388
is_a: HP:0010045 ! Aplasia/Hypoplasia of the 5th metacarpal
is_a: HP:0010049 ! Short metacarpal
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:37:44Z

[Term]
id: HP:0010048
name: Aplasia of metacarpal bones
alt_id: HP:0005911
def: "Developmental defect associated with absence of one or more metacarpal bones." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Absent long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent metacarpal" EXACT []
synonym: "Absent metacarpals" EXACT []
xref: UMLS:C1846473
is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:40:58Z

[Term]
id: HP:0010049
name: Short metacarpal
alt_id: HP:0001164
alt_id: HP:0005695
alt_id: HP:0005717
alt_id: HP:0005909
alt_id: HP:0006047
alt_id: HP:0006183
alt_id: HP:0006186
def: "Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal." [PMID:19125433]
comment: Short metacarpals can involve any of the metacarpal bones, and the affected ray should be specified. The assessment of isolated short metacarpal can be made by viewing the dorsum of the hand when clenched. Note that if metacarpals F2-5 are affected, the correct term is Short palm.
subset: hposlim_core
synonym: "Brachymetacarpalia" EXACT []
synonym: "Hypoplastic metacarpal" EXACT []
synonym: "Metacarpal hypoplasia" EXACT []
synonym: "Short metacarpal bones" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Short metacarpals" EXACT []
synonym: "Shortened long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Shortened long bones of hand" EXACT []
synonym: "Shortened metacarpals" EXACT []
synonym: "Shortening of metacarpals" EXACT []
xref: UMLS:C1837084
is_a: HP:0003026 ! Short long bone
is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-27T04:40:58Z

[Term]
id: HP:0010051
name: Deviation of the hallux
alt_id: HP:0004700
def: "Displacement of the big toe from its normal position." [https://orcid.org/0000-0002-0736-9199]
synonym: "Displacement of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Displacement of the hallux" EXACT []
xref: UMLS:C4021344
is_a: HP:0001844 ! Abnormal hallux morphology
is_a: HP:0100498 ! Deviation of toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T11:36:44Z

[Term]
id: HP:0010052
name: Abnormal morphology of the proximal phalanx of the hallux
def: "An abnormal shape or form of the proximal phalanx of the big toe." [https://orcid.org/0000-0002-0736-9199]
comment: In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the big toe is embryologically equivalent to the middle phalanges of the other digits, whereas the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
synonym: "Abnormal innermost big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the proximal phalanx of the hallux" EXACT []
xref: UMLS:C4024084
is_a: HP:0010057 ! Abnormal hallux phalanx morphology
is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T11:47:46Z

[Term]
id: HP:0010053
name: Abnormality of the distal phalanx of the hallux
synonym: "Abnormality of the outermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024083
is_a: HP:0010057 ! Abnormal hallux phalanx morphology
is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T11:49:11Z

[Term]
id: HP:0010054
name: Abnormality of the first metatarsal bone
def: "An anomaly of the first metatarsal bone." [https://orcid.org/0000-0002-0736-9199]
comment: In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the first metatarsal.
synonym: "Abnormality of the 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024082
is_a: HP:0001832 ! Abnormal metatarsal morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T11:49:54Z

[Term]
id: HP:0010055
name: Broad hallux
alt_id: HP:0001834
alt_id: HP:0003094
alt_id: HP:0004710
alt_id: HP:0005883
def: "Visible increase in width of the hallux without an increase in the dorso-ventral dimension." [PMID:19125433]
comment: Note that girth may be increased in a broad hallux, but this must be distinguished from Macrodactyly because there the length is also increased. This assessment may be difficult when the hallux is short.
subset: hposlim_core
synonym: "Abnormally broad great toes" EXACT []
synonym: "Broad big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Broad great toe" EXACT []
synonym: "Broad great toes" EXACT []
synonym: "Broad halluces" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Wide big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1867131
is_a: HP:0001837 ! Broad toe
is_a: HP:0001844 ! Abnormal hallux morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T11:56:24Z

[Term]
id: HP:0010056
name: Abnormality of the epiphyses of the hallux
synonym: "Abnormality of the end part of the big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024081
is_a: HP:0001844 ! Abnormal hallux morphology
is_a: HP:0010160 ! Abnormal toe epiphysis morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:00:08Z

[Term]
id: HP:0010057
name: Abnormal hallux phalanx morphology
synonym: "Abnormal big toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the phalanges of the hallux" EXACT []
xref: UMLS:C4024080
is_a: HP:0001844 ! Abnormal hallux morphology
is_a: HP:0010161 ! Abnormal toe phalanx morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:00:08Z

[Term]
id: HP:0010058
name: Aplasia/Hypoplasia of the phalanges of the hallux
synonym: "Absent/small big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024079
is_a: HP:0008362 ! Aplasia/Hypoplasia of the hallux
is_a: HP:0010057 ! Abnormal hallux phalanx morphology
is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:10:46Z

[Term]
id: HP:0010059
name: Broad hallux phalanx
def: "An increase in width in one or more phalanges of the big toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Broad phalanges of the hallux" EXACT []
synonym: "Wide bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021343
is_a: HP:0010057 ! Abnormal hallux phalanx morphology
is_a: HP:0010174 ! Broad phalanx of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:10:46Z

[Term]
id: HP:0010060
name: Bullet-shaped hallux phalanx
def: "An abnormal morphology of one or more phalanges of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Bullet-shaped phalanges of the hallux" EXACT []
xref: UMLS:C4021342
is_a: HP:0010057 ! Abnormal hallux phalanx morphology
is_a: HP:0010175 ! Bullet-shaped toe phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:10:46Z

[Term]
id: HP:0010061
name: Curved hallux phalanx
def: "A deviation from the normal straight form of one or more phalanges of the big toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curve bones of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Curved phalanges of the hallux" EXACT []
xref: UMLS:C4021341
is_a: HP:0010057 ! Abnormal hallux phalanx morphology
is_a: HP:0010176 ! Curved toe phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:10:46Z

[Term]
id: HP:0010062
name: Osteolytic defects of the phalanges of the hallux
xref: UMLS:C4024078
is_a: HP:0010057 ! Abnormal hallux phalanx morphology
is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:10:46Z

[Term]
id: HP:0010063
name: Patchy sclerosis of hallux phalanx
def: "Patchy (irregular) increase in bone density of one or more phalanges of the big toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [https://orcid.org/0000-0002-0736-9199]
synonym: "Patchy sclerosis of the phalanges of the hallux" EXACT []
synonym: "Uneven increase in bone density in big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021340
is_a: HP:0010057 ! Abnormal hallux phalanx morphology
is_a: HP:0010178 ! Patchy sclerosis of toe phalanx
is_a: HP:0100930 ! Sclerosis of hallux phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:10:46Z

[Term]
id: HP:0010064
name: Symphalangism affecting the phalanges of the hallux
alt_id: HP:0004687
synonym: "Fused big toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "hallucal symphalangism" EXACT []
xref: UMLS:C1836216
is_a: HP:0010057 ! Abnormal hallux phalanx morphology
is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes
is_a: HP:0100235 ! Synostosis involving bones of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:10:46Z

[Term]
id: HP:0010065
name: Triangular shaped phalanges of the hallux
synonym: "Triangular shaped bones of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024077
is_a: HP:0010057 ! Abnormal hallux phalanx morphology
is_a: HP:0010180 ! Triangular shaped phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:10:46Z

[Term]
id: HP:0010066
name: Duplication of phalanx of hallux
alt_id: HP:0001784
alt_id: HP:0005785
alt_id: HP:0005851
def: "Partial or complete duplication of one or more phalanx of big toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Duplicated hallux" EXACT []
synonym: "Duplication of big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Duplication of great toes" EXACT layperson []
synonym: "Duplication of phalanx of big toe" EXACT []
synonym: "Hallucal duplication" EXACT []
synonym: "Partial/complete duplication of the phalanges of the hallux" NARROW []
xref: UMLS:C1860164
xref: UMLS:C4020691
is_a: HP:0010057 ! Abnormal hallux phalanx morphology
is_a: HP:0010181 ! Duplication of phalanx of toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:10:46Z

[Term]
id: HP:0010067
name: Aplasia/hypoplasia of the 1st metatarsal
def: "Absence or underdevelopment of the first metatarsal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024076
is_a: HP:0010054 ! Abnormality of the first metatarsal bone
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:13:57Z

[Term]
id: HP:0010068
name: Broad first metatarsal
alt_id: HP:0004709
alt_id: HP:0008085
alt_id: HP:0008139
def: "Increased side-to-side width of the first metatarsal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad 1st metatarsal" EXACT []
synonym: "Enlarged first metatarsal" EXACT []
synonym: "Wide 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1855899
is_a: HP:0001783 ! Broad metatarsal
is_a: HP:0010054 ! Abnormality of the first metatarsal bone
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:13:57Z

[Term]
id: HP:0010069
name: Bullet-shaped 1st metatarsal
def: "An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024075
is_a: HP:0010054 ! Abnormality of the first metatarsal bone
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:13:57Z

[Term]
id: HP:0010070
name: Curved 1st metatarsal
def: "A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curved 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024074
is_a: HP:0010054 ! Abnormality of the first metatarsal bone
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:13:57Z

[Term]
id: HP:0010071
name: Osteolytic defects of the 1st metatarsal
def: "Dissolution or degeneration of bone tissue of the first metatarsal." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4024073
is_a: HP:0001473 ! Metatarsal osteolysis
is_a: HP:0010054 ! Abnormality of the first metatarsal bone
is_a: HP:0010062 ! Osteolytic defects of the phalanges of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:13:57Z

[Term]
id: HP:0010072
name: Patchy sclerosis of the 1st metatarsal
synonym: "Uneven increase in bone density of the 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024072
is_a: HP:0010054 ! Abnormality of the first metatarsal bone
is_a: HP:0010063 ! Patchy sclerosis of hallux phalanx
is_a: HP:0010208 ! Patchy sclerosis of proximal toe phalanx
is_a: HP:0100945 ! Sclerosis of the 1st metatarsal
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:13:57Z

[Term]
id: HP:0010073
name: Synostosis involving the 1st metatarsal
synonym: "Fusion involving the 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024071
is_a: HP:0010054 ! Abnormality of the first metatarsal bone
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:13:57Z

[Term]
id: HP:0010074
name: Triangular shaped 1st metatarsal
synonym: "Triangular shaped 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024070
is_a: HP:0010054 ! Abnormality of the first metatarsal bone
is_a: HP:0010065 ! Triangular shaped phalanges of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:13:57Z

[Term]
id: HP:0010075
name: Duplication of the 1st metatarsal
def: "A developmental defect consisting in the duplication of the first metatarsal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Duplicated 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Duplicated first metatarsals" EXACT []
xref: UMLS:C1851855
is_a: HP:0001449 ! Duplication of metatarsal bones
is_a: HP:0010054 ! Abnormality of the first metatarsal bone
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:13:57Z

[Term]
id: HP:0010076
name: Aplasia/Hypoplasia of the distal phalanx of the hallux
synonym: "Absent/small outermost big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped outermost big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024069
is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux
is_a: HP:0010058 ! Aplasia/Hypoplasia of the phalanges of the hallux
is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:16:28Z

[Term]
id: HP:0010077
name: Broad distal phalanx of the hallux
def: "An increase in width of the distal phalanx of the big toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad outermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Wide outermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024068
is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux
is_a: HP:0010059 ! Broad hallux phalanx
is_a: HP:0010186 ! Broad distal phalanx of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:16:28Z

[Term]
id: HP:0010078
name: Bullet-shaped distal phalanx of the hallux
def: "An abnormal morphology of the distal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped outermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024067
is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux
is_a: HP:0010060 ! Bullet-shaped hallux phalanx
is_a: HP:0010187 ! Bullet-shaped distal toe phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:16:28Z

[Term]
id: HP:0010079
name: Curved distal phalanx of the hallux
def: "A deviation from the normal straight form of the distal phalanx of the big toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curved outermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024066
is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux
is_a: HP:0010061 ! Curved hallux phalanx
is_a: HP:0010188 ! Curved distal toe phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:16:28Z

[Term]
id: HP:0010080
name: Osteolytic defects of the distal phalanx of the hallux
xref: UMLS:C4024065
is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux
is_a: HP:0010062 ! Osteolytic defects of the phalanges of the hallux
is_a: HP:0010189 ! Osteolytic defects of the distal phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:16:28Z

[Term]
id: HP:0010081
name: Patchy sclerosis of the distal phalanx of the hallux
synonym: "Uneven increase in bone density in the outermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024064
is_a: HP:0010063 ! Patchy sclerosis of hallux phalanx
is_a: HP:0010190 ! Patchy sclerosis of distal toe phalanx
is_a: HP:0100944 ! Sclerosis of the distal phalanx of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:16:28Z

[Term]
id: HP:0010082
name: Symphalangism affecting the distal phalanx of the hallux
synonym: "Fused outermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024063
is_a: HP:0001859 ! Distal foot symphalangism
is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux
is_a: HP:0010091 ! Symphalangism affecting the proximal phalanx of the hallux
is_a: HP:0010191 ! Symphalangism affecting the distal phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:16:28Z

[Term]
id: HP:0010083
name: Triangular shaped distal phalanx of the hallux
synonym: "Triangular shaped outermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024062
is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux
is_a: HP:0010065 ! Triangular shaped phalanges of the hallux
is_a: HP:0010192 ! Triangular shaped distal phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:16:28Z

[Term]
id: HP:0010084
name: Duplication of the distal phalanx of the hallux
synonym: "Duplication of the outermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial/complete duplication of the distal phalanx of the hallux" EXACT []
xref: UMLS:C4021339
is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux
is_a: HP:0010066 ! Duplication of phalanx of hallux
is_a: HP:0010193 ! Duplication of distal phalanx of toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:16:28Z

[Term]
id: HP:0010085
name: Aplasia/Hypoplasia of the proximal phalanx of the hallux
synonym: "Absent/small innermost big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped innermost big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024061
is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux
is_a: HP:0010058 ! Aplasia/Hypoplasia of the phalanges of the hallux
is_a: HP:0010194 ! Aplasia/Hypoplasia of the middle phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:17:16Z

[Term]
id: HP:0010086
name: Broad proximal phalanx of the hallux
def: "Increased width of proximal phalanx of big toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad innermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Broad proximal phalanx of the big toe" EXACT []
xref: UMLS:C4021338
is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux
is_a: HP:0010059 ! Broad hallux phalanx
is_a: HP:0010204 ! Broad proximal phalanx of toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:17:16Z

[Term]
id: HP:0010087
name: Bullet-shaped proximal phalanx of the hallux
def: "An abnormal morphology of the proximal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped innermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024060
is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux
is_a: HP:0010060 ! Bullet-shaped hallux phalanx
is_a: HP:0010205 ! Bullet-shaped proximal toe phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:17:16Z

[Term]
id: HP:0010088
name: Curved proximal phalanx of the hallux
def: "A deviation from the normal straight form of the proximal phalanx of the big toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curved innermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024059
is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux
is_a: HP:0010061 ! Curved hallux phalanx
is_a: HP:0010206 ! Curved proximal toe phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:17:16Z

[Term]
id: HP:0010089
name: Osteolytic defects of the proximal phalanx of the hallux
xref: UMLS:C4024058
is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux
is_a: HP:0010062 ! Osteolytic defects of the phalanges of the hallux
is_a: HP:0010198 ! Osteolytic defects of the middle phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:17:16Z

[Term]
id: HP:0010090
name: Patchy sclerosis of the proximal phalanx of the hallux
synonym: "Uneven increase in bone density in the innermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024057
is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux
is_a: HP:0010063 ! Patchy sclerosis of hallux phalanx
is_a: HP:0010199 ! Patchy sclerosis of middle toe phalanx
is_a: HP:0100943 ! Sclerosis of the proximal phalanx of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:17:16Z

[Term]
id: HP:0010091
name: Symphalangism affecting the proximal phalanx of the hallux
synonym: "Fused innermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024056
is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux
is_a: HP:0010064 ! Symphalangism affecting the phalanges of the hallux
is_a: HP:0010200 ! Symphalangism affecting the middle phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:17:16Z

[Term]
id: HP:0010092
name: Triangular shaped proximal phalanx of the hallux
synonym: "Triangular shaped innermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024055
is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux
is_a: HP:0010065 ! Triangular shaped phalanges of the hallux
is_a: HP:0010201 ! Triangular shaped middle phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:17:16Z

[Term]
id: HP:0010093
name: Duplication of the proximal phalanx of the hallux
def: "Partial or complete duplication of the proximal phalanx of big toe." [https://orcid.org/0009-0006-4530-3154]
synonym: "Duplication of the innermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024054
is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux
is_a: HP:0010066 ! Duplication of phalanx of hallux
is_a: HP:0010202 ! Duplication of middle phalanx of toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:17:16Z

[Term]
id: HP:0010094
name: Complete duplication of the proximal phalanx of the hallux
def: "Complete duplication of the proximal phalanx of big toe." [https://orcid.org/0009-0006-4530-3154]
synonym: "Complete duplication of the innermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024053
is_a: HP:0010093 ! Duplication of the proximal phalanx of the hallux
is_a: HP:0010100 ! Complete duplication of hallux phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:18:59Z

[Term]
id: HP:0010095
name: Partial duplication of the proximal phalanx of the hallux
def: "Partial duplication of the proximal phalanx of big toe." [https://orcid.org/0009-0006-4530-3154]
synonym: "Partial duplication of the innermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024052
is_a: HP:0010093 ! Duplication of the proximal phalanx of the hallux
is_a: HP:0010101 ! Partial duplication of the phalanges of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:18:59Z

[Term]
id: HP:0010096
name: Complete duplication of the distal phalanx of the hallux
synonym: "Complete duplication of the outermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024051
is_a: HP:0010084 ! Duplication of the distal phalanx of the hallux
is_a: HP:0010100 ! Complete duplication of hallux phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:19:30Z

[Term]
id: HP:0010097
name: Partial duplication of the distal phalanx of the hallux
alt_id: HP:0008091
synonym: "Bifid distal phalanx of hallux" EXACT []
synonym: "Notched outermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial duplication of the outermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021337
is_a: HP:0010084 ! Duplication of the distal phalanx of the hallux
is_a: HP:0010101 ! Partial duplication of the phalanges of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:19:30Z

[Term]
id: HP:0010098
name: Complete duplication of the 1st metatarsal
alt_id: HP:0008121
def: "A developmental defect consisting in the complete duplication of the first metatarsal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Complete duplication of the 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024050
is_a: HP:0010075 ! Duplication of the 1st metatarsal
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:20:12Z

[Term]
id: HP:0010099
name: Partial duplication of the 1st metatarsal
def: "A developmental defect consisting in the duplication of part of the first metatarsal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Partial duplication of the 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024049
is_a: HP:0010075 ! Duplication of the 1st metatarsal
is_a: HP:0010101 ! Partial duplication of the phalanges of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:20:12Z

[Term]
id: HP:0010100
name: Complete duplication of hallux phalanx
def: "Complete duplication of one or more phalanx of big toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Complete duplication of big toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Complete duplication of the phalanges of the hallux" EXACT []
xref: UMLS:C4021336
is_a: HP:0010066 ! Duplication of phalanx of hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:22:12Z

[Term]
id: HP:0010101
name: Partial duplication of the phalanges of the hallux
alt_id: HP:0004678
synonym: "Partial duplication of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "partial duplication of hallux" EXACT []
xref: UMLS:C1855005
is_a: HP:0010066 ! Duplication of phalanx of hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:22:12Z

[Term]
id: HP:0010102
name: Aplasia of the distal phalanx of the hallux
synonym: "Absent outermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024048
is_a: HP:0010076 ! Aplasia/Hypoplasia of the distal phalanx of the hallux
is_a: HP:0010110 ! Aplasia of the phalanges of the hallux
is_a: HP:0010645 ! Aplasia of the distal phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:41:37Z

[Term]
id: HP:0010103
name: Short distal phalanx of hallux
def: "Underdevelopment (hypoplasia) of the distal phalanx of big toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic/small distal phalanx of the hallux" EXACT []
synonym: "Small distal phalanx of big toe" EXACT []
synonym: "Small distal phalanx of hallux" EXACT []
synonym: "Small outermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021335
is_a: HP:0010076 ! Aplasia/Hypoplasia of the distal phalanx of the hallux
is_a: HP:0010111 ! Short phalanx of hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:41:37Z

[Term]
id: HP:0010104
name: Absent first metatarsal
alt_id: HP:0006124
def: "A developmental defect characterized by the absence of the first metatarsal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent 1st metatarsal" EXACT []
synonym: "Aplasia of the 1st metatarsal" EXACT []
xref: UMLS:C1863382
is_a: HP:0010067 ! Aplasia/hypoplasia of the 1st metatarsal
is_a: HP:0010744 ! Absent metatarsal bone
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:42:09Z

[Term]
id: HP:0010105
name: Short first metatarsal
alt_id: HP:0004680
def: "Short first metatarsal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "First metatarsal hypoplasia" EXACT []
synonym: "First metatarsals hypoplastic" EXACT []
synonym: "Short 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1841688
is_a: HP:0010054 ! Abnormality of the first metatarsal bone
is_a: HP:0010743 ! Short metatarsal
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:42:09Z

[Term]
id: HP:0010106
name: Aplasia of the proximal phalanx of the hallux
synonym: "Absent innermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024047
is_a: HP:0010085 ! Aplasia/Hypoplasia of the proximal phalanx of the hallux
is_a: HP:0010110 ! Aplasia of the phalanges of the hallux
is_a: HP:0100388 ! Aplasia of the proximal phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:43:40Z

[Term]
id: HP:0010107
name: Short proximal phalanx of hallux
alt_id: HP:0008101
alt_id: HP:0008129
def: "Underdevelopment (hypoplasia) of the proximal phalanx of big toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic proximal phalanx of the hallux" EXACT []
synonym: "Short innermost big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Short proximal phalanges of halluces" EXACT []
synonym: "Short proximal phalanx of halluces" EXACT []
synonym: "Small proximal phalanx of big toe" EXACT []
synonym: "Small proximal phalanx of hallux" EXACT []
xref: UMLS:C1862159
is_a: HP:0010085 ! Aplasia/Hypoplasia of the proximal phalanx of the hallux
is_a: HP:0010111 ! Short phalanx of hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:43:40Z

[Term]
id: HP:0010109
name: Short hallux
alt_id: HP:0001843
alt_id: HP:0001861
alt_id: HP:0005610
alt_id: HP:0008105
def: "Underdevelopment (hypoplasia) of the big toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic big toes" EXACT []
synonym: "Hypoplastic hallux" EXACT []
synonym: "Short big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Short halluces" EXACT []
synonym: "Small hallux" EXACT []
xref: UMLS:C1865992
is_a: HP:0001831 ! Short toe
is_a: HP:0008362 ! Aplasia/Hypoplasia of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:46:14Z

[Term]
id: HP:0010110
name: Aplasia of the phalanges of the hallux
synonym: "Absent bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024046
is_a: HP:0010058 ! Aplasia/Hypoplasia of the phalanges of the hallux
is_a: HP:0010745 ! Aplasia of the phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:49:19Z

[Term]
id: HP:0010111
name: Short phalanx of hallux
def: "Underdevelopment (hypoplasia) of a phalanx of big toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic phalanges of the hallux" EXACT layperson []
synonym: "Short bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021334
is_a: HP:0010058 ! Aplasia/Hypoplasia of the phalanges of the hallux
is_a: HP:0010109 ! Short hallux
is_a: HP:0010746 ! Hypoplasia of the phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T12:49:19Z

[Term]
id: HP:0010112
name: Mesoaxial foot polydactyly
def: "The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Central polydactyly of feet" EXACT layperson []
xref: UMLS:C4021333
is_a: HP:0001829 ! Foot polydactyly
is_a: HP:0100260 ! Mesoaxial polydactyly
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:11:06Z

[Term]
id: HP:0010113
name: Absent hallux epiphysis
def: "Failure to form (agenesis) of one or more epiphyses of the big toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent end part of big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent epiphyses of the hallux" EXACT []
xref: UMLS:C4020906
is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux
is_a: HP:0010162 ! Absent epiphyses of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:16:38Z

[Term]
id: HP:0010114
name: Bracket epiphyses of the hallux
synonym: "Bracket shaped end part of big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024045
is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux
is_a: HP:0010163 ! Bracket epiphyses of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:16:38Z

[Term]
id: HP:0010115
name: Cone-shaped epiphyses of the hallux
synonym: "Cone-shaped end part of the big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024044
is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux
is_a: HP:0010164 ! Cone-shaped epiphyses of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:16:38Z

[Term]
id: HP:0010116
name: Enlarged epiphyses of the hallux
synonym: "Enlarged end part of the big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024043
is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux
is_a: HP:0010165 ! Enlarged epiphyses of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:16:38Z

[Term]
id: HP:0010117
name: Fragmentation of the epiphyses of the hallux
synonym: "Fragmentation of the end part of the big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024042
is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux
is_a: HP:0010166 ! Fragmentation of the epiphyses of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:16:38Z

[Term]
id: HP:0010118
name: Irregular epiphyses of the hallux
synonym: "Irregular end part of big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024041
is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux
is_a: HP:0010167 ! Irregular epiphyses of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:16:38Z

[Term]
id: HP:0010119
name: Ivory epiphyses of the hallux
synonym: "Increased bone density of end part of the big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024040
is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux
is_a: HP:0010168 ! Ivory epiphyses of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:16:38Z

[Term]
id: HP:0010120
name: Pseudoepiphyses of the hallux
xref: UMLS:C4024039
is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux
is_a: HP:0010169 ! Pseudoepiphyses of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:16:38Z

[Term]
id: HP:0010121
name: Small epiphyses of the hallux
synonym: "Small end part of the big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024038
is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux
is_a: HP:0010170 ! Small epiphyses of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:16:38Z

[Term]
id: HP:0010122
name: Stippling of the epiphyses of the hallux
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the hallux." [https://orcid.org/0000-0002-0736-9199]
synonym: "Speckled calcifications in the end part of the big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024037
is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux
is_a: HP:0010171 ! Epiphyseal stippling of toe phalanges
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:16:38Z

[Term]
id: HP:0010123
name: Triangular epiphyses of the hallux
synonym: "Triangular end part of the big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024036
is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux
is_a: HP:0010172 ! Triangular epiphyses of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:16:38Z

[Term]
id: HP:0010124
name: Abnormality of the epiphysis of the distal phalanx of the hallux
synonym: "Abnormality of the end part of the outermost bone of the big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024035
is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:17:54Z

[Term]
id: HP:0010125
name: Abnormality of the epiphysis of the 1st metatarsal
def: "In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the epiphysis of the first metatarsal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the end part of the 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024034
is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:17:54Z

[Term]
id: HP:0010126
name: Abnormality of the epiphysis of the proximal phalanx of the hallux
def: "In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the end part of the innermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024033
is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:17:54Z

[Term]
id: HP:0010127
name: Absent epiphysis of the proximal phalanx of the hallux
def: "Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent end part of the innermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024032
is_a: HP:0010113 ! Absent hallux epiphysis
is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:22:23Z

[Term]
id: HP:0010128
name: Bracket epiphysis of the proximal phalanx of the hallux
def: "The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bracket shaped end part of the innermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024031
is_a: HP:0010114 ! Bracket epiphyses of the hallux
is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:22:23Z

[Term]
id: HP:0010129
name: Cone-shaped epiphysis of the proximal phalanx of the hallux
synonym: "Cone-shaped end part of the innermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024030
is_a: HP:0010115 ! Cone-shaped epiphyses of the hallux
is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:22:23Z

[Term]
id: HP:0010130
name: Enlarged epiphysis of the proximal phalanx of the hallux
synonym: "Enlarged end part of the innermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024029
is_a: HP:0010116 ! Enlarged epiphyses of the hallux
is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:22:23Z

[Term]
id: HP:0010131
name: Fragmentation of the epiphysis of the proximal phalanx of the hallux
synonym: "Fragmentation of the end part of the innermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024028
is_a: HP:0010117 ! Fragmentation of the epiphyses of the hallux
is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:22:23Z

[Term]
id: HP:0010132
name: Irregular epiphysis of the proximal phalanx of the hallux
synonym: "Irregular end part of the innermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024027
is_a: HP:0010118 ! Irregular epiphyses of the hallux
is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:22:23Z

[Term]
id: HP:0010133
name: Ivory epiphysis of the proximal phalanx of the hallux
synonym: "Increased bone density of end part of the innermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024026
is_a: HP:0010119 ! Ivory epiphyses of the hallux
is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:22:23Z

[Term]
id: HP:0010134
name: Pseudoepiphysis of the proximal phalanx of the hallux
def: "A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the big toe." []
xref: UMLS:C4024025
is_a: HP:0010120 ! Pseudoepiphyses of the hallux
is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:22:23Z

[Term]
id: HP:0010135
name: Small epiphysis of the proximal phalanx of the hallux
synonym: "Small end part of the innermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024024
is_a: HP:0010121 ! Small epiphyses of the hallux
is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:22:23Z

[Term]
id: HP:0010136
name: Stippling of the epiphysis of the proximal phalanx of the hallux
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the hallux." [https://orcid.org/0000-0002-0736-9199]
synonym: "Speckled calcifications in the end part of the innermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024023
is_a: HP:0010122 ! Stippling of the epiphyses of the hallux
is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:22:23Z

[Term]
id: HP:0010137
name: Triangular epiphysis of the proximal phalanx of the hallux
synonym: "Triangular end part of the innermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024022
is_a: HP:0010123 ! Triangular epiphyses of the hallux
is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:22:23Z

[Term]
id: HP:0010138
name: Absent epiphysis of the distal phalanx of the hallux
def: "Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent end part of the outermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024021
is_a: HP:0010113 ! Absent hallux epiphysis
is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:22:47Z

[Term]
id: HP:0010139
name: Bracket epiphysis of the distal phalanx of the hallux
def: "The epiphysis of the distal phalanx of the hallux surrounds the diaphysis, having a bracket-like form." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bracket shaped end part of the outermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024020
is_a: HP:0010114 ! Bracket epiphyses of the hallux
is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:22:47Z

[Term]
id: HP:0010140
name: Cone-shaped epiphysis of the distal phalanx of the hallux
synonym: "Cone-shaped end part of the outermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024019
is_a: HP:0010115 ! Cone-shaped epiphyses of the hallux
is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:22:47Z

[Term]
id: HP:0010141
name: Enlarged epiphysis of the distal phalanx of the hallux
synonym: "Enlarged end part of the outermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024018
is_a: HP:0010116 ! Enlarged epiphyses of the hallux
is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:22:47Z

[Term]
id: HP:0010142
name: Fragmentation of the epiphysis of the distal phalanx of the hallux
synonym: "Fragmentation of the end part of the outermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024017
is_a: HP:0010117 ! Fragmentation of the epiphyses of the hallux
is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:22:47Z

[Term]
id: HP:0010143
name: Irregular epiphysis of the distal phalanx of the hallux
synonym: "Irregular end part of the outermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024016
is_a: HP:0010118 ! Irregular epiphyses of the hallux
is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:22:47Z

[Term]
id: HP:0010144
name: Ivory epiphysis of the distal phalanx of the hallux
synonym: "Increased bone density of end part of the outermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024015
is_a: HP:0010119 ! Ivory epiphyses of the hallux
is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:22:47Z

[Term]
id: HP:0010145
name: Pseudoepiphysis of the distal phalanx of the hallux
xref: UMLS:C4024014
is_a: HP:0010120 ! Pseudoepiphyses of the hallux
is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:22:47Z

[Term]
id: HP:0010146
name: Small epiphysis of the distal phalanx of the hallux
synonym: "Small end part of the outermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024013
is_a: HP:0010121 ! Small epiphyses of the hallux
is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:22:47Z

[Term]
id: HP:0010147
name: Stippling of the epiphysis of the distal phalanx of the hallux
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the hallux." [https://orcid.org/0000-0002-0736-9199]
synonym: "Speckled calcifications in the end part of the outermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024012
is_a: HP:0010122 ! Stippling of the epiphyses of the hallux
is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:22:47Z

[Term]
id: HP:0010148
name: Triangular epiphysis of the distal phalanx of the hallux
synonym: "Triangular end part of the outermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024011
is_a: HP:0010123 ! Triangular epiphyses of the hallux
is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:22:47Z

[Term]
id: HP:0010149
name: Absent epiphysis of the 1st metatarsal
def: "Failure to form (agenesis) of the epiphysis of the 1st metatarsal." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent end part of the 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024010
is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:24:17Z

[Term]
id: HP:0010150
name: Bracket epiphysis of the 1st metatarsal
def: "The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bracket shaped end part of 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024009
is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:24:17Z

[Term]
id: HP:0010151
name: Cone-shaped epiphysis of the 1st metatarsal
def: "A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cone-shaped end part of the 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024008
is_a: HP:0010054 ! Abnormality of the first metatarsal bone
is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal
is_a: HP:0010630 ! Abnormal metatarsal epiphysis morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:24:17Z

[Term]
id: HP:0010152
name: Enlarged epiphysis of the 1st metatarsal
synonym: "Enlarged end part of the 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024007
is_a: HP:0010116 ! Enlarged epiphyses of the hallux
is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:24:17Z

[Term]
id: HP:0010153
name: Fragmentation of the epiphysis of the 1st metatarsal
synonym: "Fragmentation of the end part of the 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024006
is_a: HP:0010117 ! Fragmentation of the epiphyses of the hallux
is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:24:17Z

[Term]
id: HP:0010154
name: Irregular epiphysis of the 1st metatarsal
synonym: "Irregular end part of the 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024005
is_a: HP:0010118 ! Irregular epiphyses of the hallux
is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:24:17Z

[Term]
id: HP:0010155
name: Ivory epiphysis of the 1st metatarsal
def: "The epiphysis of the 1st metatarsal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased bone density of end part of the 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024004
is_a: HP:0010119 ! Ivory epiphyses of the hallux
is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:24:17Z

[Term]
id: HP:0010156
name: Pseudoepiphysis of the 1st metatarsal
xref: UMLS:C4024003
is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:24:17Z

[Term]
id: HP:0010157
name: Small epiphysis of the 1st metatarsal
synonym: "Small end part of the 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024002
is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:24:17Z

[Term]
id: HP:0010158
name: Stippling of the epiphysis of the 1st metatarsal
synonym: "Speckled calcifications in the end part of the 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024001
is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:24:17Z

[Term]
id: HP:0010159
name: Triangular epiphysis of the 1st metatarsal
synonym: "Triangular end part of the 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024000
is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:24:17Z

[Term]
id: HP:0010160
name: Abnormal toe epiphysis morphology
synonym: "Abnormality of the end part of the toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the epiphyses of the toes" EXACT []
xref: UMLS:C4023999
is_a: HP:0001780 ! Abnormal toe morphology
is_a: HP:0010631 ! Abnormality of the epiphyses of the feet
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:30:42Z

[Term]
id: HP:0010161
name: Abnormal toe phalanx morphology
synonym: "Abnormality of the long bones of the toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the phalanges of the toes" EXACT []
xref: UMLS:C4023998
is_a: HP:0001780 ! Abnormal toe morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:31:17Z

[Term]
id: HP:0010162
name: Absent epiphyses of the toes
def: "Absence of the epiphyses of the phalanges of the toes." [https://orcid.org/0009-0006-4530-3154]
synonym: "Absent end part of the toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023997
is_a: HP:0010160 ! Abnormal toe epiphysis morphology
is_a: HP:0010577 ! Absent epiphyses
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:34:06Z

[Term]
id: HP:0010163
name: Bracket epiphyses of the toes
synonym: "Bracket shaped end part of the toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023996
is_a: HP:0010160 ! Abnormal toe epiphysis morphology
is_a: HP:0010578 ! Bracket epiphyses
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:34:06Z

[Term]
id: HP:0010164
name: Cone-shaped epiphyses of the toes
synonym: "Cone-shaped end part of the toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023995
is_a: HP:0010160 ! Abnormal toe epiphysis morphology
is_a: HP:0034281 ! Phalangeal cone-shaped epiphyses
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:34:06Z

[Term]
id: HP:0010165
name: Enlarged epiphyses of the toes
synonym: "Enlarged end part of the toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023994
is_a: HP:0010160 ! Abnormal toe epiphysis morphology
is_a: HP:0010580 ! Enlarged epiphyses
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:34:06Z

[Term]
id: HP:0010166
name: Fragmentation of the epiphyses of the toes
synonym: "Fragmentation of the end part of the toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023993
is_a: HP:0010160 ! Abnormal toe epiphysis morphology
is_a: HP:0100168 ! Fragmented epiphyses
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:34:06Z

[Term]
id: HP:0010167
name: Irregular epiphyses of the toes
synonym: "Irregular end part of the toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023992
is_a: HP:0010160 ! Abnormal toe epiphysis morphology
is_a: HP:0010582 ! Irregular epiphyses
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:34:06Z

[Term]
id: HP:0010168
name: Ivory epiphyses of the toes
synonym: "Increased bone density of end part of the toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023991
is_a: HP:0010160 ! Abnormal toe epiphysis morphology
is_a: HP:0010583 ! Ivory epiphyses
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:34:06Z

[Term]
id: HP:0010169
name: Pseudoepiphyses of the toes
xref: UMLS:C4023990
is_a: HP:0010160 ! Abnormal toe epiphysis morphology
is_a: HP:0010584 ! Pseudoepiphyses
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:34:06Z

[Term]
id: HP:0010170
name: Small epiphyses of the toes
synonym: "Small end part of the toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023989
is_a: HP:0010160 ! Abnormal toe epiphysis morphology
is_a: HP:0010585 ! Small epiphyses
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:34:06Z

[Term]
id: HP:0010171
name: Epiphyseal stippling of toe phalanges
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Speckled calcifications in long toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Stippling of the epiphyses of the toes" EXACT []
xref: UMLS:C4021332
is_a: HP:0010160 ! Abnormal toe epiphysis morphology
is_a: HP:0010655 ! Epiphyseal stippling
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:34:06Z

[Term]
id: HP:0010172
name: Triangular epiphyses of the toes
synonym: "Triangular end part of the toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023988
is_a: HP:0010160 ! Abnormal toe epiphysis morphology
is_a: HP:0010587 ! Triangular epiphysis
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:34:06Z

[Term]
id: HP:0010173
name: Aplasia/Hypoplasia of the phalanges of the toes
synonym: "Absent/small toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023987
is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet
is_a: HP:0010161 ! Abnormal toe phalanx morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:39:26Z

[Term]
id: HP:0010174
name: Broad phalanx of the toes
def: "Increased width of phalanx of one or more toes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Wide toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023986
is_a: HP:0006009 ! Broad phalanx
is_a: HP:0010161 ! Abnormal toe phalanx morphology
is_a: HP:0040069 ! Abnormal lower limb bone morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:39:26Z

[Term]
id: HP:0010175
name: Bullet-shaped toe phalanx
def: "An abnormal morphology of one or more phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped phalanges of the toes" EXACT layperson []
synonym: "Bullet-shaped toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021331
is_a: HP:0010161 ! Abnormal toe phalanx morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:39:26Z

[Term]
id: HP:0010176
name: Curved toe phalanx
def: "A deviation from the normal straight form of one or more toe phalanges." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curved phalanges of the toes" EXACT []
synonym: "Curved toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021330
is_a: HP:0010161 ! Abnormal toe phalanx morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:39:26Z

[Term]
id: HP:0010177
name: Osteolytic defects of the phalanges of the toes
xref: UMLS:C4023985
is_a: HP:0009134 ! Osteolysis involving bones of the feet
is_a: HP:0010161 ! Abnormal toe phalanx morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:39:26Z

[Term]
id: HP:0010178
name: Patchy sclerosis of toe phalanx
def: "Uneven (irregular) increase in bone density of one or more of the phalanges of the foot." [https://orcid.org/0000-0002-0736-9199]
synonym: "Patchy sclerosis of the phalanges of the toes" EXACT []
synonym: "Uneven increase in bone density in toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021329
is_a: HP:0005686 ! Patchy osteosclerosis
is_a: HP:0100924 ! Sclerosis of toe phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:39:26Z

[Term]
id: HP:0010179
name: Symphalangism affecting the phalanges of the toes
synonym: "Fused toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023984
is_a: HP:0010161 ! Abnormal toe phalanx morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:39:26Z

[Term]
id: HP:0010180
name: Triangular shaped phalanges of the toes
synonym: "Triangular shaped toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023983
is_a: HP:0010161 ! Abnormal toe phalanx morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:39:26Z

[Term]
id: HP:0010181
name: Duplication of phalanx of toe
def: "Partial/complete duplication of one or more phalanx of toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Duplicated toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial/complete duplication of the phalanges of the toes" EXACT []
xref: UMLS:C4021328
is_a: HP:0010161 ! Abnormal toe phalanx morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:39:26Z

[Term]
id: HP:0010182
name: Abnormality of the distal phalanges of the toes
synonym: "Abnormality of the outermost bone of the toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023982
is_a: HP:0010161 ! Abnormal toe phalanx morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:51:38Z

[Term]
id: HP:0010183
name: Abnormality of the middle phalanges of the toes
synonym: "Abnormal middle bones of toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023981
is_a: HP:0010161 ! Abnormal toe phalanx morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:51:38Z

[Term]
id: HP:0010184
name: Abnormality of toe proximal phalanx
def: "A morphological anomaly of one or more proximal phalanges of one or more toes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal innermost toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the proximal phalanges of the toes" EXACT []
xref: UMLS:C4021327
is_a: HP:0010161 ! Abnormal toe phalanx morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:51:38Z

[Term]
id: HP:0010185
name: Aplasia/Hypoplasia of the distal phalanges of the toes
alt_id: HP:0005735
alt_id: HP:0005818
def: "Absence or underdevelopment of the distal phalanges of the toes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/hypoplastic terminal phalanges of toes" EXACT []
synonym: "Absent/small outermost bones of toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped outermost bones of toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Hypoplasia/agenesis of distal phalanges of toes" RELATED []
xref: UMLS:C4020773
xref: UMLS:C4021326
is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes
is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes
is_a: HP:0010760 ! Absent toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:52:41Z

[Term]
id: HP:0010186
name: Broad distal phalanx of the toes
def: "Increased width of the distal phalanx of toe of one or more toes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad outermost bone of the toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Wide outermost bone of the toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023980
is_a: HP:0010174 ! Broad phalanx of the toes
is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:52:41Z

[Term]
id: HP:0010187
name: Bullet-shaped distal toe phalanx
def: "An abnormal morphology of one or more distal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped distal phalanges of the toes" EXACT []
synonym: "Bullet-shaped outermost bone of the toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021325
is_a: HP:0010175 ! Bullet-shaped toe phalanx
is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:52:41Z

[Term]
id: HP:0010188
name: Curved distal toe phalanx
def: "A deviation from the normal straight form of one or more distal toe phalanges." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curved distal phalanges of the toes" EXACT []
synonym: "Curved outermost bone of the toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021324
is_a: HP:0010176 ! Curved toe phalanx
is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:52:41Z

[Term]
id: HP:0010189
name: Osteolytic defects of the distal phalanges of the toes
xref: UMLS:C4023979
is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes
is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:52:41Z

[Term]
id: HP:0010190
name: Patchy sclerosis of distal toe phalanx
def: "Patchy (irregular) increase in bone density of one or more of the distal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays." [https://orcid.org/0000-0002-0736-9199]
synonym: "Patchy sclerosis of the distal phalanges of the toes" EXACT []
synonym: "Uneven increase in bone density in outermost toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021323
is_a: HP:0010178 ! Patchy sclerosis of toe phalanx
is_a: HP:0100948 ! Sclerosis of distal toe phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:52:41Z

[Term]
id: HP:0010191
name: Symphalangism affecting the distal phalanges of the toes
synonym: "Fused outermost bones of toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023978
is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes
is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:52:41Z

[Term]
id: HP:0010192
name: Triangular shaped distal phalanges of the toes
synonym: "Triangular shaped outermost bone of the toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023977
is_a: HP:0010180 ! Triangular shaped phalanges of the toes
is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:52:41Z

[Term]
id: HP:0010193
name: Duplication of distal phalanx of toe
def: "A partial or complete duplication of one or more distal phalanx of toe." [https://orcid.org/0009-0006-4530-3154]
synonym: "Duplication of outermost bone of toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial/complete duplication of the distal phalanges of the toes" EXACT []
xref: UMLS:C4021322
is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:52:41Z

[Term]
id: HP:0010194
name: Aplasia/Hypoplasia of the middle phalanges of the toes
synonym: "Absent/small middle bones of toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped middle bones of toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023976
is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes
is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:53:35Z

[Term]
id: HP:0010195
name: Broad middle phalanges of the toes
synonym: "Broad middle bones of the toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023975
is_a: HP:0010174 ! Broad phalanx of the toes
is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:53:35Z

[Term]
id: HP:0010196
name: Bullet-shaped middle toe phalanx
def: "An abnormal morphology of one or more middle phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped middle bones of the toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Bullet-shaped middle phalanges of the toes" EXACT []
xref: UMLS:C4021321
is_a: HP:0010175 ! Bullet-shaped toe phalanx
is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:53:35Z

[Term]
id: HP:0010197
name: Curved middle toe phalanx
def: "A deviation from the normal straight form of one or more middle toe phalanges." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curved middle bones of the toes" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Curved middle phalanges of the toes" EXACT []
xref: UMLS:C4021320
is_a: HP:0010176 ! Curved toe phalanx
is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:53:35Z

[Term]
id: HP:0010198
name: Osteolytic defects of the middle phalanges of the toes
xref: UMLS:C4023974
is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes
is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:53:35Z

[Term]
id: HP:0010199
name: Patchy sclerosis of middle toe phalanx
def: "Patchy (irregular) increase in bone density of one or more of the middle phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays." [https://orcid.org/0000-0002-0736-9199]
synonym: "Patchy sclerosis of the middle phalanges of the toes" EXACT []
synonym: "Uneven increase in bone density in middle toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021319
is_a: HP:0010178 ! Patchy sclerosis of toe phalanx
is_a: HP:0100947 ! Sclerosis of middle toe phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:53:35Z

[Term]
id: HP:0010200
name: Symphalangism affecting the middle phalanges of the toes
synonym: "Fused middle bones of toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023973
is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes
is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:53:35Z

[Term]
id: HP:0010201
name: Triangular shaped middle phalanges of the toes
synonym: "Triangular shaped middle bones of toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023972
is_a: HP:0010180 ! Triangular shaped phalanges of the toes
is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:53:35Z

[Term]
id: HP:0010202
name: Duplication of middle phalanx of toe
def: "Partial or complete duplication of a middle phalanx of toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Partial/complete duplication of the middle bones of the toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial/complete duplication of the middle phalanges of the toes" EXACT []
xref: UMLS:C4021318
is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:53:35Z

[Term]
id: HP:0010203
name: Aplasia/hypoplasia of proximal toe phalanx
def: "Absence (agenesis) or underdevelopment of the proximal phalanx of the toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small innermost toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped innermost toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Aplasia/Hypoplasia of the proximal phalanges of the toes" EXACT []
xref: UMLS:C4021317
is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes
is_a: HP:0010184 ! Abnormality of toe proximal phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:54:18Z

[Term]
id: HP:0010204
name: Broad proximal phalanx of toe
def: "An increase in width of one ore more proximal toe phalanges." [https://orcid.org/0000-0002-0736-9199]
synonym: "Broad innermost toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023971
is_a: HP:0010174 ! Broad phalanx of the toes
is_a: HP:0010184 ! Abnormality of toe proximal phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:54:18Z

[Term]
id: HP:0010205
name: Bullet-shaped proximal toe phalanx
def: "An abnormal morphology of one or more of the proximal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped innermost toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Bullet-shaped proximal phalanges of the toes" EXACT []
synonym: "Bullet-shaped proximal phalanges of toe" EXACT []
xref: UMLS:C4021316
is_a: HP:0010175 ! Bullet-shaped toe phalanx
is_a: HP:0010184 ! Abnormality of toe proximal phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:54:18Z

[Term]
id: HP:0010206
name: Curved proximal toe phalanx
def: "A deviation from the normal straight shape of a proximal phalanx of one or more toes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curved innermost toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Curved proximal phalanges of the toes" EXACT []
xref: UMLS:C4021315
is_a: HP:0010176 ! Curved toe phalanx
is_a: HP:0010184 ! Abnormality of toe proximal phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:54:18Z

[Term]
id: HP:0010207
name: Osteolytic defect of the proximal toe phalanx
def: "Dissolution or degeneration of bone tissue of the proximal toe phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Osteolytic defects of the proximal phalanges of the toes" EXACT []
xref: UMLS:C4021314
is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes
is_a: HP:0010184 ! Abnormality of toe proximal phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:54:18Z

[Term]
id: HP:0010208
name: Patchy sclerosis of proximal toe phalanx
def: "Patchy (irregular) increase in bone density of one or more of the proximal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays." [https://orcid.org/0000-0002-0736-9199]
synonym: "Patchy sclerosis of the proximal phalanges of the toes" EXACT []
synonym: "Uneven increase in bone density in innermost toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021313
is_a: HP:0010178 ! Patchy sclerosis of toe phalanx
is_a: HP:0100946 ! Sclerosis of proximal toe phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:54:18Z

[Term]
id: HP:0010209
name: Symphalangism affecting the proximal phalanges of the toes
synonym: "Fused innermost bones of toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023970
is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes
is_a: HP:0010184 ! Abnormality of toe proximal phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:54:18Z

[Term]
id: HP:0010210
name: Triangular shaped proximal phalanges of the toes
synonym: "Triangular shaped innermost toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023969
is_a: HP:0010180 ! Triangular shaped phalanges of the toes
is_a: HP:0010184 ! Abnormality of toe proximal phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:54:18Z

[Term]
id: HP:0010211
name: Duplication of proximal phalanx of toe
def: "Partial/complete duplication of a proximal phalanx of toe." [https://orcid.org/0009-0006-4530-3154]
synonym: "Duplication of innermost toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial/complete duplication of the proximal phalanges of the toes" EXACT []
xref: UMLS:C4021312
is_a: HP:0010184 ! Abnormality of toe proximal phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-05-29T01:54:18Z

[Term]
id: HP:0010212
name: Flexion contracture of the hallux
def: "One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively." [https://orcid.org/0000-0002-0736-9199]
synonym: "Joint contracture of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Joint contracture of the hallux" EXACT []
xref: UMLS:C4021311
is_a: HP:0001844 ! Abnormal hallux morphology
is_a: HP:0005830 ! Flexion contracture of toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-06-02T01:39:18Z

[Term]
id: HP:0010213
name: Contracture of the tarsometatarsal joint of the hallux
def: "Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc's joints." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023968
is_a: HP:0010212 ! Flexion contracture of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-06-02T01:45:34Z

[Term]
id: HP:0010214
name: Contracture of the interphalangeal joint of the hallux
def: "The interphalangeal joint of the big toe cannot be straightened actively or passively." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023967
is_a: HP:0010212 ! Flexion contracture of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-06-02T01:45:34Z

[Term]
id: HP:0010215
name: Contractures of the metatarsophalangeal joint of the hallux
def: "The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023966
is_a: HP:0010212 ! Flexion contracture of the hallux
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-06-02T01:45:34Z

[Term]
id: HP:0010219
name: Structural foot deformity
def: "A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023965
is_a: HP:0001760 ! Abnormal foot morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-06-04T05:14:38Z

[Term]
id: HP:0010220
name: Abnormality of the epiphysis of the 2nd metacarpal
def: "Any abnormality of the epiphysis of the second metacarpal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the end part of the 2nd long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023964
is_a: HP:0010010 ! Abnormal 2nd metacarpal morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-02T04:07:33Z

[Term]
id: HP:0010221
name: obsolete Pseudoepiphysis of the 2nd metacarpal
is_obsolete: true
replaced_by: HP:0006179

[Term]
id: HP:0010222
name: Abnormal 3rd metacarpal epiphysis morphology
def: "Any abnormality of the epiphysis of the third metacarpal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the end part of the 3rd long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the epiphysis of the 3rd metacarpal" EXACT []
xref: UMLS:C4023962
is_a: HP:0010011 ! Abnormal 3rd metacarpal morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-02T04:10:28Z

[Term]
id: HP:0010223
name: Pseudoepiphysis of the 3rd metacarpal
def: "The normal epiphysis of the third metacarpal is localized at the distal end of the metacarpal bone. This term applies if an accessory epiphysis, located at the proximal end of the metacarpal bone, is present." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023961
is_a: HP:0009193 ! Metacarpal pseudoepiphysis
is_a: HP:0010222 ! Abnormal 3rd metacarpal epiphysis morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-02T04:10:52Z

[Term]
id: HP:0010224
name: Abnormal 4th metacarpal epiphysis morphology
def: "Any abnormality of the epiphysis of the 4th metacarpal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the end part of the 4th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the epiphysis of the 4th metacarpal" EXACT []
xref: UMLS:C4023960
is_a: HP:0010012 ! Abnormal 4th metacarpal morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-02T04:11:46Z

[Term]
id: HP:0010225
name: Pseudoepiphysis of the 4th metacarpal
def: "The normal epiphysis of the fourth metacarpal is localized at the distal end of the metacarpal bone. This term applies if an accessory epiphysis, located at the proximal end of the metacarpal bone, is present." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023959
is_a: HP:0009193 ! Metacarpal pseudoepiphysis
is_a: HP:0010224 ! Abnormal 4th metacarpal epiphysis morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-02T04:12:04Z

[Term]
id: HP:0010226
name: Abnormal 5th metacarpal epiphysis morphology
def: "Any abnormality of the epiphysis of the fifth metacarpal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the end part of the long bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the end part of the long bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the end part of the long bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the epiphysis of the 5th metacarpal" EXACT []
xref: UMLS:C4023958
is_a: HP:0010013 ! Abnormal 5th metacarpal morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-02T04:13:00Z

[Term]
id: HP:0010227
name: Pseudoepiphysis of the 5th metacarpal
def: "The normal epiphysis of the fifth metacarpal is localized at the distal end of the metacarpal bone. This term applies if an accessory epiphysis, located at the proximal end of the metacarpal bone, is present." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023957
is_a: HP:0009193 ! Metacarpal pseudoepiphysis
is_a: HP:0010226 ! Abnormal 5th metacarpal epiphysis morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-02T04:13:20Z

[Term]
id: HP:0010228
name: Absent epiphyses of the phalanges of the hand
alt_id: HP:0009359
def: "Absence of one or more epiphyses of the phalanges of the fingers." [https://orcid.org/0000-0002-5316-1399]
synonym: "Absent end part of fingers" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent epiphyses of the fingers" EXACT []
xref: UMLS:C4021310
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
is_a: HP:0010577 ! Absent epiphyses
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T03:31:52Z

[Term]
id: HP:0010229
name: Bracket epiphyses of the phalanges of the hand
alt_id: HP:0009360
def: "Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [https://orcid.org/0000-0002-0736-9199, PMID:24432108]
synonym: "Bracket epiphyses of the fingers" EXACT []
synonym: "Bracket shaped end part of finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021309
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
is_a: HP:0010578 ! Bracket epiphyses
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T03:31:52Z

[Term]
id: HP:0010230
name: Cone-shaped epiphyses of the phalanges of the hand
alt_id: HP:0001175
alt_id: HP:0001207
alt_id: HP:0001242
alt_id: HP:0003766
alt_id: HP:0005803
alt_id: HP:0009361
def: "A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cone-shaped end part of finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Cone-shaped epiphyses of hand" EXACT []
synonym: "Cone-shaped epiphyses of the fingers" EXACT []
synonym: "Coned epiphyses of hands" EXACT []
synonym: "Conical phalangeal epiphyses" EXACT []
xref: UMLS:C1859480
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
is_a: HP:0034281 ! Phalangeal cone-shaped epiphyses
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T03:31:52Z

[Term]
id: HP:0010231
name: Enlarged epiphyses of the phalanges of the hand
alt_id: HP:0006023
alt_id: HP:0009362
def: "Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlarged end part of finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Enlarged epiphyses of the fingers" EXACT []
synonym: "Enlarged phalangeal epiphyses" EXACT []
xref: UMLS:C1865036
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
is_a: HP:0010580 ! Enlarged epiphyses
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T03:31:52Z

[Term]
id: HP:0010232
name: Fragmentation of the epiphyses of the phalanges of the hand
alt_id: HP:0009363
def: "Fragmented appearance of the epiphyses of the phalanges of the fingers." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fragmentation of end part of finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Fragmentation of the epiphyses of the fingers" EXACT []
xref: UMLS:C4021308
is_a: HP:0003841 ! Fragmented epiphyses of the upper limbs
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T03:31:52Z

[Term]
id: HP:0010233
name: Irregular epiphyses of the phalanges of the hand
alt_id: HP:0009364
def: "Irregular radiographic opacity of the epiphyses of the phalanges of the fingers." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular end part of finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Irregular epiphyses of the fingers" EXACT []
xref: UMLS:C4021307
is_a: HP:0003842 ! Irregular epiphyses of the upper limbs
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T03:31:52Z

[Term]
id: HP:0010234
name: Ivory epiphyses of the phalanges of the hand
alt_id: HP:0001210
alt_id: HP:0009365
def: "Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased bone density of end part of the hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Ivory epiphyses of the fingers" EXACT []
synonym: "Sclerotic ivory phalangeal epiphyses" EXACT []
xref: UMLS:C1857651
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
is_a: HP:0010583 ! Ivory epiphyses
is_a: HP:0100899 ! Sclerosis of finger phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T03:31:52Z

[Term]
id: HP:0010235
name: Pseudoepiphyses of the phalanges of the hand
alt_id: HP:0009366
def: "A secondary ossification center in the phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Pseudoepiphysis of the fingers" EXACT []
xref: UMLS:C4021306
is_a: HP:0004288 ! Pseudoepiphyses of hand bones
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T03:31:52Z

[Term]
id: HP:0010236
name: Small epiphyses of the phalanges of the hand
alt_id: HP:0009367
def: "Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small end part of finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Small epiphyses of the fingers" EXACT []
xref: UMLS:C4021305
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
is_a: HP:0010585 ! Small epiphyses
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T03:31:52Z

[Term]
id: HP:0010237
name: Epiphyseal stippling of finger phalanges
alt_id: HP:0009368
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers." [https://orcid.org/0000-0002-0736-9199]
synonym: "Speckled calcifications in end part of finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Stippling of the epiphyses of the fingers" EXACT []
synonym: "Stippling of the epiphyses of the phalanges of the hand" EXACT []
xref: UMLS:C4021304
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
is_a: HP:0010655 ! Epiphyseal stippling
is_a: HP:0010660 ! Abnormal hand bone ossification
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T03:31:52Z

[Term]
id: HP:0010238
name: Triangular epiphyses of the phalanges of the hand
alt_id: HP:0009369
def: "A triangular appearance of the epiphyses of the phalanges of the fingers of the hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Delta-shaped epiphyses of the fingers" EXACT []
synonym: "Triangular end part of finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Triangular epiphyses of the fingers" EXACT []
xref: UMLS:C4021303
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
is_a: HP:0010587 ! Triangular epiphysis
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T03:31:52Z

[Term]
id: HP:0010239
name: Aplasia of the middle phalanx of the hand
alt_id: HP:0005778
def: "Absence of one or more middle phalanx of a finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent middle bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent middle phalanges" EXACT []
synonym: "Missing middle phalanges" EXACT []
xref: UMLS:C1862096
is_a: HP:0009380 ! Finger aplasia
is_a: HP:0009802 ! Aplasia of the phalanges of the hand
is_a: HP:0009843 ! Aplasia/Hypoplasia of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T03:59:39Z

[Term]
id: HP:0010241
name: Short proximal phalanx of finger
alt_id: HP:0005670
alt_id: HP:0006138
def: "Congenital hypoplasia of one or more proximal phalanx of finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplasia of the proximal phalanges of the hand" EXACT []
synonym: "Short innermost finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Short proximal phalanges" EXACT []
synonym: "Short proximal phalanx of finger" EXACT layperson []
synonym: "Shortening in proximal phalanges" EXACT []
xref: UMLS:C1860606
is_a: HP:0009381 ! Short finger
is_a: HP:0009803 ! Short phalanx of finger
is_a: HP:0009851 ! Aplasia/Hypoplasia of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:00:44Z

[Term]
id: HP:0010242
name: Aplasia of the proximal phalanges of the hand
alt_id: HP:0006102
synonym: "Absent innermost bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent proximal phalanges" EXACT []
xref: UMLS:C4021302
is_a: HP:0009380 ! Finger aplasia
is_a: HP:0009802 ! Aplasia of the phalanges of the hand
is_a: HP:0009851 ! Aplasia/Hypoplasia of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:01:02Z

[Term]
id: HP:0010243
name: Abnormality of the epiphyses of the distal phalanx of finger
def: "Any anomaly of distal epiphysis of phalanx of finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the end part of the outermost bone of finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023956
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:21:32Z

[Term]
id: HP:0010244
name: Abnormality of the epiphyses of the middle phalanges of the hand
synonym: "Abnormality of the end part of the middle hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023955
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:21:32Z

[Term]
id: HP:0010245
name: Abnormality of the epiphyses of the proximal phalanges of the hand
synonym: "Abnormality of the end part of the innermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023954
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:21:32Z

[Term]
id: HP:0010246
name: Absent epiphyses of the distal phalanges of the hand
synonym: "Absent end part of the outermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023953
is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand
is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:23:06Z

[Term]
id: HP:0010247
name: Bracket epiphyses of the distal phalanges of the hand
def: "An abnormality of the distal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [PMID:24432108]
synonym: "Bracket shaped end part of the outermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023952
is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand
is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:23:06Z

[Term]
id: HP:0010248
name: Cone-shaped epiphyses of the distal phalanges of the hand
synonym: "Cone-shaped end part of the outermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023951
is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand
is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:23:06Z

[Term]
id: HP:0010249
name: Enlarged epiphyses of the distal phalanges of the hand
synonym: "Enlarged end part of the outermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023950
is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand
is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:23:06Z

[Term]
id: HP:0010250
name: Fragmentation of the epiphyses of the distal phalanges of the hand
synonym: "Fragmentation of the end part of the outermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023949
is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand
is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:23:06Z

[Term]
id: HP:0010251
name: Irregular epiphyses of the distal phalanges of the hand
synonym: "Irregular end part of the outermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023948
is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand
is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:23:06Z

[Term]
id: HP:0010252
name: Ivory epiphyses of the distal phalanges of the hand
alt_id: HP:0006105
def: "Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Eburnated epiphyses of distal phalanges" EXACT []
synonym: "Increased bone density of end part of the outermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021301
is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand
is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger
is_a: HP:0100915 ! Sclerosis of distal finger phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:23:06Z

[Term]
id: HP:0010253
name: Pseudoepiphyses of the distal phalanges of the hand
def: "A secondary ossification center in the distal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." []
xref: UMLS:C4023947
is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand
is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:23:06Z

[Term]
id: HP:0010254
name: Small epiphyses of the distal phalanges of the hand
synonym: "Small end part of the outermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023946
is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand
is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:23:06Z

[Term]
id: HP:0010255
name: Stippling of the epiphyses of the distal phalanges of the hand
synonym: "Speckled calcifications in the end part of the outermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023945
is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges
is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:23:06Z

[Term]
id: HP:0010256
name: Triangular epiphyses of the distal phalanges of the hand
synonym: "Triangular end part of the outermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023944
is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand
is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:23:06Z

[Term]
id: HP:0010257
name: Absent epiphyses of the middle phalanges of the hand
synonym: "Absent end part of the middle hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023943
is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand
is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:24:15Z

[Term]
id: HP:0010258
name: Bracket epiphyses of the middle phalanges of the hand
def: "An abnormality of the middle phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [PMID:24432108]
synonym: "Bracket shaped end part of the middle hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023942
is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand
is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:24:15Z

[Term]
id: HP:0010259
name: Cone-shaped epiphyses of the middle phalanges of the hand
alt_id: HP:0006033
alt_id: HP:0006058
synonym: "Cone-shaped end part of the middle hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Cone-shaped epiphyses of middle phalanges" EXACT []
xref: UMLS:C1860828
is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand
is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:24:15Z

[Term]
id: HP:0010260
name: Enlarged epiphyses of the middle phalanges of the hand
synonym: "Enlarged end part of the middle hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023941
is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand
is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:24:15Z

[Term]
id: HP:0010261
name: Fragmentation of the epiphyses of the middle phalanges of the hand
def: "Fragmented appearance of the epiphyses of the middle phalanges of the hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fragmentation of the end part of the middle hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023940
is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand
is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:24:15Z

[Term]
id: HP:0010262
name: Irregular epiphyses of the middle phalanges of the hand
synonym: "Irregular end part of middle hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023939
is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand
is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:24:15Z

[Term]
id: HP:0010263
name: Ivory epiphyses of the middle phalanges of the hand
def: "Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased bone density of end part of the middle hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023938
is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand
is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand
is_a: HP:0100916 ! Sclerosis of middle finger phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:24:15Z

[Term]
id: HP:0010264
name: Pseudoepiphyses of the middle phalanges of the hand
def: "A secondary ossification center in the middle phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." []
xref: UMLS:C4023937
is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand
is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:24:15Z

[Term]
id: HP:0010265
name: Small epiphyses of the middle phalanges of the hand
synonym: "Small end part of the middle hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023936
is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand
is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:24:15Z

[Term]
id: HP:0010266
name: Stippling of the epiphyses of the middle phalanges of the hand
synonym: "Speckled calcifications in the end part of the middle hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023935
is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges
is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:24:15Z

[Term]
id: HP:0010267
name: Triangular epiphyses of the middle phalanges of the hand
synonym: "Triangular end part of the middle hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023934
is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand
is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:24:15Z

[Term]
id: HP:0010268
name: Absent epiphyses of the proximal phalanges of the hand
synonym: "Absent end part of the innermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023933
is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand
is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:25:12Z

[Term]
id: HP:0010269
name: Bracket epiphyses of the proximal phalanges of the hand
def: "An abnormality of the proximal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [https://orcid.org/0000-0001-7941-2961, PMID:24432108]
synonym: "Bracket shaped end part of the innermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023932
is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand
is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:25:12Z

[Term]
id: HP:0010270
name: Cone-shaped epiphyses of the proximal phalanges of the hand
synonym: "Cone-shaped end part of the innermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023931
is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand
is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:25:12Z

[Term]
id: HP:0010271
name: Enlarged epiphyses of the proximal phalanges of the hand
synonym: "Enlarged end part of the innermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023930
is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand
is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:25:12Z

[Term]
id: HP:0010272
name: Fragmentation of the epiphyses of the proximal phalanges of the hand
synonym: "Fragmentation of the end part of the innermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023929
is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand
is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:25:12Z

[Term]
id: HP:0010273
name: Irregular epiphyses of the proximal phalanges of the hand
synonym: "Irregular end part of the innermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023928
is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand
is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:25:12Z

[Term]
id: HP:0010274
name: Ivory epiphyses of the proximal phalanges of the hand
def: "Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased bone density of end part of the innermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023927
is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand
is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand
is_a: HP:0100917 ! Sclerosis of proximal finger phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:25:12Z

[Term]
id: HP:0010275
name: Pseudoepiphyses of the proximal phalanges of the hand
def: "A secondary ossification center in the proximal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023926
is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand
is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:25:12Z

[Term]
id: HP:0010276
name: Small epiphyses of the proximal phalanges of the hand
synonym: "Small end part of the innermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023925
is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand
is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:25:12Z

[Term]
id: HP:0010277
name: Stippling of the epiphyses of the proximal phalanges of the hand
synonym: "Speckled calcifications in the end part of the innermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023924
is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges
is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:25:12Z

[Term]
id: HP:0010278
name: Triangular epiphyses of the proximal phalanges of the hand
synonym: "Triangular end part of the innermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023923
is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand
is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-06T04:25:12Z

[Term]
id: HP:0010280
name: Stomatitis
def: "Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Gingivostomatitis" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Inflammation of the mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:20607006
xref: SNOMEDCT_US:61170000
xref: UMLS:C0038362
xref: UMLS:C0149704
is_a: HP:0011830 ! Abnormal oral mucosa morphology
is_a: HP:0012649 ! Increased inflammatory response
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T09:48:56Z

[Term]
id: HP:0010281
name: Cleft lower lip
def: "A gap in the lower lip." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Cleft lower lip" EXACT layperson []
synonym: "Cleft of the lower lip" EXACT layperson []
synonym: "Lower labial cleft" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1856026
is_a: HP:0000178 ! Abnormal lower lip morphology
is_a: HP:0410030 ! Cleft lip
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T09:50:34Z

[Term]
id: HP:0010282
name: Thin lower lip vermilion
def: "Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective)." [PMID:19125428]
comment: Normal values for the height of the vermilion are available [Farkas, 1981] but measurements are not commonly used. Most clinicians determine this feature subjectively. The height of the vermilion of the lower lip varies considerably among ethnic groups, and the vermilion should be compared to a population of same ethnic background. If the lower lip vermilion is thin, the inferior border of the vermilion is less curved, and on a profile view, the lower lip vermilion is less convex than usual.
synonym: "Decreased height of lower lip vermilion" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased volume of lower lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased volume of lower lip vermilion" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Thin lower lip" EXACT layperson []
synonym: "Thin red part of the lower lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thin vermilion border of lower lip" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C2053440
is_a: HP:0000178 ! Abnormal lower lip morphology
is_a: HP:0000233 ! Thin vermilion border
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T10:17:22Z

[Term]
id: HP:0010284
name: Intra-oral hyperpigmentation
def: "Increased pigmentation, either focal or generalized, of the mucosa of the mouth." [PMID:19125428]
comment: Pigmentation of alveolar ridges is common in people with dark skin pigmentation. This term encompasses a range of pigmentary findings, from freckles to generalized hyperpigmentation.
subset: hposlim_core
synonym: "Dark color of gums" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Dark colour of gums" NARROW uk_spelling []
synonym: "Gingival hyperpigmentation" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Gingival melanin pigmentation" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Hyperpigmentation of oral mucosa" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Oral mucosa melanin pigmentation" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Oral racial pigmentation" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Pigmented gums" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:235038002
xref: UMLS:C0399483
xref: UMLS:C0877541
xref: UMLS:C4280387
xref: UMLS:C4280388
xref: UMLS:C4280389
is_a: HP:0100669 ! Abnormal pigmentation of the oral mucosa
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T10:33:11Z

[Term]
id: HP:0010285
name: Oral synechia
def: "Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges." [PMID:19125428]
comment: These bands must be distinguished from synechiaee between the tongue and palate (glossopalatal ankylosis) and from synechiae arising from the floor of the mouth (as in the subglossopalatal membrane), oropharyngeal isthmus (as in persistent buccopharyngeal membrane) or from the lower lip. If there is a complete soft tissue contiguity between the upper and lower alveolar ridges, the term, Fibrous syngnathia should be used instead.
subset: hposlim_core
synonym: "Oral fibrous bands" BROAD []
synonym: "Synechiae of the mouth" EXACT []
xref: UMLS:C4023921
is_a: HP:0011830 ! Abnormal oral mucosa morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T10:37:03Z

[Term]
id: HP:0010286
name: Abnormal salivary gland morphology
def: "Any abnormality of the salivary glands, the exocrine glands that produce saliva." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the salivary glands" EXACT layperson []
synonym: "Salivary gland disease" RELATED layperson []
xref: SNOMEDCT_US:10890000
xref: UMLS:C0036093
xref: UMLS:C0149772
is_a: HP:0000163 ! Abnormal oral cavity morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T10:38:51Z

[Term]
id: HP:0010287
name: Abnormality of the submandibular glands
def: "Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the submaxillary glands" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023920
is_a: HP:0010286 ! Abnormal salivary gland morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T10:41:17Z

[Term]
id: HP:0010288
name: Abnormality of the sublingual glands
def: "Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023919
is_a: HP:0010286 ! Abnormal salivary gland morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T10:42:35Z

[Term]
id: HP:0010289
name: Cleft maxillary alveolar ridge
alt_id: HP:0410003
def: "A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine." [HPO_CONTRIBUTOR:mengelstad, https://orcid.org/0000-0002-0736-9199]
comment: The palate develops from the frontonasal and maxillary prominences between 4 and 12 weeks of gestation. During gestational weeks 4 to 7, the primary palate originates from the median palatine process, which itself originated from frontonasal prominence. The lip, alveolus, and hard palate anterior to the incisive foramen all share this origin in development. During this period, disruptions of palatal development process can result in primary palate clefting. The secondary palate develops from the lateral palatine processes originating from the maxillary prominences between 7 and 12 weeks, and the hard palate posterior to incisive foramen and the soft palate are developmental products of this process. As such, disruptions during this time will result in secondary palate clefts. The alveolus is a component of the primary palate, and alveolar cleft results from mal-development of the frontonasal prominence. As such, it is most closely related to cleft lip and cleft palate. Generally, alveolar clefts are located between the lateral incisor and canine.
subset: hposlim_core
synonym: "Alveolar cleft" EXACT []
synonym: "Alveolar ridge cleft" EXACT []
synonym: "Cleft anterior maxilla" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Cleft maxillary alveolus" EXACT []
synonym: "Cleft of alveolar process" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Cleft of alveolar ridge of maxilla" EXACT []
synonym: "Cleft of gum ridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Notch of alveolar process" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Notch of alveolar ridge" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Notch of gum ridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:445306000
xref: UMLS:C1398533
xref: UMLS:C2919907
xref: UMLS:C4280386
is_a: HP:0000202 ! Orofacial cleft
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T10:47:29Z

[Term]
id: HP:0010290
name: Short hard palate
def: "Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective)." [PMID:19125428]
comment: Objective measurement of the hard palate requires special instrumentation [Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers]. A short hard palate may be associated with velopharyngeal incompetence.
synonym: "Decreased length of hard palate" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplastic palate" RELATED []
synonym: "Short palate" RELATED []
xref: UMLS:C1398301
xref: UMLS:C4020772
xref: UMLS:C4023918
is_a: HP:0100737 ! Abnormal hard palate morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T11:28:44Z

[Term]
id: HP:0010291
name: Prominent palatine ridges
def: "Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge." [PMID:19125428]
comment: Soft tissue folds are typically present on the lateral sides of the palate, especially anteriorly.
subset: hposlim_core
synonym: "Large lateral palatal folds" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Large lateral palatal ridges" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Prominent lateral palatal folds" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Prominent lateral palatal ridges" EXACT []
synonym: "Prominent palatine folds" EXACT []
xref: UMLS:C4021300
is_a: HP:0000174 ! Abnormal palate morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T11:33:40Z

[Term]
id: HP:0010292
name: Absent uvula
def: "Lack of the uvula." [PMID:19125428]
comment: Sometimes accompanies a Submucous cleft palate, but this should be coded separately.
subset: hposlim_core
synonym: "Absent palatine uvula" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Agenesis of uvula" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Congenital absence of uvula" EXACT []
synonym: "Missing uvula" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Uvula aplasia" EXACT []
xref: SNOMEDCT_US:25148007
xref: UMLS:C0266121
is_a: HP:0010293 ! Aplasia/Hypoplasia of the uvula
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T11:36:21Z

[Term]
id: HP:0010293
name: Aplasia/Hypoplasia of the uvula
def: "Underdevelopment or absence of the uvula." [https://orcid.org/0000-0002-0736-9199]
synonym: "Aplasia/hypoplasia of palatine uvula" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023917
is_a: HP:0000172 ! Abnormal uvula morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T11:36:52Z

[Term]
id: HP:0010294
name: Palate fistula
def: "A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hole in roof of mouth" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Palatal hole" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Palatal perforation" BROAD [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C2032780
xref: UMLS:C4280385
is_a: HP:0000174 ! Abnormal palate morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T11:39:52Z

[Term]
id: HP:0010295
name: Aplasia/Hypoplasia of the tongue
def: "Absence or underdevelopment of the tongue." [https://orcid.org/0000-0002-0736-9199]
synonym: "Lingual aplasia/hypoplasia" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023916
xref: UMLS:C4280384
is_a: HP:0030809 ! Abnormal tongue morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T11:41:04Z

[Term]
id: HP:0010296
name: Ankyloglossia
def: "Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue." [PMID:19125428]
comment: The anterior third of the tongue is usually free or is partially attached to the floor of the mouth by the lingual frenulum. There is a spectrum ranging from fusion of the tongue to the floor of the mouth (ankyloglossia inferiorum) to a lingual frenulum that is short or anchored toward the tip of the tongue (sometimes called tongue tie). Ankyloglossia may be associated with a mild indentation of the tip of the tongue, which should not be coded as a Bifid tongue.
synonym: "Tongue tie" RELATED []
synonym: "Tongue tied" EXACT layperson []
xref: SNOMEDCT_US:67787004
xref: UMLS:C0152415
is_a: HP:0000190 ! Abnormal oral frenulum morphology
is_a: HP:0030809 ! Abnormal tongue morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T11:44:22Z

[Term]
id: HP:0010297
name: Bifid tongue
def: "Tongue with a median apical indentation or fork." [PMID:19125428]
comment: Bifid tongue can be associated with ankyloglossia, but this should be assessed and coded separately. Small indentations of the tip of the tongue should not be coded as a bifid tongue.
subset: hposlim_core
synonym: "Bifurcated tongue" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Bilobed tongue" EXACT []
synonym: "Cleft tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Forked tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Snake tongue" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Split tongue" EXACT layperson []
xref: SNOMEDCT_US:84557007
xref: UMLS:C0266111
xref: UMLS:C4255098
is_a: HP:0030809 ! Abnormal tongue morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T11:47:28Z

[Term]
id: HP:0010298
name: Smooth tongue
def: "Glossy appearance of the entire tongue surface." [PMID:19125428]
comment: This is due to reduction in number and/or size of the filiform papillae. A geographic tongue has localized areas of smoothening, but not sufficient to warrant use of the term Smooth tongue.
subset: hposlim_core
synonym: "Atrophy of dorsum of tongue" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Atrophy of lingual surface" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Atrophy of tongue surface" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Smooth dorsum of tongue" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Smooth lingual surface" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Smooth surface of tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Smooth tongue" EXACT layperson []
xref: SNOMEDCT_US:9491003
xref: UMLS:C0155964
xref: UMLS:C4280381
xref: UMLS:C4280382
xref: UMLS:C4280383
is_a: HP:0030809 ! Abnormal tongue morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T11:58:17Z

[Term]
id: HP:0010299
name: Abnormal dentin morphology
def: "Any abnormality of dentin." [https://orcid.org/0000-0002-0736-9199]
comment: Dentin is a calcified tissue of teeth that is covered by enamel on the crown and cementum on the root and surrounds the entire pulp.
subset: hposlim_core
synonym: "Abnormal dentin" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Abnormality of dentin" EXACT layperson []
synonym: "Abnormality of dentine" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Dentin anomaly" EXACT []
xref: UMLS:C4021299
is_a: HP:0011061 ! Abnormality of dental structure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T12:11:14Z

[Term]
id: HP:0010300
name: Abnormally low-pitched voice
def: "A persistent (minutes to hours) abnormal decrease in the pitch of the voice for the context or social situation or significantly different from the baseline of the individual." []
synonym: "Low pitched voice" EXACT []
synonym: "Low-pitched voice" EXACT []
xref: UMLS:C4023915
is_a: HP:5200005 ! Abnormal pitch
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-2592-4715
property_value: terms:contributor https://orcid.org/0000-0002-9593-5508
property_value: terms:contributor https://orcid.org/0000-0003-3777-1389
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T12:19:22Z

[Term]
id: HP:0010301
name: Spinal dysraphism
def: "A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life." [https://orcid.org/0000-0002-0736-9199]
comment: Spinal dysraphism, or neural tube defect comprises a heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life and anomalous development of the caudal cell mass. The anatomic features common to the entire group is an anomaly in the midline structures of the back, especially the absence of some of the neural arches, and defects of the skin, filum terminale, nerves, and spinal cord. Open forms of spinal dysraphism include myelocele, meningocele, and myelomeningocele. These open forms are often associated with hydrocephalus and Arnold-Chiari malformation type II and may be classified as spina bifida aperta. Closed forms of spinal dysraphism include spina bifida occulta.
synonym: "Incomplete closure of the vertebral arch" EXACT [https://orcid.org/0009-0006-4530-3154]
xref: SNOMEDCT_US:253098009
xref: UMLS:C0027794
is_a: HP:0002143 ! Abnormal spinal cord morphology
is_a: HP:0045005 ! Neural tube defect
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T12:58:04Z

[Term]
id: HP:0010302
name: Spinal cord tumor
alt_id: HP:0009712
def: "A neoplasm affecting the spinal cord." [https://orcid.org/0000-0002-0736-9199]
synonym: "Spinal cord tumor" EXACT layperson []
synonym: "Spinal cord tumour" EXACT uk_spelling []
synonym: "Spinal tumor" RELATED layperson []
synonym: "Spinal tumors" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Spinal tumour" RELATED uk_spelling []
synonym: "Spinal tumours" RELATED uk_spelling []
synonym: "Tumor of the spinal cord" EXACT layperson []
synonym: "Tumour of the spinal cord" EXACT uk_spelling []
xref: NCIT:C3262
xref: SNOMEDCT_US:126962006
xref: UMLS:C0037930
is_a: HP:0002143 ! Abnormal spinal cord morphology
is_a: HP:0100006 ! Neoplasm of the central nervous system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T01:05:50Z

[Term]
id: HP:0010303
name: Abnormal spinal meningeal morphology
def: "Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the spinal meninges" EXACT []
xref: UMLS:C4023914
is_a: HP:0002143 ! Abnormal spinal cord morphology
is_a: HP:0010651 ! Abnormal meningeal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T01:10:09Z

[Term]
id: HP:0010304
name: Spinal meningeal diverticulum
def: "An outpouching of the spinal meninges." [https://orcid.org/0000-0002-0736-9199]
synonym: "Spinal meningeal diverticula" EXACT plural_form []
xref: UMLS:C4023913
is_a: HP:0010303 ! Abnormal spinal meningeal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T01:11:53Z

[Term]
id: HP:0010305
name: Absence of the sacrum
def: "Absence (aplasia) of the sacrum." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Absent sacrum" EXACT []
synonym: "Sacral agenesis" EXACT []
synonym: "Sacrococcygeal agenesis" BROAD []
xref: SNOMEDCT_US:205425003
xref: UMLS:C0344490
is_a: HP:0008517 ! Aplasia/Hypoplasia of the sacrum
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T01:13:26Z

[Term]
id: HP:0010306
name: Short thorax
def: "Reduced inferior to superior extent of the thorax." [https://orcid.org/0000-0002-0736-9199]
synonym: "Shorter than typical length between neck and abdomen" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:249670005
xref: UMLS:C0426789
is_a: HP:0000765 ! Abnormal thorax morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T02:13:42Z

[Term]
id: HP:0010307
name: Stridor
def: "Stridor is a high pitched sound resulting from turbulent air flow in the upper airway." [https://orcid.org/0000-0002-0736-9199, PMID:26229557]
comment: Stridor is different from wheezing by the following reasons. It is louder over the neck than chest wall. Secondly; stridor is mainly inspiratory. If occurs in expiration, it is usually biphasic. On the other hand; wheeze is mainly expiratory and occurs during both phases. It indicates extrathoracic upper-airway obstruction (supraglottic lesions like laryngomalacia, vocal cord lesion) when heard on inspiration. It occurs in expiration if associated with intrathoracic tracheobronchial lesions (tracheomalacia, bronchomalacia, and extrinsic compression). It occurs in both phases if lesion is fixed, for example, stenosis. Stridor is caused by the turbulent flow passing through a narrowed segment of the upper respiratory tract.
synonym: "Noisy breathing" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:248573009
xref: SNOMEDCT_US:70407001
xref: UMLS:C0038450
xref: UMLS:C0237304
is_a: HP:0030829 ! Abnormal breath sound
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T02:16:48Z

[Term]
id: HP:0010308
name: Asternia
def: "The congenital absence of the sternum." [https://orcid.org/0000-0002-0736-9199, PMID:3424262]
synonym: "Aplasia of the sternum" EXACT []
synonym: "Breast bone aplasia" EXACT []
xref: UMLS:C4023912
is_a: HP:0006714 ! Aplasia/Hypoplasia of the sternum
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T02:21:46Z

[Term]
id: HP:0010309
name: Bifid sternum
def: "The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum." [https://orcid.org/0000-0002-0736-9199]
comment: Various degrees of bifid sternum may occur, varying from an enlarged suprasternal notch to complete separation of the two halves of the sternum. Ectopia cordis may or may not accompany this defect in its more severe form.
subset: hposlim_core
synonym: "Sternal cleft" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:54008006
xref: UMLS:C0265696
is_a: HP:0000766 ! Abnormal sternum morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T02:23:18Z

[Term]
id: HP:0010310
name: Chylothorax
def: "Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:83035003
xref: UMLS:C0008733
is_a: HP:0002202 ! Pleural effusion
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T02:30:05Z

[Term]
id: HP:0010311
name: Aplasia/Hypoplasia of the breasts
def: "Absence or underdevelopment of the breasts." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small breasts" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped breasts" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023911
is_a: HP:0031093 ! Abnormal breast morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T02:31:49Z

[Term]
id: HP:0010312
name: Asymmetry of the breasts
def: "The presence of asymmetrical breasts." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
xref: UMLS:C1854013
is_a: HP:0031093 ! Abnormal breast morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T02:32:46Z

[Term]
id: HP:0010313
name: Breast hypertrophy
def: "The presence of hypertrophy of the breast." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Breast enlargement" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Breasts enlarged" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Gigantomastia" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Hypertrophy of the breasts" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Large breast" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Macromastia" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:372281005
xref: SNOMEDCT_US:372283008
xref: SNOMEDCT_US:372285001
xref: UMLS:C0020565
xref: UMLS:C0392533
xref: UMLS:C2225524
is_a: HP:0031093 ! Abnormal breast morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T02:34:30Z

[Term]
id: HP:0010314
name: Premature thelarche
def: "Premature development of the breasts." [https://orcid.org/0000-0002-0736-9199]
synonym: "Premature breast development" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:102889008
xref: UMLS:C0425772
is_a: HP:0000826 ! Precocious puberty
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T02:36:24Z

[Term]
id: HP:0010315
name: Aplasia/Hypoplasia of the diaphragm
def: "Absence or underdevelopment of the diaphragm." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small diaprhagm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped diaprhagm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023910
is_a: HP:0000775 ! Abnormality of the diaphragm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-12T02:41:58Z

[Term]
id: HP:0010316
name: Ebstein anomaly of the tricuspid valve
alt_id: HP:0006674
def: "Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
comment: Ebstein's anomaly is often associated with a hypoplastic right ventricle, patent foramen ovale, and a degree of cyanosis dependent on the amount if inadequacy of the tricuspid valve. Ebstein's anomaly may be associated with Wolf-Parkinson-White syndrome or other arrythmias.
synonym: "Ebstein's anomaly" EXACT []
synonym: "Ebstein's anomaly of the tricuspid valve" EXACT []
synonym: "Ebstein's malformation" EXACT []
xref: EPCC:06.01.34
xref: ICD-10:Q22.5
xref: SNOMEDCT_US:204357006
xref: UMLS:C0013481
is_a: HP:0001702 ! Abnormal tricuspid valve morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-14T11:12:07Z

[Term]
id: HP:0010317
name: Scapular aplasia
def: "Absence of the scapulae." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Absent scapula" EXACT []
synonym: "Absent shoulder blade" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021298
is_a: HP:0006713 ! Aplasia/Hypoplasia of the scapulae
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-14T11:40:24Z

[Term]
id: HP:0010318
name: Aplasia/Hypoplasia of the abdominal wall musculature
def: "Absence or underdevelopment of the abdominal musculature." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small abdominal wall muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped abdominal wall muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023909
is_a: HP:0010991 ! Abnormal morphology of the abdominal musculature
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-07-14T11:51:46Z

[Term]
id: HP:0010319
name: Abnormal second toe morphology
def: "An anomaly of the second toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal 2nd toe morphology" EXACT []
synonym: "Abnormality of the 2nd toe" EXACT []
xref: UMLS:C4023908
is_a: HP:0001780 ! Abnormal toe morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:37:12Z

[Term]
id: HP:0010320
name: Abnormal third toe morphology
def: "An anomaly of the third toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal 3rd toe morphology" EXACT []
synonym: "Abnormality of the 3rd toe" EXACT layperson []
xref: UMLS:C4023907
is_a: HP:0001780 ! Abnormal toe morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:37:12Z

[Term]
id: HP:0010321
name: Abnormal fourth toe morphology
def: "An anomaly of the fourth toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal 4th toe morphology" EXACT []
synonym: "Abnormality of the 4th toe" EXACT layperson []
xref: UMLS:C4023906
is_a: HP:0001780 ! Abnormal toe morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:37:12Z

[Term]
id: HP:0010322
name: Abnormal fifth toe morphology
def: "An anomaly of the little toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal 5th toe morphology" EXACT []
synonym: "Abnormality of the 5th toe" EXACT []
synonym: "Abnormality of the little toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the pinkie toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the pinky toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023905
is_a: HP:0001780 ! Abnormal toe morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:37:12Z

[Term]
id: HP:0010323
name: Abnormality of the epiphyses of the 2nd toe
synonym: "Abnormality of the end part of the 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023904
is_a: HP:0010160 ! Abnormal toe epiphysis morphology
is_a: HP:0010319 ! Abnormal second toe morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:40:18Z

[Term]
id: HP:0010324
name: Abnormal morphology of phalanx of the 2nd toe
def: "An anomaly of a phalanx of second toe." [https://orcid.org/0009-0006-4530-3154]
synonym: "Abnormality of the 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023903
is_a: HP:0010161 ! Abnormal toe phalanx morphology
is_a: HP:0010319 ! Abnormal second toe morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:40:18Z

[Term]
id: HP:0010325
name: Aplasia/Hypoplasia of the 2nd toe
synonym: "Absent/small 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023902
is_a: HP:0010319 ! Abnormal second toe morphology
is_a: HP:0010760 ! Absent toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:40:18Z

[Term]
id: HP:0010326
name: Deviation of the 2nd toe
synonym: "Displacement of the 2nd toe" EXACT layperson []
xref: UMLS:C4021297
is_a: HP:0010319 ! Abnormal second toe morphology
is_a: HP:0100498 ! Deviation of toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:40:18Z

[Term]
id: HP:0010327
name: Flexion contracture of the 2nd toe
def: "One or more bent (flexed) joints of the second toe that cannot be straightened actively or passively." [https://orcid.org/0000-0002-0736-9199]
synonym: "Joint contractures of the 2nd toe" EXACT []
xref: UMLS:C4021296
is_a: HP:0005830 ! Flexion contracture of toe
is_a: HP:0010319 ! Abnormal second toe morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:40:18Z

[Term]
id: HP:0010328
name: Polydactyly affecting the 2nd toe
xref: UMLS:C4023901
is_a: HP:0010112 ! Mesoaxial foot polydactyly
is_a: HP:0010319 ! Abnormal second toe morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:40:18Z

[Term]
id: HP:0010329
name: Abnormality of the epiphyses of the 3rd toe
synonym: "Abnormality of the end part of the 3rd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023900
is_a: HP:0010160 ! Abnormal toe epiphysis morphology
is_a: HP:0010320 ! Abnormal third toe morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:40:52Z

[Term]
id: HP:0010330
name: Abnormality of the phalanges of the 3rd toe
synonym: "Abnormality of the bones of the 3rd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023899
is_a: HP:0010161 ! Abnormal toe phalanx morphology
is_a: HP:0010320 ! Abnormal third toe morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:40:52Z

[Term]
id: HP:0010331
name: Aplasia/Hypoplasia of the 3rd toe
alt_id: HP:0008100
synonym: "Absent/hypoplastic third toe" EXACT []
synonym: "Absent/small 3rd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped 3rd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1862698
is_a: HP:0010320 ! Abnormal third toe morphology
is_a: HP:0010760 ! Absent toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:40:52Z

[Term]
id: HP:0010332
name: Deviation of the 3rd toe
synonym: "Displacement of the 3rd toe" EXACT layperson []
xref: UMLS:C4021295
is_a: HP:0010320 ! Abnormal third toe morphology
is_a: HP:0100498 ! Deviation of toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:40:52Z

[Term]
id: HP:0010333
name: Flexion contracture of 3rd toe
def: "One or more bent (flexed) joints of the third toe that cannot be straightened actively or passively." [https://orcid.org/0000-0002-0736-9199]
synonym: "Joint contractures of the 3rd toe" EXACT []
xref: UMLS:C4021294
is_a: HP:0005830 ! Flexion contracture of toe
is_a: HP:0010320 ! Abnormal third toe morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:40:52Z

[Term]
id: HP:0010334
name: Polydactyly affecting the 3rd toe
xref: UMLS:C4023898
is_a: HP:0010112 ! Mesoaxial foot polydactyly
is_a: HP:0010320 ! Abnormal third toe morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:40:52Z

[Term]
id: HP:0010335
name: Abnormality of the epiphyses of the 4th toe
synonym: "Abnormality of the end part of the 4th toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023897
is_a: HP:0010160 ! Abnormal toe epiphysis morphology
is_a: HP:0010321 ! Abnormal fourth toe morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:41:21Z

[Term]
id: HP:0010336
name: Abnormality of the phalanges of the 4th toe
xref: UMLS:C4023896
is_a: HP:0010161 ! Abnormal toe phalanx morphology
is_a: HP:0010321 ! Abnormal fourth toe morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:41:21Z

[Term]
id: HP:0010337
name: Aplasia/Hypoplasia of the 4th toe
synonym: "Absent/small 4th toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped 4th toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023895
is_a: HP:0010321 ! Abnormal fourth toe morphology
is_a: HP:0010760 ! Absent toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:41:21Z

[Term]
id: HP:0010338
name: Deviation of the 4th toe
synonym: "Displacement of the 4th toe" EXACT []
xref: UMLS:C4021293
is_a: HP:0010321 ! Abnormal fourth toe morphology
is_a: HP:0100498 ! Deviation of toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:41:21Z

[Term]
id: HP:0010339
name: Flexion contracture of the 4th toe
def: "One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively." [https://orcid.org/0000-0002-0736-9199]
synonym: "Joint contractures of the 4th toe" EXACT []
xref: UMLS:C4021292
is_a: HP:0005830 ! Flexion contracture of toe
is_a: HP:0010321 ! Abnormal fourth toe morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:41:21Z

[Term]
id: HP:0010340
name: Polydactyly affecting the 4th toe
xref: UMLS:C4023894
is_a: HP:0010112 ! Mesoaxial foot polydactyly
is_a: HP:0010321 ! Abnormal fourth toe morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:41:21Z

[Term]
id: HP:0010341
name: Abnormality of the epiphyses of the 5th toe
synonym: "Abnormality of the end part of the little toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the end part of the pinkie toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the end part of the pinky toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023893
is_a: HP:0010160 ! Abnormal toe epiphysis morphology
is_a: HP:0010322 ! Abnormal fifth toe morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:41:49Z

[Term]
id: HP:0010342
name: Abnormality of the phalanges of the 5th toe
synonym: "Abnormality of the little toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the pinkie toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the pinky toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023892
is_a: HP:0010161 ! Abnormal toe phalanx morphology
is_a: HP:0010322 ! Abnormal fifth toe morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:41:49Z

[Term]
id: HP:0010343
name: Aplasia/Hypoplasia of the 5th toe
synonym: "Absent/small little toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/small pinkie toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/small pinky toe" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped pinky toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023891
is_a: HP:0010322 ! Abnormal fifth toe morphology
is_a: HP:0010760 ! Absent toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:41:49Z

[Term]
id: HP:0010344
name: Deviation of the 5th toe
synonym: "Displacement of the 5th toe" EXACT []
synonym: "Displacement of the little toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Displacement of the pinkie toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Displacement of the pinky toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021291
is_a: HP:0010322 ! Abnormal fifth toe morphology
is_a: HP:0100498 ! Deviation of toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:41:49Z

[Term]
id: HP:0010345
name: Flexion contracture of the 5th toe
def: "One or more bent (flexed) joints of the fifth toe that cannot be straightened actively or passively." [https://orcid.org/0000-0002-0736-9199]
synonym: "Joint contractures of the 5th toe" EXACT layperson []
xref: UMLS:C4021290
is_a: HP:0005830 ! Flexion contracture of toe
is_a: HP:0010322 ! Abnormal fifth toe morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:41:49Z

[Term]
id: HP:0010347
name: Aplasia/Hypoplasia of the phalanges of the 2nd toe
synonym: "Absent/small bones of 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped bones of 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023890
is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes
is_a: HP:0010324 ! Abnormal morphology of phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:45:34Z

[Term]
id: HP:0010348
name: Broad phalanges of the 2nd toe
synonym: "Broad bones of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023889
is_a: HP:0010174 ! Broad phalanx of the toes
is_a: HP:0010324 ! Abnormal morphology of phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:45:34Z

[Term]
id: HP:0010349
name: Bullet-shaped 2nd toe phalanx
def: "An abnormal morphology of one or more phalanges of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped bones of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Bullet-shaped phalanges of the 2nd toe" EXACT []
xref: UMLS:C4021289
is_a: HP:0010175 ! Bullet-shaped toe phalanx
is_a: HP:0010324 ! Abnormal morphology of phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:45:34Z

[Term]
id: HP:0010350
name: Curved 2nd toe phalanx
def: "A deviation from the normal straight form of one or more phalanges of the second toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curved bones of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Curved phalanges of the 2nd toe" EXACT layperson []
xref: UMLS:C4021288
is_a: HP:0010176 ! Curved toe phalanx
is_a: HP:0010324 ! Abnormal morphology of phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:45:34Z

[Term]
id: HP:0010351
name: Osteolytic defects of the phalanges of the 2nd toe
xref: UMLS:C4023888
is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes
is_a: HP:0010324 ! Abnormal morphology of phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:45:34Z

[Term]
id: HP:0010352
name: Patchy sclerosis of 2nd toe phalanx
def: "Patchy (irregular) increase in bone density of one or more of the phalanges of the second toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [https://orcid.org/0000-0002-0736-9199]
synonym: "Patchy sclerosis of the phalanges of the 2nd toe" EXACT []
synonym: "Uneven increase in bone density in 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021287
is_a: HP:0010178 ! Patchy sclerosis of toe phalanx
is_a: HP:0010324 ! Abnormal morphology of phalanx of the 2nd toe
is_a: HP:0100926 ! Sclerosis of 2nd toe phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:45:34Z

[Term]
id: HP:0010353
name: Second toe symphalangism
def: "Fusion of the interphalangeal joints of the 2nd toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "2nd toe symphalangism" EXACT []
synonym: "Fused bones of 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Symphalangism affecting the phalanges of the 2nd toe" EXACT []
xref: UMLS:C4023887
is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes
is_a: HP:0010324 ! Abnormal morphology of phalanx of the 2nd toe
is_a: HP:0100235 ! Synostosis involving bones of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:45:34Z

[Term]
id: HP:0010354
name: Triangular shaped phalanges of the 2nd toe
synonym: "Triangular shaped bone of 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Triangular shaped bone of second toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023886
is_a: HP:0010180 ! Triangular shaped phalanges of the toes
is_a: HP:0010324 ! Abnormal morphology of phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:45:34Z

[Term]
id: HP:0010355
name: Duplication of the phalanges of the 2nd toe
def: "Partial or complete duplication of a phalanx of second toe." [https://orcid.org/0009-0006-4530-3154]
synonym: "Duplication of the bones of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial/complete duplication of the phalanges of the 2nd toe" EXACT []
xref: UMLS:C4021286
is_a: HP:0010181 ! Duplication of phalanx of toe
is_a: HP:0010324 ! Abnormal morphology of phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:45:34Z

[Term]
id: HP:0010356
name: Abnormality of the distal phalanx of the 2nd toe
synonym: "Abnormality of the outermost bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023885
is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes
is_a: HP:0010324 ! Abnormal morphology of phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:45:34Z

[Term]
id: HP:0010357
name: Abnormality of the middle phalanx of the 2nd toe
synonym: "Abnormality of the middle bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023884
is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes
is_a: HP:0010324 ! Abnormal morphology of phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:45:34Z

[Term]
id: HP:0010358
name: Abnormal morphology of the proximal phalanx of the 2nd toe
synonym: "Abnormality of the innermost bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023883
is_a: HP:0010184 ! Abnormality of toe proximal phalanx
is_a: HP:0010324 ! Abnormal morphology of phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:45:34Z

[Term]
id: HP:0010359
name: Aplasia/Hypoplasia of the phalanges of the 3rd toe
synonym: "Absent/small bones of 3rd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped bones of 3rd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023882
is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes
is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:51:17Z

[Term]
id: HP:0010360
name: Broad phalanges of the 3rd toe
synonym: "Wide bones of 3rd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023881
is_a: HP:0010174 ! Broad phalanx of the toes
is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:51:17Z

[Term]
id: HP:0010361
name: Bullet-shaped 3rd toe phalanx
def: "An abnormal morphology of one or more phalanges of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped bones of 3rd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Bullet-shaped phalanges of the 3rd toe" EXACT []
xref: UMLS:C4021285
is_a: HP:0010175 ! Bullet-shaped toe phalanx
is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:51:17Z

[Term]
id: HP:0010362
name: Curved 3rd toe phalanx
def: "A deviation from the normal straight form of one or more phalanges of the third toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curved bones of 3rd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Curved phalanges of the 3rd toe" EXACT layperson []
xref: UMLS:C4021284
is_a: HP:0010176 ! Curved toe phalanx
is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:51:17Z

[Term]
id: HP:0010363
name: Osteolytic defects of the phalanges of the 3rd toe
xref: UMLS:C4021825
is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes
is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:51:17Z

[Term]
id: HP:0010364
name: Patchy sclerosis of 3rd toe phalanx
def: "Patchy (irregular) increase in bone density of one or more of the phalanges of the third toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [https://orcid.org/0000-0002-0736-9199]
synonym: "Patchy sclerosis of the phalanges of the 3rd toe" EXACT []
synonym: "Uneven increase in bone density in 3rd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021283
is_a: HP:0010178 ! Patchy sclerosis of toe phalanx
is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe
is_a: HP:0100927 ! Sclerosis of 3rd toe phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:51:17Z

[Term]
id: HP:0010365
name: Symphalangism affecting the phalanges of the 3rd toe
synonym: "Fused bones of 3rd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023880
is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes
is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe
is_a: HP:0100235 ! Synostosis involving bones of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:51:17Z

[Term]
id: HP:0010366
name: Triangular shaped phalanges of the 3rd toe
synonym: "Triangular shaped 3rd toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023879
is_a: HP:0010180 ! Triangular shaped phalanges of the toes
is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:51:17Z

[Term]
id: HP:0010367
name: Duplication of phalanx of the 3rd toe
def: "Partial or complete duplication of phalanx of third toe." [https://orcid.org/0009-0006-4530-3154]
synonym: "Duplication of 3rd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Duplication of phalanx of the third toe" EXACT []
synonym: "Partial/complete duplication of the phalanges of the 3rd toe" EXACT []
xref: UMLS:C4021282
is_a: HP:0010181 ! Duplication of phalanx of toe
is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:51:17Z

[Term]
id: HP:0010368
name: Abnormality of the distal phalanx of the 3rd toe
synonym: "Abnormality of the outermost bone of the 3rd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023878
is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes
is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:51:17Z

[Term]
id: HP:0010369
name: Abnormality of the middle phalanx of the 3rd toe
synonym: "Abnormality of the middle bone of 3rd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023877
is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes
is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:51:17Z

[Term]
id: HP:0010370
name: Abnormal morphology of the proximal phalanx of the 3rd toe
def: "An anomaly of the proximal phalanx of third toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the innermost bone of 3rd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023876
is_a: HP:0010184 ! Abnormality of toe proximal phalanx
is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:51:17Z

[Term]
id: HP:0010371
name: Aplasia/Hypoplasia of the phalanges of the 4th toe
synonym: "Absent/small bones of 4th toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped bones of 4th toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023875
is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes
is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:51:46Z

[Term]
id: HP:0010372
name: Broad phalanges of the 4th toe
synonym: "Broad bones of the 4th toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023874
is_a: HP:0010174 ! Broad phalanx of the toes
is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:51:46Z

[Term]
id: HP:0010373
name: Bullet-shaped 4th toe phalanx
def: "An abnormal morphology of one or more phalanges of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped bones of the 4th toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Bullet-shaped phalanges of the 4th toe" EXACT []
xref: UMLS:C4021281
is_a: HP:0010175 ! Bullet-shaped toe phalanx
is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:51:46Z

[Term]
id: HP:0010374
name: Curved 4th toe phalanx
def: "A deviation from the normal straight form of one or more phalanges of the fourth toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curved bones of 4th toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Curved phalanges of the 4th toe" EXACT []
xref: UMLS:C4021280
is_a: HP:0010176 ! Curved toe phalanx
is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:51:46Z

[Term]
id: HP:0010375
name: Osteolytic defects of the phalanges of the 4th toe
xref: UMLS:C4023873
is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes
is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:51:46Z

[Term]
id: HP:0010376
name: Patchy sclerosis of 4th toe phalanx
def: "Patchy (irregular) increase in bone density of one or more of the phalanges of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [https://orcid.org/0000-0002-0736-9199]
synonym: "Patchy sclerosis of the phalanges of the 4th toe" EXACT layperson []
synonym: "Uneven increase in bone density in 4th toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021279
is_a: HP:0010178 ! Patchy sclerosis of toe phalanx
is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe
is_a: HP:0100928 ! Sclerosis of 4th toe phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:51:46Z

[Term]
id: HP:0010377
name: Symphalangism affecting the phalanges of the 4th toe
synonym: "Fused bones of 4th toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023872
is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes
is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe
is_a: HP:0100235 ! Synostosis involving bones of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:51:46Z

[Term]
id: HP:0010378
name: Triangular shaped phalanges of the 4th toe
synonym: "Triangular shaped bones of 4th toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023871
is_a: HP:0010180 ! Triangular shaped phalanges of the toes
is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:51:46Z

[Term]
id: HP:0010379
name: Duplication of phalanx of the 4th toe
def: "Partial or complete duplication of phalanx of fourth toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Duplication of 4th toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Duplication of phalanx of the fourth toe" EXACT []
synonym: "Partial/complete duplication of the phalanges of the 4th toe" EXACT []
xref: UMLS:C4021278
is_a: HP:0010181 ! Duplication of phalanx of toe
is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:51:46Z

[Term]
id: HP:0010380
name: Abnormality of the distal phalanx of the 4th toe
synonym: "Abnormality of the outermost 4th toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023870
is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes
is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:51:46Z

[Term]
id: HP:0010381
name: Abnormality of the middle phalanx of the 4th toe
synonym: "Abnormality of middle 4th toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023869
is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:51:46Z

[Term]
id: HP:0010382
name: Abnormal morphology of the proximal phalanx of the 4th toe
synonym: "Abnormal innermost 4th toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023868
is_a: HP:0010184 ! Abnormality of toe proximal phalanx
is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:51:46Z

[Term]
id: HP:0010383
name: Aplasia/Hypoplasia of the phalanges of the 5th toe
synonym: "Absent/small little toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/small pinkie toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/small pinky toe bones" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped pinky toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023867
is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes
is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:52:18Z

[Term]
id: HP:0010384
name: Broad phalanges of the 5th toe
synonym: "Broad bones of the little toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Broad bones of the pinkie toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Broad bones of the pinky toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023866
is_a: HP:0010174 ! Broad phalanx of the toes
is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:52:18Z

[Term]
id: HP:0010385
name: Bullet-shaped 5th toe phalanx
def: "An abnormal morphology of one or more phalanges of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped bones of the little toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Bullet-shaped bones of the pinkie toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Bullet-shaped bones of the pinky toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Bullet-shaped phalanges of the 5th toe" EXACT []
xref: UMLS:C4021277
is_a: HP:0010175 ! Bullet-shaped toe phalanx
is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:52:18Z

[Term]
id: HP:0010386
name: Curved 5th toe phalanx
def: "A deviation from the normal straight form of one or more phalanges of the fifth toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curved little toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Curved phalanges of the 5th toe" EXACT []
synonym: "Curved pinkie toe bones" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Curved pinky toe bones" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021276
is_a: HP:0010176 ! Curved toe phalanx
is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:52:18Z

[Term]
id: HP:0010387
name: Osteolytic defects of the phalanges of the 5th toe
xref: UMLS:C4023865
is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes
is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:52:18Z

[Term]
id: HP:0010388
name: Patchy sclerosis of 5th toe phalanx
def: "Patchy (irregular) increase in bone density of one or more of the phalanges of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [https://orcid.org/0000-0002-0736-9199]
synonym: "Patchy sclerosis of the phalanges of the 5th toe" EXACT []
synonym: "Uneven increase in bone density in little toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Uneven increase in bone density in pinkie toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Uneven increase in bone density in pinky toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021275
is_a: HP:0010178 ! Patchy sclerosis of toe phalanx
is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe
is_a: HP:0100929 ! Sclerosis of 5th toe phalanx
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:52:18Z

[Term]
id: HP:0010389
name: Symphalangism affecting the phalanges of the 5th toe
synonym: "Fused bones in the little toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Fused bones in the pinkie toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Fused bones in the pinky toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023864
is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes
is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe
is_a: HP:0100235 ! Synostosis involving bones of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:52:18Z

[Term]
id: HP:0010390
name: Triangular shaped phalanges of the 5th toe
synonym: "Triangular shaped little toe bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Triangular shaped pinkie toe bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Triangular shaped pinky toe bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023863
is_a: HP:0010180 ! Triangular shaped phalanges of the toes
is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:52:18Z

[Term]
id: HP:0010391
name: Duplication of the phalanges of the 5th toe
def: "Partial or complete duplication of one or more phalanx of little toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Duplication of the bones of the little toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Duplication of the bones of the pinkie toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Duplication of the bones of the pinky toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Duplication of the phalanges of the fifth toe" EXACT []
synonym: "Partial/complete duplication of the phalanges of the 5th toe" EXACT []
xref: UMLS:C4020903
is_a: HP:0010181 ! Duplication of phalanx of toe
is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:52:18Z

[Term]
id: HP:0010392
name: Abnormality of the distal phalanx of the 5th toe
synonym: "Abnormality of the outermost bone of the little toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the outermost bone of the pinkie toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the outermost bone of the pinky toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023862
is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:52:18Z

[Term]
id: HP:0010393
name: Abnormality of the middle phalanx of the 5th toe
synonym: "Abnormality of the middle bone of the little toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the middle bone of the pinkie toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the middle bone of the pinky toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023861
is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes
is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:52:18Z

[Term]
id: HP:0010394
name: Abnormal morphology of the proximal phalanx of the 5th toe
synonym: "Abnormality of the innermost bone of the little toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the innermost bone of the pinkie toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the innermost bone of the pinky toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023860
is_a: HP:0010184 ! Abnormality of toe proximal phalanx
is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:52:18Z

[Term]
id: HP:0010395
name: Aplasia/hypoplasia of the proximal phalanx of the 2nd toe
def: "Absence (agenesis) or underdevelopment of the proximal phalanx of the 2nd toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small innermost 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped innermost 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023859
is_a: HP:0010203 ! Aplasia/hypoplasia of proximal toe phalanx
is_a: HP:0010325 ! Aplasia/Hypoplasia of the 2nd toe
is_a: HP:0010347 ! Aplasia/Hypoplasia of the phalanges of the 2nd toe
is_a: HP:0010358 ! Abnormal morphology of the proximal phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:58:15Z

[Term]
id: HP:0010396
name: Broad proximal phalanx of the 2nd toe
synonym: "Broad innermost bone of 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023858
is_a: HP:0010204 ! Broad proximal phalanx of toe
is_a: HP:0010348 ! Broad phalanges of the 2nd toe
is_a: HP:0010358 ! Abnormal morphology of the proximal phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:58:15Z

[Term]
id: HP:0010397
name: Bullet-shaped proximal phalanx of the 2nd toe
def: "An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped innermost bone of 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023857
is_a: HP:0010205 ! Bullet-shaped proximal toe phalanx
is_a: HP:0010349 ! Bullet-shaped 2nd toe phalanx
is_a: HP:0010358 ! Abnormal morphology of the proximal phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:58:15Z

[Term]
id: HP:0010398
name: Curved proximal phalanx of the 2nd toe
def: "A deviation from the normal straight form of the proximal phalanx of the 2nd toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curved innermost bone of 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023856
is_a: HP:0010206 ! Curved proximal toe phalanx
is_a: HP:0010350 ! Curved 2nd toe phalanx
is_a: HP:0010358 ! Abnormal morphology of the proximal phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:58:15Z

[Term]
id: HP:0010399
name: Osteolytic defects of the proximal phalanx of the 2nd toe
xref: UMLS:C4023855
is_a: HP:0010351 ! Osteolytic defects of the phalanges of the 2nd toe
is_a: HP:0010358 ! Abnormal morphology of the proximal phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:58:15Z

[Term]
id: HP:0010400
name: Patchy sclerosis of the proximal phalanx of the 2nd toe
synonym: "Uneven increase in bone density in the innermost bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023854
is_a: HP:0010208 ! Patchy sclerosis of proximal toe phalanx
is_a: HP:0010352 ! Patchy sclerosis of 2nd toe phalanx
is_a: HP:0010358 ! Abnormal morphology of the proximal phalanx of the 2nd toe
is_a: HP:0100931 ! Sclerosis of the proximal phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:58:15Z

[Term]
id: HP:0010401
name: Symphalangism affecting the proximal phalanx of the 2nd toe
synonym: "Fused innermost bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023853
is_a: HP:0010353 ! Second toe symphalangism
is_a: HP:0010358 ! Abnormal morphology of the proximal phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:58:15Z

[Term]
id: HP:0010402
name: Triangular shaped proximal phalanx of the 2nd toe
synonym: "Triangular shaped innermost 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023852
is_a: HP:0010354 ! Triangular shaped phalanges of the 2nd toe
is_a: HP:0010358 ! Abnormal morphology of the proximal phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:58:15Z

[Term]
id: HP:0010403
name: Duplication of the proximal phalanx of the 2nd toe
def: "Partial or complete duplication of proximal phalanx of second toe." [https://orcid.org/0009-0006-4530-3154]
synonym: "Duplication of innermost 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Duplication of the proximal phalanx of the second toe" EXACT []
synonym: "Partial/complete duplication of the proximal phalanx of the 2nd toe" EXACT []
xref: UMLS:C4021274
is_a: HP:0010355 ! Duplication of the phalanges of the 2nd toe
is_a: HP:0010358 ! Abnormal morphology of the proximal phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T11:58:15Z

[Term]
id: HP:0010404
name: Aplasia/Hypoplasia of the middle phalanx of the 2nd toe
synonym: "Absent/small middle bone of 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped middle bone of 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023851
is_a: HP:0010194 ! Aplasia/Hypoplasia of the middle phalanges of the toes
is_a: HP:0010325 ! Aplasia/Hypoplasia of the 2nd toe
is_a: HP:0010347 ! Aplasia/Hypoplasia of the phalanges of the 2nd toe
is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T12:43:52Z

[Term]
id: HP:0010405
name: Broad middle phalanx of the 2nd toe
synonym: "Broad middle bone of 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023850
is_a: HP:0010195 ! Broad middle phalanges of the toes
is_a: HP:0010348 ! Broad phalanges of the 2nd toe
is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T12:43:52Z

[Term]
id: HP:0010406
name: Bullet-shaped middle phalanx of the 2nd toe
def: "An abnormal morphology of the middle phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped middle bone of 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023849
is_a: HP:0010349 ! Bullet-shaped 2nd toe phalanx
is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T12:43:52Z

[Term]
id: HP:0010407
name: Curved middle phalanx of the 2nd toe
def: "A deviation from the normal straight form of the middle phalanx of the 2nd toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curved middle bone of 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023848
is_a: HP:0010197 ! Curved middle toe phalanx
is_a: HP:0010350 ! Curved 2nd toe phalanx
is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T12:43:52Z

[Term]
id: HP:0010408
name: Osteolytic defects of the middle phalanx of the 2nd toe
xref: UMLS:C4023847
is_a: HP:0010351 ! Osteolytic defects of the phalanges of the 2nd toe
is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T12:43:52Z

[Term]
id: HP:0010409
name: Patchy sclerosis of the middle phalanx of the 2nd toe
synonym: "Uneven increase in bone density in the middle bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023846
is_a: HP:0010199 ! Patchy sclerosis of middle toe phalanx
is_a: HP:0010352 ! Patchy sclerosis of 2nd toe phalanx
is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe
is_a: HP:0100935 ! Sclerosis of the middle phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T12:43:52Z

[Term]
id: HP:0010410
name: Symphalangism affecting the middle phalanx of the 2nd toe
synonym: "Fused middle bone of 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023845
is_a: HP:0010353 ! Second toe symphalangism
is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T12:43:52Z

[Term]
id: HP:0010411
name: Triangular shaped middle phalanx of the 2nd toe
synonym: "Triangular shaped middle bone of 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023844
is_a: HP:0010354 ! Triangular shaped phalanges of the 2nd toe
is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T12:43:52Z

[Term]
id: HP:0010412
name: Duplication of the middle phalanx of the 2nd toe
def: "Partial or complete duplication of middle phalanx of second toe." [https://orcid.org/0009-0006-4530-3154]
synonym: "Duplication of middle bone of 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial/complete duplication of the middle phalanx of the 2nd toe" EXACT []
xref: UMLS:C4021273
is_a: HP:0010355 ! Duplication of the phalanges of the 2nd toe
is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T12:43:52Z

[Term]
id: HP:0010413
name: Aplasia/Hypoplasia of the distal phalanx of the 2nd toe
synonym: "Absent/small outermost 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped outermost 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023843
is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes
is_a: HP:0010325 ! Aplasia/Hypoplasia of the 2nd toe
is_a: HP:0010347 ! Aplasia/Hypoplasia of the phalanges of the 2nd toe
is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T12:44:41Z

[Term]
id: HP:0010414
name: Broad distal phalanx of the 2nd toe
synonym: "Broad outermost bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Wide outermost bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023842
is_a: HP:0010186 ! Broad distal phalanx of the toes
is_a: HP:0010348 ! Broad phalanges of the 2nd toe
is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T12:44:41Z

[Term]
id: HP:0010415
name: Bullet-shaped distal phalanx of the 2nd toe
def: "An abnormal morphology of the distal phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bullet-shaped outermost bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023841
is_a: HP:0010349 ! Bullet-shaped 2nd toe phalanx
is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T12:44:41Z

[Term]
id: HP:0010416
name: Curved distal phalanx of the 2nd toe
def: "A deviation from the normal straight form of the distal phalanx of the 2nd toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Curved outermost bone of the 2nd toe" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023840
is_a: HP:0010188 ! Curved distal toe phalanx
is_a: HP:0010350 ! Curved 2nd toe phalanx
is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T12:44:41Z

[Term]
id: HP:0010417
name: Osteolytic defects of the distal phalanx of the 2nd toe
xref: UMLS:C4023839
is_a: HP:0010351 ! Osteolytic defects of the phalanges of the 2nd toe
is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T12:44:41Z

[Term]
id: HP:0010418
name: Patchy sclerosis of the distal phalanx of the 2nd toe
synonym: "Uneven increase in bone density in the outermost bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023838
is_a: HP:0010190 ! Patchy sclerosis of distal toe phalanx
is_a: HP:0010352 ! Patchy sclerosis of 2nd toe phalanx
is_a: HP:0100939 ! Sclerosis of the distal phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T12:44:41Z

[Term]
id: HP:0010419
name: Symphalangism affecting the distal phalanx of the 2nd toe
synonym: "Fused outermost bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023837
is_a: HP:0001859 ! Distal foot symphalangism
is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe
is_a: HP:0010410 ! Symphalangism affecting the middle phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T12:44:41Z

[Term]
id: HP:0010420
name: Triangular shaped distal phalanx of the 2nd toe
synonym: "Triangular shaped outermost 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023836
is_a: HP:0010354 ! Triangular shaped phalanges of the 2nd toe
is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T12:44:41Z

[Term]
id: HP:0010421
name: Duplication of the distal phalanx of the 2nd toe
def: "Partial or complete duplication of the distal phalanx of second toe." [https://orcid.org/0009-0006-4530-3154]
synonym: "Duplication of the outermost bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial/complete duplication of the distal phalanx of the 2nd toe" EXACT []
xref: UMLS:C4021272
is_a: HP:0010193 ! Duplication of distal phalanx of toe
is_a: HP:0010355 ! Duplication of the phalanges of the 2nd toe
is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T12:44:41Z

[Term]
id: HP:0010422
name: Complete duplication of the proximal phalanx of the 2nd toe
def: "Complete duplication of proximal phalanx of second toe." [https://orcid.org/0009-0006-4530-3154]
synonym: "Complete duplication of the innermost 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Complete duplication of the proximal phalanx of the second toe" EXACT []
xref: UMLS:C4021271
is_a: HP:0010403 ! Duplication of the proximal phalanx of the 2nd toe
is_a: HP:0010429 ! Complete duplication of the phalanges of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T12:56:56Z

[Term]
id: HP:0010423
name: Partial duplication of the proximal phalanx of the 2nd toe
def: "Partial duplication of proximal phalanx of second toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Partial duplication of the innermost 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Partial duplication of the proximal phalanx of the second toe" EXACT []
xref: UMLS:C4021270
is_a: HP:0010403 ! Duplication of the proximal phalanx of the 2nd toe
is_a: HP:0010428 ! Partial duplication of phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T12:56:56Z

[Term]
id: HP:0010424
name: Complete duplication of the distal phalanx of the 2nd toe
def: "Complete duplication of the distal phalanx of second toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Complete duplication of the outermost bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023835
is_a: HP:0010421 ! Duplication of the distal phalanx of the 2nd toe
is_a: HP:0010429 ! Complete duplication of the phalanges of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T12:57:27Z

[Term]
id: HP:0010425
name: Partial duplication of the distal phalanx of the 2nd toe
def: "Partial duplication of the distal phalanx of second toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Partial duplication of the outermost bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023834
is_a: HP:0010421 ! Duplication of the distal phalanx of the 2nd toe
is_a: HP:0010428 ! Partial duplication of phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T12:57:27Z

[Term]
id: HP:0010426
name: Complete duplication of the middle phalanx of the 2nd toe
def: "Complete duplication of middle phalanx of second toe." [https://orcid.org/0009-0006-4530-3154]
synonym: "Complete duplication of the middle bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023833
is_a: HP:0010412 ! Duplication of the middle phalanx of the 2nd toe
is_a: HP:0010429 ! Complete duplication of the phalanges of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T12:58:18Z

[Term]
id: HP:0010427
name: Partial duplication of the middle phalanx of the 2nd toe
def: "Partial duplication of middle phalanx of second toe." [https://orcid.org/0009-0006-4530-3154]
synonym: "Partial duplication of the middle bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023832
is_a: HP:0010412 ! Duplication of the middle phalanx of the 2nd toe
is_a: HP:0010428 ! Partial duplication of phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T12:58:18Z

[Term]
id: HP:0010428
name: Partial duplication of phalanx of the 2nd toe
def: "Partial duplication of a phalanx of second toe." [https://orcid.org/0009-0006-4530-3154]
synonym: "Partial duplication of 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023831
is_a: HP:0010355 ! Duplication of the phalanges of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T04:07:33Z

[Term]
id: HP:0010429
name: Complete duplication of the phalanges of the 2nd toe
def: "Complete duplication of a phalanx of second toe." [https://orcid.org/0009-0006-4530-3154]
synonym: "Complete duplication of the 2nd toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023830
is_a: HP:0010355 ! Duplication of the phalanges of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T04:07:33Z

[Term]
id: HP:0010430
name: Aplasia of the phalanges of the 2nd toe
alt_id: HP:0100361
synonym: "Absent 2nd toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023829
is_a: HP:0010325 ! Aplasia/Hypoplasia of the 2nd toe
is_a: HP:0010347 ! Aplasia/Hypoplasia of the phalanges of the 2nd toe
is_a: HP:0010745 ! Aplasia of the phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T04:27:29Z

[Term]
id: HP:0010431
name: Short phalanx of the 2nd toe
alt_id: HP:0100365
def: "Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic/small phalanges of the 2nd toe" EXACT []
synonym: "Short 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Short phalanx of the second toe" EXACT []
xref: UMLS:C4021269
is_a: HP:0010325 ! Aplasia/Hypoplasia of the 2nd toe
is_a: HP:0010347 ! Aplasia/Hypoplasia of the phalanges of the 2nd toe
is_a: HP:0010746 ! Hypoplasia of the phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T04:27:29Z

[Term]
id: HP:0010432
name: Absent distal phalanx of the 2nd toe
def: "Absence of distal phalanx of the second toe as a result of developmental aplasia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent distal phalanx of the second toe" EXACT []
synonym: "Absent outermost bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Aplasia of the distal phalanx of the 2nd toe" EXACT []
xref: UMLS:C4021268
is_a: HP:0010413 ! Aplasia/Hypoplasia of the distal phalanx of the 2nd toe
is_a: HP:0010430 ! Aplasia of the phalanges of the 2nd toe
is_a: HP:0010645 ! Aplasia of the distal phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T04:28:07Z

[Term]
id: HP:0010433
name: Short distal phalanx of the 2nd toe
def: "Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic/small distal phalanx of the 2nd toe" EXACT []
synonym: "Short distal phalanx of the second toe" EXACT []
synonym: "Short outermost bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021267
is_a: HP:0010413 ! Aplasia/Hypoplasia of the distal phalanx of the 2nd toe
is_a: HP:0010431 ! Short phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T04:28:07Z

[Term]
id: HP:0010434
name: Aplasia of the middle phalanx of the 2nd toe
synonym: "Absent middle bone of 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023828
is_a: HP:0010404 ! Aplasia/Hypoplasia of the middle phalanx of the 2nd toe
is_a: HP:0010430 ! Aplasia of the phalanges of the 2nd toe
is_a: HP:0100388 ! Aplasia of the proximal phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T04:28:48Z

[Term]
id: HP:0010435
name: Short middle phalanx of the 2nd toe
def: "Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic/small middle phalanx of the 2nd toe" EXACT []
synonym: "Short middle 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Short middle phalanx of the second toe" EXACT []
xref: UMLS:C4021266
is_a: HP:0010404 ! Aplasia/Hypoplasia of the middle phalanx of the 2nd toe
is_a: HP:0010431 ! Short phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T04:28:48Z

[Term]
id: HP:0010436
name: Aplasia of the proximal phalanx of the 2nd toe
synonym: "Absent innermost 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023827
is_a: HP:0010395 ! Aplasia/hypoplasia of the proximal phalanx of the 2nd toe
is_a: HP:0010430 ! Aplasia of the phalanges of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T04:29:25Z

[Term]
id: HP:0010437
name: Short proximal phalanx of the 2nd toe
def: "Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia." [https://orcid.org/0009-0006-4530-3154]
synonym: "Hypoplastic/small proximal phalanx of the 2nd toe" EXACT []
synonym: "Short innermost 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Short proximal phalanx of the second toe" EXACT []
xref: UMLS:C4021265
is_a: HP:0010395 ! Aplasia/hypoplasia of the proximal phalanx of the 2nd toe
is_a: HP:0010431 ! Short phalanx of the 2nd toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-16T04:29:25Z

[Term]
id: HP:0010438
name: Abnormal ventricular septum morphology
alt_id: HP:0001628
def: "A structural abnormality of the interventricular septum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal interventricular septum morphology" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the ventricular septum" EXACT []
synonym: "Ventricular septum abnormality" EXACT []
xref: Fyler:1815
xref: UMLS:C4021264
is_a: HP:0001671 ! Abnormal cardiac septum morphology
is_a: HP:0001713 ! Abnormal cardiac ventricle morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-27T11:59:56Z

[Term]
id: HP:0010440
name: Ectopic accessory toe-like appendage
def: "In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the fibular side of the foot, next top the little toe), preaxial (on the tibial side of the foot, next to the big toe) or mesoaxial (somewhere central, between big and little toe), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200)." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023826
is_a: HP:0001829 ! Foot polydactyly
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-29T01:23:02Z

[Term]
id: HP:0010441
name: Ectopic accessory finger-like appendage
def: "In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200)." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023825
is_a: HP:0001161 ! Hand polydactyly
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-29T01:34:47Z

[Term]
id: HP:0010442
name: Polydactyly
alt_id: HP:0006034
alt_id: HP:0006046
alt_id: HP:0006123
alt_id: HP:0009605
def: "A congenital anomaly characterized by the presence of supernumerary fingers or toes." [https://orcid.org/0000-0002-0736-9199]
synonym: "More than five fingers or toes on hands or feet" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: Fyler:4103
xref: SNOMEDCT_US:367506006
xref: UMLS:C0152427
is_a: HP:0011297 ! Abnormal digit morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-29T01:39:27Z

[Term]
id: HP:0010443
name: Bifid femur
def: "A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Notched thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Split thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023824
is_a: HP:0002823 ! Abnormal femur morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-07-29T04:29:30Z

[Term]
id: HP:0010444
name: Pulmonic regurgitation
def: "The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-3302-4610, PMID:32491496]
comment: The pulmonary valve directs blood from the right ventricle (RV) towards the pulmonary arteries during systole.
synonym: "Pulmonary incompetence" EXACT []
synonym: "Pulmonary valve insufficiency" EXACT []
synonym: "Pulmonary valve regurgitation" EXACT []
synonym: "Puolmonary valve insufficiency" EXACT []
xref: SNOMEDCT_US:91434003
xref: UMLS:C0034088
is_a: HP:0031654 ! Abnormal pulmonary valve physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-14T09:54:12Z

[Term]
id: HP:0010445
name: Primum atrial septal defect
def: "An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
synonym: "Atrial septal defect, primum type" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "ostium primum ASD" EXACT abbreviation []
synonym: "Ostium primum atrial septal defect" EXACT []
synonym: "Primum atrioventricular canal defect" EXACT []
synonym: "Septum primum defect" EXACT []
xref: Fyler:1110
xref: SNOMEDCT_US:253373002
xref: UMLS:C0344735
xref: UMLS:C0741296
is_a: HP:0001631 ! Atrial septal defect
is_a: HP:0006695 ! Atrioventricular canal defect
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-14T09:59:38Z

[Term]
id: HP:0010446
name: Tricuspid stenosis
def: "A narrowing of the orifice of the tricuspid valve of the heart." [https://orcid.org/0000-0002-0736-9199, PMID:18222317]
comment: Tricuspid stenosis results in characteristic changes in the jugular venous pulse in the form of leisurely V to Y descent and prominent a-waves. The liver is enlarged with a firm edge and is pulsatile in presystole. This is best appreciated with one hand on the liver edge and one on the precordium. Auscultation reveals a low- to medium-pitched diastolic rumble with inspiratory accentuation. This is usually localized to the lower sternal border.
xref: EPCC:06.01.92
xref: ICD-10:Q22.4
xref: SNOMEDCT_US:49915006
xref: UMLS:C0040963
is_a: HP:0031651 ! Abnormal tricuspid valve physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-14T10:10:10Z

[Term]
id: HP:0010447
name: Anal fistula
def: "An abnormal connection between the epithelialised surface of the anal canal and the perianal skin." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Fistula in ano" EXACT []
xref: MEDDRA:10002156 "Anal fistula"
xref: SNOMEDCT_US:72779005
xref: UMLS:C0205929
is_a: HP:0034915 ! Abnormal anus morphology
is_a: HP:0100819 ! Intestinal fistula
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-14T10:16:39Z

[Term]
id: HP:0010448
name: Colonic atresia
def: "A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or atresia of the tubular structure of the colon." [https://orcid.org/0000-0002-0736-9199]
synonym: "Atresia of the large intestine" EXACT []
synonym: "Large intestinal atresia" EXACT []
xref: SNOMEDCT_US:37054000
xref: UMLS:C0266190
is_a: HP:0002250 ! Abnormal large intestine morphology
is_a: HP:0011100 ! Intestinal atresia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-14T10:23:09Z

[Term]
id: HP:0010450
name: Esophageal stenosis
def: "An abnormal narrowing of the lumen of the esophagus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Narrowing of the esophagus" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Narrowing of the oesophagus" EXACT uk_spelling []
xref: SNOMEDCT_US:63305008
xref: UMLS:C0014866
is_a: HP:0002031 ! Abnormal esophagus morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-14T10:42:33Z

[Term]
id: HP:0010451
name: Aplasia/Hypoplasia of the spleen
def: "Absence or underdevelopment of the spleen." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small spleen" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped spleen" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023823
is_a: HP:0025408 ! Abnormal spleen morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-14T10:48:29Z

[Term]
id: HP:0010452
name: Ectopia of the spleen
def: "An abnormal (non-anatomic) location of the spleen." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal spleen location" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Ectopic spleen" EXACT []
xref: SNOMEDCT_US:65146007
xref: UMLS:C0266632
is_a: HP:0025408 ! Abnormal spleen morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-14T10:51:09Z

[Term]
id: HP:0010453
name: Pelvic bone asymmetry
def: "Pelvic asymmetry refers to asymmetric positioning of landmarks on the two sides of the pelvis and may have a structural or functional etiology." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Asymmetric pelvis" EXACT []
synonym: "Pelvic asymmetry" BROAD [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C4021263
is_a: HP:0040163 ! Abnormal pelvis bone morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-14T11:01:50Z

[Term]
id: HP:0010454
name: Acetabular spurs
def: "The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
xref: UMLS:C3808270
is_a: HP:0003170 ! Abnormal acetabulum morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-14T11:15:40Z

[Term]
id: HP:0010455
name: Steep acetabular roof
def: "An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C3150931
is_a: HP:0003170 ! Abnormal acetabulum morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-14T11:18:20Z

[Term]
id: HP:0010456
name: Abnormal greater sciatic notch morphology
alt_id: HP:0030266
def: "An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of greater sciatic notch" EXACT []
synonym: "Abnormality of the greater sacrosciatic notch" EXACT []
synonym: "Abnormality of the sacroiliac notch" EXACT []
xref: UMLS:C4023822
is_a: HP:0002644 ! Abnormal pelvic girdle bone morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-15T08:14:32Z

[Term]
id: HP:0010457
name: obsolete Widening of the sacrosciatic notch
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
is_obsolete: true
replaced_by: HP:0008798
creation_date: 2009-09-15T08:16:32Z

[Term]
id: HP:0010458
name: Female pseudohermaphroditism
def: "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:8800006
xref: UMLS:C0238394
is_a: HP:0000055 ! Abnormal female external genitalia morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-15T08:21:32Z

[Term]
id: HP:0010459
name: True hermaphroditism
alt_id: HP:0003242
def: "The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism." [https://orcid.org/0000-0002-0736-9199, PMID:11327376]
comment: In true hermaphroditism, the testicular tissue must have well developed seminiferous tubules, and the ovarian tissue primordial follicles. The external genitalia are usually associated with variable degrees of sexual ambiguity, depending on the amount of functioning testicular tissue. Internally, a uterus is almost always present, but the development of Mullerian and Wolffian structures is variable and generally depends on the adjacent gonad. Usually there is a vas deferens on the side of the testis, and a Fallopian tube on the side of the ovary. Both types of ducts can occur next to an ovotestis. An ovotestis is the most common gonad found in true hermaphroditism and can be coded with HP:0012861.
synonym: "Testicular and ovarian tissue present" EXACT []
xref: SNOMEDCT_US:18978002
xref: UMLS:C0266361
is_a: HP:0000062 ! Ambiguous genitalia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-15T08:28:15Z

[Term]
id: HP:0010460
name: Abnormality of the female genitalia
def: "Abnormality of the female genital system." [https://orcid.org/0000-0002-0736-9199]
comment: Abnormality of the female internal or external genitalia.
xref: UMLS:C4023820
is_a: HP:0012243 ! Abnormal reproductive system morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-15T08:32:09Z

[Term]
id: HP:0010461
name: Abnormality of the male genitalia
def: "Abnormality of the male genital system." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal male genitals" EXACT layperson []
synonym: "Abnormality of the male genitalia" EXACT layperson []
xref: UMLS:C4023819
is_a: HP:0012243 ! Abnormal reproductive system morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-15T08:33:20Z

[Term]
id: HP:0010462
name: Aplasia/Hypoplasia of the ovary
def: "Aplasia or developmental hypoplasia of the ovary." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small ovary" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped ovary" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023818
is_a: HP:0031065 ! Abnormal ovarian morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-15T08:38:35Z

[Term]
id: HP:0010463
name: Aplasia of the ovary
def: "Aplasia, that is failure to develop, of the ovary." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent ovary" EXACT layperson []
synonym: "Aplasia of the ovaries" RELATED []
synonym: "Bilateral absent ovaries" RELATED [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:12017008
xref: UMLS:C0266368
is_a: HP:0010462 ! Aplasia/Hypoplasia of the ovary
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-15T08:40:06Z

[Term]
id: HP:0010464
name: Streak ovary
def: "A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:70550008
xref: UMLS:C0266371
is_a: HP:0008724 ! Hypoplasia of the ovary
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-15T08:42:35Z

[Term]
id: HP:0010465
name: Precocious puberty in females
def: "The onset of puberty before the age of 8 years in girls." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:19911007
xref: UMLS:C0271616
is_a: HP:0000826 ! Precocious puberty
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-15T08:48:42Z

[Term]
id: HP:0010468
name: Aplasia/Hypoplasia of the testes
def: "Absence or underdevelopment of the testes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small testes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped testes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023817
is_a: HP:0045058 ! Abnormality of the testis size
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-15T09:28:46Z

[Term]
id: HP:0010469
name: Absent testis
def: "Testis not palpable in the scrotum or inguinal canal." [https://orcid.org/0000-0002-0736-9199, PMID:23650202]
comment: Absence can be congenital or not (vanishing testis). Definitive assessment can only be made by imaging or surgical studies, in order to exclude an intra-abdominal testis, which should be coded as Cryptorchidism. True absence of a testis can be difficult to prove. Anorchia is true absence of both testes, and can only be determined by imaging or surgical studies.
synonym: "Absence of palpable testicules" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Absent testes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Aplasia of the testes" EXACT []
xref: UMLS:C4023816
is_a: HP:0010468 ! Aplasia/Hypoplasia of the testes
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-15T09:29:16Z

[Term]
id: HP:0010470
name: Supernumerary testes
def: "The presence of more than two testes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Extra testes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Polyorchidism" EXACT []
xref: SNOMEDCT_US:17471001
xref: UMLS:C0266430
is_a: HP:0000035 ! Abnormal testis morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-15T09:34:18Z

[Term]
id: HP:0010471
name: Oligosacchariduria
def: "Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023815
is_a: HP:0031979 ! Abnormal urine carbohydrate level
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-15T09:48:34Z

[Term]
id: HP:0010472
name: Abnormal circulating porphyrin concentration
def: "An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023814
is_a: HP:0430071 ! Abnormal circulating organic compound concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-15T09:53:11Z

[Term]
id: HP:0010473
name: Porphyrinuria
def: "Abnormally increased excretion of porphyrins in the urine." [https://orcid.org/0000-0002-0736-9199]
comment: Porphyrins are natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure. One of the best-known porphyrins is heme.
xref: SNOMEDCT_US:44574006
xref: UMLS:C0151861
is_a: HP:0033354 ! Abnormal urine metabolite level
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-15T09:57:34Z

[Term]
id: HP:0010474
name: Bladder stones
def: "Buildups of minerals that form in the urinary bladder." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:70650003
xref: UMLS:C0005683
is_a: HP:0025487 ! Abnormal bladder morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-15T10:03:20Z

[Term]
id: HP:0010475
name: Cloacal exstrophy
def: "Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:20815007
xref: UMLS:C0345217
is_a: HP:0012620 ! Cloacal abnormality
is_a: HP:0100548 ! Exstrophy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-15T10:08:32Z

[Term]
id: HP:0010476
name: Aplasia/Hypoplasia of the bladder
def: "Absence or underdevelopment of the urinary bladder." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small bladder" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped bladder" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023813
is_a: HP:0025487 ! Abnormal bladder morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-15T10:09:48Z

[Term]
id: HP:0010477
name: Aplasia of the bladder
def: "Aplasia (absence) of the urinary bladder." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent bladder" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023812
is_a: HP:0010476 ! Aplasia/Hypoplasia of the bladder
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-15T10:10:19Z

[Term]
id: HP:0010478
name: Abnormality of the urachus
def: "Abnormality of the urachus." [https://orcid.org/0000-0002-0736-9199]
comment: The urachus is a vestigial embryonic structure, a canal that connects the urinary bladder of the fetus with the allantois (a structure involved in the development of the umbilical cord). During embryonic development, the lumen of the urachus is normally obliterated, transforming the urachus into a solid cord.
xref: UMLS:C4023811
is_a: HP:0025487 ! Abnormal bladder morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-15T10:13:04Z

[Term]
id: HP:0010479
name: Patent urachus
def: "Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Persistent urachus" EXACT []
xref: SNOMEDCT_US:398316009
xref: UMLS:C0266357
is_a: HP:0010478 ! Abnormality of the urachus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-15T10:15:17Z

[Term]
id: HP:0010480
name: Urethral fistula
def: "The presence of an abnormal connection between the urethra and another organ or the skin." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:14981000
xref: UMLS:C0041970
is_a: HP:0000795 ! Abnormality of the urethra
is_a: HP:0100589 ! Urogenital fistula
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-15T10:37:37Z

[Term]
id: HP:0010481
name: Urethral valve
def: "The presence of an abnormal membrane obstructing the urethra." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:297163001
xref: UMLS:C0266345
is_a: HP:0000796 ! Urethral obstruction
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-15T10:38:46Z

[Term]
id: HP:0010482
name: Acromelia of the upper limbs
def: "Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023810
is_a: HP:0010884 ! Acromelia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-16T08:56:43Z

[Term]
id: HP:0010483
name: Amniotic constriction rings of arms
def: "Amniotic constriction rings affecting the arms." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023809
is_a: HP:0002817 ! Abnormality of the upper limb
is_a: HP:0009775 ! Amniotic constriction ring
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-16T09:15:05Z

[Term]
id: HP:0010484
name: Hypertrophy of the upper limb
def: "Abnormal increase in size of the upper limbs (due to an increase of the size of cells)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased size of upper limb" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:298745009
xref: UMLS:C0575518
is_a: HP:0002817 ! Abnormality of the upper limb
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-16T09:23:57Z

[Term]
id: HP:0010485
name: Hyperextensibility at elbow
def: "The ability of the elbow joint to move beyond its normal range of motion." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023808
is_a: HP:0430046 ! Small joint hypermobilty
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-16T10:05:52Z

[Term]
id: HP:0010486
name: Abnormality of the hypothenar eminence
def: "An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger)." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023807
is_a: HP:0001421 ! Abnormality of the musculature of the hand
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-16T10:38:43Z

[Term]
id: HP:0010487
name: Small hypothenar eminence
alt_id: HP:0005721
def: "Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
subset: hposlim_core
synonym: "Hypoplasia of the hypothenar eminence" EXACT []
synonym: "Hypothenar hypoplasia" EXACT []
xref: UMLS:C1861395
is_a: HP:0010486 ! Abnormality of the hypothenar eminence
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-16T10:40:18Z

[Term]
id: HP:0010488
name: Aplasia/Hypoplasia of the palmar creases
def: "Absence or underdevelopment of the palmar creases." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small palm crease" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped palm crease" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023806
is_a: HP:0010490 ! Abnormality of the palmar creases
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-16T10:53:24Z

[Term]
id: HP:0010489
name: Absent palmar crease
def: "The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease)." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
subset: hposlim_core
synonym: "Absence of the palmar creases" EXACT []
synonym: "Absent palm lines" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Aplasia of the palmar creases" EXACT []
xref: UMLS:C4021262
is_a: HP:0010488 ! Aplasia/Hypoplasia of the palmar creases
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-16T10:54:09Z

[Term]
id: HP:0010490
name: Abnormality of the palmar creases
def: "An abnormality of the creases of the skin of palm of hand." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of the palm lines" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:205557000
xref: UMLS:C0221199
is_a: HP:0001018 ! Abnormal palmar dermatoglyphics
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-16T10:54:52Z

[Term]
id: HP:0010491
name: Digital constriction ring
def: "A narrow segment of significantly reduced circumference of a digit." [PMID:19125433]
comment: The description should specify the hand and digit that is affected and the approximate location of the band relative to the phalanges. It may be described as partial, if it does not involve the entire circumference of the digit.
subset: hposlim_core
synonym: "Amniotic constriction rings of digits" EXACT []
xref: UMLS:C4021261
is_a: HP:0009775 ! Amniotic constriction ring
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-16T11:08:16Z

[Term]
id: HP:0010492
name: Osseous finger syndactyly
def: "Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones." [https://orcid.org/0009-0006-4530-3154]
comment: Bony fusions are referred to as bony syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as symphalangism.
subset: hposlim_core
synonym: "Osseous syndactyly of the fingers" EXACT []
xref: SNOMEDCT_US:2560006
xref: UMLS:C0158736
is_a: HP:0006101 ! Finger syndactyly
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-16T11:20:38Z

[Term]
id: HP:0010493
name: Long metacarpals
def: "An abnormally increased length of the metacarpal bones." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Elongated long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Increased length of metacarpals" EXACT []
xref: UMLS:C4021260
is_a: HP:0005916 ! Abnormal metacarpal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-17T10:25:37Z

[Term]
id: HP:0010494
name: Acromelia of the lower limbs
def: "Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023805
is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs
is_a: HP:0010884 ! Acromelia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-17T11:04:51Z

[Term]
id: HP:0010495
name: Amniotic constriction rings of legs
def: "Amniotic constriction rings affecting the legs." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023804
is_a: HP:0002814 ! Abnormality of the lower limb
is_a: HP:0009775 ! Amniotic constriction ring
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-17T11:07:10Z

[Term]
id: HP:0010496
name: Hypertrophy of the lower limb
def: "Abnormal increase in size of the lower limbs (due to an increase of the size of cells)." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023803
is_a: HP:0002814 ! Abnormality of the lower limb
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-17T11:08:38Z

[Term]
id: HP:0010497
name: Sirenomelia
def: "A developmental defect in which the legs are fused together." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Sympodia" RELATED []
xref: MEDDRA:10049216 "Sympodia"
xref: SNOMEDCT_US:253191000
xref: SNOMEDCT_US:67254002
xref: SNOMEDCT_US:91089008
xref: UMLS:C0037205
is_a: HP:0002814 ! Abnormality of the lower limb
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-17T11:11:10Z

[Term]
id: HP:0010498
name: Bipartite patella
def: "A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
xref: SNOMEDCT_US:79214007
xref: UMLS:C0265666
is_a: HP:0003045 ! Abnormal patella morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-17T11:39:39Z

[Term]
id: HP:0010499
name: Patellar subluxation
def: "The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella." [https://orcid.org/0000-0002-0736-9199]
synonym: "Partial knee cap dislocation" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Subluxation of patella" EXACT []
xref: UMLS:C0857276
is_a: HP:0003045 ! Abnormal patella morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-17T11:46:41Z

[Term]
id: HP:0010500
name: Hyperextensibility of the knee
def: "The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh)." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023802
is_a: HP:0034670 ! Abnormal knee physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-19T09:44:04Z

[Term]
id: HP:0010501
name: Limitation of knee mobility
alt_id: HP:0005030
alt_id: HP:0005192
def: "An abnormal limitation of knee joint mobility." [https://orcid.org/0000-0002-0736-9199]
comment: The knee permits four types of movement: (i) Extension (straightening the lower leg); (ii) Flexion (bending the knee); (iii) Lateral rotation (turning outwards); and (iv) Medial rotation (turning inward)
synonym: "Limitation of knee mobility" EXACT layperson []
synonym: "Limited knee movement" EXACT layperson []
xref: UMLS:C4021259
is_a: HP:0001376 ! Limitation of joint mobility
is_a: HP:0034670 ! Abnormal knee physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-19T09:44:33Z

[Term]
id: HP:0010502
name: Fibular bowing
def: "A bending or abnormal curvature of the fibula." [https://orcid.org/0000-0002-0736-9199]
comment: A developmental defect with posteromedial fibular angulation.
synonym: "Bowed calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023801
is_a: HP:0002979 ! Bowing of the legs
is_a: HP:0002991 ! Abnormal fibula morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-19T09:45:18Z

[Term]
id: HP:0010503
name: Fibular duplication
def: "Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Duplicated calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C3276742
is_a: HP:0002991 ! Abnormal fibula morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-19T09:45:58Z

[Term]
id: HP:0010504
name: Increased length of the tibia
def: "An abnormal increase in the length of the tibia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased length of shankbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Increased length of shinbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021864
is_a: HP:0002992 ! Abnormal tibia morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-19T09:46:37Z

[Term]
id: HP:0010505
name: Limitation of movement at ankles
def: "An abnormal limitation of the mobility of the ankle joint." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023800
is_a: HP:0001376 ! Limitation of joint mobility
is_a: HP:0034674 ! Abnormal ankle physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-19T09:47:11Z

[Term]
id: HP:0010506
name: Abnormal plantar dermatoglyphics
def: "An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal dermatoglyphics on feet" EXACT []
synonym: "Abnormal prints on feet" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021258
is_a: HP:0007477 ! Abnormal dermatoglyphics
is_a: HP:0100872 ! Abnormality of the plantar skin of foot
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-19T09:47:44Z

[Term]
id: HP:0010507
name: Foot asymmetry
def: "A difference in size or shape between the left and right foot." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023799
is_a: HP:0001760 ! Abnormal foot morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-19T09:49:04Z

[Term]
id: HP:0010508
name: Metatarsus valgus
def: "A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4082144
is_a: HP:0001832 ! Abnormal metatarsal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-19T09:59:48Z

[Term]
id: HP:0010509
name: Aplasia of the tarsal bones
def: "Absence of the tarsal bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent ankle bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent tarsals" EXACT []
xref: UMLS:C4021257
is_a: HP:0008363 ! Aplasia/Hypoplasia of the tarsal bones
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-19T10:05:13Z

[Term]
id: HP:0010510
name: Hypermobility of toe joints
def: "An ability of the toe joints to move beyond their normal range of motion." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023798
is_a: HP:0001780 ! Abnormal toe morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-19T10:15:12Z

[Term]
id: HP:0010511
name: Long toe
def: "Toes that appear disproportionately long compared to the foot." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
comment: This finding must be distinguished from digits that are thin but of normal length and that of a short mid and hind foot with normal digit lengths. The affected digits should be specified. If only a subset of the digits of a limb is lengthened, the affected digits should be specified.
subset: hposlim_core
synonym: "Increased length of toes" EXACT layperson []
synonym: "Long toe" EXACT layperson []
synonym: "Long toes" EXACT layperson []
xref: UMLS:C3150613
is_a: HP:0001780 ! Abnormal toe morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-19T10:40:43Z

[Term]
id: HP:0010512
name: Adrenal calcification
def: "Calcification within the adrenal glands." [https://orcid.org/0000-0002-0736-9199]
comment: This condition may occur in a wide variety of pathologies, some serious and some with no obvious consequence. Adrenal hemorrhage may be detected as an incidental finding in children in radiographic studies of the abdomen. Etiologies include hemorrhage into the adrenals at or immediately after birth, neuroblastoma, ganglioneuroblastoma, cortical carcinoma, pheochromocytoma, and cysts.
xref: SNOMEDCT_US:12286000
xref: UMLS:C0271750
is_a: HP:0010766 ! Ectopic calcification
is_a: HP:0011732 ! Abnormal adrenal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-19T03:34:26Z

[Term]
id: HP:0010513
name: Pituitary calcification
def: "Deposition of calcium salts in the pituitary gland." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023797
is_a: HP:0011747 ! Abnormality of the anterior pituitary
is_a: HP:0430048 ! Intracranial calcification
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-19T04:09:21Z

[Term]
id: HP:0010514
name: Hyperpituitarism
def: "Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:10649000
xref: UMLS:C0020506
is_a: HP:0011747 ! Abnormality of the anterior pituitary
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-19T04:14:54Z

[Term]
id: HP:0010515
name: Aplasia/Hypoplasia of the thymus
def: "Absence or underdevelopment of the thymus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small thymus" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped thymus" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Thymic hypoplasia or aplasia" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C3278004
xref: UMLS:C4023796
is_a: HP:0000777 ! Abnormal thymus morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-19T04:21:24Z

[Term]
id: HP:0010516
name: Thymus hyperplasia
def: "Enlargement of the thymus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlarged thymus" EXACT layperson []
synonym: "Thymic hyperplasia" EXACT []
xref: UMLS:C0040115
is_a: HP:0000777 ! Abnormal thymus morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-19T04:23:10Z

[Term]
id: HP:0010517
name: Ectopic thymus tissue
def: "The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal thymus position" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023795
is_a: HP:0000777 ! Abnormal thymus morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-19T04:30:35Z

[Term]
id: HP:0010518
name: Thyroglossal cyst
def: "An abnormality of the thyroid gland owing to the presence of a fibrous cyst resulting from the persistence of the thyroglossal duct." [https://orcid.org/0000-0002-0736-9199]
comment: A developmental defect resulting in the presence of a thyroglossal cyst, a fibrous cyst that forms from a persistent thyroglossal duct. During the embryologic development of the thyroid gland, the precursor of the thyroid migrates from the base of the tongue inferiorly though the thyroglossal duct. This duct normally disappears following the development and migration of the thyroid gland, but if a portion of the duct remain it can form a thyroglossal cyst.
subset: hposlim_core
synonym: "Thyroglossal duct cyst" EXACT []
xref: SNOMEDCT_US:39462005
xref: UMLS:C0040124
is_a: HP:0011772 ! Abnormal thyroid morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-19T04:38:04Z

[Term]
id: HP:0010519
name: Increased fetal movement
def: "An abnormal increase in quantity or strength of fetal movements." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fetal hyperkinesia" EXACT []
synonym: "Foetal hyperkinesia" EXACT uk_spelling []
synonym: "Increased foetal movement" EXACT uk_spelling []
xref: UMLS:C4021256
is_a: HP:0001557 ! Prenatal movement abnormality
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-20T10:44:15Z

[Term]
id: HP:0010521
name: Gait apraxia
def: "Gait apraxia affecting the ability to make walking movements with the legs." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:30767006
xref: UMLS:C1510417
is_a: HP:0001288 ! Gait disturbance
is_a: HP:0002186 ! Apraxia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-20T11:01:35Z

[Term]
id: HP:0010522
name: Dyslexia
alt_id: HP:0006871
def: "A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Reading disability" EXACT layperson []
xref: SNOMEDCT_US:52824009
xref: SNOMEDCT_US:59770006
xref: SNOMEDCT_US:9236007
xref: UMLS:C0476254
is_a: HP:0001328 ! Specific learning disability
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-20T11:19:24Z

[Term]
id: HP:0010523
name: Alexia
def: "An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read." [https://orcid.org/0000-0002-0736-9199]
comment: Note that dyslexia refers to a developmental reading disability, whereas alexi arefers to an acquired reading disability related to damage to the brain in an individual in whom reading ability had previously been developed.
synonym: "Text blindness" EXACT layperson []
synonym: "Word blindness" EXACT layperson []
xref: SNOMEDCT_US:9236007
xref: UMLS:C0002018
is_a: HP:0002167 ! Abnormal speech pattern
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-20T11:27:07Z

[Term]
id: HP:0010524
name: Disturbed sensory perception
def: "Alteration or impairment in the processing or interpretation of sensory information can lead to abnormal perceptions or experiences." []
synonym: "Agnosia" EXACT []
xref: SNOMEDCT_US:42341009
xref: UMLS:C0001816
is_a: HP:5200204 ! Disturbed perception with a stimulus
property_value: terms:contributor https://orcid.org/0000-0001-7062-8192
property_value: terms:contributor https://orcid.org/0000-0001-7941-2961
property_value: terms:contributor https://orcid.org/0000-0001-9221-9226
property_value: terms:contributor https://orcid.org/0000-0002-0183-1637
property_value: terms:contributor https://orcid.org/0000-0003-1785-7126
property_value: terms:contributor https://orcid.org/0000-0003-2291-6952
property_value: terms:contributor https://orcid.org/0000-0003-4958-6025
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-20T11:33:03Z

[Term]
id: HP:0010525
name: Finger agnosia
def: "The examiner identified the inability to name, move, or touch specific fingers." []
xref: SNOMEDCT_US:3449007
xref: UMLS:C0234509
is_a: HP:0010524 ! Disturbed sensory perception
property_value: terms:contributor https://orcid.org/0000-0001-7062-8192
property_value: terms:contributor https://orcid.org/0000-0001-7941-2961
property_value: terms:contributor https://orcid.org/0000-0001-9221-9226
property_value: terms:contributor https://orcid.org/0000-0002-0183-1637
property_value: terms:contributor https://orcid.org/0000-0003-1785-7126
property_value: terms:contributor https://orcid.org/0000-0003-2291-6952
property_value: terms:contributor https://orcid.org/0000-0003-4958-6025
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-20T11:37:33Z

[Term]
id: HP:0010526
name: Dysgraphia
def: "A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment." [https://orcid.org/0000-0002-0736-9199]
synonym: "Agraphia" RELATED []
xref: SNOMEDCT_US:88278002
xref: UMLS:C0234144
is_a: HP:0002167 ! Abnormal speech pattern
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-20T11:40:43Z

[Term]
id: HP:0010527
name: Astereognosis
def: "Tactile agnosia refers to the inability to recognize objects by touch, while the inability to discriminate shape and size by touch is also a related condition." []
synonym: "Astereognosis" EXACT []
synonym: "Somatosensory agnosia" EXACT []
xref: SNOMEDCT_US:25094008
xref: UMLS:C0234505
is_a: HP:5200406 ! Tactile agnosia
property_value: terms:contributor https://orcid.org/0000-0001-7062-8192
property_value: terms:contributor https://orcid.org/0000-0001-7941-2961
property_value: terms:contributor https://orcid.org/0000-0001-9221-9226
property_value: terms:contributor https://orcid.org/0000-0002-0183-1637
property_value: terms:contributor https://orcid.org/0000-0003-1785-7126
property_value: terms:contributor https://orcid.org/0000-0003-2291-6952
property_value: terms:contributor https://orcid.org/0000-0003-4958-6025
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-20T11:41:58Z

[Term]
id: HP:0010528
name: Prosopagnosia
def: "Inability to recognize faces of familiar persons." []
synonym: "Face blindness" EXACT layperson []
synonym: "Facial agnosia" EXACT []
xref: SNOMEDCT_US:18358003
xref: UMLS:C0234512
is_a: HP:0010524 ! Disturbed sensory perception
property_value: terms:contributor https://orcid.org/0000-0001-7062-8192
property_value: terms:contributor https://orcid.org/0000-0001-7941-2961
property_value: terms:contributor https://orcid.org/0000-0001-9221-9226
property_value: terms:contributor https://orcid.org/0000-0002-0183-1637
property_value: terms:contributor https://orcid.org/0000-0003-1785-7126
property_value: terms:contributor https://orcid.org/0000-0003-2291-6952
property_value: terms:contributor https://orcid.org/0000-0003-4958-6025
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-20T11:45:49Z

[Term]
id: HP:0010529
name: Echolalia
def: "Echolalia is the automatic imitative repetition of sounds, words, or phrases in the absence of explicit awareness. The repeated words or phrases are typically odd or used in a non-social manner. These can be words or phrases that the affected individual has heard or invented." [PMID:31651053]
synonym: "Echoing another person's speech" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-6548-5200, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389]
synonym: "Echologia" EXACT [https://orcid.org/0000-0001-6908-9849, https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389]
synonym: "Echophrasia" EXACT [https://orcid.org/0000-0001-6908-9849, https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389]
synonym: "Repeated speech" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389]
xref: SNOMEDCT_US:64712007
xref: UMLS:C0013528
xref: UMLS:C4280380
is_a: HP:4000074 ! Involuntary vocalization
property_value: terms:contributor https://orcid.org/0000-0001-5395-5036
property_value: terms:contributor https://orcid.org/0000-0001-6886-767X
property_value: terms:contributor https://orcid.org/0000-0001-8423-2623
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0001-9114-8737
property_value: terms:contributor https://orcid.org/0000-0002-0375-6247
property_value: terms:contributor https://orcid.org/0000-0002-2414-5605
property_value: terms:contributor https://orcid.org/0000-0002-2592-4715
property_value: terms:contributor https://orcid.org/0000-0002-4487-3589
property_value: terms:contributor https://orcid.org/0000-0002-9593-5508
property_value: terms:contributor https://orcid.org/0000-0003-3777-1389
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-20T08:17:27Z

[Term]
id: HP:0010530
name: Palatal tremor
def: "Palatal tremor (PT) is an involuntary, rhythmic and oscillatory movement of the soft palate. PT is a rare type of tremor involving the soft palate. It can be unilateral or bilateral." [https://orcid.org/0000-0002-0736-9199, PMID:33101766]
comment: Previously, PT was known as palatal myoclonus but it was subsequently renamed palatal tremor during the First International Congress of Movement Disorders to acknowledge the continuous and rhythmic nature of the palatal movement. Palatal tremors do not oscillate around a point, unlike any other type of tremor. Palatal tremors can have huge variability in frequency, unlike other commonly-described tremors.
synonym: "Palatal myoclonus" EXACT []
xref: SNOMEDCT_US:9366002
xref: UMLS:C0030214
is_a: HP:0001336 ! Myoclonus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-20T08:50:17Z

[Term]
id: HP:0010531
name: Spinal myoclonus
def: "Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:698836007
xref: UMLS:C3697670
is_a: HP:0001336 ! Myoclonus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-20T08:53:39Z

[Term]
id: HP:0010532
name: Paroxysmal vertigo
def: "Paroxysmal episodes of vertigo." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:103290003
xref: UMLS:C0522357
is_a: HP:0002321 ! Vertigo
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-20T09:12:15Z

[Term]
id: HP:0010533
name: Spasmus nutans
def: "The combination of pendular nystagmus, head nodding, and torticollis." [https://orcid.org/0000-0002-0736-9199, PMID:7499100]
xref: SNOMEDCT_US:18191000
xref: UMLS:C0546878
is_a: HP:0012043 ! Pendular nystagmus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-20T09:19:57Z

[Term]
id: HP:0010534
name: Transient global amnesia
def: "A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:230736007
xref: UMLS:C0338591
is_a: HP:0002354 ! Memory impairment
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-20T09:33:50Z

[Term]
id: HP:0010535
name: Sleep apnea
def: "An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep." []
synonym: "Pauses in breathing while sleeping" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Sleep apnea" EXACT []
synonym: "Sleep apnoea" EXACT []
xref: SNOMEDCT_US:73430006
xref: UMLS:C0037315
is_a: HP:5200283 ! Sleep-related breathing disorders
property_value: terms:contributor https://orcid.org/0000-0001-6262-8264
property_value: terms:contributor https://orcid.org/0000-0001-9446-5121
property_value: terms:contributor https://orcid.org/0000-0002-1592-0825
property_value: terms:contributor https://orcid.org/0000-0002-4672-4923
property_value: terms:contributor https://orcid.org/0000-0002-5554-6946
property_value: terms:contributor https://orcid.org/0000-0002-7367-663X
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-21T08:53:35Z

[Term]
id: HP:0010536
name: Central sleep apnea
def: "Sleep apnea results from a temporary loss of the central drive to the muscles responsible for breathing." [PMID:35551411, PMID:36031317]
synonym: "Central sleep apnoea" EXACT []
xref: UMLS:C0520680
is_a: HP:0010535 ! Sleep apnea
property_value: terms:contributor https://orcid.org/0000-0001-6262-8264
property_value: terms:contributor https://orcid.org/0000-0001-9446-5121
property_value: terms:contributor https://orcid.org/0000-0002-1592-0825
property_value: terms:contributor https://orcid.org/0000-0002-4672-4923
property_value: terms:contributor https://orcid.org/0000-0002-5554-6946
property_value: terms:contributor https://orcid.org/0000-0002-7367-663X
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-21T08:57:02Z

[Term]
id: HP:0010537
name: Wide cranial sutures
def: "An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure)." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Broad cranial sutures" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Diastasis of cranial sutures" EXACT []
synonym: "Large cranial suture" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "open cranial sutures" EXACT []
synonym: "Persistent open cranial sutures" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Sutural diastasis" EXACT []
synonym: "Widened cranial sutures" EXACT []
xref: SNOMEDCT_US:268855009
xref: UMLS:C0410935
is_a: HP:0011329 ! Abnormality of cranial sutures
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-21T09:50:28Z

[Term]
id: HP:0010538
name: Small sella turcica
def: "An abnormally small sella turcica." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Hypoplasia of hypophseal fossa" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplasia of pituitary fossa" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplasia of sella turcica" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Small hypophyseal fossa" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Small pituitary fossa" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023794
xref: UMLS:C4072875
xref: UMLS:C4072876
is_a: HP:0002679 ! Abnormal sella turcica morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-21T10:19:05Z

[Term]
id: HP:0010539
name: Thin calvarium
def: "The presence of an abnormally thin calvarium." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Thin cranial bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thin skull bone" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1856231
xref: UMLS:C4280379
is_a: HP:0002683 ! Abnormal calvaria morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-21T10:21:29Z

[Term]
id: HP:0010540
name: Advanced pneumatization of cranial sinuses
def: "A degree of pneumatization that is increased compared to age-related norms." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023793
is_a: HP:0000245 ! Abnormal paranasal sinus morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-23T10:04:21Z

[Term]
id: HP:0010541
name: Cutis gyrata of scalp
def: "The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cutis verticis gyrata" EXACT []
synonym: "Furrows in thickened skin on top of scalp" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Scalp folds" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Scalp furrows" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Scalp rugae" EXACT []
synonym: "Thickened folds on top of scalp" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thickening of the scalp" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:51603000
xref: UMLS:C0263417
xref: UMLS:C4072877
xref: UMLS:C4280378
is_a: HP:0001965 ! Abnormal scalp morphology
is_a: HP:0011356 ! Regional abnormality of skin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-23T10:15:33Z

[Term]
id: HP:0010542
name: Vestibular nystagmus
def: "Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:46888001
xref: UMLS:C0155379
is_a: HP:0000639 ! Nystagmus
is_a: HP:0031910 ! Abnormal cranial nerve physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-23T10:38:28Z

[Term]
id: HP:0010543
name: Opsoclonus
def: "Bursts of large-amplitude multidirectional saccades without intersaccadic interval" [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123]
comment: Spontaneous, non-rhythmic, multi-directional, chaotic movements of the eyes, giving the appearance of agitation. There may be bursts of conjugate movement of the eyes in varying directions and of varying amplitude.
xref: SNOMEDCT_US:194177006
xref: UMLS:C0242567
is_a: HP:0012547 ! Abnormal involuntary eye movements
is_a: HP:0032104 ! Saccadic oscillation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-23T10:40:51Z

[Term]
id: HP:0010544
name: Vertical nystagmus
def: "Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
xref: SNOMEDCT_US:111533001
xref: UMLS:C0271386
is_a: HP:0000639 ! Nystagmus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-23T10:45:18Z

[Term]
id: HP:0010545
name: Downbeat nystagmus
def: "Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone." [https://orcid.org/0000-0002-0736-9199, PMID:21505601]
xref: SNOMEDCT_US:307676006
xref: UMLS:C0585544
is_a: HP:0010544 ! Vertical nystagmus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-23T10:47:44Z

[Term]
id: HP:0010546
name: Muscle fibrillation
def: "Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole as ascertained by electromyography (EMG). If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG." [https://orcid.org/0000-0002-0736-9199]
synonym: "EMG: fibrillations on electromyogram" EXACT []
synonym: "Twitching" RELATED layperson []
xref: SNOMEDCT_US:41405005
xref: UMLS:C0231531
is_a: HP:0100022 ! Abnormality of movement
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-29T08:23:48Z

[Term]
id: HP:0010547
name: Muscle flaccidity
def: "A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:186611004
xref: SNOMEDCT_US:397488002
xref: UMLS:C0026825
is_a: HP:0001324 ! Muscle weakness
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-09-29T09:21:45Z

[Term]
id: HP:0010548
name: Percussion myotonia
alt_id: HP:0004304
def: "A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Transient swelling of muscle induced by percussion" EXACT []
xref: UMLS:C0751359
is_a: HP:0002486 ! Myotonia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-10-01T08:15:50Z

[Term]
id: HP:0010549
name: Weakness due to upper motor neuron dysfunction
def: "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons." [https://orcid.org/0000-0002-0736-9199]
synonym: "Paralysis due to lesions of the principle motor tracts" EXACT []
xref: UMLS:C4021255
is_a: HP:0002493 ! Upper motor neuron dysfunction
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-10-01T08:30:25Z

[Term]
id: HP:0010550
name: Paraplegia
def: "Severe or complete weakness of both lower extremities with sparing of the upper extremities." [https://orcid.org/0000-0002-0736-9199]
synonym: "Leg paralysis" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:60389000
xref: UMLS:C0030486
is_a: HP:0010551 ! Paraplegia/paraparesis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-10-01T08:32:57Z

[Term]
id: HP:0010551
name: Paraplegia/paraparesis
def: "Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023792
is_a: HP:0010549 ! Weakness due to upper motor neuron dysfunction
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-10-01T08:36:05Z

[Term]
id: HP:0010553
name: Oculogyric crisis
def: "An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:5332004
xref: UMLS:C0085637
is_a: HP:0001332 ! Dystonia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-10-01T08:56:39Z

[Term]
id: HP:0010554
name: Cutaneous finger syndactyly
alt_id: HP:0001214
alt_id: HP:0005637
alt_id: HP:0006054
alt_id: HP:0006220
def: "A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers." [PMID:19125433]
comment: We have set an arguably arbitrary threshold to distinguish the object form the subjective finding. While severe degrees of cutaneous syndactyly are clearly objective, more subtle degrees are subjective. We set this threshold to distinguish these two situations. The digits (or parts of) are joined together by tissue that is not normally present between the digits at that point in the P/D axis. A modifier of "complete" may be used if the cutaneous syndactyly extends to the distal end of the nail bed of the digits. The affected digits should be specified. Note that the unqualified term "syndactyly" is no longer allowed as it is unclear whether this refers to bony or cutaneous syndactyly.
subset: hposlim_core
synonym: "Cutaneous syndactyly of fingers" EXACT []
synonym: "Cutaneous syndactyly of hands" EXACT []
synonym: "Webbed fingers" EXACT layperson [PMID:16200145]
synonym: "Webbed skin of fingers" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021254
is_a: HP:0006101 ! Finger syndactyly
is_a: HP:0012725 ! Cutaneous syndactyly
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-07T10:59:57Z

[Term]
id: HP:0010557
name: Overlapping fingers
def: "A finger resting on the dorsal surface of an adjacent digit when the hand is at rest." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
comment: Overlapping of the fingers occurring as the result of a deviation of the fingers from their normal position. Fingers that are laterally deviated, but do not rest on top of adjacent fingers should be coded as Clinodactyly.
subset: hposlim_core
xref: UMLS:C1446712
is_a: HP:0004097 ! Deviation of finger
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-13T09:21:52Z

[Term]
id: HP:0010558
name: Abnormality of the clivus
def: "An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023791
is_a: HP:0000932 ! Abnormal posterior cranial fossa morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-10-14T09:37:19Z

[Term]
id: HP:0010559
name: Vertical clivus
def: "An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum)." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1844702
is_a: HP:0010558 ! Abnormality of the clivus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-10-14T09:39:04Z

[Term]
id: HP:0010560
name: Undulate clavicles
def: "An abnormally wavy surface or edge of the clavicles." [https://orcid.org/0000-0002-0736-9199]
synonym: "Wavy clavicles" EXACT []
synonym: "Wavy collarbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021253
is_a: HP:0000889 ! Abnormal clavicle morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-10-14T09:52:46Z

[Term]
id: HP:0010561
name: Undulate ribs
def: "An abnormally wavy surface or edge of the ribs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Wavy ribs" EXACT layperson []
xref: UMLS:C1969185
is_a: HP:0000772 ! Abnormal rib morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-10-14T09:56:07Z

[Term]
id: HP:0010562
name: Keloids
subset: hposlim_core
xref: MEDDRA:10023330 "Keloid scar"
xref: SNOMEDCT_US:33659008
xref: SNOMEDCT_US:58405006
xref: UMLS:C0022548
is_a: HP:0000987 ! Atypical scarring of skin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-10-15T07:39:56Z

[Term]
id: HP:0010564
name: Bifid epiglottis
def: "A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:232412004
xref: UMLS:C0339864
is_a: HP:0005483 ! Abnormal epiglottis morphology
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-16T02:20:48Z

[Term]
id: HP:0010565
name: Aplasia/Hypoplasia of the Epiglottis
def: "This term applies if the Epiglottis is absent or hypoplastic." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023790
is_a: HP:0005483 ! Abnormal epiglottis morphology
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-16T02:27:31Z

[Term]
id: HP:0010566
name: Hamartoma
def: "A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:400006008
xref: SNOMEDCT_US:51398009
xref: UMLS:C0018552
is_a: HP:0011792 ! Neoplasm by histology
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-16T02:51:16Z

[Term]
id: HP:0010567
name: Y-shaped metatarsals
def: "Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly." [https://orcid.org/0000-0002-0736-9199]
synonym: "Y-shaped long bone of foot" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023789
is_a: HP:0001832 ! Abnormal metatarsal morphology
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-16T06:50:11Z

[Term]
id: HP:0010568
name: Hamartoma of the eye
def: "A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023788
is_a: HP:0030670 ! Hamartoma of the orbital region
is_a: HP:0100012 ! Neoplasm of the eye
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-17T12:57:24Z

[Term]
id: HP:0010569
name: Elevated circulating 7-dehydrocholesterol concentration
def: "Concentration of 7-dehydrocholesterol in the blood circulation above the upper limit of normal." [https://orcid.org/0000-0002-0736-9199]
comment: Elevated 7-dehydrocholesterol levels occur as the result of a deficiency of the enzyme delta-7-sterol reductase, the penultimate enzyme of mammalian sterol biosynthesis that converts 7-dehydrocholesterol (7-DHC) to cholesterol. This enzyme removes the C(7-8) double bond introduced by the sterol delta8-delta7 isomerases. In addition, its role in drug-induced malformations is known: inhibitors of the last step of cholesterol biosynthesis such as AY9944 and BM15766 severely impair brain development. Homozygous mutations in the gene encoding for this enzyme are the molecular genetic cause of Smith-Lemli-Opitz Syndrome.
synonym: "Elevated levels of cholesta-5,7-dien-3beta-ol" EXACT []
xref: UMLS:C1849185
is_a: HP:0034934 ! Abnormal circulating 7-dehydrocholesterol concentration
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-19T08:49:58Z

[Term]
id: HP:0010570
name: Low maternal circulating alpha-fetoprotein concentration
def: "An abnormally low concentration of serum alpha-fetoprotein as compared to normal values for gestational-age." [https://orcid.org/0000-0002-0736-9199]
comment: Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome.
synonym: "Low maternal serum alpha-fetoprotein" EXACT layperson []
xref: UMLS:C4023787
is_a: HP:0011436 ! Abnormal maternal serum screening
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-10-20T07:01:24Z

[Term]
id: HP:0010571
name: Elevated circulating phytanic acid concentration
def: "An abnormal elevation of phytanic acid." [https://orcid.org/0000-0002-0736-9199]
comment: Phytanic acid (3,7,11,15-tetramethyl hexadecanoic acid) is a fatty acid that is derived from chlorophyll and present in the diet. The metabolism of phytanic acid involves alpha-oxidation in the peroxisome, which converts phytanic acid to pristanic acid. Peroxisomes involved in the catabolism of very long chain fatty acids and phytanic acid. Peroxisomal malfunctioning can lead to over-accumulation of very long chain fatty acids and phytanic acid, among other things.
synonym: "Elevated level of phytanic acid" EXACT []
synonym: "Elevated levels of phytanic acid" EXACT layperson []
xref: UMLS:C4023786
is_a: HP:0010965 ! Abnormal circulating phytanic acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-10-20T07:19:29Z

[Term]
id: HP:0010574
name: Abnormality of the epiphysis of the femoral head
alt_id: HP:0010589
def: "Any abnormality of the proximal epiphysis of the femur." [https://orcid.org/0009-0006-4530-3154]
comment: Note that the proximal epiphysis of the femur is often referred to as the capital femoral epiphysis from the Latin word caput for head.
synonym: "Abnormality of the end part of the innermost thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the proximal femoral epiphysis" EXACT []
xref: UMLS:C4021252
is_a: HP:0003368 ! Abnormal femoral head morphology
is_a: HP:0006499 ! Abnormal femoral epiphysis morphology
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-21T01:28:23Z

[Term]
id: HP:0010575
name: Dysplasia of the femoral head
def: "The presence of developmental dysplasia of the femoral head." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of femoral head development" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Dysplastic femoral head" EXACT []
xref: UMLS:C4021251
xref: UMLS:C4280377
is_a: HP:0003368 ! Abnormal femoral head morphology
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-21T01:30:40Z

[Term]
id: HP:0010576
name: Intracranial cystic lesion
def: "A cystic lesion originating within the brain." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cerebral cystic malformation" EXACT []
xref: UMLS:C4021250
is_a: HP:0030724 ! Central nervous system cyst
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-22T01:38:49Z

[Term]
id: HP:0010577
name: Absent epiphyses
synonym: "Absent end part of bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021862
is_a: HP:0005930 ! Abnormal epiphysis morphology
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-22T02:53:19Z

[Term]
id: HP:0010578
name: Bracket epiphyses
synonym: "Bracket shaped end part of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023785
is_a: HP:0005930 ! Abnormal epiphysis morphology
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-22T02:53:19Z

[Term]
id: HP:0010579
name: Cone-shaped epiphysis
alt_id: HP:0000937
alt_id: HP:0006078
def: "Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cone-shaped end part of bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Cone-shaped epiphyses" EXACT []
synonym: "Coned epiphyses" EXACT []
xref: UMLS:C1865037
is_a: HP:0005930 ! Abnormal epiphysis morphology
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-22T02:53:19Z

[Term]
id: HP:0010580
name: Enlarged epiphyses
alt_id: HP:0003018
alt_id: HP:0003055
alt_id: HP:0005082
def: "Increased size of epiphyses." [https://orcid.org/0000-0002-0736-9199]
synonym: "Large end part of bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Large epiphyses" EXACT []
synonym: "Widened, distorted epiphyses" EXACT []
xref: UMLS:C1833328
is_a: HP:0005930 ! Abnormal epiphysis morphology
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-22T02:53:19Z

[Term]
id: HP:0010582
name: Irregular epiphyses
alt_id: HP:0002765
alt_id: HP:0003039
alt_id: HP:0005007
alt_id: HP:0005023
alt_id: HP:0005749
alt_id: HP:0010581
def: "An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular end part of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1846449
is_a: HP:0005930 ! Abnormal epiphysis morphology
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-22T02:53:19Z

[Term]
id: HP:0010583
name: Ivory epiphyses
def: "Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0009-0006-4530-3154]
synonym: "Epiphyseal sclerosis" EXACT []
synonym: "Increased bone density in end part of bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1856911
is_a: HP:0005930 ! Abnormal epiphysis morphology
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-22T02:53:19Z

[Term]
id: HP:0010584
name: Pseudoepiphyses
xref: UMLS:C1841685
is_a: HP:0005930 ! Abnormal epiphysis morphology
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-22T02:53:19Z

[Term]
id: HP:0010585
name: Small epiphyses
alt_id: HP:0005730
def: "Reduction in the size or volume of epiphyses." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small end part of bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1846803
is_a: HP:0005930 ! Abnormal epiphysis morphology
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-22T02:53:19Z

[Term]
id: HP:0010587
name: Triangular epiphysis
def: "Longitudinal epiphyseal bracket or bracket epiphysis is an uncommon disorder of growth. Alternatively known as a delta phalanx, it is due to an anomalous secondary ossification center that extends longitudinally along the diaphysis. Although rare, longitudinal epiphyseal bracket most commonly manifests in the hands as clinodactyly and in the feet as hallux varus." [PMID:24432108]
synonym: "Longitudinal epiphyseal bracket" EXACT []
synonym: "Triangular end part of bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Triangular epiphyses" EXACT plural_form []
xref: UMLS:C4023784
is_a: HP:0005930 ! Abnormal epiphysis morphology
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-22T02:53:19Z

[Term]
id: HP:0010588
name: Premature epimetaphyseal fusion
def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [https://orcid.org/0000-0002-0736-9199, PMID:12624140]
comment: The epiphysis is the rounded end of a long bone, at its joint with adjacent bone.
synonym: "Premature closure of epiphyses" EXACT []
xref: SNOMEDCT_US:89493005
xref: UMLS:C0151628
is_a: HP:0005930 ! Abnormal epiphysis morphology
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-22T02:53:19Z

[Term]
id: HP:0010590
name: Abnormality of the distal femoral epiphysis
def: "Any abnormality of the distal epiphysis of the femur." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the end part of the outermost thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023783
is_a: HP:0006499 ! Abnormal femoral epiphysis morphology
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-22T03:00:23Z

[Term]
id: HP:0010591
name: Abnormality of the proximal tibial epiphysis
def: "Any abnormality of the proximal epiphysis of the tibia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the end part of innermost shankbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the end part of innermost shinbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023782
is_a: HP:0006508 ! Abnormality of tibial epiphyses
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-22T03:03:04Z

[Term]
id: HP:0010592
name: Abnormality of the distal tibial epiphysis
synonym: "Abnormality of the end part of outermost shankbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the end part of outermost shinbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023781
is_a: HP:0006508 ! Abnormality of tibial epiphyses
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-22T03:03:04Z

[Term]
id: HP:0010593
name: Abnormal fibular epiphysis morphology
synonym: "Abnormality of fibular epiphyses" EXACT []
synonym: "Abnormality of the end part of the calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023780
is_a: HP:0006500 ! Abnormal lower limb epiphysis morphology
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-22T03:03:34Z

[Term]
id: HP:0010594
name: Abnormality of the proximal fibular epiphysis
def: "Any abnormality of the proximal epiphysis of the fibula." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the innermost end part of calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023779
is_a: HP:0010593 ! Abnormal fibular epiphysis morphology
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-22T03:04:39Z

[Term]
id: HP:0010595
name: Abnormality of the distal fibular epiphysis
def: "Any abnormality of the distal epiphysis of the fibula." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the outermost end part of calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023778
is_a: HP:0010593 ! Abnormal fibular epiphysis morphology
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-22T03:04:39Z

[Term]
id: HP:0010596
name: Abnormality of the proximal radial epiphysis
def: "Any abnormality of the proximal epiphysis of the radius." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023777
is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow
is_a: HP:0003999 ! Abnormality of radial epiphyses
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-22T03:06:29Z

[Term]
id: HP:0010597
name: Abnormality of the distal radial epiphysis
def: "Any abnormality of the distal epiphysis of the radius." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023776
is_a: HP:0003999 ! Abnormality of radial epiphyses
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-22T03:06:29Z

[Term]
id: HP:0010598
name: Abnormality of the proximal humeral epiphysis
def: "Any abnormality of the proximal epiphysis of the humerus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the end part of the innermost long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023775
is_a: HP:0003891 ! Abnormal humeral epiphysis morphology
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-22T06:40:29Z

[Term]
id: HP:0010599
name: Abnormality of the distal humeral epiphysis
def: "Any abnormality of the distal epiphysis of the humerus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the end part of the outermost long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023774
is_a: HP:0003891 ! Abnormal humeral epiphysis morphology
is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-22T06:40:29Z

[Term]
id: HP:0010600
name: Abnormal distal ulnar epiphysis morphology
def: "Any abnormality of the distal epiphysis of the ulna." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the distal ulnar epiphysis" EXACT []
xref: UMLS:C4023773
is_a: HP:0004037 ! Abnormal ulnar epiphysis morphology
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-22T06:41:21Z

[Term]
id: HP:0010601
name: Abnormal proximal ulnar epiphysis morphology
def: "Any abnormality of the proximal epiphysis of the ulna." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the proximal ulnar epiphysis" EXACT []
xref: UMLS:C4023772
is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow
is_a: HP:0004037 ! Abnormal ulnar epiphysis morphology
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-22T06:41:21Z

[Term]
id: HP:0010602
name: Type 2 muscle fiber predominance
def: "An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Type 2 muscle fibre predominance" EXACT uk_spelling []
synonym: "Type II muscle fiber predominance" EXACT []
synonym: "Type II muscle fibre predominance" EXACT uk_spelling []
xref: UMLS:C3277187
is_a: HP:0033684 ! Abnormal muscle fiber-type distribution
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-10-25T09:56:24Z

[Term]
id: HP:0010603
name: Odontogenic keratocysts of the jaw
def: "A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behavior." [https://orcid.org/0000-0002-0736-9199, PMID:18353202]
comment: Keratocystic odontogenic tumor (KCOT) most commonly affects the mandible, but may also be localized in the maxilla.
synonym: "Keratocystic odontogenic tumor" EXACT []
synonym: "Keratocystic odontogenic tumour" EXACT uk_spelling []
synonym: "Keratocysts of the jaw" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1708604
is_a: HP:0100612 ! Odontogenic neoplasm
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-27T02:26:31Z

[Term]
id: HP:0010604
name: Cyst of the eyelid
synonym: "Cyst of the eyelid" EXACT layperson []
synonym: "Eyelid bump" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Eyelid mass" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Lesion of the eyelid" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:248514008
xref: SNOMEDCT_US:301913002
xref: SNOMEDCT_US:46210008
xref: UMLS:C0155218
xref: UMLS:C0424844
xref: UMLS:C0578590
is_a: HP:0010732 ! Nodular changes affecting the eyelids
is_a: HP:0200040 ! Epidermoid cyst
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-27T10:57:50Z

[Term]
id: HP:0010605
name: Chalazion
def: "A chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland. A chalazion or meibomian cyst appears as a painless tuberous swelling in the upper lid without loss of eyelashes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Meibomian gland lipogranuloma" EXACT [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:1482004
xref: UMLS:C0007933
is_a: HP:0010604 ! Cyst of the eyelid
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-27T10:58:24Z

[Term]
id: HP:0010606
name: Hordeolum
def: "An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling." [https://orcid.org/0009-0006-4530-3154]
synonym: "Red bump on eyelid" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Stye of eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:1489008
xref: SNOMEDCT_US:397513003
xref: UMLS:C0019917
xref: UMLS:C4280376
is_a: HP:0010732 ! Nodular changes affecting the eyelids
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-27T11:01:13Z

[Term]
id: HP:0010607
name: Hordeolum externum
def: "Hordeola externa are acute purulent infections affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll, often caused by staphylococcus infections. In contrast to chalazia, hordeola are extremely painfull and can cause extreme local swelling." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:1489008
xref: UMLS:C0019919
is_a: HP:0010606 ! Hordeolum
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-27T11:33:07Z

[Term]
id: HP:0010608
name: Hordeolum internum
def: "Hordeola interna are acute purulent infections affecting the meibomian sebacious glands, often caused by staphylococcus infections. In contrast to chalazia (chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland), hordeola are extremely painfull and can cause extreme local swelling." [https://orcid.org/0000-0002-0736-9199]
synonym: "Red bump on inner eyelid" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Stye of inner eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:414521009
xref: UMLS:C0085690
xref: UMLS:C4280375
is_a: HP:0010606 ! Hordeolum
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-27T11:33:25Z

[Term]
id: HP:0010609
name: Skin tags
def: "Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region." [https://orcid.org/0009-0006-4530-3154]
synonym: "Acrochorda" EXACT []
xref: SNOMEDCT_US:201091002
xref: SNOMEDCT_US:31069005
xref: SNOMEDCT_US:80801001
xref: UMLS:C0037293
is_a: HP:0011355 ! Localized skin lesion
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-27T11:41:03Z

[Term]
id: HP:0010610
name: Palmar pits
xref: SNOMEDCT_US:247449001
xref: UMLS:C0423776
is_a: HP:0040211 ! Abnormal skin morphology of the palm
is_a: HP:0100276 ! Skin pit
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-28T01:23:05Z

[Term]
id: HP:0010612
name: Plantar pits
def: "The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1852301
is_a: HP:0100276 ! Skin pit
is_a: HP:0100872 ! Abnormality of the plantar skin of foot
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-28T01:25:57Z

[Term]
id: HP:0010614
name: Fibroma
def: "Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term \"fibroblastic\" or \"fibromatous\" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors." [https://orcid.org/0000-0002-0736-9199]
xref: NCIT:C3041
xref: SNOMEDCT_US:112682009
xref: SNOMEDCT_US:424568000
xref: UMLS:C0016045
is_a: HP:0012316 ! Fibrous tissue neoplasm
is_a: HP:0030448 ! Soft tissue sarcoma
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-28T05:52:39Z

[Term]
id: HP:0010615
name: Angiofibromas
def: "Angiofibroma consist of many often dilated vessels." [https://orcid.org/0000-0002-0736-9199]
xref: NCIT:C3799
xref: SNOMEDCT_US:302857002
xref: SNOMEDCT_US:60392001
xref: UMLS:C0206731
is_a: HP:0010614 ! Fibroma
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-28T06:00:14Z

[Term]
id: HP:0010616
name: Lung fibroma
def: "The presence of a lung fibroma, a benign neoplasm that can present as a mass causing airway obstruction, cough, and hemoptysis, or present without symptoms as a solitary pulmonary nodule." [https://orcid.org/0000-0002-0736-9199]
xref: NCIT:C3041
xref: SNOMEDCT_US:707387004
xref: UMLS:C1334444
is_a: HP:0010614 ! Fibroma
is_a: HP:0100526 ! Neoplasm of the lung
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-28T06:04:01Z

[Term]
id: HP:0010617
name: Cardiac fibroma
def: "A fibroma of the heart." [https://orcid.org/0000-0002-0736-9199]
xref: NCIT:C3041
xref: UMLS:C1096654
is_a: HP:0010614 ! Fibroma
is_a: HP:0100544 ! Neoplasm of the heart
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-28T06:13:11Z

[Term]
id: HP:0010618
name: Ovarian fibroma
def: "The presence of a fibroma of the ovary." [https://orcid.org/0000-0002-0736-9199]
comment: Ovarian fibromas belong to the sex cord-stromal tumor group of ovarian neoplasms. Ovarian fibromas are most frequent during middle age, and rare in children. Upon gross pathological inspection, ovary fibromas are firm and white or tan.
xref: NCIT:C3041
xref: SNOMEDCT_US:254865006
xref: UMLS:C0149951
is_a: HP:0010614 ! Fibroma
is_a: HP:0100615 ! Ovarian neoplasm
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-28T06:13:11Z

[Term]
id: HP:0010619
name: Fibroadenoma of the breast
def: "A benign biphasic tumor of the breast with epithelial and stromal components." [https://orcid.org/0000-0002-0736-9199, PMID:23396888]
comment: A connective tissue tumor of the breast which is usually benign and painless. Fibromas of the breast are more common in young woman.
synonym: "Breast fibroadenoma" EXACT []
synonym: "Breast fibroadenomas" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Breast fibroadenosis" EXACT []
synonym: "Fibroadenosis - breast" EXACT []
synonym: "Fibroadenosis of breast" EXACT []
xref: NCIT:C3744
xref: SNOMEDCT_US:254845004
xref: UMLS:C0178421
is_a: HP:0010614 ! Fibroma
is_a: HP:0100013 ! Neoplasm of the breast
property_value: dc:creator "sandra1" xsd:string
creation_date: 2009-10-28T06:13:11Z

[Term]
id: HP:0010620
name: Malar prominence
alt_id: HP:0000310
def: "Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face." [https://orcid.org/0000-0002-9602-2321]
comment: Increased prominence of the malar region (cheeks), as manifested by anterior positioning of the infraorbital and perialar regions or increased convexity of the face or increased naso-labial angle.
subset: hposlim_core
synonym: "Hyperplasia of malar bones" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Malar excess" EXACT []
synonym: "Malar hyperplasia" EXACT []
synonym: "Prominent malar region" EXACT []
xref: UMLS:C1858732
xref: UMLS:C4280374
is_a: HP:0010668 ! Abnormal zygomatic bone morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-11-02T07:53:02Z

[Term]
id: HP:0010621
name: Cutaneous syndactyly of toes
alt_id: HP:0001990
alt_id: HP:0004707
alt_id: HP:0010555
def: "A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
subset: hposlim_core
synonym: "Cutaneous syndactyly of feet" EXACT []
synonym: "soft tissue syndactyly of toes" EXACT []
synonym: "Webbed skin of toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1834737
is_a: HP:0001770 ! Toe syndactyly
is_a: HP:0012725 ! Cutaneous syndactyly
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-11-18T10:32:21Z

[Term]
id: HP:0010622
name: Neoplasm of the skeletal system
def: "A tumor (abnormal growth of tissue) of the skeleton." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bone neoplasm" RELATED []
synonym: "Neoplasia of the skeletal system" NARROW []
synonym: "Skeletal tumor" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Skeletal tumour" EXACT uk_spelling []
xref: NCIT:C3262
xref: SNOMEDCT_US:442868003
xref: UMLS:C2732838
xref: UMLS:C4020771
is_a: HP:0011793 ! Neoplasm by anatomical site
is_a: HP:0011842 ! Abnormal skeletal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-06-25T08:54:46Z

[Term]
id: HP:0010624
name: Aplastic/hypoplastic toenail
alt_id: HP:0008381
alt_id: HP:0008389
def: "Absence or underdevelopment of the toenail." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small toenails" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped toenails" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Aplastic/hypoplastic toenails" EXACT []
synonym: "Hypoplastic-absent toenails" EXACT []
xref: UMLS:C1856749
is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails
is_a: HP:0008388 ! Abnormal toenail morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-11-20T05:55:11Z

[Term]
id: HP:0010625
name: Anterior pituitary dysgenesis
def: "Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199]
synonym: "Adenohypophysis" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:62818001
xref: UMLS:C0032008
xref: UMLS:C4023771
is_a: HP:0011747 ! Abnormality of the anterior pituitary
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-12-05T03:03:17Z

[Term]
id: HP:0010626
name: Anterior pituitary agenesis
def: "Absence of the anterior pituitary gland resulting from a developmental defect." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-5316-1399]
synonym: "Absent pituitary gland" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Aplasia of the pituitary gland" EXACT []
xref: UMLS:C4021249
is_a: HP:0010625 ! Anterior pituitary dysgenesis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-12-05T03:04:20Z

[Term]
id: HP:0010627
name: Anterior pituitary hypoplasia
alt_id: HP:0008238
def: "Underdevelopment of the anterior pituitary gland." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplasia of the pituitary gland" RELATED []
synonym: "Small anterior pituitary lobe" EXACT []
synonym: "Underdeveloped pituitary gland" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C0948740
xref: UMLS:C1859775
is_a: HP:0010625 ! Anterior pituitary dysgenesis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-12-05T03:04:48Z

[Term]
id: HP:0010628
name: Facial palsy
alt_id: HP:0000296
alt_id: HP:0000302
alt_id: HP:0000344
alt_id: HP:0000353
alt_id: HP:0002008
alt_id: HP:0002259
alt_id: HP:0002517
alt_id: HP:0004670
alt_id: HP:0007212
alt_id: HP:0200004
def: "Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form." [https://orcid.org/0009-0006-4530-3154]
comment: Several conditions can cause a facial paralysis, e.g. brain tumor, stroke, and Lyme disease. However, if no specific cause can be identified, the condition is known as Bell's palsy. Named after Scottish anatomist Charles Bell, who first described it. Bell's palsy is the most common acute mononeuropathy (disease involving only one nerve) and is the most common cause of acute facial nerve paralysis.
subset: hposlim_core
synonym: "Bell's palsy" EXACT layperson []
synonym: "Cranial nerve VII palsy" EXACT []
synonym: "Facial muscle weakness of muscles innervated by CN VII" RELATED []
synonym: "Facial nerve palsy" EXACT []
synonym: "Facial nerve paralysis" EXACT []
synonym: "Facial palsy, unilateral or bilateral" EXACT []
synonym: "Seventh cranial nerve palsy" EXACT []
synonym: "VII th cranial nerve palsy" EXACT []
xref: SNOMEDCT_US:193093009
xref: SNOMEDCT_US:95666008
xref: UMLS:C0376175
xref: UMLS:C0427055
xref: UMLS:C1858719
is_a: HP:0001324 ! Muscle weakness
is_a: HP:0006824 ! Cranial nerve paralysis
is_a: HP:0010827 ! Abnormal seventh cranial physiology
is_a: HP:0030319 ! Weakness of facial musculature
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-12-06T05:08:30Z

[Term]
id: HP:0010629
name: Abnormal morphology of the cortex of the humerus
def: "Any abnormality affecting the cortex of the humerus." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023770
is_a: HP:0003103 ! Abnormal cortical bone morphology
is_a: HP:0031095 ! Abnormal humerus morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-12-06T05:45:26Z

[Term]
id: HP:0010630
name: Abnormal metatarsal epiphysis morphology
def: "Any abnormality of a metatarsal bone epiphysis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of end part of long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of metatarsal epiphysis" EXACT []
synonym: "Abnormality of the epiphyses of the metatarsals" EXACT []
xref: UMLS:C4021248
is_a: HP:0001832 ! Abnormal metatarsal morphology
is_a: HP:0010631 ! Abnormality of the epiphyses of the feet
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-12-06T05:58:36Z

[Term]
id: HP:0010631
name: Abnormality of the epiphyses of the feet
def: "Any abnormality of the epiphyses of the feet." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the end part of the foot bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023769
is_a: HP:0006500 ! Abnormal lower limb epiphysis morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-12-06T06:00:04Z

[Term]
id: HP:0010632
name: Total anosmia
def: "Inability to detect any qualitative olfactory sensation." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023768
is_a: HP:0000458 ! Anosmia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-12-06T07:51:50Z

[Term]
id: HP:0010633
name: Partial anosmia
def: "Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants)." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023767
is_a: HP:0000458 ! Anosmia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-12-06T07:52:37Z

[Term]
id: HP:0010634
name: Total hyposmia
def: "Reduced ability to detect any qualitative olfactory sensation." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023766
is_a: HP:0004409 ! Hyposmia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-12-06T07:54:13Z

[Term]
id: HP:0010635
name: Partial hyposmia
def: "Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants)." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023765
is_a: HP:0004409 ! Hyposmia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-12-06T07:54:13Z

[Term]
id: HP:0010636
name: Schizencephaly
def: "The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:253159001
xref: SNOMEDCT_US:38353004
xref: UMLS:C0266484
is_a: HP:0002060 ! Abnormal cerebral morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-12-06T08:05:54Z

[Term]
id: HP:0010637
name: Conjunctival amyloidosis
def: "A form of amyloidosis that affects the conjunctiva." [https://orcid.org/0000-0002-0736-9199]
comment: The deposition of amyloid, a noncollagenous protein, in the conjunctiva, which presents as a discrete, nontender, nonulcerative, waxy, yellow-white subconjunctival tissue.
xref: SNOMEDCT_US:59017008
xref: UMLS:C0268402
is_a: HP:0000502 ! Abnormal conjunctiva morphology
is_a: HP:0011034 ! Amyloidosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2009-12-07T03:20:51Z

[Term]
id: HP:0010638
name: Elevated alkaline phosphatase of hepatic origin
def: "An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Elevated ALP of hepatic origin" EXACT abbreviation []
xref: UMLS:C4023764
is_a: HP:0010679 ! Elevated tissue non-specific alkaline phosphatase
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-12-11T03:47:19Z

[Term]
id: HP:0010639
name: Elevated alkaline phosphatase of bone origin
alt_id: HP:0008266
def: "An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [https://orcid.org/0000-0002-0736-9199]
comment: Bone alkaline phosphatase (BALP) is encoded by the tissue non-specific form of alkaline phosphatase and thus is an isoform of this isoenzyme.
synonym: "Elevated alkaline phosphatase of bone origin" EXACT layperson []
synonym: "Elevated ALP of bone origin" EXACT abbreviation []
synonym: "Increased serum bone-specific alkaline phosphatase" EXACT layperson []
xref: UMLS:C1833667
is_a: HP:0010679 ! Elevated tissue non-specific alkaline phosphatase
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-12-11T03:47:19Z

[Term]
id: HP:0010640
name: Abnormal nasal cavity morphology
def: "Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the nasal cavity" EXACT []
xref: UMLS:C4023763
is_a: HP:0005105 ! Abnormal nasal morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-12-17T04:56:17Z

[Term]
id: HP:0010641
name: Abnormality of the midnasal cavity
def: "Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4021861
is_a: HP:0010640 ! Abnormal nasal cavity morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-12-17T04:58:21Z

[Term]
id: HP:0010643
name: Midnasal atresia
def: "Absence or abnormal closure of the midnasal cavity." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023762
is_a: HP:0010644 ! Midnasal stenosis
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-12-17T05:06:01Z

[Term]
id: HP:0010644
name: Midnasal stenosis
alt_id: HP:0010642
def: "Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress." [https://orcid.org/0000-0002-0736-9199]
synonym: "Midnasal atresia or stenosis" EXACT []
xref: UMLS:C1840238
is_a: HP:0010641 ! Abnormality of the midnasal cavity
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2009-12-17T05:06:01Z

[Term]
id: HP:0010645
name: Aplasia of the distal phalanges of the toes
def: "Absence of the distal phalanges of the toes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent outermost bone of the toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023761
is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes
is_a: HP:0010745 ! Aplasia of the phalanges of the toes
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-02-17T02:41:47Z

[Term]
id: HP:0010646
name: Cervical spine instability
def: "An abnormal lack of stability of the cervical spine." [https://orcid.org/0000-0002-0736-9199]
comment: The cervical spine is made up of two anatomically and functionally distinct segments: the upper cervical spine (C1and C2), which possesses the most rotational mobility with some degrees of frontal and sagittal plane mobility, and the lower cervical spine, which allows for two types of movements - flexion-extension and inclination-rotation. Cervical instability mainly involves the upper cervical spine, particularly between C1 and C2. Craniocervical ligaments are the main determinants of cervical spine stability.
xref: SNOMEDCT_US:202821008
xref: UMLS:C0410652
is_a: HP:0003319 ! Abnormality of the cervical spine
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-02-23T11:15:32Z

[Term]
id: HP:0010647
name: Abnormal elasticity of skin
def: "Any abnormal increase or reduction in skin elasticity." [https://orcid.org/0000-0003-1773-4011]
xref: UMLS:C4023760
is_a: HP:0011121 ! Abnormal skin morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-02-23T11:42:34Z

[Term]
id: HP:0010648
name: Dermal translucency
def: "An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Translucent skin" EXACT []
xref: UMLS:C1836646
is_a: HP:0011121 ! Abnormal skin morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-02-23T11:50:37Z

[Term]
id: HP:0010649
name: Flat nasal alae
def: "An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Depressed nasal alae" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Flat nasal alar cartilage" NARROW [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023759
is_a: HP:0000429 ! Abnormal morphology of the nasal alae
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-02-25T10:01:47Z

[Term]
id: HP:0010650
name: Hypoplasia of the premaxilla
def: "An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures." [https://orcid.org/0000-0001-5889-4463, https://orcid.org/0000-0002-0736-9199, PMID:19125436]
subset: hposlim_core
synonym: "Decreased size of premaxilla" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of the primary palate bone" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplasia of the intermaxillary bone" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplasia of the primary palate bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Premaxillary bone deficiency" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Premaxillary bone retrusion" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Premaxillary retrusion" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Premaxillary underdevelopment" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Primary palate bone deficiency" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Primary palate bone retrusion" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Small premaxilla" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Small primary palate bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of premaxilla" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of the premaxilla" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of the primary palate bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4020770
xref: UMLS:C4072878
is_a: HP:0002692 ! Hypoplastic facial bones
is_a: HP:0010756 ! Aplasia/Hypoplasia of the premaxilla
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-02-25T10:11:43Z

[Term]
id: HP:0010651
name: Abnormal meningeal morphology
def: "An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the meninges" EXACT []
xref: UMLS:C4023758
is_a: HP:0002011 ! Morphological central nervous system abnormality
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-02-25T10:19:40Z

[Term]
id: HP:0010652
name: Abnormal dura mater morphology
def: "An abnormality of the Dura mater." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the dura mater" EXACT []
xref: UMLS:C4023757
is_a: HP:0010651 ! Abnormal meningeal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-02-25T10:29:40Z

[Term]
id: HP:0010653
name: Abnormality of the falx cerebri
def: "An abnormality of the Falx cerebri." [https://orcid.org/0000-0002-0736-9199]
comment: The falx cerebri refers to the fold of dura mater which descends vertically in the longitudinal fissure between the cerebral hemispheres.
synonym: "Abnormality of the cerebral falx" EXACT []
xref: UMLS:C4021247
is_a: HP:0010652 ! Abnormal dura mater morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-02-25T10:32:52Z

[Term]
id: HP:0010654
name: Aplasia of the falx cerebri
def: "A developmental defect characterized by aplasia of the Falx cerebri." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent cerebral falx" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023756
is_a: HP:0010653 ! Abnormality of the falx cerebri
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-02-25T10:35:26Z

[Term]
id: HP:0010655
name: Epiphyseal stippling
alt_id: HP:0002658
alt_id: HP:0010586
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses." [https://orcid.org/0000-0002-0736-9199]
comment: Stippling resolves with maturation of the epiphysis but is often replaced by some permanent epiphyseal abnormality.
synonym: "Epiphyseal punctate calcifications" EXACT []
synonym: "Speckled calcifications in end part of bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Stippled epiphyses" EXACT []
synonym: "Stippling of the epiphyses" EXACT []
xref: SNOMEDCT_US:360507004
xref: UMLS:C1859126
is_a: HP:0005930 ! Abnormal epiphysis morphology
is_a: HP:0010656 ! Abnormal epiphyseal ossification
is_a: HP:0010766 ! Ectopic calcification
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-02-25T09:41:24Z

[Term]
id: HP:0010656
name: Abnormal epiphyseal ossification
def: "An abnormality of the formation and mineralization of an epiphysis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal maturation of the end part of a bone" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the mineralisation or ossification of the epiphyses" EXACT []
xref: UMLS:C4021246
is_a: HP:0003336 ! Abnormal enchondral ossification
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-02-25T09:43:04Z

[Term]
id: HP:0010657
name: Patchy reduction of bone mineral density
def: "Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023755
is_a: HP:0002797 ! Osteolysis
is_a: HP:0004349 ! Reduced bone mineral density
is_a: HP:0010658 ! Patchy changes of bone mineral density
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-02-25T10:32:54Z

[Term]
id: HP:0010658
name: Patchy changes of bone mineral density
def: "Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density)." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023754
is_a: HP:0004348 ! Abnormality of bone mineral density
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-02-25T10:42:39Z

[Term]
id: HP:0010659
name: Patchy variation in bone mineral density
def: "Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays." [https://orcid.org/0000-0002-0736-9199]
synonym: "Patchy increased and decreased bone mineral density" EXACT layperson []
xref: UMLS:C4021245
is_a: HP:0004349 ! Reduced bone mineral density
is_a: HP:0010658 ! Patchy changes of bone mineral density
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-02-25T10:49:23Z

[Term]
id: HP:0010660
name: Abnormal hand bone ossification
alt_id: HP:0005921
def: "An abnormality of the formation and mineralization of any bone of the skeleton of hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal maturation of the hand bones" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormal ossification of hand bones" EXACT []
synonym: "Abnormality of the mineralisation and ossification of bones of the hand" EXACT []
xref: UMLS:C4021244
is_a: HP:0003336 ! Abnormal enchondral ossification
is_a: HP:0005922 ! Abnormal hand morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-02-25T05:18:19Z

[Term]
id: HP:0010661
name: Absence of the third cerebral ventricle
def: "A developmental defect characterized by the absence of the third ventricle." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023753
is_a: HP:0010951 ! Abnormal third ventricle morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-02-26T08:00:47Z

[Term]
id: HP:0010662
name: Abnormal diencephalon morphology
def: "An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain." [https://orcid.org/0000-0002-0736-9199]
comment: The diencephalon comprises the thalamus, hypothalamus, epithalamus, prethalamus or subthalamus and pretectum.
synonym: "Abnormality of the diencephalon" EXACT []
xref: UMLS:C4023752
is_a: HP:0100547 ! Abnormal forebrain morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-02-26T08:02:38Z

[Term]
id: HP:0010663
name: Abnormal thalamus morphology
def: "An abnormality of the thalamus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal shape of thalamus" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of thalamus morphology" EXACT []
synonym: "Abnormality of the thalamus" EXACT []
xref: UMLS:C4021243
is_a: HP:0010662 ! Abnormal diencephalon morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-02-26T08:03:50Z

[Term]
id: HP:0010664
name: Fusion of the left and right thalami
def: "A developmental defect characterized by fusion of the left and right halves of the thalamus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fused thalami" EXACT []
synonym: "Fusion of thamali" RELATED []
synonym: "Undivided thalami" EXACT []
xref: UMLS:C1834930
xref: UMLS:C4020769
is_a: HP:0010663 ! Abnormal thalamus morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-02-26T08:04:37Z

[Term]
id: HP:0010665
name: Bilateral coxa valga
def: "The presence of bilateral coxa valga." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C3810018
is_a: HP:0002673 ! Coxa valga
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-02-26T08:07:03Z

[Term]
id: HP:0010666
name: Hypoplasia of the anterior nasal spine
def: "Underdevelopment of the anterior nasal spine of maxilla." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased length of anterior nasal spine" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased projection of anterior nasal spine" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of anterior nasal spine" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Deficiency of anterior nasal spine" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypotrophic anterior nasal spine" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Small anterior nasal spine" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of anterior nasal spine" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023751
xref: UMLS:C4280372
xref: UMLS:C4280373
is_a: HP:0000327 ! Hypoplasia of the maxilla
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-02-26T08:10:11Z

[Term]
id: HP:0010667
name: Aplasia of the maxilla
def: "A congenital defect characterized by absence of the Maxilla." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absence of the maxilla" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Absence of upper jaw bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Agenesis of the maxilla" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Aplasia of the upper jaw bones" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of maxilla" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of upper jaw bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing upper jaw bones" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023750
xref: UMLS:C4280371
is_a: HP:0000326 ! Abnormal maxilla morphology
is_a: HP:0040008 ! Aplasia of facial bones
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-02-26T08:11:45Z

[Term]
id: HP:0010668
name: Abnormal zygomatic bone morphology
alt_id: HP:0012369
def: "An abnormality of the zygomatic bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal malar bone morphology" EXACT []
synonym: "Abnormality of the cheekbone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the zygomatic bone" EXACT []
synonym: "Anomaly of the zygomatic bone" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the cheekbone" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the zygomatic bone" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the zygomatic bone" NARROW [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023749
is_a: HP:0000309 ! Abnormal midface morphology
is_a: HP:0011821 ! Abnormal facial skeleton morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-02-26T08:13:11Z

[Term]
id: HP:0010669
name: Hypoplasia of the zygomatic bone
def: "Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch." [https://orcid.org/0000-0001-5889-4463, https://orcid.org/0000-0002-0736-9199, PMID:19125436]
synonym: "Cheekbone underdevelopment" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of cheekbone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of zygomatic bone" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Depressed cheekbone" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Depressed zygomatic bone" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Flattening of the zygomatic bone" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplasia of cheekbone" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypotrophic cheekbone" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypotrophic zygomatic bone" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypotrophy of the cheekbone" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypotrophy of the zygomatic bone" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Small cheekbone" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Small malar bone" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Small zygomatic bone" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of cheekbone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of zygomatic bone" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4021242
xref: UMLS:C4072879
xref: UMLS:C4280368
xref: UMLS:C4280369
xref: UMLS:C4280370
is_a: HP:0002692 ! Hypoplastic facial bones
is_a: HP:0010668 ! Abnormal zygomatic bone morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-02-26T08:14:04Z

[Term]
id: HP:0010672
name: Abnormality of the third metatarsal bone
def: "An abnormality of the third metatarsal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the 3rd long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023748
is_a: HP:0001832 ! Abnormal metatarsal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-02-26T08:22:51Z

[Term]
id: HP:0010674
name: Abnormal curvature of the vertebral column
def: "The presence of an abnormal curvature of the vertebral column." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal curve of the backbone" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Abnormal curve of the spine" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Abnormal curving of the spine" EXACT []
synonym: "Abnormality of the curvature of the vertebral column" EXACT []
synonym: "Curvature of spine" EXACT []
synonym: "Curved spine" EXACT []
xref: UMLS:C4023747
is_a: HP:0000925 ! Abnormality of the vertebral column
property_value: dc:creator "sandra1" xsd:string
creation_date: 2010-02-27T06:28:19Z

[Term]
id: HP:0010675
name: Abnormal foot bone ossification
alt_id: HP:0008370
alt_id: HP:0009133
def: "An abnormality of the formation and mineralization of any bone of the skeleton of foot." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal maturation of foot bones" RELATED [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormal ossification involving bones of the feet" RELATED []
synonym: "Abnormality of the mineralisation and ossification of bones of the feet" EXACT []
xref: UMLS:C4020768
xref: UMLS:C4021241
xref: UMLS:C4280367
is_a: HP:0001760 ! Abnormal foot morphology
is_a: HP:0003336 ! Abnormal enchondral ossification
property_value: dc:creator "sandra1" xsd:string
creation_date: 2010-02-28T05:27:47Z

[Term]
id: HP:0010676
name: Mechanical ileus
xref: SNOMEDCT_US:46420000
xref: UMLS:C0400843
is_a: HP:0002595 ! Ileus
property_value: dc:creator "sandra1" xsd:string
creation_date: 2010-03-01T08:43:38Z

[Term]
id: HP:0010677
name: Enuresis nocturna
def: "Enuresis occurring during sleeping hours." [https://orcid.org/0009-0006-4530-3154]
synonym: "Nocturnal enuresis" EXACT []
xref: SNOMEDCT_US:8009008
xref: UMLS:C0270327
is_a: HP:0000805 ! Enuresis
property_value: dc:creator "sandra1" xsd:string
creation_date: 2010-03-01T09:11:31Z

[Term]
id: HP:0010678
name: Enuresis diurna
def: "Enuresis occurring during waking hours of the day." [https://orcid.org/0009-0006-4530-3154]
xref: UMLS:C4023746
is_a: HP:0000805 ! Enuresis
property_value: dc:creator "sandra1" xsd:string
creation_date: 2010-03-01T09:11:51Z

[Term]
id: HP:0010679
name: Elevated tissue non-specific alkaline phosphatase
def: "An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [https://orcid.org/0000-0002-0736-9199]
comment: Tissue non-specific alkaline phosphatase (ALPP) is one of four distinct but related alkaline phosphatases. Entrez Gene ID 249, Uniprot P05186 (PPBT_HUMAN). The gene is also known as alkaline phosphatase, liver/bone/kidney (ALPL).
synonym: "Elevated alkaline phosphatase, liver/bone/kidney" EXACT []
synonym: "Elevated tissue non-specific ALP" EXACT abbreviation []
xref: UMLS:C4021240
is_a: HP:0003155 ! Elevated circulating alkaline phosphatase concentration
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-03-05T11:08:35Z

[Term]
id: HP:0010680
name: Elevated alkaline phosphatase of renal origin
def: "An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Elevated ALP of renal origin" EXACT abbreviation []
xref: UMLS:C4023745
is_a: HP:0010679 ! Elevated tissue non-specific alkaline phosphatase
is_a: HP:0012211 ! Abnormal renal physiology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-03-05T11:09:59Z

[Term]
id: HP:0010681
name: Elevated intestinal alkaline phosphatase
def: "An abnormally increased level of alkaline phosphatase, intestinal type in the blood." [https://orcid.org/0000-0002-0736-9199]
comment: Intestinal alkaline phosphatase (IAP) is one of four distinct but related alkaline phosphatases. Entrez Gene ID:248, Uniprot ID: P09923 (PPBI_HUMAN).
synonym: "Elevated intestinal ALP" EXACT abbreviation []
xref: UMLS:C4023744
is_a: HP:0003155 ! Elevated circulating alkaline phosphatase concentration
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-03-05T11:10:34Z

[Term]
id: HP:0010682
name: Elevated placental alkaline phosphatase
def: "An abnormally increased level of alkaline phosphatase, placental type in the blood." [https://orcid.org/0000-0002-0736-9199]
comment: Placental alkaline phosphatase (ALPP) is one of four distinct but related alkaline phosphatases. Entrez Gene ID 250, Uniprot P05187 (PPB1_HUMAN).
synonym: "Elevated placental ALP" EXACT abbreviation []
xref: UMLS:C4023743
is_a: HP:0003155 ! Elevated circulating alkaline phosphatase concentration
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-03-05T11:11:06Z

[Term]
id: HP:0010683
name: Low tissue non-specific alkaline phosphatase
def: "An abnormally reduced level of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Low tissue non-specific ALP" EXACT abbreviation []
xref: UMLS:C4023742
is_a: HP:0003282 ! Decreased circulating alkaline phosphatase activity
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-03-05T11:12:08Z

[Term]
id: HP:0010684
name: Low alkaline phosphatase of bone origin
def: "An abnormally reduced level of bone isoforms of alkaline phosphatase in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Low ALP of bone origin" EXACT abbreviation []
xref: UMLS:C4023741
is_a: HP:0003282 ! Decreased circulating alkaline phosphatase activity
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-03-05T11:12:47Z

[Term]
id: HP:0010685
name: Low alkaline phosphatase of renal origin
def: "An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Low ALP of renal origin" EXACT abbreviation []
xref: UMLS:C4023740
is_a: HP:0003282 ! Decreased circulating alkaline phosphatase activity
is_a: HP:0012211 ! Abnormal renal physiology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-03-05T11:12:47Z

[Term]
id: HP:0010686
name: Low alkaline phosphatase of hepatic origin
def: "An abnormally reduced level of liver isoforms of alkaline phosphatase in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Low ALP of hepatic origin" EXACT abbreviation []
xref: UMLS:C4023739
is_a: HP:0003282 ! Decreased circulating alkaline phosphatase activity
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-03-05T11:12:47Z

[Term]
id: HP:0010687
name: Low intestinal alkaline phosphatase
def: "An abnormally reduced level of alkaline phosphatase, intestinal type in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Low intestinal ALP" EXACT abbreviation []
xref: UMLS:C4023738
is_a: HP:0003282 ! Decreased circulating alkaline phosphatase activity
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-03-05T11:13:10Z

[Term]
id: HP:0010688
name: Low placental alkaline phosphatase
def: "An abnormally reduced level of alkaline phosphatase, placental type in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Low placental ALP" EXACT abbreviation []
xref: UMLS:C4023737
is_a: HP:0003282 ! Decreased circulating alkaline phosphatase activity
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-03-05T11:13:28Z

[Term]
id: HP:0010689
name: Mirror image polydactyly
def: "A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand/foot typically resemble fifth fingers/toes." [https://orcid.org/0009-0006-4530-3154, PMID:19125433]
comment: Transplantation of the ZPA (zone of polarized activity) to the anterior margin of a limb bud in the chick results in mirror image duplication of limb elements (Tabin, 1991). Similarly, mirror image duplication in the forelimb of the mouse has been observed with ectopic expression of Hox b-8 (Charit6 et al, 1994). Mirror hand anomaly in humans has been shown to be due to either aberrant positioning of the ZPA or altered inductive interactions of the Shh gene resulting in impairment of the mechanism responsible for the organization and differentiation of the limb bud, rather than a primary duplication event. In other words, the primary event results in failure of the radial ray to develop. The ulnar area will then induce the differentiation of two groups of ulnar rays. Timing of this insult could play a critical role in severity of this phenotypic feature. Syndromal mirror hand is probably due to agene mutation of the Shh gene (Hersh et al, 1995). Finally, the multiple hand deformity may be explained by true duplication of the ZPA.
synonym: "Mirror image duplication of digits" EXACT []
xref: SNOMEDCT_US:715440003
xref: UMLS:C1851100
is_a: HP:0010442 ! Polydactyly
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-03-05T05:03:16Z

[Term]
id: HP:0010690
name: Mirror image hand polydactyly
def: "Mirror image duplication of digits affecting the hands only." [https://orcid.org/0009-0006-4530-3154]
subset: hposlim_core
synonym: "Mirror image duplication of fingers" EXACT layperson []
xref: UMLS:C4021239
is_a: HP:0001161 ! Hand polydactyly
is_a: HP:0010689 ! Mirror image polydactyly
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-03-05T05:05:05Z

[Term]
id: HP:0010691
name: Mirror image foot polydactyly
def: "Mirror image duplication of digits affecting the feet." [https://orcid.org/0009-0006-4530-3154]
synonym: "Mirror image duplication of toes" EXACT layperson []
xref: UMLS:C4021238
is_a: HP:0001829 ! Foot polydactyly
is_a: HP:0010689 ! Mirror image polydactyly
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-03-05T05:05:05Z

[Term]
id: HP:0010692
name: obsolete 2-5 finger syndactyly
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
is_obsolete: true
replaced_by: HP:0005650
creation_date: 2010-03-05T06:41:50Z

[Term]
id: HP:0010693
name: Pulverulent cataract
def: "A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally." [HPO_CONTRIBUTOR:vkumar, https://orcid.org/0000-0002-0736-9199]
comment: The word "pulverulent " means dust-like and refers to the dustlike appearance of the punctate opacities in this type of cataract. The word pulverulent refers to the very small size of the punctate opacities (like flecks of dust) rather than to a dust-like color.
synonym: "Pulverulent cataract" EXACT layperson []
xref: UMLS:C1833118
is_a: HP:0007648 ! Punctate cataract
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-03-11T02:49:53Z

[Term]
id: HP:0010694
name: Lamellar pulverulent cataract
def: "A Lamellar cataract with a pulverulent (punctate, \"dust-like\" opacities) appearance." [https://orcid.org/0000-0002-0736-9199]
comment: Opacities located in the perinuclear (lamellar) zones of the lens.
xref: UMLS:C4023735
is_a: HP:0007971 ! Lamellar cataract
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-03-20T11:43:14Z

[Term]
id: HP:0010695
name: Sutural cataract
def: "A type of congenital cataract in which the opacity follows the anterior or posterior Y suture." [https://orcid.org/0000-0002-0736-9199]
comment: During lens terminal differentiation, the originally cuboidal lens vesicle cells elongate into long fiber-like cells, or fibers. Y-shaped sutures form because of how the lens epithelial cells proliferate during formation. The Y sutures demarcate the boundaries between the lens cortex, which is peripheral to the Y sutures, and the lens nucleus, which is within and includes the Y sutures. The anterior Y suture is oriented upright, and the posterior Y suture is inverted.
xref: UMLS:C4023734
is_a: HP:0010920 ! Zonular cataract
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-03-20T12:07:04Z

[Term]
id: HP:0010696
name: Polar cataract
def: "A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C2025392
is_a: HP:0000518 ! Cataract
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-03-20T02:36:22Z

[Term]
id: HP:0010697
name: Anterior pyramidal cataract
def: "A type of anterior polar cataract which projects as a conical opacity into the anterior chamber." [https://orcid.org/0000-0002-0736-9199]
synonym: "Pyramidal cataract" RELATED []
xref: UMLS:C1392099
is_a: HP:0001134 ! Anterior polar cataract
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-03-20T02:38:57Z

[Term]
id: HP:0010698
name: Nuclear pulverulent cataract
def: "A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus." [https://orcid.org/0000-0002-0736-9199, PMID:10634616, PMID:14059288]
synonym: "cataracta pulverulenta centralis" EXACT []
synonym: "Central pulverulent cataract" EXACT []
synonym: "Coppock-like cataract" EXACT []
synonym: "Pulverulent nuclear cataract" EXACT []
xref: UMLS:C4021237
is_a: HP:0010693 ! Pulverulent cataract
is_a: HP:0010925 ! Nuclear punctate cataract
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-03-20T02:53:02Z

[Term]
id: HP:0010699
name: Triangular nuclear cataract
def: "A nuclear cataract with a triangular form." [https://orcid.org/0000-0002-0736-9199, PMID:18483562]
xref: UMLS:C4023733
is_a: HP:0100018 ! Nuclear cataract
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-03-20T02:58:26Z

[Term]
id: HP:0010700
name: obsolete Total cataract
is_obsolete: true
replaced_by: HP:0000518

[Term]
id: HP:0010701
name: Abnormal circulating immunoglobulin concentration
alt_id: HP:0100032
def: "An abnormal deviation from normal levels of immunoglobulins in blood." [https://orcid.org/0000-0002-0736-9199]
comment: 'has part' some (amount and ('inheres in' some (IMR_0002090 and ('part of' some blood))) and ('has modifier' some abnormal))
synonym: "Abnormal immunoglobulin concentration" EXACT []
synonym: "Abnormal immunoglobulin level" EXACT []
synonym: "Abnormal serum immunoglobulin concentration" EXACT []
synonym: "Abnormal serum immunoglobulin levels" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Abnormal serum level of immunoglobulin" EXACT []
synonym: "Immunoglobulin abnormality" EXACT []
xref: UMLS:C1855755
is_a: HP:0005368 ! Abnormality of humoral immunity
is_a: HP:0005372 ! Abnormality of B cell physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-03-22T08:17:49Z

[Term]
id: HP:0010702
name: Increased circulating immunoglobulin concentration
alt_id: HP:0002852
alt_id: HP:0004314
alt_id: HP:0004435
def: "An increased level of gamma globulin (immunoglobulin) in the blood." [https://orcid.org/0000-0002-0736-9199]
comment: In humans, immunoglobulins comprise the five antibody isotypes IgA, IgD, IgE, IgG and IgM.
synonym: "Elevated immunoglobulin levels" EXACT []
synonym: "Hypergammaglobulinaemia" EXACT []
synonym: "Hypergammaglobulinemia" EXACT []
synonym: "Hyperglobulinemia" EXACT []
synonym: "Increased antibody level in blood" EXACT layperson []
synonym: "Increased circulating antibody concentration" EXACT layperson []
synonym: "Increased circulating antibody level" EXACT layperson []
synonym: "Increased gamma globulin" EXACT []
synonym: "Increased immunoglobulin level" EXACT []
synonym: "Increased serum gamma globulin" EXACT []
synonym: "Raised immunoglobulin levels" EXACT []
xref: SNOMEDCT_US:127388009
xref: SNOMEDCT_US:129646001
xref: UMLS:C0020455
xref: UMLS:C0151669
xref: UMLS:C0541985
xref: UMLS:C1306857
xref: UMLS:C2048011
is_a: HP:0010701 ! Abnormal circulating immunoglobulin concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-03-22T08:20:07Z

[Term]
id: HP:0010704
name: 1-2 finger cutaneous syndactyly
def: "A soft tissue continuity in the anteroposterior axis between the thumb to the index finger that extends distally to at least the level of the proximal interphalangeal joints." [https://orcid.org/0009-0006-4530-3154]
synonym: "Webbed 1st-2nd finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Webbed thumb and index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023732
is_a: HP:0010554 ! Cutaneous finger syndactyly
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-03-26T05:07:14Z

[Term]
id: HP:0010705
name: 4-5 finger cutaneous syndactyly
def: "A soft tissue continuity in the anteroposterior axis between the fourth (ring) to the fifth (little) finger that extends distally to at least the level of the proximal interphalangeal joints." [https://orcid.org/0009-0006-4530-3154]
synonym: "Webbed 4th-5th finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023731
is_a: HP:0010554 ! Cutaneous finger syndactyly
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-03-26T05:12:44Z

[Term]
id: HP:0010706
name: 1-3 finger cutaneous syndactyly
def: "A soft tissue continuity in the anteroposterior axis between the thumb to the middle finger that extends distally to at least the level of the proximal interphalangeal joints." [https://orcid.org/0009-0006-4530-3154]
synonym: "Webbed 1st-3rd finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023730
is_a: HP:0010554 ! Cutaneous finger syndactyly
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-03-26T05:12:44Z

[Term]
id: HP:0010707
name: 1-4 finger cutaneous syndactyly
def: "A soft tissue continuity in the anteroposterior axis between the thumb to the ring finger that extends distally to at least the level of the proximal interphalangeal joints." [https://orcid.org/0009-0006-4530-3154]
synonym: "Webbed 1st-4th finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023729
is_a: HP:0010554 ! Cutaneous finger syndactyly
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-03-26T05:12:44Z

[Term]
id: HP:0010708
name: 1-5 finger cutaneous syndactyly
def: "A soft tissue continuity in the anteroposterior axis between the thumb to the little finger that extends distally to at least the level of the proximal interphalangeal joints (complete syndactyly of all fingers of the hand)." [https://orcid.org/0009-0006-4530-3154]
synonym: "Webbed 1-5 fingers" EXACT []
synonym: "Webbed 1st-5th fingers" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023728
is_a: HP:0010554 ! Cutaneous finger syndactyly
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-03-26T05:12:44Z

[Term]
id: HP:0010709
name: 2-4 finger cutaneous syndactyly
alt_id: HP:0005797
alt_id: HP:0006018
def: "A soft tissue continuity in the anteroposterior axis between the second (index) to the fourth (ring) finger that extends distally to at least the level of the proximal interphalangeal joints." [https://orcid.org/0009-0006-4530-3154]
synonym: "Syndactyly of second to fourth fingers" EXACT []
synonym: "Webbed index through ring fingers" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021236
is_a: HP:0010554 ! Cutaneous finger syndactyly
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-03-26T05:12:44Z

[Term]
id: HP:0010710
name: 3-5 finger syndactyly
def: "A soft tissue continuity in the anteroposterior axis between the middle to little fingers that extends distally to at least the level of the proximal interphalangeal joints." [https://orcid.org/0009-0006-4530-3154]
synonym: "Webbed third, fourth and fifth toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023727
is_a: HP:0010492 ! Osseous finger syndactyly
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-03-26T05:12:44Z

[Term]
id: HP:0010711
name: 1-2 toe syndactyly
def: "Syndactyly with fusion of toes one and two." [https://orcid.org/0009-0006-4530-3154]
synonym: "Webbed 1st-2nd toes" EXACT []
synonym: "Webbed first and second toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023726
is_a: HP:0001770 ! Toe syndactyly
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-03-26T05:22:26Z

[Term]
id: HP:0010712
name: 1-4 toe syndactyly
def: "Syndactyly with fusion of toes one to four." [https://orcid.org/0009-0006-4530-3154]
synonym: "Webbed first through fourth toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023725
is_a: HP:0001770 ! Toe syndactyly
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-03-26T05:22:26Z

[Term]
id: HP:0010713
name: 1-5 toe syndactyly
alt_id: HP:0005812
def: "Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot)." [https://orcid.org/0009-0006-4530-3154]
synonym: "Syndactyly of all toes" EXACT []
synonym: "Webbed 1st-5th toes" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4021235
is_a: HP:0001770 ! Toe syndactyly
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-03-26T05:22:26Z

[Term]
id: HP:0010714
name: 2-4 toe syndactyly
alt_id: HP:0005642
alt_id: HP:0005708
def: "Syndactyly with fusion of toes two to four." [https://orcid.org/0009-0006-4530-3154]
synonym: "Syndactyly of toes 2, 3 and 4" EXACT []
synonym: "Syndactyly toes 2-4" EXACT []
synonym: "Webbed 2nd-4th toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021234
is_a: HP:0001770 ! Toe syndactyly
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-03-26T05:22:26Z

[Term]
id: HP:0010715
name: 2-5 toe syndactyly
def: "Syndactyly with fusion of toes two to five." [https://orcid.org/0009-0006-4530-3154]
synonym: "Webbed 2nd-5th toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023724
is_a: HP:0001770 ! Toe syndactyly
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-03-26T05:22:26Z

[Term]
id: HP:0010716
name: 3-5 toe syndactyly
def: "Syndactyly with fusion of toes three to five." [https://orcid.org/0009-0006-4530-3154]
synonym: "Webbed 3rd-5th toes" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023723
is_a: HP:0001770 ! Toe syndactyly
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-03-26T05:22:26Z

[Term]
id: HP:0010717
name: Osseous syndactyly of toes
def: "Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \"Symphalangism\"." [https://orcid.org/0009-0006-4530-3154]
subset: hposlim_core
synonym: "Osseous syndactyly of the toes" EXACT []
xref: SNOMEDCT_US:32113001
xref: SNOMEDCT_US:38859008
xref: UMLS:C0158738
is_a: HP:0001770 ! Toe syndactyly
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-03-26T05:31:50Z

[Term]
id: HP:0010719
name: Abnormality of hair texture
alt_id: HP:0002295
alt_id: HP:0003776
def: "An abnormality of the texture of the hair." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of hair consistency" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of hair curl pattern" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of hair texture" EXACT layperson []
synonym: "Abnormality of hair volume" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023722
xref: UMLS:C4072880
xref: UMLS:C4072881
xref: UMLS:C4073290
is_a: HP:0001595 ! Abnormal hair morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-20T09:41:53Z

[Term]
id: HP:0010720
name: Abnormal hair pattern
def: "An abnormality of the distribution of hair growth." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal distribution of hair" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormal hair pattern" EXACT layperson []
xref: UMLS:C4023721
is_a: HP:0001595 ! Abnormal hair morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-20T09:53:15Z

[Term]
id: HP:0010721
name: Abnormal hair whorl
def: "An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal hair whorl" EXACT layperson []
synonym: "Abnormal hair whorls" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Abnormal whorl of hair" EXACT layperson []
xref: UMLS:C3280303
is_a: HP:0011361 ! Congenital abnormal hair pattern
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-20T10:05:04Z

[Term]
id: HP:0010722
name: Asymmetry of the ears
def: "An asymmetriy, i.e., difference in size, shape or position between the left and right ear." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Asymmetric ears" EXACT layperson []
xref: UMLS:C1168239
is_a: HP:0000357 ! Abnormal location of ears
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-20T10:11:45Z

[Term]
id: HP:0010723
name: Cystic lesions of the pinnae
alt_id: HP:0008557
xref: UMLS:C4023720
is_a: HP:0000377 ! Abnormal pinna morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-20T10:17:01Z

[Term]
id: HP:0010724
name: Advanced pneumatization of the mastoid process
def: "An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
xref: UMLS:C4021828
is_a: HP:0000264 ! Abnormal mastoid morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-20T10:38:57Z

[Term]
id: HP:0010726
name: Prominent corneal nerve fibers
def: "Abnormal prominence of the corneal nerve fibers." [HPO_CONTRIBUTOR:DDD_ncarter, https://orcid.org/0000-0002-0736-9199]
synonym: "Myelinated corneal nerves" EXACT []
synonym: "Peripheral corneal nerve myelination" EXACT []
synonym: "Peripheral myelinating corneal nerve fibers" EXACT []
synonym: "Prominent corneal nerve fibres" EXACT uk_spelling []
synonym: "Visible corneal nerve fibers" EXACT []
synonym: "Visible corneal nerve fibres" EXACT uk_spelling []
xref: UMLS:C4021233
is_a: HP:0011492 ! Abnormal corneal stroma morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-20T10:52:24Z

[Term]
id: HP:0010727
name: Spontaneous rupture of the globe
def: "Rupture of the eyeball not due to trauma." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
xref: UMLS:C4023719
is_a: HP:0012372 ! Abnormal eye morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-20T11:05:28Z

[Term]
id: HP:0010728
name: Aplasia of the retina
def: "A developmental defect characterized by absence of the retina." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent retina" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023718
is_a: HP:0008061 ! Aplasia/Hypoplasia of the retina
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-20T11:09:59Z

[Term]
id: HP:0010729
name: Cherry red spot of the macula
def: "Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparency of the macula." [https://orcid.org/0000-0002-0736-9199]
synonym: "Macular cherry red spot" EXACT []
xref: UMLS:C2216370
is_a: HP:0000630 ! Abnormal retinal artery morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-20T11:14:11Z

[Term]
id: HP:0010730
name: Double eyebrow
def: "This may present as a partial or complete duplication of the eyebrows." [https://orcid.org/0009-0006-4530-3154]
comment: Double eyebrow is commonly a feature of Mowat Wilson syndrome.
subset: hposlim_core
synonym: "Double eyebrow" EXACT layperson []
synonym: "Duplication of eyebrow" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:253209004
xref: UMLS:C0431449
is_a: HP:0000534 ! Abnormal eyebrow morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-21T04:16:59Z

[Term]
id: HP:0010731
name: Extension of eyebrows towards upper eyelid
def: "The eyebrows extend towards - or even all the way down to - the margin of the upper eyelid." [https://orcid.org/0009-0006-4530-3154]
comment: This is commonly a feature of Jacobson syndrome.
synonym: "Extension of eyebrows towards upper eyelid" EXACT layperson []
xref: UMLS:C4023717
is_a: HP:0011229 ! Broad eyebrow
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-21T04:46:32Z

[Term]
id: HP:0010732
name: Nodular changes affecting the eyelids
def: "Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more." [https://orcid.org/0009-0006-4530-3154]
synonym: "Eyelid nodules" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023716
is_a: HP:0000492 ! Abnormal eyelid morphology
is_a: HP:0200036 ! Skin nodule
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-21T05:11:04Z

[Term]
id: HP:0010733
name: Naevus flammeus of the eyelid
def: "Naevus flammeus localized in the skin of the eyelid." [https://orcid.org/0009-0006-4530-3154]
synonym: "Port-wine stain on eyelid" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1854409
is_a: HP:0001052 ! Nevus flammeus
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-21T05:18:41Z

[Term]
id: HP:0010734
name: Fibrous dysplasia of the bones
def: "Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia)." [https://orcid.org/0009-0006-4530-3154]
xref: SNOMEDCT_US:10623005
xref: UMLS:C0016063
is_a: HP:0003330 ! Abnormal bone structure
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-21T06:27:42Z

[Term]
id: HP:0010735
name: Polyostotic fibrous dysplasia
def: "Fibrous dysplasia of the bones were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome." [https://orcid.org/0009-0006-4530-3154]
xref: SNOMEDCT_US:36517007
xref: UMLS:C0016065
is_a: HP:0010734 ! Fibrous dysplasia of the bones
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-21T06:31:50Z

[Term]
id: HP:0010736
name: Monostotic fibrous dysplasia
def: "Fibrous dysplasia of the bones were lesions are localized in only one bone." [https://orcid.org/0009-0006-4530-3154]
xref: SNOMEDCT_US:89859004
xref: UMLS:C0016064
is_a: HP:0010734 ! Fibrous dysplasia of the bones
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-21T06:31:50Z

[Term]
id: HP:0010739
name: Osteopoikilosis
def: "Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake." [https://orcid.org/0009-0006-4530-3154]
xref: SNOMEDCT_US:9147009
xref: UMLS:C0029455
is_a: HP:0011001 ! Increased bone mineral density
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-21T07:19:11Z

[Term]
id: HP:0010740
name: Osteopathia striata
def: "A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance." [https://orcid.org/0009-0006-4530-3154]
xref: SNOMEDCT_US:82663009
xref: UMLS:C0265513
is_a: HP:0031367 ! Metaphyseal striations
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-21T07:30:24Z

[Term]
id: HP:0010741
name: Pedal edema
def: "An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg." [https://orcid.org/0000-0002-0736-9199]
synonym: "Dependant edema" RELATED []
synonym: "Dependant oedema" RELATED uk_spelling []
synonym: "Edema of the lower limbs" EXACT []
synonym: "Fluid accumulation in lower limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Leg edema" EXACT []
synonym: "Leg oedema" EXACT uk_spelling []
synonym: "Lower leg swelling" EXACT layperson []
synonym: "Oedema of the lower limbs" EXACT uk_spelling []
synonym: "Pedal oedema" EXACT uk_spelling []
synonym: "Peripheral edema of lower extremity" EXACT []
synonym: "Peripheral oedema of lower extremity" EXACT uk_spelling []
xref: SNOMEDCT_US:102572006
xref: UMLS:C0235886
xref: UMLS:C0239340
is_a: HP:0000969 ! Edema
is_a: HP:0002814 ! Abnormality of the lower limb
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-22T02:16:54Z

[Term]
id: HP:0010742
name: Edema of the upper limbs
def: "An abnormal accumulation of fluid beneath the skin of the arms." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fluid accumulation in upper limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Oedema of the upper limbs" EXACT uk_spelling []
xref: SNOMEDCT_US:102558002
xref: UMLS:C0522035
is_a: HP:0000969 ! Edema
is_a: HP:0002817 ! Abnormality of the upper limb
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-22T02:17:15Z

[Term]
id: HP:0010743
name: Short metatarsal
alt_id: HP:0001779
alt_id: HP:0001865
alt_id: HP:0003092
alt_id: HP:0004706
alt_id: HP:0005754
def: "Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
comment: This is a subjective assessment and one generally compares the position of the MTP joint to that of the contralateral digit or the putatively shortened ray in proportion to the other rays. The affected digits should be specified.
subset: hposlim_core
synonym: "Hypoplasia of the metatarsal bones" EXACT []
synonym: "Hypoplastic metatarsals" EXACT []
synonym: "Short long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Short metatarsal bone" EXACT []
synonym: "Short metatarsal bones" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Short metatarsals" EXACT []
synonym: "Shortened metatarsals" EXACT []
xref: UMLS:C1849020
is_a: HP:0001964 ! Aplasia/Hypoplasia of metatarsal bones
is_a: HP:0003026 ! Short long bone
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-22T04:30:18Z

[Term]
id: HP:0010744
name: Absent metatarsal bone
def: "A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Aplasia of the metatarsal bones" EXACT []
xref: UMLS:C4021232
is_a: HP:0001964 ! Aplasia/Hypoplasia of metatarsal bones
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-22T04:30:18Z

[Term]
id: HP:0010745
name: Aplasia of the phalanges of the toes
def: "Absence of a digit or of one or more phalanges of a toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent bones of the toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Aphalangia of the toes" EXACT []
xref: UMLS:C4021231
is_a: HP:0009817 ! Aplasia involving bones of the lower limbs
is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-22T04:33:06Z

[Term]
id: HP:0010746
name: Hypoplasia of the phalanges of the toes
synonym: "Small toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023715
is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-22T04:33:06Z

[Term]
id: HP:0010747
name: Medial flaring of the eyebrow
def: "An abnormal distribution of eyebrow hair growth in the medial direction." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Medially flared eyebrows" EXACT []
xref: UMLS:C1844562
is_a: HP:0000534 ! Abnormal eyebrow morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-23T09:29:58Z

[Term]
id: HP:0010748
name: Ectopic lacrimal punctum
def: "Positioning of a lacrimal punctum other than at the medial margins of the eyelid." [PMID:19125427]
comment: The openings of the tear ducts are normally located at the medial margin of each eyelid. The opening on the lower eyelid border is more visible than the opening on the upper eyelid border. Ectopic positions can include the upper eyelid, nasal bridge, or inferior to medial aspect of the lower lid.
subset: hposlim_core
synonym: "Abnormal position of the lacrimal punctum" EXACT []
xref: UMLS:C4021230
is_a: HP:0011479 ! Abnormal lacrimal punctum morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-23T09:35:56Z

[Term]
id: HP:0010749
name: Blepharochalasis
def: "Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads." [PMID:3207663]
comment: Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads. Most of these atrophic patients do not go through a hypertrophic phase. Multiple attacks of eyelid edema result in thinning, stretching, and atrophy of eyelid tissues. The eyelid skin becomes redundant, discolored, and atrophic, appearing like wrinkled cigarette paper. The upper eyelids are more commonly affected, but the lower eyelids may also be involved. Blepharochalasis is not synonymous with dermatochalasis.
subset: hposlim_core
synonym: "Saggy upper eyelid skin" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:47704002
xref: UMLS:C0005742
is_a: HP:0100540 ! Palpebral edema
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-23T09:53:13Z

[Term]
id: HP:0010750
name: Dermatochalasis
def: "Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge." [https://orcid.org/0000-0002-0736-9199]
synonym: "Baggy eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Droopy eyelid skin" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Extra eyelid skin" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Eyelid dermatochalasia" EXACT []
synonym: "Hooding of eyelids" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Redundant eyelid skin" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:246815009
xref: UMLS:C0423124
xref: UMLS:C2674149
is_a: HP:0000492 ! Abnormal eyelid morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-23T10:07:56Z

[Term]
id: HP:0010751
name: Dimple chin
def: "A persistent midline depression of the skin over the fat pad of the chin." [PMID:19125436]
subset: hposlim_core
synonym: "Chin butt" EXACT layperson []
synonym: "Chin dent" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Chin dimple" EXACT layperson []
synonym: "Chin dimples" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Chin skin dimple" EXACT layperson []
synonym: "Dimple chin" EXACT layperson []
synonym: "Gelasin of chin" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Indentation of chin" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1849227
is_a: HP:0000306 ! Abnormality of the chin
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-23T10:29:03Z

[Term]
id: HP:0010752
name: Cleft mandible
def: "Midline deficiency of the mandible and some or all overlying tissues." [PMID:19125436]
subset: hposlim_core
synonym: "Cleft lower jaw" EXACT layperson []
synonym: "Mandibular cleft" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:92822004
xref: UMLS:C0685786
is_a: HP:0010753 ! Midline defect of mandible
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-23T10:32:09Z

[Term]
id: HP:0010753
name: Midline defect of mandible
synonym: "Midline cleft of mandible" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023714
is_a: HP:0000277 ! Abnormal mandible morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-23T10:32:46Z

[Term]
id: HP:0010754
name: Abnormality of the temporomandibular joint
def: "An anomaly of the temporomandibular joint." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the jaw joint" EXACT layperson []
synonym: "Anomaly of the temporomandibular joint" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the jaw joint" EXACT layperson []
synonym: "Deformity of the temporomandibular joint" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Derangement of the temporomandibular joint" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of jaw joint" EXACT layperson []
synonym: "Malformation of the temporomandibular joint" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:248401009
xref: SNOMEDCT_US:75630004
xref: UMLS:C0266941
xref: UMLS:C0424721
xref: UMLS:C1865318
xref: UMLS:C4280366
is_a: HP:0000277 ! Abnormal mandible morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-23T10:36:28Z

[Term]
id: HP:0010755
name: Asymmetry of the maxilla
def: "Asymmetry between the left and right sides of the maxilla." [https://orcid.org/0000-0001-5889-4463]
subset: hposlim_core
synonym: "Asymmetry of right and left side of the maxilla" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Asymmetry of the upper jaw" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Asymmetry of upper jaw" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Canted maxilla" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Canted upper jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Crooked maxilla" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Crooked upper jaw" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deviation of the maxilla" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Deviation of the upper jaw" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Tilted maxilla" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Tilted upper jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Unequal sides of maxilla" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Uneven maxilla" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Uneven upper jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:235083001
xref: UMLS:C0399519
is_a: HP:0000326 ! Abnormal maxilla morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-23T10:38:44Z

[Term]
id: HP:0010756
name: Aplasia/Hypoplasia of the premaxilla
def: "Absence or underdevelopment of the premaxilla." [https://orcid.org/0000-0002-0736-9199]
synonym: "Aplasia/hypoplasia of the intermaxillary bone" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Aplasia/hypoplasia of the primary palate bone" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023713
is_a: HP:0010758 ! Abnormality of the premaxilla
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-23T10:40:40Z

[Term]
id: HP:0010757
name: Aplasia of the premaxilla
def: "Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absence of the intermaxillary bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Absence of the premaxilla" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Absence of the primary palate bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Aplasia of the intermaxillary bone" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Aplasia of the primary palate bone" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of premaxilla" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of the primary palate bone" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing premaxilla" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing primary palate bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023712
is_a: HP:0010756 ! Aplasia/Hypoplasia of the premaxilla
is_a: HP:0040008 ! Aplasia of facial bones
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-23T10:42:17Z

[Term]
id: HP:0010758
name: Abnormality of the premaxilla
def: "An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate." [https://orcid.org/0000-0001-5889-4463, https://orcid.org/0009-0006-4530-3154]
synonym: "Abnormality of the intermaxillary bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the intermaxillary segment of the maxilla" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the premaxillary bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the primary palate bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023711
is_a: HP:0000326 ! Abnormal maxilla morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-23T10:59:07Z

[Term]
id: HP:0010759
name: Prominence of the premaxilla
def: "Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla." [https://orcid.org/0000-0001-5889-4463, https://orcid.org/0009-0006-4530-3154, PMID:19125436]
comment: As a consequence of prominence of the premaxilla, the overlying structures, the nose and philtrum, may appear prominent. There is increased convexity of the face and an increased nasolabial angle. In the presence of a normal sized mandible, retrognathia may be appreciated.
subset: hposlim_core
synonym: "Anterior position of the premaxilla" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Anterior position of the primary palate bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Premaxillary bone excess" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Prominence of the intermaxillary bone" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Prominence of the primary palate bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Prominent premaxilla" EXACT []
xref: UMLS:C2749369
is_a: HP:0010758 ! Abnormality of the premaxilla
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-23T11:01:23Z

[Term]
id: HP:0010760
name: Absent toe
alt_id: HP:0008084
alt_id: HP:0010108
alt_id: HP:0011306
def: "Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues." [https://orcid.org/0000-0002-0736-9199]
comment: This descriptor does NOT require absence of the metatarsal. The definition excludes partial absent hallux.
subset: hposlim_core
synonym: "Absent toe" EXACT layperson []
synonym: "Absent toes" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Aplasia of the toes" RELATED []
synonym: "Aplasia of toe" EXACT []
xref: UMLS:C3553754
is_a: HP:0001991 ! Aplasia/Hypoplasia of toe
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-23T03:58:25Z

[Term]
id: HP:0010761
name: Broad columella
def: "Increased width of the columella." [PMID:19152422]
subset: hposlim_core
synonym: "Columella, broad" EXACT []
synonym: "Columella, wide" EXACT []
synonym: "Fullness of columella" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Hyperplasia of columella" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased width of columella" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1851059
xref: UMLS:C4280365
is_a: HP:0009929 ! Abnormal columella morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-04-24T11:52:54Z

[Term]
id: HP:0010762
name: Chordoma
def: "A chordoma is a tumor that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis." [https://orcid.org/0000-0002-0736-9199]
comment: The notochord is a mesodermal embryonic structure that defines the primitive axis of the embryo and which survives in the adult vertebral column as the intervertebral disks.
xref: NCIT:C2947
xref: SNOMEDCT_US:50007008
xref: UMLS:C0008487
is_a: HP:0010622 ! Neoplasm of the skeletal system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-06-25T09:00:39Z

[Term]
id: HP:0010763
name: Low insertion of columella
def: "Insertion of the posterior columella below the nasal base." [PMID:19152422]
comment: This feature is different from a convex Low hanging columella that has a normal insertion. It may be associated with a Short philtrum, but this should be assessed and coded separately. A low insertion is best appreciated when viewed from the side.
subset: hposlim_core
synonym: "Ala higher than columella" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Columella, low insertion" EXACT []
xref: UMLS:C4021229
xref: UMLS:C4280364
is_a: HP:0009929 ! Abnormal columella morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-04-24T12:12:25Z

[Term]
id: HP:0010764
name: Short eyelashes
def: "Decreased length of the eyelashes (subjective)." [https://orcid.org/0000-0002-0736-9199]
comment: Normal values are 7.99 - 1.05 mm in boys and 7.76 - 1.03 mm in girls.
synonym: "Decreased length of eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Short eyelashes" EXACT layperson []
xref: UMLS:C2748682
is_a: HP:0000499 ! Abnormal eyelash morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-04-24T03:31:00Z

[Term]
id: HP:0010765
name: Palmar hyperkeratosis
def: "Abnormal thickening of the skin localized to the palm of the hand." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023710
is_a: HP:0000962 ! Hyperkeratosis
is_a: HP:0040211 ! Abnormal skin morphology of the palm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-04-24T03:53:19Z

[Term]
id: HP:0010766
name: Ectopic calcification
def: "Deposition of calcium salts in a tissue or location in which calcification does not normally occur." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C3806226
is_a: HP:0000924 ! Abnormality of the skeletal system
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-27T09:52:59Z

[Term]
id: HP:0010767
name: Sacrococcygeal pilonidal abnormality
def: "The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023709
is_a: HP:0005107 ! Abnormal sacrum morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-29T09:45:21Z

[Term]
id: HP:0010769
name: Pilonidal sinus
alt_id: HP:0010768
def: "A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Pilonidal cyst" EXACT []
xref: SNOMEDCT_US:47639008
xref: UMLS:C0031925
is_a: HP:0010767 ! Sacrococcygeal pilonidal abnormality
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-29T09:55:15Z

[Term]
id: HP:0010770
name: Pilonidal fistula
xref: SNOMEDCT_US:47639008
xref: UMLS:C0031925
is_a: HP:0010767 ! Sacrococcygeal pilonidal abnormality
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-29T09:55:15Z

[Term]
id: HP:0010771
name: Pilonidal abscess
def: "A hair-containing cyst or sinus usually in the coccygeal region." [https://orcid.org/0000-0002-0736-9199]
synonym: "Sacrococcygeal fistula" EXACT []
xref: SNOMEDCT_US:85224001
xref: UMLS:C3537055
is_a: HP:0010767 ! Sacrococcygeal pilonidal abnormality
is_a: HP:0031292 ! Cutaneous abscess
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-29T09:55:15Z

[Term]
id: HP:0010772
name: Anomalous pulmonary venous return
def: "A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:111323005
xref: SNOMEDCT_US:39905002
xref: UMLS:C0036400
is_a: HP:0030968 ! Abnormal pulmonary vein morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-29T10:02:26Z

[Term]
id: HP:0010773
name: Partial anomalous pulmonary venous return
def: "A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung." [https://orcid.org/0000-0002-0736-9199]
synonym: "PAPVC" EXACT abbreviation []
synonym: "PAPVD" EXACT abbreviation []
synonym: "PAPVR" EXACT abbreviation []
synonym: "Partial anomalous pulmonary venous connection" EXACT []
synonym: "Partial anomalous pulmonary venous drainage" EXACT []
xref: Fyler:2030
xref: SNOMEDCT_US:68237008
xref: UMLS:C0158634
is_a: HP:0010772 ! Anomalous pulmonary venous return
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-29T10:03:02Z

[Term]
id: HP:0010774
name: Cor triatriatum
def: "The presence of an additional membrane in the left or right cardiac atrium which results in the subdivision of the affected atrium (and thus in total three atria, whence the name)." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
synonym: "Triatrial heart" EXACT []
xref: Fyler:3031
xref: ICD-10:Q24.2
xref: UMLS:C4023708
is_a: HP:0005120 ! Abnormal cardiac atrium morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-29T10:07:24Z

[Term]
id: HP:0010775
name: Vascular ring
def: "A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails." [https://orcid.org/0000-0002-0736-9199]
synonym: "Vascular ring of aorta" EXACT []
xref: Fyler:2760
xref: SNOMEDCT_US:110409004
xref: SNOMEDCT_US:66403007
xref: UMLS:C0221214
is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-29T10:18:47Z

[Term]
id: HP:0010776
name: Tracheobronchmegaly
def: "Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection." [https://orcid.org/0000-0002-0736-9199]
comment: Tracheobronchmegaly is typically characterized by atrophy or absence of elastic fibers and thinning of smooth muscle layers in the trachea and main bronchi.
xref: UMLS:C4023707
is_a: HP:0010777 ! Bronchomegaly
is_a: HP:0010778 ! Tracheomegaly
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-29T10:22:55Z

[Term]
id: HP:0010777
name: Bronchomegaly
def: "Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023706
is_a: HP:0025426 ! Abnormal bronchus morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-29T10:25:22Z

[Term]
id: HP:0010778
name: Tracheomegaly
def: "Marked widening of the trachea." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023705
is_a: HP:0002778 ! Abnormal tracheal morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-29T10:28:51Z

[Term]
id: HP:0010779
name: Large pelvis bone
def: "The presence of an abnormally large pelvis." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Large pelvis" BROAD layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Large pelvis bone" EXACT layperson []
xref: UMLS:C4019074
xref: UMLS:C4072882
is_a: HP:0040163 ! Abnormal pelvis bone morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-29T11:03:39Z

[Term]
id: HP:0010780
name: Hyperacusis
def: "Over-sensitivity to certain frequency ranges of sound." [PMID:14645606, PMID:14647932, PMID:31669363]
comment: Hyperacusis refers to a general hypersensitivity to sound of any frequency, and phonophobia to an anxious sensitivity towards specific sound largely independent of its volume. Hyperacusis and phonophobia represent disturbances of central auditory processing without peripheral pathology, often combined with psychosomatic reactions. Listeners with hearing loss often struggle to detect low-level sounds, but as the sound intensity rises above threshold, loudness initially grows at a faster than normal rate, but the growth rate slows with increasing intensity so that normal loudness is achieved at high intensities. This phenomenon is referred to as loudness recruitment. However, in some hearing-impaired listeners,loudness continues to grow more rapidly than normal at suprathreshold intensities causing moderately intense sounds to be perceived as louder than normal, a debilitating condition known as hyperacusis or loudness intolerance.
subset: hposlim_core
xref: SNOMEDCT_US:194399009
xref: SNOMEDCT_US:25289003
xref: UMLS:C0034880
is_a: HP:5200060 ! Auditory hypersensitivity
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-0736-9199
property_value: terms:contributor https://orcid.org/0000-0002-4142-7153
property_value: terms:contributor https://orcid.org/0000-0002-4422-1708
property_value: terms:contributor https://orcid.org/0000-0003-3777-1389
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-04-29T04:42:44Z

[Term]
id: HP:0010781
name: Skin dimple
def: "Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation." [https://orcid.org/0000-0002-0736-9199]
synonym: "Skin dimples" EXACT plural_form []
xref: SNOMEDCT_US:301854006
xref: UMLS:C0578531
is_a: HP:0011355 ! Localized skin lesion
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-04-30T11:34:41Z

[Term]
id: HP:0010782
name: Shoulder dimple
def: "A subtype of skin dimples occurring in the shoulder region." [https://orcid.org/0000-0002-0736-9199, PMID:22679172]
comment: Symmetrical dimples of the skin overlying the acromial process of the scapulae are called bi-acromial dimples.
synonym: "Acromial dimple" EXACT []
synonym: "Bi-acromial dimples" EXACT plural_form []
synonym: "Shoulder dimples" EXACT plural_form []
xref: UMLS:C4023704
is_a: HP:0010781 ! Skin dimple
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-04-30T11:36:51Z

[Term]
id: HP:0010783
name: Erythema
def: "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-6548-5200]
subset: hposlim_core
synonym: "Redness of skin or mucous membrane" EXACT layperson []
xref: SNOMEDCT_US:20255002
xref: SNOMEDCT_US:238810007
xref: SNOMEDCT_US:247441003
xref: SNOMEDCT_US:271811009
xref: SNOMEDCT_US:444827008
xref: SNOMEDCT_US:70819003
xref: SNOMEDCT_US:86735004
xref: UMLS:C0016382
xref: UMLS:C0041834
is_a: HP:0011276 ! Vascular skin abnormality
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-04-30T11:40:43Z

[Term]
id: HP:0010784
name: Uterine neoplasm
def: "A tumor (abnormal growth of tissue) of the uterus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Uterine cancer" BROAD layperson []
synonym: "Uterine neoplasia" RELATED []
synonym: "Uterine tumor" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Uterine tumour" EXACT uk_spelling []
xref: NCIT:C3262
xref: SNOMEDCT_US:126908007
xref: UMLS:C0042138
is_a: HP:0031105 ! Abnormal uterus morphology
is_a: HP:0033020 ! Female reproductive system neoplasm
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-05-04T09:35:15Z

[Term]
id: HP:0010785
name: Gonadal neoplasm
def: "A tumor (abnormal growth of tissue) of a gonad." [https://orcid.org/0000-0002-0736-9199]
synonym: "Gonadal neoplasia" EXACT []
xref: NCIT:C3262
xref: UMLS:C4021228
is_a: HP:0010787 ! Genital neoplasm
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-05-04T09:44:41Z

[Term]
id: HP:0010786
name: Urinary tract neoplasm
def: "The presence of a neoplasm of the urinary system." [https://orcid.org/0000-0002-0736-9199]
synonym: "Urinary tract neoplasia" RELATED []
xref: NCIT:C3262
xref: SNOMEDCT_US:126879004
xref: SNOMEDCT_US:254913005
xref: UMLS:C0042076
is_a: HP:0007379 ! Neoplasm of the genitourinary tract
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-05-04T09:45:25Z

[Term]
id: HP:0010787
name: Genital neoplasm
def: "A tumor (abnormal growth of tissue) of the genital system." [https://orcid.org/0000-0002-0736-9199]
synonym: "Genital neoplasia" RELATED []
synonym: "Genital tumor" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Genital tumour" EXACT uk_spelling []
xref: NCIT:C3262
xref: UMLS:C0679347
xref: UMLS:C4020767
is_a: HP:0000078 ! Abnormality of the genital system
is_a: HP:0007379 ! Neoplasm of the genitourinary tract
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-05-04T09:47:50Z

[Term]
id: HP:0010788
name: Testicular neoplasm
def: "The presence of a neoplasm of the testis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Testicular cancer" BROAD layperson []
synonym: "Testicular neoplasia" RELATED []
synonym: "Testicular tumor" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Testicular tumour" EXACT uk_spelling []
xref: NCIT:C3262
xref: SNOMEDCT_US:126900000
xref: UMLS:C0039590
is_a: HP:0000035 ! Abnormal testis morphology
is_a: HP:0010785 ! Gonadal neoplasm
is_a: HP:0100848 ! Neoplasm of the male external genitalia
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-05-04T09:48:35Z

[Term]
id: HP:0010789
name: Abnormality of the Leydig cells
xref: UMLS:C4023703
is_a: HP:0000035 ! Abnormal testis morphology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-05-04T09:50:45Z

[Term]
id: HP:0010790
name: Hypoplasia of the Leydig cells
def: "Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023702
is_a: HP:0010789 ! Abnormality of the Leydig cells
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-05-04T09:51:03Z

[Term]
id: HP:0010791
name: Hyperplasia of the Leydig cells
def: "Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:76085008
xref: UMLS:C0023600
is_a: HP:0010789 ! Abnormality of the Leydig cells
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-05-04T09:51:26Z

[Term]
id: HP:0010793
name: Bifid nail
def: "A digit with two nails, with at least some soft tissue between them." [PMID:19125433]
subset: hposlim_core
synonym: "duplicated nail" EXACT []
synonym: "Notched nail" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:110992006
xref: UMLS:C0544857
is_a: HP:0002164 ! Nail dysplasia
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-05-04T10:34:02Z

[Term]
id: HP:0010794
name: Impaired visuospatial constructive cognition
def: "Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities)." [https://orcid.org/0009-0006-4530-3154, PMID:10521286]
comment: The ability to see an object or picture as a set of parts and then to construct a replica of the original from these parts is known as visuospatial constructive cognition. Impaired visuospatial constructive cognition is one of the characteristic featrues of most patients with Williams-Beuren Syndrome.
xref: UMLS:C4023701
is_a: HP:0001328 ! Specific learning disability
property_value: dc:creator "sandra1" xsd:string
creation_date: 2010-05-10T01:43:01Z

[Term]
id: HP:0010795
name: Cerebellar glioma
def: "A glioma affecting the cerebellum." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023700
is_a: HP:0009733 ! Glioma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-06-25T09:08:32Z

[Term]
id: HP:0010796
name: Brainstem glioma
def: "A glioma affecting the brainstem." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:444545003
xref: UMLS:C0677865
is_a: HP:0009733 ! Glioma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-06-25T09:10:45Z

[Term]
id: HP:0010797
name: Hemangioblastoma
def: "A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter." [https://orcid.org/0000-0002-0736-9199]
synonym: "Haemangioblastoma" EXACT []
xref: NCIT:C3801
xref: SNOMEDCT_US:81201000
xref: UMLS:C0206734
is_a: HP:0100835 ! Benign neoplasm of the central nervous system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-06-25T09:18:32Z

[Term]
id: HP:0010798
name: Lip freckle
def: "Increased focal pigmentation of the vermilion of the lips." [PMID:19125428]
comment: Lip freckles may be accompanied by Perioral hyperpigmentation, but this should be assessed separately. Lentigo is commonly used as a synonym for freckle in reference to the vermilion, but these are distinct terms when referring to the skin.
subset: hposlim_core
synonym: "Ephelis of lip" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Labial lentigo" EXACT []
synonym: "Lip freckle" EXACT layperson []
synonym: "Lip lentigo" EXACT []
xref: SNOMEDCT_US:239136007
xref: UMLS:C0406814
is_a: HP:0000159 ! Abnormal lip morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-06-26T01:59:19Z

[Term]
id: HP:0010799
name: Pinealoma
def: "A neoplasm of the pineal gland." [https://orcid.org/0000-0002-0736-9199]
comment: Pineal tumors are a rare and heterogeneous group of primary central nervous system neoplasms, including pineal parenchymal tumors (pineocytomas, pineal parenchymal tumors of intermediate differentiation, and pineoblastomas), germ cell tumors, and neuroepithelial tumors, such as astrocytomas, ependymomas, and papillary tumor of the pineal region.
xref: NCIT:C3328
xref: SNOMEDCT_US:127026004
xref: SNOMEDCT_US:359619007
xref: SNOMEDCT_US:47598005
xref: UMLS:C0031941
is_a: HP:0030063 ! Neuroepithelial neoplasm
is_a: HP:0030693 ! Supratentorial neoplasm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-06-25T09:27:58Z

[Term]
id: HP:0010800
name: Absent cupid's bow
def: "Lack of paramedian peaks and median notch of the upper lip vermilion." [PMID:19125428]
comment: This bow is often absent in a Thin vermilion of the upper lip, but that should be assessed separately. This finding is commonly associated with Smooth philtrum, but that should be coded separately.
subset: hposlim_core
synonym: "Absent cupid's bow" EXACT layperson []
synonym: "Agenesis of cupid's bow" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Aplasia of cupid's bow" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of cupid's bow" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Lack of cupid's bow" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing cupid's bow" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C2053435
is_a: HP:0011339 ! Abnormality of upper lip vermillion
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-06-26T02:01:31Z

[Term]
id: HP:0010801
name: Underdeveloped nasolabial fold
def: "Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure)." [PMID:19125428]
subset: hposlim_core
synonym: "Flat nasolabial fold" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Nasolabial crease, hypoplastic" EXACT []
synonym: "Nasolabial crease, underdeveloped" EXACT []
synonym: "Nasolabial fold, hypoplastic" EXACT []
synonym: "Shallow nasolabial fold" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4021227
is_a: HP:0005289 ! Abnormal nasolabial region morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-06-26T02:10:51Z

[Term]
id: HP:0010802
name: Perioral hyperpigmentation
def: "Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips." [PMID:19125428]
comment: Periorbital hyperpigmentation may be accompanied by Lip freckles, but this should be assessed separately.
synonym: "Darkening of skin around the mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased pigmentation around the mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023699
is_a: HP:0001000 ! Abnormality of skin pigmentation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-06-26T02:22:18Z

[Term]
id: HP:0010803
name: Everted upper lip vermilion
def: "Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip." [https://orcid.org/0000-0002-0736-9199, PMID:19125428]
comment: In frontal view, with the face relaxed, the apparent height of the upper lip vermilion is excessive and the upper incisors may be visible. On profile view, the vermilion is more convex than usual. An everted upper lip may be associated with a short philtrum, and may be secondary to protruded upper teeth, but these should be assessed and described separately.
subset: hposlim_core
synonym: "Drooping upper lip" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Eclabium of upper lip" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Everted prominent upper lip" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Everted upper lip" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Outward turned upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Protruding upper lip" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C3275452
xref: UMLS:C4023698
xref: UMLS:C4280363
is_a: HP:0011339 ! Abnormality of upper lip vermillion
is_a: HP:0012472 ! Eclabion
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-06-26T02:30:13Z

[Term]
id: HP:0010804
name: Tented upper lip vermilion
alt_id: HP:0100895
def: "Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base." [PMID:19125428]
comment: This finding is distinguished from an Exaggerated Cupid's bow by the alteration of the shape of the oral aperture.
subset: hposlim_core
synonym: "Inverted V-shaped upper lip" EXACT []
synonym: "Tented mouth" RELATED layperson []
synonym: "Tented upper lip" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1839767
xref: UMLS:C1850072
xref: UMLS:C1853383
is_a: HP:0011339 ! Abnormality of upper lip vermillion
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-06-26T02:32:35Z

[Term]
id: HP:0010805
name: Upturned corners of mouth
def: "Oral commissures positioned superior to the midline labial fissure." [PMID:19125428]
comment: This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the upper lip is enlarged.
subset: hposlim_core
synonym: "Upturned corners of mouth" EXACT layperson []
synonym: "Upturned mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Upturned oral commisures" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C3553471
is_a: HP:0011338 ! Abnormality of mouth shape
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-06-26T03:17:08Z

[Term]
id: HP:0010806
name: U-Shaped upper lip vermilion
alt_id: HP:0000186
def: "Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures." [PMID:19125428]
comment: The U-shaped upper vermilion is a more rounded version of the Tented upper lip vermilion. In U-shaped upper vermilion there is loss of the central groove of the Cupid's bow. Replaces: Carpmouth; Fish mouth (pejorative terms).
synonym: "Carp-like mouth" EXACT layperson []
synonym: "Carp-shaped mouth" EXACT layperson []
synonym: "Fish mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Large, carp-shaped mouth" EXACT layperson []
synonym: "Wide, carp-shaped mouth" EXACT layperson []
xref: UMLS:C1856202
is_a: HP:0011339 ! Abnormality of upper lip vermillion
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-06-26T03:25:01Z

[Term]
id: HP:0010807
name: Open bite
def: "Visible space between the dental arches in occlusion." [PMID:19125428]
comment: An open bite produces an absence of vertical overlap of the two dental arches. It may be associated with malocclusion, but this should be coded separately. Open bite can be accompanied by malocclusion, which is a complex bundled term. The Angle classification of malocclusion (Classes I-III) is widely used in the orthodontics community [Moyers, [1973]] for the characterization of malocclusion.
subset: hposlim_core
synonym: "Absence of overlap of upper and lower teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Open bite" EXACT layperson []
synonym: "Open bite between upper and lower teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:35580009
xref: UMLS:C0266061
is_a: HP:0000692 ! Tooth malposition
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-02T09:30:43Z

[Term]
id: HP:0010808
name: Protruding tongue
def: "Tongue extending beyond the alveolar ridges or teeth at rest." [PMID:19125428]
comment: Protruding tongue may or may not be associated with a Large tongue, and that finding should be assessed and coded separately.
subset: hposlim_core
synonym: "Lingual prolapse" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Lingual prominence" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Lingual protrusion" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Prolapse of tongue" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Prominent tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Protruding tongue" EXACT layperson []
synonym: "Tongue protrusion" EXACT []
synonym: "Tongue sticking out of mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:249872000
xref: SNOMEDCT_US:285503005
xref: UMLS:C0241442
is_a: HP:0030809 ! Abnormal tongue morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-02T09:38:37Z

[Term]
id: HP:0010809
name: Broad uvula
def: "Increased width of the uvula (subjective finding)." [PMID:19125428]
comment: This finding often accompanies a Submucous cleft palate, but this should be coded separately. A longitudinal groove indicating incomplete fusion of the two parts of the uvula may be present with a broadened uvula and has sometimes been called abortive cleft uvula.
subset: hposlim_core
synonym: "Wide uvula" EXACT []
xref: UMLS:C3693299
is_a: HP:0000172 ! Abnormal uvula morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-05T10:22:01Z

[Term]
id: HP:0010810
name: Long uvula
def: "Increased length of the uvula." [PMID:19125428]
comment: In clinical practice, the size of the uvula cannot be easily measured and is not static, since it depends on the position of the soft palate, the base of the tongue, and the head. Therefore, judgment of change in length of the uvula depends heavily on the experience of the observer.
subset: hposlim_core
synonym: "Elongated uvula" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Hyperplasia of uvula" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Long palatine uvula" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023697
xref: UMLS:C4280362
is_a: HP:0000172 ! Abnormal uvula morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-05T10:23:52Z

[Term]
id: HP:0010811
name: Narrow uvula
def: "Decreased width of the uvula." [PMID:19125428]
subset: hposlim_core
synonym: "Narrow palatine uvula" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Thin uvula" RELATED [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023696
is_a: HP:0000172 ! Abnormal uvula morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-05T10:25:14Z

[Term]
id: HP:0010812
name: Short uvula
def: "Decreased length of the uvula." [PMID:19125428]
comment: Objective measurement of the length of the uvula can be determined on a lateral cephalograms. However, in this series we are not relying on radiographs for assessment of findings. In clinical practice, the size of the uvula cannot be easily measured and is not static, since it depends on the position of the soft palate, the base of the tongue, and the head. Therefore, judgment of change in length of the uvula depends heavily on the experience of the observer.
synonym: "Blunt uvula" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypoplastic uvula" EXACT []
synonym: "Short palatine uvula" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1401781
is_a: HP:0010293 ! Aplasia/Hypoplasia of the uvula
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-05T10:26:47Z

[Term]
id: HP:0010813
name: Abnormal number of hair whorls
def: "More than two clockwise hair whorls." [PMID:19125436]
comment: Most individuals have one clockwise hair whorl at a single point on the scalp lateral to the midline but close to the vertex of the skull. Five percent of the population has two whorls. A double hair whorl is sometimes referred to as a double crown. In 10%, whorl direction is counter-clockwise.
subset: hposlim_core
synonym: "Abnormal number of hair swirls" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormal number of hair whorls" EXACT layperson []
synonym: "Double crown (hair whorls)" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Extra hair swirls" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Extra hair whorl" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Supernumary hair swirls" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Supernumary hair whorl" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023695
is_a: HP:0010721 ! Abnormal hair whorl
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-05T11:12:26Z

[Term]
id: HP:0010814
name: Abnormal position of hair whorl
def: "Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull." [PMID:19125436]
comment: Placement of hair whorl should be described as parietal, vertex, eccentric, etc. In addition, the number of hair whorls should be noted. Five percent of the population has two whorls.
subset: hposlim_core
synonym: "Abnormal location of hair swirl" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormal position of hair whorl" EXACT layperson []
xref: UMLS:C4023694
is_a: HP:0010721 ! Abnormal hair whorl
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-05T11:13:42Z

[Term]
id: HP:0010815
name: Nevus sebaceous
def: "A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly." [https://orcid.org/0000-0002-0736-9199]
synonym: "Naevus sebaceous" EXACT []
synonym: "Organoid nevus" EXACT []
synonym: "Sebaceous mole" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Sebaceous naevus" EXACT []
synonym: "Sebaceous nevus" EXACT []
xref: SNOMEDCT_US:239112008
xref: SNOMEDCT_US:52298009
xref: SNOMEDCT_US:707136009
xref: UMLS:C3854181
is_a: HP:0010816 ! Epidermal nevus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T12:07:03Z

[Term]
id: HP:0010816
name: Epidermal nevus
def: "Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood." [https://orcid.org/0000-0002-0736-9199, PMID:20542174]
comment: Epidermal nevus arises from a defect in the ectoderm and in general are due to an overgrowth of keratinocytes. Subclasses of epidermal nevus include Linear epidermal naevus, epidermolytic epidermal naevus, acantholytic epidermal naevus, linear porokeratosis, and systematized epidermal naevus. Several other conditions are also characterized by benign overgrowth of the epidermis and its appendages (organoid naevi), including inflammatory linear verrucous epidermal naevus, sebaceous naevus, sweat gland naevi, comedone naevus, and Becker naevus.
synonym: "Epidermal nevi" RELATED []
xref: SNOMEDCT_US:239107007
xref: SNOMEDCT_US:25201003
xref: UMLS:C0334082
is_a: HP:0003764 ! Nevus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T12:12:32Z

[Term]
id: HP:0010817
name: Linear nevus sebaceous
def: "A type of nevus sebaceous with a linear form, raised borders and yellowish color." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:239112008
xref: SNOMEDCT_US:52298009
xref: SNOMEDCT_US:707136009
xref: UMLS:C3854181
is_a: HP:0010815 ! Nevus sebaceous
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T12:17:17Z

[Term]
id: HP:0010818
name: Generalized tonic seizure
alt_id: HP:0002184
def: "A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities." [HPO_CONTRIBUTOR:jalbers, https://orcid.org/0000-0002-0736-9199, PMID:11580774, PMID:28276060, PMID:28276064]
comment: Characterized by a sudden increase in muscle tone whereby the body, arms, or legs make sudden stiffening movements and consciousness is usually preserved. Tonic seizures can occur during sleep. Tonic seizures usually affect both sides of the body, and cause a fall if the affected person was standing when the seizure started.
synonym: "Generalised hypertonic seizure" EXACT []
synonym: "Generalised tonic seizure" EXACT uk_spelling []
synonym: "Generalised tonic seizures" EXACT uk_spelling []
synonym: "Generalized hypertonic seizure" EXACT []
synonym: "Generalized tonic seizures" EXACT plural_form []
synonym: "Hypertonic seizures" RELATED []
xref: UMLS:C1836508
is_a: HP:0032677 ! Generalized-onset motor seizure
is_a: HP:0032792 ! Tonic seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T03:03:51Z

[Term]
id: HP:0010819
name: Atonic seizure
alt_id: HP:0002124
def: "Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature." [HPO_CONTRIBUTOR:jalbers, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-1735-8178, PMID:11580774]
comment: This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding atonic seizures when the onset is not known.
synonym: "Astatic seizure" EXACT []
synonym: "Astatic seizures" EXACT plural_form []
synonym: "Atonic seizures" EXACT plural_form []
synonym: "Drop attacks" EXACT []
synonym: "Drop seizures" EXACT plural_form []
synonym: "Hypotonic seizure" EXACT []
synonym: "Hypotonic seizures" RELATED plural_form []
synonym: "Sudden loss of muscle tone" RELATED layperson []
xref: SNOMEDCT_US:189198006
xref: SNOMEDCT_US:42365007
xref: UMLS:C0270846
xref: UMLS:C1836509
is_a: HP:0020219 ! Motor seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T03:13:06Z

[Term]
id: HP:0010820
name: Focal emotional seizure with crying
def: "Focal emotional seizure with crying (dacrystic) is characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present." [https://orcid.org/0000-0002-0736-9199, PMID:28276060, PMID:993803]
comment: Crying is a rare feature of an epileptic seizure, and is more commonly a feature of a non-epileptic seizure. The word dacrystic is derived from the Greek word dakryon (tear).
synonym: "Dacrystic seizure" EXACT []
synonym: "Dacrystic seizures" EXACT plural_form []
xref: UMLS:C4023693
is_a: HP:0025613 ! Focal emotional seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T03:23:32Z

[Term]
id: HP:0010821
name: Focal emotional seizure with laughing
def: "Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless'." [https://orcid.org/0000-0002-0736-9199, PMID:28276060, PMID:28276064]
comment: This seizure type is characteristic of seizures arising in the hypothalamus (see hypothalamic hamartoma), but can occur in seizures arising in the frontal or temporal lobes.
synonym: "Gelastic seizure" EXACT []
synonym: "Gelastic seizures" EXACT plural_form []
xref: SNOMEDCT_US:89525009
xref: UMLS:C0270820
is_a: HP:0025613 ! Focal emotional seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T03:27:12Z

[Term]
id: HP:0010822
name: Scintillating scotoma
def: "A scintillating scotoma is a common visual aura that can precede a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:2228002
xref: UMLS:C0235068
is_a: HP:0000575 ! Scotoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T03:35:29Z

[Term]
id: HP:0010823
name: Ridged cranial sutures
def: "An overlap of the bony plates of the skull in an infant, with or without early closure." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Cranial suture ridges" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023692
is_a: HP:0011329 ! Abnormality of cranial sutures
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T03:46:25Z

[Term]
id: HP:0010824
name: Abnormal fifth cranial nerve morphology
def: "Any structural abnormality of the fifth cranial nerve." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal trigeminal nerve morphology" EXACT []
synonym: "Abnormality of the fifth cranial nerve" EXACT []
synonym: "Abnormality of the nervus trigeminus" EXACT []
xref: UMLS:C4021226
is_a: HP:0001291 ! Abnormal cranial nerve morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T03:51:21Z

[Term]
id: HP:0010825
name: Abnormality of the eleventh cranial nerve
def: "Abnormality of the eleventh cranial nerve." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of cranial nerve XI" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the accessory nerve" EXACT []
xref: UMLS:C4021225
is_a: HP:0001291 ! Abnormal cranial nerve morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T03:54:53Z

[Term]
id: HP:0010826
name: Abnormality of the twelfth cranial nerve
def: "Abnormality of the twelfth cranial nerve." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of cranial nerve 12" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of cranial nerve xii" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the hypoglossal nerve" EXACT []
xref: UMLS:C4021224
is_a: HP:3000075 ! Abnormal lingual nerve morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T03:58:00Z

[Term]
id: HP:0010827
name: Abnormal seventh cranial physiology
def: "Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the facial nerve" EXACT []
xref: UMLS:C4021223
is_a: HP:0031910 ! Abnormal cranial nerve physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T04:04:55Z

[Term]
id: HP:0010828
name: Hemifacial spasm
def: "Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions." [https://orcid.org/0000-0002-0736-9199, PMID:12145388]
comment: Hemifacial spasm presents in the fifth or sixth decade of life, and is almost always unilateral. An attack usually begins with brief clonic movements of the orbicularis oculi and spreads over years to other facial muscles. Hemifacial spasm is often the result of chronic irritation of the facial nerve or nucleus.
synonym: "Hemifacial spasms" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Spasms on one side of the face" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:13753008
xref: UMLS:C0278152
is_a: HP:0003739 ! Myoclonic spasms
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T04:15:33Z

[Term]
id: HP:0010829
name: Impaired temperature sensation
alt_id: HP:0006901
alt_id: HP:0100772
def: "A reduced ability to discriminate between different temperatures." [https://orcid.org/0000-0002-0736-9199]
comment: Temperature sensation can be tested by touching the skin several seconds with a water flask filled to the desired temperature. Persons with normal temperature sensation should at least be able to identify as warm a flask that is 35-36 degrees C and identify as cool a flask at 28-32 degrees C.
synonym: "Abnormality of temperature sensation" EXACT layperson []
synonym: "Impaired temperature sensation" EXACT layperson []
synonym: "Impaired thermal sensitivity" EXACT []
synonym: "Loss of temperature sensation" EXACT layperson []
xref: UMLS:C4021222
is_a: HP:0033747 ! Abnormal exteroceptive sensation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T07:08:10Z

[Term]
id: HP:0010830
name: Impaired tactile sensation
def: "A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal thigmesthesia" EXACT []
synonym: "Impaired touch sensation" EXACT layperson []
synonym: "Loss of tactile sensation" EXACT []
xref: UMLS:C4021221
is_a: HP:0033747 ! Abnormal exteroceptive sensation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T07:09:54Z

[Term]
id: HP:0010831
name: Impaired proprioception
alt_id: HP:0010870
def: "A loss or impairment of the sensation of the relative position of parts of the body and joint position." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of proprioception" EXACT []
xref: UMLS:C1856691
is_a: HP:0003474 ! Somatic sensory dysfunction
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T07:12:53Z

[Term]
id: HP:0010832
name: Abnormality of pain sensation
def: "Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023691
is_a: HP:0033747 ! Abnormal exteroceptive sensation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T07:15:58Z

[Term]
id: HP:0010833
name: Spontaneous pain sensation
def: "Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023690
is_a: HP:0010832 ! Abnormality of pain sensation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T07:19:19Z

[Term]
id: HP:0010834
name: Trophic changes related to pain
def: "Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails." [https://orcid.org/0000-0002-0736-9199]
synonym: "Trophic changes" EXACT []
xref: UMLS:C4021220
is_a: HP:0010832 ! Abnormality of pain sensation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T07:23:26Z

[Term]
id: HP:0010835
name: Dissociated sensory loss
def: "A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa." [https://orcid.org/0000-0002-0736-9199]
comment: Dissociated sensory loss indicates a focal lesion within the spinal cord or brainstem.
xref: SNOMEDCT_US:87275002
xref: UMLS:C0278136
is_a: HP:0003474 ! Somatic sensory dysfunction
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T07:28:04Z

[Term]
id: HP:0010836
name: Abnormal circulating copper concentration
def: "An abnormal concentration of copper." [https://orcid.org/0000-0002-0736-9199]
comment: An abnormality in the concentration of copper, which normally occurs as a cofactor for a number of proteins including amine oxidases and chaperone proteins.
synonym: "Abnormal copper levels" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4020766
xref: UMLS:C4023689
is_a: HP:0011030 ! Abnormal blood transition element cation concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T07:39:09Z

[Term]
id: HP:0010837
name: Decreased circulating ceruloplasmin concentration
def: "Decreased concentration of ceruloplasmin in the blood." [https://orcid.org/0000-0002-0736-9199, PMID:32119309]
comment: Ceruloplasmin is the major copper-carrying protein in the serum. Decreased serum ceruloplasmin levels can indicate other defects in copper metabolism.
synonym: "Decreased serum ceruloplasmin" EXACT layperson []
synonym: "Decreased serum ceruloplasminA" EXACT []
synonym: "Hypoceruloplasminaemia" EXACT uk_spelling []
synonym: "Hypoceruloplasminemia" EXACT []
xref: UMLS:C0240997
is_a: HP:0033144 ! Abnormal circulating ceruloplasmin concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T07:39:36Z

[Term]
id: HP:0010838
name: High nonceruloplasmin-bound serum copper
def: "An increased concentration of non ceruloplasmin bound copper in the blood." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1848459
is_a: HP:0010836 ! Abnormal circulating copper concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T07:43:39Z

[Term]
id: HP:0010839
name: Increased urinary copper concentration
def: "An increased concentration of copper in the urine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased urinary copper concentration" EXACT layperson []
xref: UMLS:C4023688
is_a: HP:0045036 ! Abnormal urinary copper concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T07:44:50Z

[Term]
id: HP:0010841
name: Multifocal epileptiform discharges
def: "An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Multifocal EEG abnormality" EXACT []
xref: UMLS:C4021219
is_a: HP:0011185 ! EEG with focal epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T08:01:28Z

[Term]
id: HP:0010843
name: EEG with focal slow activity
def: "Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy)." [https://orcid.org/0000-0002-0736-9199]
synonym: "EEG: focal slow activity" EXACT []
synonym: "EEG: localised slow activity" EXACT uk_spelling []
synonym: "EEG: localized slow activity" EXACT []
xref: UMLS:C4021218
is_a: HP:0011203 ! EEG with abnormally slow frequencies
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T08:10:59Z

[Term]
id: HP:0010844
name: EEG with multifocal slow activity
def: "Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023687
is_a: HP:0011203 ! EEG with abnormally slow frequencies
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T08:13:54Z

[Term]
id: HP:0010845
name: EEG with generalized slow activity
def: "Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [https://orcid.org/0000-0002-0736-9199]
comment: Generalized slow activity in the EEG typically signifies serious dysfunction of the entire brain.
synonym: "EEG with generalised slow activity" EXACT uk_spelling []
synonym: "EEG: generalised slow activity" EXACT uk_spelling []
synonym: "EEG: generalized slow activity" EXACT []
xref: UMLS:C4021217
is_a: HP:0011203 ! EEG with abnormally slow frequencies
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T08:15:05Z

[Term]
id: HP:0010846
name: EEG with persistent abnormal rhythmic activity
synonym: "EEG: persistent abnormal rhythmic activity" EXACT []
xref: UMLS:C4021216
is_a: HP:0011176 ! EEG with constitutional variants
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T08:18:01Z

[Term]
id: HP:0010847
name: EEG with spike-wave complexes (<2.5 Hz)
def: "The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG)." [https://orcid.org/0000-0002-0736-9199]
comment: Spikes (<70 ms) and sharp waves (70-200 ms) are sharp transient waves that have a strong association with epilepsy. No difference is noted in terms of clinical significance of spikes and sharp waves. Significant spikes usually are followed by a slow wave.
synonym: "Electroencephalogram demonstrated spike-slow wave discharges" EXACT []
xref: UMLS:C4023686
is_a: HP:0010850 ! EEG with spike-wave complexes
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T08:18:25Z

[Term]
id: HP:0010848
name: EEG with spike-wave complexes (2.5-3.5 Hz)
def: "The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG)." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023685
is_a: HP:0010850 ! EEG with spike-wave complexes
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T08:21:13Z

[Term]
id: HP:0010849
name: EEG with spike-wave complexes (>3.5 Hz)
alt_id: HP:0007261
def: "The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG)." [https://orcid.org/0000-0002-0736-9199]
synonym: "EEG with 3-4-Hz spike waves" RELATED []
xref: UMLS:C4020765
xref: UMLS:C4023684
is_a: HP:0010850 ! EEG with spike-wave complexes
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T08:22:40Z

[Term]
id: HP:0010850
name: EEG with spike-wave complexes
def: "Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023683
is_a: HP:0011198 ! EEG with generalized epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-10T08:23:28Z

[Term]
id: HP:0010851
name: EEG with burst suppression
def: "The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes." [https://orcid.org/0000-0002-0736-9199, PMID:22323592]
comment: Burst suppression can occur in a generalized or lateralized distribution and is often a sign of severe encephalopathy. Generally, an interburst interval of 30 seconds or less is associated with a better prognosis than longer interburst intervals (>30 sec). Burst suppression is an electroencephalogram (EEG) pattern in which high voltage activity (burst) and flatline (suppression) periods alternate systematically but quasiperiodically (almost periodic but with variations in inter- and intra-burst duration) is a state of profound brain inactivation.
xref: UMLS:C1969156
is_a: HP:0011198 ! EEG with generalized epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-11T08:02:41Z

[Term]
id: HP:0010852
name: EEG with photoparoxysmal response
alt_id: HP:0001330
def: "EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns." [https://orcid.org/0000-0002-0736-9199]
comment: In some patients, seizures can be provoked by specific external factors (reflex epilepsy), including flickering lights and patterns. These patients commonly show epileptiform discharges in the EEG when stimulated with flashing lights, black and white striped patterns and television. These evoked EEG abnormalities are called photoparoxysmal responses.
synonym: "Photoparoxysmal response on EEG" EXACT []
xref: UMLS:C3552821
is_a: HP:0002353 ! EEG abnormality
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-11T08:10:17Z

[Term]
id: HP:0010853
name: EEG with periodic lateralized epileptiform discharges
def: "Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds)." [https://orcid.org/0000-0002-0736-9199]
comment: The epileptiform morphology of the discharges is not invariable, as PLEDS are often closer to slow waves than to sharp waves in morphology. PLEDs are often are caused by acute destructive focal lesions. PLEDs are often a transitory phenomenon, disappearing in a matter of weeks, even if the causal lesion persists, and often transforming into a less specific but more persistent focal slow appearance.
synonym: "EEG: periodic lateralized epileptiform discharges" EXACT []
xref: UMLS:C4021215
is_a: HP:0011186 ! Focal epileptiform discharges with limited propagation to contralateral hemisphere
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-11T08:25:02Z

[Term]
id: HP:0010854
name: EEG with generalized low amplitude activity
def: "An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [https://orcid.org/0000-0002-0736-9199]
synonym: "EEG with generalised low amplitude activity" EXACT uk_spelling []
synonym: "EEG: generalised low amplitude activity" EXACT uk_spelling []
synonym: "EEG: generalized low amplitude activity" EXACT []
xref: UMLS:C4021214
is_a: HP:0011201 ! EEG with changes in voltage
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-11T08:34:13Z

[Term]
id: HP:0010855
name: EEG with localized low amplitude activity
def: "An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [https://orcid.org/0000-0002-0736-9199]
synonym: "EEG with localised low amplitude activity" EXACT uk_spelling []
synonym: "EEG: localised low amplitude activity" EXACT uk_spelling []
synonym: "EEG: localized low amplitude activity" EXACT []
xref: UMLS:C4021213
is_a: HP:0011201 ! EEG with changes in voltage
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-11T08:36:03Z

[Term]
id: HP:0010856
name: EEG with periodic complexes
def: "Periodically occurring generalized periodic complexes." [HPO_CONTRIBUTOR:jalbers]
synonym: "EEG: periodic complexes" EXACT []
synonym: "Radermecker complexes" EXACT []
xref: UMLS:C4021212
is_a: HP:0010857 ! EEG with periodic abnormalities
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-11T08:38:52Z

[Term]
id: HP:0010857
name: EEG with periodic abnormalities
def: "Periodically recurring abnormalities in the EEG." [https://orcid.org/0000-0002-0736-9199]
synonym: "EEG: periodic abnormalities" EXACT []
xref: UMLS:C4021211
is_a: HP:0011200 ! EEG with generalized polymorphic epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-11T08:39:39Z

[Term]
id: HP:0010858
name: EEG with hyperventilation-induced epileptiform discharges
def: "Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [https://orcid.org/0000-0002-0736-9199]
comment: Hyperventilation (overbreathing) is widely used as a diagnostic procedure to activate epileptiform EEG discharges.
xref: UMLS:C4023682
is_a: HP:0011182 ! Interictal epileptiform activity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-07-11T08:44:38Z

[Term]
id: HP:0010859
name: Frank breech presentation
def: "A kind of breech presentation in which the hips are flexed and the knees are extended." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:18559007
xref: UMLS:C0233286
is_a: HP:0001623 ! Breech presentation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-08-03T12:33:15Z

[Term]
id: HP:0010860
name: Complete breech presentation
def: "A kind of breech presentation in which the hips are flexed and the knees are flexed." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:49168004
xref: UMLS:C0233283
is_a: HP:0001623 ! Breech presentation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-08-03T12:34:30Z

[Term]
id: HP:0010861
name: Incomplete breech presentation
def: "A kind of breech presentation in which one or both hips are extended and one or both of the fetus' feet are pointing down and entering the birth canal." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:38049006
xref: UMLS:C0426146
is_a: HP:0001623 ! Breech presentation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-08-03T12:34:57Z

[Term]
id: HP:0010862
name: Delayed fine motor development
def: "A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023681
is_a: HP:0001270 ! Motor delay
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-08-03T05:44:08Z

[Term]
id: HP:0010863
name: Receptive language delay
def: "A delay in the acquisition of the ability to understand the speech of others." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:229736005
xref: UMLS:C0454642
is_a: HP:0000750 ! Delayed speech and language development
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-08-03T06:02:52Z

[Term]
id: HP:0010864
name: Intellectual disability, severe
alt_id: HP:0007196
def: "Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [https://orcid.org/0000-0002-0736-9199]
comment: Persons with severe mental retardation can be taught basic life skills and simple tasks with supervision.
synonym: "Early and severe mental retardation" EXACT layperson []
synonym: "Intellectual disability, severe" EXACT layperson []
synonym: "Mental retardation, severe" EXACT layperson []
synonym: "Severe mental retardation" EXACT layperson []
xref: SNOMEDCT_US:40700009
xref: UMLS:C0036857
is_a: HP:0001249 ! Intellectual disability
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-08-03T06:29:35Z

[Term]
id: HP:0010865
name: Oppositional defiant disorder
def: "An enduring pattern of uncooperative, defiant, and hostile behavior towards authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents." []
comment: Oppositional defiant disorder is essentially a persistent pattern of tantrums, arguments, and angry or disruptive behavior that exceeds what can be considered normal.
synonym: "ODD" EXACT abbreviation []
xref: SNOMEDCT_US:18941000
xref: UMLS:C0029121
is_a: HP:0000718 ! Aggressive behavior
property_value: terms:contributor https://orcid.org/0000-0002-1111-7357
property_value: terms:contributor https://orcid.org/0000-0002-7954-5235
property_value: terms:contributor https://orcid.org/0000-0003-2897-0458
property_value: terms:contributor https://orcid.org/0000-0003-4298-5074
property_value: terms:contributor https://orcid.org/0000-0003-4618-6544
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-08-03T07:09:09Z

[Term]
id: HP:0010866
name: Abdominal wall defect
def: "An incomplete closure of the abdominal wall." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abdominal wall defect" EXACT layperson []
synonym: "Congenital anterior abdominal wall defect" EXACT []
xref: UMLS:C0238577
is_a: HP:0004298 ! Abnormality of the abdominal wall
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-08-03T09:55:15Z

[Term]
id: HP:0010867
name: Dyssynergia
def: "A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:20262006
xref: SNOMEDCT_US:39384006
xref: UMLS:C0004134
is_a: HP:0001251 ! Ataxia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-08-18T01:17:10Z

[Term]
id: HP:0010868
name: Ocular dyssynergia
def: "A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023680
is_a: HP:0010867 ! Dyssynergia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-08-18T01:20:05Z

[Term]
id: HP:0010869
name: Asynergia
def: "A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:77743009
xref: UMLS:C0234355
is_a: HP:0010867 ! Dyssynergia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-08-18T01:39:38Z

[Term]
id: HP:0010871
name: Sensory ataxia
def: "Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms." [https://orcid.org/0000-0002-0736-9199]
comment: Afferent (seonsory) ataxia is caused by lackof proprioceptive feedback during gait and stance. It can be caused by lesions to the peripheral nerves, the dorsal root ganglia, or the spinal cord. It can be distinguished from cerebellar ataxia by (1) heavy dependence of the affected individual on visual guidance; (2) a minor degree of oculomotor deficits; and (3) the absence of dysarthria. Afferent ataxia may be associated with impaired tendon reflexes and sensory deficits.
synonym: "Afferent ataxia" EXACT []
synonym: "Ataxia, sensory" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Spinal ataxia" EXACT []
xref: SNOMEDCT_US:445458007
xref: SNOMEDCT_US:69131009
xref: UMLS:C0037921
xref: UMLS:C0240991
is_a: HP:0010831 ! Impaired proprioception
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-08-18T01:57:54Z

[Term]
id: HP:0010872
name: T-wave inversion
def: "An inversion of the T-wave (which is normally positive)." [https://orcid.org/0000-0002-0736-9199]
synonym: "EKG: T-wave inversion" EXACT []
xref: SNOMEDCT_US:59931005
xref: UMLS:C0520888
is_a: HP:0005135 ! Abnormal T-wave
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-08-25T03:29:13Z

[Term]
id: HP:0010873
name: Cervical spinal cord atrophy
def: "Atrophy of the cervical segment of the spinal cord." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C0742191
is_a: HP:0006827 ! Atrophy of the spinal cord
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-08-25T03:41:38Z

[Term]
id: HP:0010874
name: Tendon xanthomatosis
def: "The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Tendon xanthomas" EXACT []
xref: SNOMEDCT_US:69880002
xref: UMLS:C0221253
is_a: HP:0000991 ! Xanthomatosis
is_a: HP:0100261 ! Abnormal tendon morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-08-30T11:01:16Z

[Term]
id: HP:0010875
name: Chaddock reflex
def: "A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:413813004
xref: UMLS:C1531651
is_a: HP:0007256 ! Abnormal pyramidal sign
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-09-07T12:11:07Z

[Term]
id: HP:0010876
name: Abnormal circulating protein concentration
def: "An abnormal level of a circulating protein in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal circulating protein level" EXACT []
synonym: "Abnormality of circulating protein level" EXACT []
synonym: "Blood protein disease" RELATED layperson []
synonym: "Serum protein abnormality" RELATED []
xref: UMLS:C4020763
xref: UMLS:C4020764
xref: UMLS:C4023679
is_a: HP:0032180 ! Abnormal circulating metabolite concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-09-07T01:51:12Z

[Term]
id: HP:0010877
name: Monocular strabismus
def: "A type of strabismus in which the fixating eye is always the same one, while the other eye is constantly deviated. Monocular strabismus is to be distinguished from alternating strabismus, in which either of the eyes 'squints' at different times." [https://orcid.org/0000-0002-0736-9199]
synonym: "Unilateral strabismus" EXACT []
xref: UMLS:C4023678
is_a: HP:0000486 ! Strabismus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-09-08T10:47:57Z

[Term]
id: HP:0010878
name: Fetal cystic hygroma
def: "The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm. Increased NT refers to a measurement above the 95th centile, and the term is used irrespective of whether the collection of fluid is septated or not, and whether it is confined to the neck or envelopes the whole fetus. After 14 weeks, increased NT usually resolves, but in some cases it evolves into nuchal edema or cystic hygromas." [eMedicine:402757, https://orcid.org/0000-0002-0736-9199]
comment: Upon ultrasound examination, fetal cystic hygroma presents as a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts related to the posterior aspect of the neck. Cystic hygromas can range from increased nuchal translucency to thin-walled cystic masses that may become larger than the fetal head. The cysts may result from a lymphatic abnormality, possibly one caused by absent or inefficient connections between the lymphatic and venous systems. Depending on the site, the cut off may vary from site to site. Lowest would be 2.5 mm and highest 3.5 mm.
synonym: "Foetal cystic hygroma" EXACT uk_spelling []
xref: UMLS:C0948242
is_a: HP:0000476 ! Cystic hygroma
is_a: HP:0025667 ! Fetal neck anomaly
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-09-13T08:02:26Z

[Term]
id: HP:0010879
name: Postnatal cystic hygroma
xref: UMLS:C4023677
is_a: HP:0000476 ! Cystic hygroma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-09-13T08:08:47Z

[Term]
id: HP:0010880
name: Increased nuchal translucency
def: "Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy)." [https://orcid.org/0000-0002-0736-9199, PMID:12751779, PMID:15846173, PMID:28511453]
comment: Increased nuchal translucency may be related to a cystic hygroma or to mesenchymal edema. Increased nuchal translucency can be classified into three categories: 1) cardiac abnormalities, combined with abnormal ductus venosus flow velocities, is found, leading to the theory that cardiac failure causes nuchal translucency enlargement; 2) various types of abnormalities are found in the extracellular matrix of the nuchal skin of fetuses with increased nuchal translucency; 3) abnormal lymphatic development is demonstrated in fetuses with increased nuchal translucency.
xref: UMLS:C4023676
is_a: HP:0000969 ! Edema
is_a: HP:0025667 ! Fetal neck anomaly
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-09-13T08:15:19Z

[Term]
id: HP:0010881
name: Abnormality of the umbilical cord
def: "An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta." [https://orcid.org/0000-0002-0736-9199]
synonym: "Umbilical cord issue" EXACT layperson []
xref: SNOMEDCT_US:90009001
xref: UMLS:C0266785
is_a: HP:0001194 ! Abnormalities of placenta or umbilical cord
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-09-13T08:24:04Z

[Term]
id: HP:0010882
name: Pulmonary valve atresia
def: "A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop." [https://orcid.org/0000-0002-0736-9199]
xref: Fyler:1001
xref: SNOMEDCT_US:204342004
xref: SNOMEDCT_US:448564004
xref: UMLS:C0242855
is_a: HP:0001641 ! Abnormal pulmonary valve morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-09-20T11:08:09Z

[Term]
id: HP:0010883
name: Aortic valve atresia
def: "A congenital disorder of the aortic valve in which the orifice of the valve fails to develop." [https://orcid.org/0000-0002-0736-9199]
synonym: "Aortic atresia" EXACT []
xref: SNOMEDCT_US:51442005
xref: UMLS:C0265843
is_a: HP:0001646 ! Abnormal aortic valve morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-09-20T11:09:46Z

[Term]
id: HP:0010884
name: Acromelia
def: "Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
xref: UMLS:C4023675
is_a: HP:0009815 ! Aplasia/hypoplasia of the extremities
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-09-20T11:17:40Z

[Term]
id: HP:0010885
name: Avascular necrosis
def: "A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply." [https://orcid.org/0009-0006-4530-3154]
comment: The interruption of the blood supply may have many different causes such as rapid growth, heredity causes, trauma or overuse, anatomic conformation, dietary imbalances or secondary effects of other diseases.
synonym: "Aseptic bone necrosis" EXACT []
synonym: "Aseptic necrosis" EXACT []
synonym: "Bone infarction" EXACT []
synonym: "Death of bone due to decreased blood supply" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Ischaemic bone necrosis" EXACT uk_spelling []
synonym: "Ischemic bone necrosis" EXACT []
synonym: "Osteochondronecrosis" EXACT []
synonym: "Osteonecrosis" EXACT []
xref: SNOMEDCT_US:240196003
xref: SNOMEDCT_US:398199007
xref: SNOMEDCT_US:72756009
xref: UMLS:C0029445
xref: UMLS:C0085660
xref: UMLS:C0520474
xref: UMLS:C0877326
is_a: HP:0011843 ! Abnormal musculoskeletal physiology
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-09-24T10:11:05Z

[Term]
id: HP:0010886
name: Osteochondritis dissecans
def: "A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage." [https://orcid.org/0009-0006-4530-3154]
comment: Joints that are most often affected by Osteochondrosis dissecans are elbow and hip, but also wrist and ankel joints.
synonym: "Osteochondrosis dissecans" EXACT []
xref: SNOMEDCT_US:82562007
xref: UMLS:C0029421
is_a: HP:0040188 ! Osteochondrosis
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-09-24T10:15:07Z

[Term]
id: HP:0010888
name: Morbus Koehler
def: "Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis." [https://orcid.org/0009-0006-4530-3154]
xref: UMLS:C4023674
is_a: HP:0100323 ! Juvenile aseptic necrosis
is_a: HP:0100339 ! Abnormality of the os naviculare pedis
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-09-25T11:04:19Z

[Term]
id: HP:0010889
name: Morbus Kienboeck
def: "Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum." [https://orcid.org/0009-0006-4530-3154]
comment: Results most often from a stress-fracture and consecutive devascularisation of the Os lunatum.
synonym: "Kienboeck's disease" EXACT []
synonym: "Kienböck's disease" EXACT []
synonym: "Lunatomalacia" EXACT []
xref: SNOMEDCT_US:360466009
xref: SNOMEDCT_US:367356000
xref: SNOMEDCT_US:84062004
xref: UMLS:C0022682
is_a: HP:0004248 ! Abnormal lunate bone morphology
is_a: HP:0100323 ! Juvenile aseptic necrosis
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-09-25T11:04:19Z

[Term]
id: HP:0010890
name: Morbus Osgood-Schlatter
def: "Morbus Osgood-Schlatter is a Juvenile aseptic necrosis affecting the Tuberositas tibiae." [https://orcid.org/0009-0006-4530-3154]
comment: Painfull irritation and localized bony necrosis affecting the Tuberositas tibiae, where the patellar tendon inserts.
synonym: "Osgood Schlatter disease" EXACT []
xref: SNOMEDCT_US:72047008
xref: SNOMEDCT_US:79353000
xref: UMLS:C0029376
is_a: HP:0002992 ! Abnormal tibia morphology
is_a: HP:0100323 ! Juvenile aseptic necrosis
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-09-25T11:04:19Z

[Term]
id: HP:0010891
name: Morbus Scheuermann
def: "A developmental growth retardation of the vertebral end plates that may lead to secondary destruction of the vertebral end plates and protrusion of the nucleus pulposus into the vertebral body (so called Schmorl's nodes as seen on x-rays)." [https://orcid.org/0009-0006-4530-3154]
comment: Scheuermann's disease usually manifests during the 2nd decade and leads to the appearance of the so called adolescence kyphosis. Late manifestations may be wedge-shaped vertebrae, platyspondyly and arthrosis affecting the verterbal collum.
synonym: "Calve disease" EXACT []
synonym: "Juvenile osteochondrosis of the spine" EXACT []
synonym: "Scheuermann disease" EXACT []
synonym: "Scheuermann kyphosis" EXACT []
synonym: "Sherman's Disease" EXACT []
xref: SNOMEDCT_US:53406005
xref: UMLS:C0036310
is_a: HP:0003468 ! Abnormal vertebral morphology
is_a: HP:0100323 ! Juvenile aseptic necrosis
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2010-09-25T11:04:19Z

[Term]
id: HP:0010892
name: Abnormal circulating branched chain amino acid concentration
def: "Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023673
is_a: HP:0033107 ! Abnormal circulating proteinogenic amino acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-11-11T02:53:04Z

[Term]
id: HP:0010893
name: Abnormal circulating phenylalanine concentration
def: "Any deviation from the normal concentration of phenylalanine in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of phenylalanine metabolism" EXACT []
xref: UMLS:C4023672
is_a: HP:0004338 ! Abnormal circulating aromatic amino acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-11-11T03:23:30Z

[Term]
id: HP:0010894
name: Abnormal circulating serine family amino acid concentration
def: "Any deviation from the normal concentration of a serine family amino acid in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of serine family amino acid metabolism" EXACT []
xref: UMLS:C4023671
is_a: HP:0033107 ! Abnormal circulating proteinogenic amino acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-11-30T05:21:41Z

[Term]
id: HP:0010895
name: Abnormal circulating glycine concentration
def: "Any deviation from the normal concentration of glycine in the blood circulation." [HPO_CONTRIBUTOR:gcarletti]
xref: UMLS:C4023670
is_a: HP:0010894 ! Abnormal circulating serine family amino acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-11-30T05:27:24Z

[Term]
id: HP:0010896
name: Hypersarcosinemia
def: "An elevated plasma concentration of sarcosine." [HPO_CONTRIBUTOR:gcarletti]
comment: Sarcosine is the N-methyl derivative of glycine.
synonym: "High plasma sarcosine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:64852002
xref: UMLS:C0268563
is_a: HP:0010898 ! Abnormal circulating sarcosine concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-11-30T05:38:24Z

[Term]
id: HP:0010897
name: Hypersarcosinuria
def: "An elevated urinary concentration of sarcosine." [HPO_CONTRIBUTOR:gcarletti]
synonym: "High urine sarcosine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023669
is_a: HP:0033100 ! Increased proteinogenic amino acid level in urine
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-11-30T05:43:45Z

[Term]
id: HP:0010898
name: Abnormal circulating sarcosine concentration
def: "An deviation from the normal concentration of sarcosine in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
comment: Sarcosine, which is also known as N-methylglycine, is an intermediate and byproduct in glycine synthesis and degradation.
xref: UMLS:C4023668
is_a: HP:0010894 ! Abnormal circulating serine family amino acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-11-30T05:44:10Z

[Term]
id: HP:0010899
name: Abnormal circulating aspartate family amino acid concentration
def: "Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023667
is_a: HP:0033107 ! Abnormal circulating proteinogenic amino acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-12-02T04:40:57Z

[Term]
id: HP:0010900
name: Abnormal circulating threonine concentration
def: "Any deviation from the normal concentration of threonine in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of threonine metabolism" EXACT []
xref: UMLS:C4023666
is_a: HP:0010899 ! Abnormal circulating aspartate family amino acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-12-02T04:42:19Z

[Term]
id: HP:0010901
name: Abnormal circulating methionine concentration
def: "Any deviation from the normal concentration of methionine in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of methionine metabolism" EXACT []
xref: UMLS:C4023665
is_a: HP:0004339 ! Abnormal circulating sulfur amino acid concentration
is_a: HP:0010899 ! Abnormal circulating aspartate family amino acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-12-02T05:15:22Z

[Term]
id: HP:0010902
name: Abnormal circulating glutamine family amino acid concentration
def: "Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023664
is_a: HP:0033107 ! Abnormal circulating proteinogenic amino acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-12-03T04:30:22Z

[Term]
id: HP:0010903
name: Abnormal circulating glutamine concentration
def: "Any deviation from the normal concentration of glutamine in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
comment: Glutamine is a charge-neutral, polar amino acid.
xref: UMLS:C4023663
is_a: HP:0010902 ! Abnormal circulating glutamine family amino acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-12-03T04:31:22Z

[Term]
id: HP:0010904
name: Abnormal circulating histidine concentration
def: "An abnormality of a histidine metabolic process." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of histidine metabolism" EXACT []
xref: UMLS:C4023662
is_a: HP:0033107 ! Abnormal circulating proteinogenic amino acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-12-08T07:13:56Z

[Term]
id: HP:0010905
name: obsolete Abnormality of histidine metabolism
is_obsolete: true
replaced_by: HP:0010904

[Term]
id: HP:0010906
name: Hyperhistidinemia
def: "An increased concentration of histidine in the blood." [HPO_CONTRIBUTOR:gcarletti]
comment: Blood histidine levels over 500 micromole per liter. Normal blood histidine levels are around 80-90 micromole per liter.
synonym: "High blood histidine level" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Histidinemia" RELATED []
xref: SNOMEDCT_US:124628005
xref: SNOMEDCT_US:410058007
xref: UMLS:C0220992
is_a: HP:0010904 ! Abnormal circulating histidine concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-12-08T07:27:47Z

[Term]
id: HP:0010907
name: Abnormal circulating proline concentration
def: "Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation." [HPO_CONTRIBUTOR:gcarletti]
xref: UMLS:C4023661
is_a: HP:0010902 ! Abnormal circulating glutamine family amino acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-12-08T07:50:08Z

[Term]
id: HP:0010908
name: Abnormal circulating lysine concentration
def: "Any deviation from the normal concentration of lysine in the blood circulation." [HPO_CONTRIBUTOR:gcarletti]
synonym: "Abnormality of lysine metabolism" EXACT []
xref: UMLS:C4023660
is_a: HP:0010899 ! Abnormal circulating aspartate family amino acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-12-08T08:05:55Z

[Term]
id: HP:0010909
name: Abnormal circulating arginine concentration
def: "Any deviation from the normal concentration of arginine in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
comment: Arginine is a charged, aliphatic amino acid.
synonym: "Abnormality of arginine metabolism" EXACT []
xref: UMLS:C4023659
is_a: HP:0010902 ! Abnormal circulating glutamine family amino acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-12-08T08:25:05Z

[Term]
id: HP:0010910
name: Hypervalinemia
def: "An increased concentration of valine in the blood." [HPO_CONTRIBUTOR:gcarletti]
synonym: "High blood valine concentration" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:47719001
xref: UMLS:C0268573
is_a: HP:0010914 ! Abnormal circulating valine concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-12-08T08:44:27Z

[Term]
id: HP:0010911
name: Hyperleucinemia
def: "An increased concentration of leucine in the blood." [HPO_CONTRIBUTOR:gcarletti]
comment: Normal leucine blood levels are around 120-160 micromole per liter.
synonym: "High blood leucine concentration" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:24013007
xref: UMLS:C0268576
is_a: HP:0004357 ! Abnormal circulating leucine concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-12-08T08:45:56Z

[Term]
id: HP:0010912
name: Abnormal circulating isoleucine concentration
def: "Any deviation from the normal concentration of isoleucine in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023658
is_a: HP:0010892 ! Abnormal circulating branched chain amino acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-12-08T08:47:47Z

[Term]
id: HP:0010913
name: Hyperisoleucinemia
def: "An increased concentration of isoleucine in the blood." [HPO_CONTRIBUTOR:gcarletti]
comment: Normal isoleucine blood levels are around 60-80 micromole per liter.
synonym: "High blood isoleucine concentration" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023657
is_a: HP:0010912 ! Abnormal circulating isoleucine concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-12-08T08:49:42Z

[Term]
id: HP:0010914
name: Abnormal circulating valine concentration
def: "Any deviation from the normal circulation of valine in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of valine metabolism" EXACT []
xref: UMLS:C4023656
is_a: HP:0010892 ! Abnormal circulating branched chain amino acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-12-08T08:51:14Z

[Term]
id: HP:0010915
name: Abnormal circulating pyruvate family amino acid concentration
def: "An abnormality of a pyruvate family amino acid metabolic process." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of pyruvate family amino acid metabolism" EXACT []
xref: UMLS:C4023655
is_a: HP:0033108 ! Abnormal circulating proteinogenic amino acid derivative concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-12-08T08:55:53Z

[Term]
id: HP:0010916
name: Abnormal circulating alanine concentration
def: "An abnormality of an alanine metabolic process." [HPO_CONTRIBUTOR:gcarletti]
synonym: "Abnormality of alanine metabolism" EXACT []
xref: UMLS:C4023654
is_a: HP:0010915 ! Abnormal circulating pyruvate family amino acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-12-08T08:57:53Z

[Term]
id: HP:0010917
name: Abnormal circulating tyrosine concentration
def: "Any deviation from the normal concentration of tyrosine in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023653
is_a: HP:0004338 ! Abnormal circulating aromatic amino acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-12-08T09:13:53Z

[Term]
id: HP:0010918
name: Abnormal circulating cysteine concentration
def: "An abnormality of a cysteine metabolic process." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023652
is_a: HP:0004339 ! Abnormal circulating sulfur amino acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-12-11T11:45:39Z

[Term]
id: HP:0010919
name: Abnormal circulating homocysteine concentration
def: "An abnormality of a homocysteine metabolic process." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023651
is_a: HP:0004339 ! Abnormal circulating sulfur amino acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-12-11T11:48:52Z

[Term]
id: HP:0010920
name: Zonular cataract
alt_id: HP:0007713
def: "Zonular cataracts are defined to be cataracts that affect specific regions of the lens." [HPO_CONTRIBUTOR:vkumar, https://orcid.org/0000-0002-0736-9199, PMID:18035564]
comment: Zonular cataracts include specific regions of the lens and include nuclear cataracts, which affect the fetal or embryonic lens nucleus and lamellar cataracts. These tend to affect lens fibers that are formed at the same time, resulting in a shell like opacity. Zonular cataracts can also be characterized as dense or pulverulent (dusty appearing), and can be accompanied by arcuate opacities extending into the lens cortex, called cortical riders.
xref: UMLS:C1861821
is_a: HP:0000518 ! Cataract
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-12-12T12:00:37Z

[Term]
id: HP:0010921
name: Coralliform cataract
def: "A 'coral-like' pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form." [HPO_CONTRIBUTOR:vkumar, https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1392104
is_a: HP:0010920 ! Zonular cataract
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-12-12T12:16:28Z

[Term]
id: HP:0010922
name: Membranous cataract
def: "A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens." [https://orcid.org/0000-0002-0736-9199, PMID:17539799]
xref: UMLS:C0524524
is_a: HP:0000518 ! Cataract
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-12-12T12:31:45Z

[Term]
id: HP:0010923
name: Anterior subcapsular cataract
def: "A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:315352000
xref: UMLS:C1112768
is_a: HP:0000523 ! Subcapsular cataract
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-12-12T12:51:55Z

[Term]
id: HP:0010924
name: Posterior cortical cataract
def: "A cataract that affects the posterior part of the cortex of the lens." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023650
is_a: HP:0100019 ! Cortical cataract
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-12-12T12:55:36Z

[Term]
id: HP:0010925
name: Nuclear punctate cataract
xref: UMLS:C4023649
is_a: HP:0007648 ! Punctate cataract
is_a: HP:0100018 ! Nuclear cataract
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-12-12T04:26:25Z

[Term]
id: HP:0010926
name: Aculeiform cataract
def: "A kind of nuclear cataract characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens." [https://orcid.org/0000-0002-0736-9199, PMID:10521291, PMID:9718335]
comment: This phenotype is characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens. Some crystals may be 11 mm in length, and their biochemical composition is not known. This type of cataract is considered to be different from the corraliform cataract, which does not show the needlelike projections. This opacity does not appear to respect the sutures or the direction of the lens fibers (Francois 1963) and appears to originate from the fetal and postnatal nuclei, suggesting a congenital origin with some postnatal progression, if any. See Figure 1 of PMID:10521291.
synonym: "Fasciculiform cataract" EXACT []
synonym: "Frosted cataract" EXACT []
synonym: "Needle-shaped cataract" EXACT []
xref: UMLS:C1861832
is_a: HP:0100018 ! Nuclear cataract
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2010-12-19T03:47:35Z

[Term]
id: HP:0010927
name: Abnormal blood inorganic cation concentration
def: "An abnormality of divalent inorganic cation homeostasis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of divalent inorganic cation homeostasis" EXACT []
xref: UMLS:C4023648
is_a: HP:0010929 ! Abnormal blood cation concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-06T07:47:18Z

[Term]
id: HP:0010928
name: obsolete Increased urinary orotic acid concentration
is_obsolete: true
replaced_by: HP:0003218

[Term]
id: HP:0010929
name: Abnormal blood cation concentration
def: "An abnormality of cation homeostasis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of cation homeostasis" EXACT []
xref: UMLS:C4023646
is_a: HP:0003111 ! Abnormal blood ion concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-06T10:36:04Z

[Term]
id: HP:0010930
name: Abnormal blood monovalent inorganic cation concentration
def: "An abnormality of monovalent inorganic cation homeostasis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of monovalent inorganic cation homeostasis" EXACT []
xref: UMLS:C4023645
is_a: HP:0010929 ! Abnormal blood cation concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-06T10:38:38Z

[Term]
id: HP:0010931
name: Abnormal blood sodium concentration
def: "An abnormal concentration of sodium." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal blood Na+ levels" EXACT abbreviation []
synonym: "Abnormal circulating Na concentration" EXACT abbreviation []
synonym: "Abnormality of sodium homeostasis" EXACT []
xref: UMLS:C4023644
is_a: HP:0010930 ! Abnormal blood monovalent inorganic cation concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-06T10:40:20Z

[Term]
id: HP:0010932
name: Abnormal circulating nucleobase concentration
def: "An abnormality of a nucleobase metabolic process." [https://orcid.org/0000-0002-0736-9199]
comment: This term is used to refers to abnormality in chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine.
synonym: "Abnormal nucleoside levels" RELATED []
xref: UMLS:C4020762
xref: UMLS:C4023643
is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-06T10:46:17Z

[Term]
id: HP:0010933
name: Hyperxanthinemia
def: "An increased level of xanthine in the blood circulation." [https://orcid.org/0000-0002-0736-9199, PMID:9153281]
comment: Xanthine is a purine base that is a product of purine degradation.
synonym: "Increased circulating xanthine concentration" EXACT []
xref: UMLS:C4023642
is_a: HP:0004368 ! Increased circulating purine concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-10T07:53:26Z

[Term]
id: HP:0010934
name: Xanthinuria
def: "An increased concentration of xanthine in the urine." [HPO_CONTRIBUTOR:gcarletti]
comment: Xanthinuria is generally caused by a defect in the xanthine oxidase, an enzyme that catalyzes the oxidation of hypoxanthine to xanthine and can further catalyze the oxidation of xanthine to uric acid. The formation of xanthine stones in the urinary tract is the main evidence of this abnormality.
synonym: "Increased urinary xanthine" EXACT []
xref: SNOMEDCT_US:190919008
xref: SNOMEDCT_US:54627004
xref: UMLS:C0220988
is_a: HP:0033354 ! Abnormal urine metabolite level
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-10T07:55:12Z

[Term]
id: HP:0010935
name: Abnormality of the upper urinary tract
def: "An abnormality of the upper urinary tract." [https://orcid.org/0000-0002-0736-9199]
comment: The upper urinary tract is a subdivision of urinary system which consists of the kidney and the ureters.
synonym: "Abnormality of the upper urinary tract" EXACT layperson []
xref: UMLS:C4023641
is_a: HP:0000079 ! Abnormality of the urinary system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-16T11:37:29Z

[Term]
id: HP:0010936
name: Abnormality of the lower urinary tract
def: "An abnormality of the lower urinary tract." [https://orcid.org/0000-0002-0736-9199]
comment: The lower urinary tract is a subdivision of urinary system which consists of the urinary bladder and the urethra.
xref: UMLS:C4023640
is_a: HP:0000079 ! Abnormality of the urinary system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-16T11:39:17Z

[Term]
id: HP:0010937
name: Abnormal nasal skeleton morphology
def: "An abnormality of the nasal skeleton." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the nasal skeleton" EXACT layperson []
synonym: "Anomaly of the nasal skeleton" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the bones of the nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the nasal skeleton" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Distortion of the bones of the nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Distortion of the nasal skeleton" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the bones of the nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the nasal skeleton" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023639
xref: UMLS:C4280361
is_a: HP:0005105 ! Abnormal nasal morphology
is_a: HP:0011842 ! Abnormal skeletal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-16T02:19:38Z

[Term]
id: HP:0010938
name: Abnormal external nose morphology
def: "An abnormality of the external nose." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the external nose" EXACT layperson []
synonym: "Anomaly of the external nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the external nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the external nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C2164724
xref: UMLS:C4023638
xref: UMLS:C4280360
is_a: HP:0005105 ! Abnormal nasal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-16T02:21:10Z

[Term]
id: HP:0010939
name: Abnormal nasal bone morphology
def: "An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the nasal bone" EXACT layperson []
synonym: "Anomaly of the nasal bones" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the nasal bones" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the nasal bones" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023637
is_a: HP:0010937 ! Abnormal nasal skeleton morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-16T02:28:45Z

[Term]
id: HP:0010940
name: Aplasia/Hypoplasia of the nasal bone
def: "Absence or underdevelopment of the nasal bone." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023636
is_a: HP:0010939 ! Abnormal nasal bone morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-16T02:31:16Z

[Term]
id: HP:0010941
name: Aplasia of the nasal bone
def: "Absence of the nasal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absence of the nasal bone" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Agenesis of the nasal bone" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of the nasal bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Lack of development of the nasal bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing nasal bone" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:91900007
xref: UMLS:C0339850
xref: UMLS:C0339851
xref: UMLS:C4023635
is_a: HP:0010940 ! Aplasia/Hypoplasia of the nasal bone
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-16T02:32:39Z

[Term]
id: HP:0010942
name: Echogenic intracardiac focus
def: "A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart." [https://orcid.org/0000-0002-0736-9199, PMID:16100637, PMID:9527573]
comment: An echogenic intracardiac focus (EIF) is generally believed to be a normal variant, observed in 5% of all fetuses during second trimester sonography, but the risk of aneuploidies such as Down syndrome is increased in fetuses with EIF.
xref: UMLS:C4023634
is_a: HP:0010948 ! Abnormal fetal cardiovascular morphology
is_a: HP:0011425 ! Fetal ultrasound soft marker
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-16T02:52:26Z

[Term]
id: HP:0010943
name: Echogenic fetal bowel
def: "Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone." [https://orcid.org/0000-0002-0736-9199, PMID:16100637, PMID:20175047]
comment: Echogenic fetal bowel may be observed in fetuses with normal outcomes, but may also be a marker for diseases such as cystic fibrosis, congenital infection, chromosomal anomalies, and intraamniotic bleeding. This finding can be observed on prenatal ultrasound. The echogenicity has been classified as either focal or multifocal. Grade 2 suggests that echogenicity is equal to bone whereas grade 3 suggests that it is greater.
synonym: "Echogenic bowel" EXACT []
synonym: "Echogenic foetal bowel" EXACT uk_spelling []
synonym: "Hyperechogenic fetal bowel" EXACT []
synonym: "Hyperechogenic foetal bowel" EXACT uk_spelling []
synonym: "Prenatal ultrasound: hyperechogenic bowel" EXACT []
xref: UMLS:C2936423
is_a: HP:0011425 ! Fetal ultrasound soft marker
is_a: HP:0034207 ! Abnormal fetal gastrointestinal system morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-16T03:04:36Z

[Term]
id: HP:0010944
name: Abnormal renal pelvis morphology
def: "An abnormality of the renal pelvis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the renal pelvis" EXACT []
xref: UMLS:C4023633
is_a: HP:0012210 ! Abnormal renal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-16T03:33:55Z

[Term]
id: HP:0010945
name: Fetal pyelectasis
def: "Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement." [https://orcid.org/0000-0002-0736-9199, PMID:16100637]
comment: The renal pelvis is the part of the kidney that collects urine. Fetal pyelectasis is a prenatal ultrasound finding that is diagnosed with enlargement of the renal pelvis from 4 to 10 millimeters. In many cases, fetal pyelectasis resolves spontaneously. Note that dilatation of the renal pelvis to more than 10 mm is referred to as severe pyelectasis or hydronephrosis. Measurements less than 5mm are normal, should not be designated as pyelectasis, and should not be reported (PMID:16100637).
synonym: "Fetal renal pelvic dilatation" EXACT []
synonym: "Foetal pyelectasis" EXACT uk_spelling []
synonym: "Foetal renal pelvic dilatation" EXACT uk_spelling []
synonym: "Mild fetal hydronephrosis" EXACT []
synonym: "Mild foetal hydronephrosis" EXACT uk_spelling []
xref: SNOMEDCT_US:430035004
xref: UMLS:C2317073
is_a: HP:0010944 ! Abnormal renal pelvis morphology
is_a: HP:0011425 ! Fetal ultrasound soft marker
is_a: HP:0034242 ! Abnormal fetal genitourinary system morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-16T03:36:31Z

[Term]
id: HP:0010946
name: Dilatation of the renal pelvis
def: "The presence of dilatation of the renal pelvis." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1868864
is_a: HP:0010944 ! Abnormal renal pelvis morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-16T03:39:20Z

[Term]
id: HP:0010947
name: Abnormality of ductus venosus blood flow
def: "A first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus." [https://orcid.org/0000-0002-0736-9199, PMID:16449256, PMID:21048453]
comment: The ductus venosus is a bypass between the umbilical vein and the inferior vena cava in the fetus. The blood flow through this bypass decreases immediately after birth. Functional closure, which is followed by anatomic closure, is virtually complete within a few weeks of birth. The typical abnormal finding in abnormal ductus venosus flow is a reversed a-wave.
xref: UMLS:C4023632
is_a: HP:0034190 ! Abnormal fetal cardiovascular physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-16T03:50:45Z

[Term]
id: HP:0010948
name: Abnormal fetal cardiovascular morphology
def: "A structural abnormality of the fetal circulation system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the fetal cardiovascular system" EXACT []
synonym: "Abnormality of the fetal circulation system" EXACT []
synonym: "Abnormality of the foetal cardiovascular system" EXACT uk_spelling []
synonym: "Abnormality of the foetal circulation system" EXACT uk_spelling []
xref: UMLS:C4021210
is_a: HP:0030680 ! Abnormal cardiovascular system morphology
is_a: HP:0034058 ! Abnormal fetal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-16T03:53:44Z

[Term]
id: HP:0010949
name: Abnormality of umbilical vein blood flow
def: "A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein." [https://orcid.org/0000-0002-0736-9199]
comment: Umbilical vein blood flow (UVBF) is closely related to the mass of placental cotyledons and is considered an expression of the amount of oxygen and nutrients transferred from the mother to the fetus.
xref: UMLS:C4023631
is_a: HP:0025657 ! Abnormal umbilical blood flow measurement
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-16T04:15:43Z

[Term]
id: HP:0010950
name: Abnormal fourth ventricle morphology
def: "An abnormality of the fourth ventricle." [https://orcid.org/0000-0002-0736-9199]
comment: The fourth ventricle is the cerebral ventricle that extends from the cerebral aqueduct to the obex, and is located within the pons and the upper part of the medulla oblongata.
synonym: "Abnormality of the fourth ventricle" EXACT []
xref: UMLS:C4023630
is_a: HP:0002118 ! Abnormal cerebral ventricle morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-17T12:58:00Z

[Term]
id: HP:0010951
name: Abnormal third ventricle morphology
def: "An abnormality of the third ventricle." [https://orcid.org/0000-0002-0736-9199]
comment: The third ventricle is the cerebral ventricle that is located in the midline between the left and right lateral ventricles.
synonym: "Abnormality of the third ventricle" EXACT []
xref: UMLS:C4023629
is_a: HP:0002118 ! Abnormal cerebral ventricle morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-17T01:00:31Z

[Term]
id: HP:0010952
name: Mild fetal ventriculomegaly
def: "A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637)." [https://orcid.org/0000-0002-0736-9199, PMID:16100637]
comment: A ventricular atrial diameter of more than 10 mm at 20-24 weeks of gestation has been accepted as defining ventriculomegaly because it represents at least 3 standard deviations above the mean (which is roughly 5 mm at 20-24 weeks of gestation). If the diameter is above 15 mm, the ventriculomegaly is considered to be severe. Amongst the most common causes of ventriculomegaly are impaired absorption of CSF, developmental cerebral defects, and destroyed brain tissue.
synonym: "Mild foetal ventriculomegaly" EXACT uk_spelling []
xref: UMLS:C4023628
is_a: HP:0002119 ! Ventriculomegaly
is_a: HP:0011425 ! Fetal ultrasound soft marker
is_a: HP:0034206 ! Abnormal fetal central nervous system morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-17T01:36:57Z

[Term]
id: HP:0010953
name: Noncommunicating hydrocephalus
def: "A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed." [eMedicine:1135286, https://orcid.org/0000-0002-0736-9199]
comment: The most common form of noncommunicating hydrocephalus is obstructive and is caused by intraventricular or extraventricular mass-occupying lesions that disrupt the ventricular anatomy.
xref: SNOMEDCT_US:230746009
xref: SNOMEDCT_US:82346000
xref: UMLS:C0549423
is_a: HP:0000238 ! Hydrocephalus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-17T02:22:26Z

[Term]
id: HP:0010954
name: Hypoplastic right heart
def: "Underdevelopment of the right-sided structures of the heart." [https://orcid.org/0000-0002-0736-9199]
comment: Hypoplastic right heart syndrome (HRHS) causes inadequate blood flow to the lungs postnatally and thus leads to cyanosis. HRHS involves pulmonary valve atresia, hypoplasia of the right ventricle, hypoplasia of the tricuspid valve, and a small, hypoplastic pulmonary artery. As the ductus arteriosus closes postnatally, infants with HRHS become critically ill.
synonym: "Hypoplastic right heart syndrome" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Underdeveloped right heart" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:268180007
xref: SNOMEDCT_US:39589002
xref: UMLS:C0265856
xref: UMLS:C0344963
is_a: HP:0001961 ! Hypoplastic heart
is_a: HP:0011723 ! Congenital malformation of the right heart
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-17T03:31:37Z

[Term]
id: HP:0010955
name: Dilatation of the bladder
def: "The presence of a dilated urinary bladder." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C0549253
is_a: HP:0025487 ! Abnormal bladder morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-18T10:42:26Z

[Term]
id: HP:0010956
name: Fetal megacystis
def: "Fetal megacystis is an abnormally enlarged bladder identified at any gestational age." [https://orcid.org/0000-0002-0736-9199, PMID:20837325]
comment: Abnormal enlargement of the fetal bladder can be detected by prenatal ultrasound by fourteen weeks of gestation. In some cases, dilatation of the fetal bladder is transient and resolves without sequelae, and in other cases it is the earliest manifestation of bladder outlet obstruction.
synonym: "Foetal megacystis" EXACT uk_spelling []
xref: UMLS:C2931117
is_a: HP:0010955 ! Dilatation of the bladder
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-18T10:43:58Z

[Term]
id: HP:0010957
name: Congenital posterior urethral valve
def: "A developmental defect resulting in an obstructing membrane in the posterior male urethra." [eMedicine:1016086, https://orcid.org/0000-0002-0736-9199]
comment: Congenital posterior urethral valve is a cause of bladder outlet obstruction in male newborns. It results from a failure of resorption of the caudal end of the Wolffian duct into the primitive cloaca at the site of the future verumontanum in the posterior urethra (Following normal resorption of the posterior urethral valve there remain the posterior urethral folds, also called plicae colliculi).
synonym: "Congenital obstructing posterior urethral membranes" EXACT []
synonym: "COPUM" EXACT abbreviation []
synonym: "Posterior urethral valve" EXACT []
synonym: "Posterior urethral valves" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:253900005
xref: UMLS:C0238506
is_a: HP:0010481 ! Urethral valve
is_a: HP:0034378 ! Urethrovesical occlusion
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-18T10:51:22Z

[Term]
id: HP:0010958
name: Bilateral renal agenesis
def: "A bilateral form of agenesis of the kidney." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:41962002
xref: UMLS:C1609433
is_a: HP:0000104 ! Renal agenesis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-18T11:42:58Z

[Term]
id: HP:0010959
name: Congenital pulmonary airway malformation
alt_id: HP:0006540
alt_id: HP:0006545
def: "Congenital pulmonary airway malformation (CPAM) - previously known as congenital cystic adenomatoid malformation (CCAM) - is a relatively rare developmental malformation of the lower respiratory tract. It is a hamartomatous, dysplastic developmental abnormality of the lung characterized by abnormal airway patterning during lung branching morphogenesis and is formed by abnormal branching of the immature bronchioles." [https://orcid.org/0000-0002-0736-9199, PMID:28638495]
comment: The term CPAM has been recommended as being preferable to the term congenital cystic adenomatoid malformation, since the lesions are cystic or adenomatoid in only a limited number of cases. Only three types of CPAMs are distinguished at imaging: large cyst CPAM (type I) and small cyst CPAM (type II), which constitute macrocystic CPAMs; and microcystic or solid type (type III) lesions, which have cysts that are smaller than 5 mm in diameter, with no discernible cystic spaces.
synonym: "CCAM" EXACT abbreviation []
synonym: "Congenital cystic adenomatoid malformation" EXACT []
synonym: "Congenital cystic adenomatoid malformation of the lung" EXACT []
synonym: "Congenital cystic disease of the lung" EXACT []
synonym: "Cystic adenomatoid lung disease" EXACT []
xref: SNOMEDCT_US:111318005
xref: UMLS:C0010668
is_a: HP:0005948 ! Multiple pulmonary cysts
is_a: HP:0034243 ! Abnormal fetal pulmonary morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-18T11:56:02Z

[Term]
id: HP:0010960
name: obsolete Bronchopulmonary sequestration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
is_obsolete: true
replaced_by: HP:0100632
creation_date: 2011-01-18T12:28:51Z

[Term]
id: HP:0010961
name: obsolete Intralobar sequestration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
is_obsolete: true
replaced_by: HP:0011278
creation_date: 2011-01-18T12:34:14Z

[Term]
id: HP:0010962
name: obsolete Extralobar sequestration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
is_obsolete: true
replaced_by: HP:0006544
creation_date: 2011-01-18T12:36:55Z

[Term]
id: HP:0010963
name: Absence of stomach bubble on fetal sonography
def: "By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation." [https://orcid.org/0000-0002-0736-9199, PMID:20538709]
comment: The absence of stomach bubble on fetal sonography can be an indication of malformations such as esophageal atresia, especially in combination with polyhydramnios.
synonym: "Absence of stomach bubble on foetal sonography" EXACT uk_spelling []
synonym: "Absent stomach bubble" EXACT []
synonym: "Non-visualisation of the fetal stomach" EXACT []
synonym: "Non-visualisation of the foetal stomach" EXACT uk_spelling []
xref: UMLS:C4023625
is_a: HP:0011425 ! Fetal ultrasound soft marker
is_a: HP:0034207 ! Abnormal fetal gastrointestinal system morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-18T12:45:41Z

[Term]
id: HP:0010964
name: Abnormal circulating long-chain fatty-acid concentration
def: "Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
comment: A long-chain fatty-acid is defined as an aliphatic monocarboxylic acid with a chain length of C13 to C18.
xref: UMLS:C4023624
is_a: HP:0004359 ! Abnormal circulating fatty-acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-27T08:05:00Z

[Term]
id: HP:0010965
name: Abnormal circulating phytanic acid concentration
def: "Any deviation from the normal concentration of phytanic acid in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
comment: Phytanic acid is a branched-chain saturated fatty acid consisting of hexadecanoic acid carrying methyl substituents at positions 3, 7, 11 and 15.
synonym: "Abnormal circulating phytanic acid level" EXACT []
xref: UMLS:C4023623
is_a: HP:0010964 ! Abnormal circulating long-chain fatty-acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-27T08:07:48Z

[Term]
id: HP:0010966
name: Abnormal circulating fatty-acid anion concentration
def: "Any deviation from the normal concentration of a fatty acid anion in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
comment: A fatty acid anion is the conjugate base of a fatty acid.
synonym: "Abnormality of fatty acid anion" EXACT []
xref: UMLS:C4021209
is_a: HP:0004359 ! Abnormal circulating fatty-acid concentration
is_a: HP:0010996 ! Abnormal circulating monocarboxylic acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-27T09:17:48Z

[Term]
id: HP:0010967
name: Abnormal circulating carnitine concentration
def: "Any deviation from the normal concentration of carnitine in the blood circulation." [HPO_CONTRIBUTOR:gcarletti]
comment: L-carnitine (3-hydroxy-4-N.trimethylammonium butyrate) plays a key role in facilitating the transport of long-chain fatty acids from the cytosol into the mitochondrial matrix, where they undergo 13-oxidation.
synonym: "Carnitine levels abnormal" RELATED []
xref: UMLS:C4020761
xref: UMLS:C4021855
is_a: HP:0010966 ! Abnormal circulating fatty-acid anion concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-27T09:19:42Z

[Term]
id: HP:0010968
name: Abnormality of liposaccharide metabolism
def: "An abnormality of liposaccharide metabolism." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023622
is_a: HP:0032243 ! Abnormal tissue metabolite concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-27T09:22:56Z

[Term]
id: HP:0010969
name: Abnormality of glycolipid metabolism
def: "An abnormality of glycolipid metabolism." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023621
is_a: HP:0032243 ! Abnormal tissue metabolite concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-01-27T09:25:31Z

[Term]
id: HP:0010970
name: Blood group antigen abnormality
def: "An abnormality of an erythrocyte cell surface molecule." [https://orcid.org/0000-0002-0736-9199]
comment: During development, the human immune system recognizes antigens of the body as 'self' and does not generate antibodies against them.
xref: UMLS:C4023620
is_a: HP:0001877 ! Abnormal erythrocyte morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-06T12:37:33Z

[Term]
id: HP:0010971
name: Absence of Lutheran antigen on erythrocytes
def: "Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023619
is_a: HP:0010970 ! Blood group antigen abnormality
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-06T12:40:21Z

[Term]
id: HP:0010972
name: Anemia of inadequate production
alt_id: HP:0005501
alt_id: HP:0005504
alt_id: HP:0005553
def: "A kind of anemia characterized by inadequate production of erythrocytes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Anaemia of inadequate production" EXACT uk_spelling []
synonym: "Anemia, dyserythropoietic" EXACT []
synonym: "Defective erythropoiesis" EXACT []
synonym: "Dyserythropoietic anaemia" EXACT uk_spelling []
synonym: "Dyserythropoietic anemia" EXACT []
synonym: "Ineffective erythropoiesis" EXACT []
xref: SNOMEDCT_US:70730006
xref: UMLS:C0392708
xref: UMLS:C0678199
is_a: HP:0001903 ! Anemia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-06T02:24:54Z

[Term]
id: HP:0010974
name: Abnormal myeloid leukocyte morphology
def: "An abnormality of myeloid leukocytes." [https://orcid.org/0000-0002-0736-9199]
comment: A myeloid leukocyte refers to a cell of the monocyte, granulocyte, or mast cell lineage.
synonym: "Abnormality of myeloid leukocytes" EXACT []
xref: UMLS:C4023618
is_a: HP:0001881 ! Abnormal leukocyte morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-06T09:24:46Z

[Term]
id: HP:0010975
name: Abnormal B cell count
def: "Abnormal increase or decrease of total B cells or any deviation of the propoortion of a B cell subtype. B cells are commonly characterized as CD19+ or CD20+ lymphocytes, or their subpopulations, in the blood, compared to a reference range for a given sex and age-group, measured ex vivo." [https://orcid.org/0000-0002-0736-9199, MP:0002458]
synonym: "Abnormal number of B cells" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Abnormal numbers of B cells" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Abnormality of B cell count" EXACT []
synonym: "Abnormality of B cell numbers" EXACT []
xref: UMLS:C4021208
is_a: HP:0002846 ! Abnormal B cell morphology
is_a: HP:0040088 ! Abnormal lymphocyte count
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-06T09:38:18Z

[Term]
id: HP:0010976
name: Decreased total B cell count
alt_id: HP:0002956
def: "The absolute number of B cells in the blood, per microlitre is below the lower limit of normal of the reference range for the appropriate sex and age-group." [https://orcid.org/0000-0002-0736-9199, PMID:32569607]
comment: Plasma B cells differentiate from B cells and secrete large amounts of antibodies.
synonym: "B cell deficiency" EXACT []
synonym: "B cell lymphopenia" EXACT []
synonym: "B lymphocytopenia" EXACT []
synonym: "Decreased B cell count" EXACT []
synonym: "Low B cell count" EXACT layperson []
synonym: "Reduction in B cell number" EXACT []
xref: UMLS:C1855067
is_a: HP:0025806 ! Abnormal total B cell count
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-06T09:44:11Z

[Term]
id: HP:0010977
name: Abnormal phagocytosis
def: "An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation." [https://orcid.org/0000-0002-0736-9199, PMID:28691037]
xref: UMLS:C4023617
is_a: HP:0010978 ! Abnormality of immune system physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-06T10:31:46Z

[Term]
id: HP:0010978
name: Abnormality of immune system physiology
def: "A functional abnormality of the immune system." [https://orcid.org/0000-0002-0736-9199, MP:0001790]
xref: UMLS:C4023616
is_a: HP:0002715 ! Abnormality of the immune system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-07T04:28:55Z

[Term]
id: HP:0010979
name: Abnormality of lipoprotein cholesterol concentration
def: "An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood." [https://orcid.org/0000-0002-0736-9199]
comment: Lipoproteins transport fats (lipids) in the blood circulation. Lipids are insoluble in water, meaning that they could not be transported in the blood circulation on their own. There are five major types of lipoproteins: (i) chylomicrons; VLDL (very low-density lipoprotein); (iii) IDL (intermediate-density lipoprotein); (iv) LDL (low-density lipoprotein); and (v) HDL (high-density lipoprotein). Clinical measures assess the amount of cholesterol carried by different lipoproteins. For instance, LDL-cholesterol (LDL-C) is the maount of cholesterol carried by LDL.
synonym: "Abnormality of the level of lipoprotein cholesterol" EXACT []
xref: UMLS:C4023615
is_a: HP:0003107 ! Abnormal circulating cholesterol concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-07T09:47:29Z

[Term]
id: HP:0010980
name: Hyperlipoproteinemia
def: "An abnormal increase in the level of lipoprotein cholesterol in the blood." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:3744001
xref: UMLS:C0020476
is_a: HP:0010979 ! Abnormality of lipoprotein cholesterol concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-07T10:56:30Z

[Term]
id: HP:0010981
name: Hypolipoproteinemia
def: "An abnormal decrease in the level of lipoprotein cholesterol in the blood." []
synonym: "Lack of fat in blood" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:267436001
xref: SNOMEDCT_US:363140000
xref: UMLS:C0020623
is_a: HP:0010979 ! Abnormality of lipoprotein cholesterol concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-07T11:01:50Z

[Term]
id: HP:0010982
name: Polygenic inheritance
def: "A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases." [https://orcid.org/0000-0002-0736-9199, ISBN:978-0192628961]
synonym: "Common, complex disease" RELATED []
synonym: "Complex disease" RELATED []
synonym: "Multifactorial inheritance" RELATED []
xref: UMLS:C1148552
is_a: HP:0001426 ! Non-Mendelian inheritance
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-08T10:12:39Z

[Term]
id: HP:0010983
name: Oligogenic inheritance
def: "A type of multifactorial inheritance governed by the simultaneous action of a few gene loci. It is recommended this term be used for traits governed by three loci, although it is noted that usage of this term in the literature is not uniform." [https://orcid.org/0000-0002-0736-9199, ISBN:978-0192628961]
xref: UMLS:C1136026
is_a: HP:0001426 ! Non-Mendelian inheritance
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-08T10:13:16Z

[Term]
id: HP:0010984
name: Digenic inheritance
def: "A type of multifactorial inheritance governed by the simultaneous action of two gene loci." [https://orcid.org/0000-0002-0736-9199, ISBN:978-0192628961]
xref: UMLS:C4023614
is_a: HP:0001426 ! Non-Mendelian inheritance
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-08T10:13:54Z

[Term]
id: HP:0010985
name: obsolete Gonosomal inheritance
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
is_obsolete: true
replaced_by: HP:0000005
creation_date: 2011-02-08T10:16:28Z

[Term]
id: HP:0010987
name: Abnormal cellular immune system morphology
def: "An abnormality of the morphology or counts of the cells that make up the immune system." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023612
is_a: HP:0032251 ! Abnormal immune system morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-08T12:49:47Z

[Term]
id: HP:0010988
name: Abnormality of the extrinsic pathway
def: "An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade." [https://orcid.org/0000-0002-0736-9199]
comment: The extrinsic pathway is a protein activation cascade that contributes to blood coagulation and consists of the self-limited process linking exposure and activation of tissue factor to the activation of clotting factor X.
xref: UMLS:C4023611
is_a: HP:0003256 ! Abnormality of the coagulation cascade
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-08T01:59:22Z

[Term]
id: HP:0010989
name: Abnormality of the intrinsic pathway
def: "An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade." [https://orcid.org/0000-0002-0736-9199]
comment: The intrinsic pathway requires coagulation factors VIII, IX, X, XI, and XII, as well as the proteins prekallikrein (PK) and high-molecular-weight kininogen (HK or HMWK), in addition to calcium ions and phospholipids secreted from platelets.
xref: UMLS:C4023610
is_a: HP:0003256 ! Abnormality of the coagulation cascade
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-08T04:26:55Z

[Term]
id: HP:0010990
name: Abnormality of the common coagulation pathway
def: "An abnormality of blood coagulation, common pathway." [https://orcid.org/0000-0002-0736-9199]
comment: The common pathway is a protein activation cascade that contributes to blood coagulation and consists of events leading from the formation of activated factor X to the formation of active thrombin, the cleavage of fibrinogen by thrombin, and the formation of cleaved fibrin into a stable multimeric, cross-linked complex.
xref: UMLS:C4023609
is_a: HP:0003256 ! Abnormality of the coagulation cascade
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-08T04:31:53Z

[Term]
id: HP:0010991
name: Abnormal morphology of the abdominal musculature
def: "An abnormality of the abdominal musculature." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the abdominal musculature" EXACT []
xref: UMLS:C4023608
is_a: HP:0004298 ! Abnormality of the abdominal wall
is_a: HP:0011805 ! Abnormal skeletal muscle morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-09T08:05:11Z

[Term]
id: HP:0010992
name: Stress urinary incontinence
def: "Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing." [https://orcid.org/0000-0002-0736-9199, PMID:12559262]
xref: SNOMEDCT_US:22220005
xref: UMLS:C0042025
is_a: HP:0000020 ! Urinary incontinence
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-09T12:13:46Z

[Term]
id: HP:0010993
name: Abnormal cerebral subcortex morphology
def: "An abnormality of the cerebral subcortex." [https://orcid.org/0000-0002-0736-9199]
comment: The cerebral subcortex contains the basal ganglia and the cerebral white matter.
synonym: "Abnormality of the cerebral medulla" EXACT []
synonym: "Abnormality of the cerebral subcortex" EXACT []
xref: UMLS:C4021207
is_a: HP:0002060 ! Abnormal cerebral morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-09T10:32:54Z

[Term]
id: HP:0010994
name: Abnormal corpus striatum morphology
def: "Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens." [https://orcid.org/0000-0002-0736-9199, PMID:21469956]
comment: The striatum (also known as the neostriatum or striate nucleus) contains the caudate nucleus and putamen, which are separated from one another by a white matter tract called the internal capsule. The striatum is part of the basal ganglia and receives input from the cerebral cortex. Essentially all cortical areas (sensory, motor and associational) project to the striatum. The other major input to the striatum comes from the thalamus, particularly the intralaminar thalamic nuclei.
synonym: "Abnormality of the neostriatum" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Abnormality of the striate nucleus" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Abnormality of the striatum" EXACT []
xref: UMLS:C4023607
is_a: HP:0002134 ! Abnormal basal ganglia morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-10T08:31:42Z

[Term]
id: HP:0010995
name: Abnormal circulating dicarboxylic acid concentration
def: "Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
comment: A dicarboxylic acid is an oxoacid containing two carboxy groups.
xref: UMLS:C4023606
is_a: HP:0004354 ! Abnormal circulating carboxylic acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-10T02:01:02Z

[Term]
id: HP:0010996
name: Abnormal circulating monocarboxylic acid concentration
def: "Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation." [HPO_CONTRIBUTOR:gcarletti]
xref: UMLS:C4023605
is_a: HP:0004354 ! Abnormal circulating carboxylic acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-10T02:20:42Z

[Term]
id: HP:0010997
name: Chromosomal breakage induced by ionizing radiation
def: "Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation." [https://orcid.org/0009-0006-4530-3154, PMID:16814619]
comment: Increased tendency to chromosomal breakage induced by crosslinking agents is typical for several disorders including ataxia teleangiectasia and Nijmegen breakage syndrome.
synonym: "Chromosomal breakage induced by ionising radiation" EXACT uk_spelling []
synonym: "Increased cellular radiosensitivity" EXACT []
synonym: "Radiation-induced chromosome instability" EXACT []
xref: UMLS:C4021206
is_a: HP:0040012 ! Chromosome breakage
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-10T06:10:33Z

[Term]
id: HP:0010998
name: Increased susceptibility to spontaneous sister chromatid exchange
def: "An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells." [https://orcid.org/0009-0006-4530-3154]
comment: Increased susceptibility to spontaneous sister chromatid exchange is characteristic for Bloom syndrome.
xref: UMLS:C4023604
is_a: HP:0003220 ! Abnormality of chromosome stability
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-10T06:14:16Z

[Term]
id: HP:0010999
name: Aplasia of the optic tract
synonym: "Absent optic tract" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023603
is_a: HP:0011000 ! Aplasia/Hypoplasia of the optic tract
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2011-02-13T11:28:03Z

[Term]
id: HP:0011000
name: Aplasia/Hypoplasia of the optic tract
synonym: "Absent/small optic tract" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Absent/underdeveloped optic tract" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023602
is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2011-02-13T11:28:43Z

[Term]
id: HP:0011001
name: Increased bone mineral density
alt_id: HP:0002796
alt_id: HP:0004350
alt_id: HP:0005711
alt_id: HP:0005741
alt_id: HP:0010738
def: "An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones." [https://orcid.org/0000-0002-0736-9199]
comment: This term may be merged with Increased bone density in the future or made obsolete.
synonym: "Increased bone density" EXACT layperson []
synonym: "Increased bone mineral density" EXACT layperson []
synonym: "Osteosclerosis" EXACT []
synonym: "Osteosclerosis of bones" EXACT []
xref: SNOMEDCT_US:49347007
xref: UMLS:C0029464
is_a: HP:0004348 ! Abnormality of bone mineral density
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2011-02-13T11:57:32Z

[Term]
id: HP:0011002
name: Osteopetrosis
def: "Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal." [https://orcid.org/0000-0002-0736-9199]
synonym: "Albers-Schoenberg disease" RELATED []
synonym: "Albers-Schonberg disease" RELATED []
synonym: "Albers-Schönberg disease" RELATED []
synonym: "Harder, denser, fracture-prone bones" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Marble bone disease" RELATED []
xref: SNOMEDCT_US:1926006
xref: SNOMEDCT_US:367489004
xref: UMLS:C0029454
is_a: HP:0011001 ! Increased bone mineral density
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2011-02-13T11:58:36Z

[Term]
id: HP:0011003
name: High myopia
alt_id: HP:0000569
def: "A severe form of myopia with greater than -6.00 diopters." [HPO_CONTRIBUTOR:DDD_ncarter]
subset: hposlim_core
synonym: "Severe myopia" EXACT []
synonym: "Severe myopia (> -6.00 diopters)" EXACT []
synonym: "Severe near sightedness" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Severely close sighted" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Severely near sighted" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:34187009
xref: UMLS:C0271183
is_a: HP:0000545 ! Myopia
property_value: terms:creator https://orcid.org/0009-0006-4530-3154
creation_date: 2011-02-13T12:56:48Z

[Term]
id: HP:0011004
name: Abnormal systemic arterial morphology
alt_id: HP:0002620
alt_id: HP:0005114
def: "An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal systemic artery morphology" EXACT []
synonym: "Abnormality of the systemic arterial tree" EXACT []
synonym: "Arterial abnormalities" RELATED []
synonym: "Systemic artery abnormality" EXACT []
xref: Fyler:2600
xref: SNOMEDCT_US:234119001
xref: UMLS:C0151489
xref: UMLS:C4021205
is_a: HP:0033353 ! Abnormal blood vessel morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-16T08:46:49Z

[Term]
id: HP:0011005
name: Mixed cirrhosis
def: "A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes." [https://orcid.org/0000-0002-0736-9199]
comment: In mixed cirrhosis, there are regenerating nodules under and over 3 mm in size.
xref: UMLS:C1392669
is_a: HP:0001394 ! Cirrhosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-17T09:01:14Z

[Term]
id: HP:0011006
name: Abnormal morphology of the musculature of the neck
def: "An abnormality of the neck musculature." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of cervical musculature" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the musculature of the neck" EXACT layperson []
synonym: "Neck muscle issue" EXACT layperson []
xref: UMLS:C4023601
is_a: HP:0011805 ! Abnormal skeletal muscle morphology
is_a: HP:0025668 ! Abnormal neck morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-19T11:15:01Z

[Term]
id: HP:0011008
name: Temporal pattern
def: "The speed at which disease manifestations appear and develop." [https://orcid.org/0000-0002-0736-9199]
synonym: "Speed of onset" EXACT []
xref: UMLS:C4021204
is_a: HP:0031797 ! Clinical course
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-20T10:22:32Z

[Term]
id: HP:0011009
name: Acute
def: "Sudden appearance of disease manifestations over a short period of time." [https://orcid.org/0000-0002-0736-9199]
comment: The word acute is applied to different time scales depending on the disease or manifestation and does not have an exact definition in minutes, hours, or days.
synonym: "Acute onset" EXACT []
xref: SNOMEDCT_US:272118002
xref: UMLS:C0205178
is_a: HP:0011008 ! Temporal pattern
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-20T10:23:18Z

[Term]
id: HP:0011010
name: Chronic
def: "Slow, creeping onset, slow progress and long continuance of disease manifestations." [https://orcid.org/0000-0002-0736-9199]
comment: According to the U.S. National Center for Health Statistics, a chronic condition is one lasting 3 months or more.
synonym: "Chronic" EXACT layperson []
xref: SNOMEDCT_US:90734009
xref: UMLS:C0205191
is_a: HP:0011008 ! Temporal pattern
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-20T10:25:55Z

[Term]
id: HP:0011011
name: Subacute
def: "Somewhat rapid onset and change of disease manifestations." [https://orcid.org/0000-0002-0736-9199]
comment: Subacute is between acute and chronic.
xref: SNOMEDCT_US:19939008
xref: UMLS:C0205365
is_a: HP:0011008 ! Temporal pattern
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-20T10:27:54Z

[Term]
id: HP:0011012
name: Abnormal circulating polysaccharide concentration
def: "A deviation from the normal concentration of a polysaccharide in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023600
is_a: HP:0011013 ! Abnormal circulating carbohydrate concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-21T09:46:11Z

[Term]
id: HP:0011013
name: Abnormal circulating carbohydrate concentration
alt_id: HP:0004366
def: "A deviation from the normal concentration of a carbohydrate in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
comment: An abnormality of the metabolism (include abnormality of the concentration) of a carbohydrate, including monosaccharides, oligosaccharides and polysaccharides, and substances derived from them.
xref: UMLS:C4023599
is_a: HP:0430071 ! Abnormal circulating organic compound concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-21T09:47:27Z

[Term]
id: HP:0011014
name: Abnormal glucose homeostasis
def: "Abnormality of glucose homeostasis." [https://orcid.org/0000-0002-0736-9199]
comment: An abnormality of any process involved in the maintenance of an internal steady state of glucose within an organism or cell.
xref: UMLS:C4023598
is_a: HP:0012337 ! Abnormal homeostasis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-21T10:37:21Z

[Term]
id: HP:0011015
name: Abnormal blood glucose concentration
def: "An abnormality of the concentration of glucose in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of blood glucose concentration" EXACT []
xref: UMLS:C4023597
is_a: HP:0011014 ! Abnormal glucose homeostasis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-21T10:41:13Z

[Term]
id: HP:0011016
name: obsolete Abnormality of urine glucose concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
is_obsolete: true
replaced_by: HP:0003076
creation_date: 2011-02-21T11:09:32Z

[Term]
id: HP:0011017
name: Abnormal cellular physiology
alt_id: HP:0025462
def: "An abnormality in a cellular process." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of cell physiology" EXACT []
xref: UMLS:C4023595
is_a: HP:0001939 ! Abnormality of metabolism/homeostasis
is_a: HP:0025354 ! Abnormal cellular phenotype
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-22T07:05:50Z

[Term]
id: HP:0011018
name: Abnormality of the cell cycle
def: "An abnormality of the cell cycle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the cell cycle" EXACT layperson []
xref: UMLS:C4023594
is_a: HP:0011017 ! Abnormal cellular physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-22T07:09:31Z

[Term]
id: HP:0011019
name: Abnormality of chromosome condensation
def: "An abnormality of chromosome condensation." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023593
is_a: HP:0011017 ! Abnormal cellular physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-22T07:19:30Z

[Term]
id: HP:0011020
name: Abnormality of mucopolysaccharide metabolism
def: "An abnormality of the metabolism of mucopolysaccharide." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023592
is_a: HP:0004371 ! Abnormality of glycosaminoglycan metabolism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-23T07:58:02Z

[Term]
id: HP:0011021
name: Abnormal circulating enzyme concentration
def: "The concentration or activity of an enzyme in the blood circulation is outside of the limits of the normal range." []
synonym: "Abnormality of circulating enzyme level" EXACT []
xref: UMLS:C4023591
is_a: HP:0010876 ! Abnormal circulating protein concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-28T08:46:34Z

[Term]
id: HP:0011022
name: Abnormal circulating unsaturated fatty acid concentration
def: "A deviation from the normal concentration of an unsaturated fatty acid in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023590
is_a: HP:0004359 ! Abnormal circulating fatty-acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-28T09:04:58Z

[Term]
id: HP:0011023
name: Abnormal circulating prostaglandin circulation
def: "Any deviation from the normal concentration of a prostaglandin in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023589
is_a: HP:0030361 ! Abnormal circulating eicosanoid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-02-28T09:19:20Z

[Term]
id: HP:0011024
name: Abnormality of the gastrointestinal tract
def: "An abnormality of the gastrointestinal tract." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the gastrointestinal tract" EXACT layperson []
synonym: "Abnormality of the GI tract" EXACT abbreviation []
synonym: "Digestive system disease" RELATED layperson []
synonym: "Gastrointestinal disease" RELATED layperson []
xref: SNOMEDCT_US:119292006
xref: SNOMEDCT_US:25374005
xref: SNOMEDCT_US:53619000
xref: UMLS:C0012242
xref: UMLS:C0017178
xref: UMLS:C4023588
is_a: HP:0025031 ! Abnormality of the digestive system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-01T07:52:06Z

[Term]
id: HP:0011025
name: Abnormal cardiovascular system physiology
def: "Abnormal functionality of the cardiovascular system." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of cardiovascular system physiology" EXACT []
xref: UMLS:C4023587
is_a: HP:0001626 ! Abnormality of the cardiovascular system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-03T10:23:19Z

[Term]
id: HP:0011026
name: Aplasia/Hypoplasia of the vagina
def: "Aplasia or developmental hypoplasia of the vagina." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small vagina" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped vagina" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023586
is_a: HP:0000142 ! Abnormal vagina morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-02T06:17:46Z

[Term]
id: HP:0011027
name: Abnormal fallopian tube morphology
def: "An abnormality of the fallopian tube." [https://orcid.org/0000-0002-0736-9199]
comment: The Fallopian tubes (also known as oviducts, uterine tubes, and salpinges) are ducts that lead from the ovaries into the uterus.
synonym: "Abnormality of the fallopian tube" EXACT []
xref: UMLS:C0281842
is_a: HP:0000008 ! Abnormal morphology of female internal genitalia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-02T06:36:01Z

[Term]
id: HP:0011028
name: Abnormality of blood circulation
def: "An abnormality of blood circulation." [https://orcid.org/0000-0002-0736-9199]
synonym: "Blood circulation disorder" RELATED []
xref: UMLS:C4020760
xref: UMLS:C4023585
is_a: HP:0011025 ! Abnormal cardiovascular system physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-03T10:25:21Z

[Term]
id: HP:0011029
name: Internal hemorrhage
def: "The presence of hemorrhage within the body." [https://orcid.org/0000-0002-0736-9199]
synonym: "Internal bleeding" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Internal haemorrhage" EXACT uk_spelling []
xref: UMLS:C1390214
is_a: HP:0001892 ! Abnormal bleeding
is_a: HP:0011028 ! Abnormality of blood circulation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-03T10:26:26Z

[Term]
id: HP:0011030
name: Abnormal blood transition element cation concentration
def: "An abnormality of the homeostasis (concentration) of transition element cation." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of transition element cation homeostasis" EXACT []
xref: UMLS:C4023584
is_a: HP:0010929 ! Abnormal blood cation concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-04T07:59:31Z

[Term]
id: HP:0011031
name: Abnormality of iron homeostasis
def: "An abnormality of the homeostasis (concentration) of iron cation." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023583
is_a: HP:0011030 ! Abnormal blood transition element cation concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-04T08:01:07Z

[Term]
id: HP:0011032
name: Abnormality of fluid regulation
def: "An abnormality of the regulation of body fluids." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of fluid regulation" EXACT layperson []
synonym: "Fluid imbalance" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:1860003
xref: SNOMEDCT_US:190902006
xref: UMLS:C2364164
is_a: HP:0012337 ! Abnormal homeostasis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-05T09:09:27Z

[Term]
id: HP:0011033
name: Impairment of fructose metabolism
def: "An impairment of a fructose metabolic process." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023581
is_a: HP:0032245 ! Abnormal metabolism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-05T10:06:29Z

[Term]
id: HP:0011034
name: Amyloidosis
def: "The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body." [https://orcid.org/0000-0002-0736-9199, PMID:21039326]
comment: The medical literautre on amyloidosis is confused with clinical and histochemical designations used when the amyloid disease processes were poorly understood. To be designated an amyloid fibril protein, the protein must occur in tissue deposits and exhibit affinity for Congo red and green birefringence when viewed by polarization microscopy.
synonym: "Amyloid disease" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:17602002
xref: UMLS:C0002726
is_a: HP:0001939 ! Abnormality of metabolism/homeostasis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-06T10:56:39Z

[Term]
id: HP:0011035
name: Abnormal renal cortex morphology
def: "An abnormality of the cortex of the kidney." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of renal cortex morphology" EXACT []
xref: UMLS:C4023580
is_a: HP:0012210 ! Abnormal renal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-06T11:31:39Z

[Term]
id: HP:0011036
name: Abnormality of renal excretion
def: "An altered ability of the kidneys to void urine and/or specific substances." [https://orcid.org/0000-0002-0736-9199]
xref: MP:0005555
xref: UMLS:C4023579
is_a: HP:0012211 ! Abnormal renal physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-06T12:28:55Z

[Term]
id: HP:0011037
name: Decreased urine output
def: "A decreased rate of urine production." [https://orcid.org/0000-0002-0736-9199]
comment: A reduction in the overall amount of urine output.
xref: UMLS:C3887784
is_a: HP:0012590 ! Abnormal urine output
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-06T12:33:12Z

[Term]
id: HP:0011038
name: Abnormal renal tubular resorption
def: "An abnormality of renal absorption." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal renal resorption" EXACT []
synonym: "Abnormality of renal resorption" EXACT []
xref: UMLS:C4023578
is_a: HP:0000124 ! Renal tubular dysfunction
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-06T12:38:04Z

[Term]
id: HP:0011039
name: Abnormal helix morphology
alt_id: HP:0000380
def: "An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormal helices" EXACT []
synonym: "Abnormality of the helix" EXACT []
synonym: "Helix abnormal" EXACT []
xref: UMLS:C1856660
is_a: HP:0000377 ! Abnormal pinna morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-06T04:41:34Z

[Term]
id: HP:0011040
name: Abnormal intrahepatic bile duct morphology
def: "An abnormality of the intrahepatic bile duct." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the intrahepatic bile duct" EXACT []
xref: UMLS:C4023577
is_a: HP:0012440 ! Abnormal biliary tract morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-07T07:54:11Z

[Term]
id: HP:0011041
name: Aplasia/Hypoplasia of the cervical spine
def: "Aplasia or developmental hypoplasia of the cervical vertebral column." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small cervical spine" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped cervical spine" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023576
is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column
is_a: HP:0046508 ! Abnormal cervical spine morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-09T08:29:34Z

[Term]
id: HP:0011042
name: Abnormal circulating potassium concentration
def: "An abnormal concentration of potassium." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal blood K concentration" EXACT abbreviation []
synonym: "Abnormal blood potassium concentration" EXACT []
synonym: "Abnormality of potassium homeostasis" EXACT []
xref: UMLS:C4023575
is_a: HP:0010930 ! Abnormal blood monovalent inorganic cation concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-09T11:00:32Z

[Term]
id: HP:0011043
name: Abnormal circulating adrenocorticotropin concentration
def: "An abnormal concentration of corticotropin in the blood." [https://orcid.org/0000-0002-0736-9199]
comment: Adrenocorticotropic hormone (ACTH), also known as corticotropin, is a polypeptide hormone produced and secreted by the pituitary gland comprising 39 amino acid residues coupled in a linear sequence. . It is a component of the hypothalamic-pituitary-adrenal axis and stimulates increased production and release of corticosteroids and cortisol from the adrenal cortex.
synonym: "Abnormality of circulating ACTH level" RELATED abbreviation []
synonym: "Abnormality of circulating adrenocorticotropic hormone level" RELATED []
synonym: "Abnormality of circulating adrenocorticotropin level" RELATED []
synonym: "Abnormality of circulating corticotropin level" EXACT []
xref: UMLS:C4023574
is_a: HP:0003117 ! Abnormal circulating hormone concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-10T07:46:59Z

[Term]
id: HP:0011044
name: Abnormal number of permanent teeth
def: "The presence of an altered number of of permanent teeth." [https://orcid.org/0000-0002-9338-3017]
synonym: "Abnormal complement of permanent teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormal number of adult teeth" EXACT layperson []
synonym: "Abnormal number of permanent teeth" EXACT layperson []
synonym: "Abnormal number of secondary dentition" EXACT []
synonym: "Abnormal permanent tooth count" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023573
is_a: HP:0006483 ! Abnormal number of teeth
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-10T10:43:37Z

[Term]
id: HP:0011045
name: Agenesis of permanent maxillary central incisor
def: "Agenesis of upper secondary incisor." [https://orcid.org/0000-0002-9338-3017]
comment: This feature is to be distinguished from single central upper incisor, which is median.
synonym: "Absence of permanent maxillary central incisor" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Absence of permanent upper central incisor" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Absence of permanent upper front tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Agenesis of adult maxillary central incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of permanent maxillary central incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing adult upper central incisor" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing permanent maxillary central incisor" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing permanent upper central incisor" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing permanent upper front tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023572
xref: UMLS:C4280358
xref: UMLS:C4280359
is_a: HP:0006293 ! Agenesis of maxillary central incisor
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-10T11:20:25Z

[Term]
id: HP:0011046
name: Agenesis of primary maxillary central incisor
def: "Agenesis of upper central primary incisor." [https://orcid.org/0000-0002-9338-3017]
comment: This feature is to be distinguished from single central upper incisor, which is median.
synonym: "Absence of deciduous maxillary central incisor" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Absence of primary maxillary central incisor" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Absence of upper front baby tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Agenesis of deciduous maxillary central incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of deciduous maxillary central incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of primary maxillary central incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing deciduous maxillary central incisor" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing primary maxillary central incisor" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing upper front baby tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing upper front milk tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023571
xref: UMLS:C4280357
is_a: HP:0006293 ! Agenesis of maxillary central incisor
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-10T11:21:41Z

[Term]
id: HP:0011047
name: Agenesis of primary mandibular central incisor
def: "Agenesis of lower primary incisor." [https://orcid.org/0000-0002-9338-3017]
synonym: "Absence of deciduous mandibular central incisor" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Absence of primary mandibular central incisor" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Agenesis of deciduous lower central incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Agenesis of primary lower central incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of deciduous mandibular central incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of primary mandibular central incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing deciduous mandibular central incisor" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing lower central incisor milk tooth" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing lower front baby tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing lower front milk tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing lower front primary tooth" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing primary mandibular central incisor" RELATED [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023570
xref: UMLS:C4280355
xref: UMLS:C4280356
is_a: HP:0006355 ! Agenesis of mandibular central incisor
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-10T11:14:55Z

[Term]
id: HP:0011048
name: Agenesis of permanent mandibular central incisor
def: "Agenesis of lower secondary incisor." [https://orcid.org/0000-0002-9338-3017]
synonym: "Absence of permanent lower central incisor" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Absence of permanent lower front tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Absence of permanent mandibular central incisor" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Agenesis of adult mandibular central incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of permanent mandibular central incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing adult lower central incisor" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing permanent lower central incisor" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing permanent lower front tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing permanent mandibular central incisor" RELATED [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023569
xref: UMLS:C4280354
is_a: HP:0006355 ! Agenesis of mandibular central incisor
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-10T11:16:08Z

[Term]
id: HP:0011049
name: Agenesis of primary maxillary lateral incisor
def: "Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor." [https://orcid.org/0000-0002-9338-3017]
synonym: "Absence of deciduous maxillary lateral incisor" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Absence of primary maxillary lateral incisor" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Agenesis of deciduous maxillary lateral incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of deciduous maxillary lateral incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of primary maxillary lateral incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing deciduous maxillary lateral incisor" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing primary maxillary lateral incisor" RELATED [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023568
xref: UMLS:C4280353
is_a: HP:0000690 ! Agenesis of maxillary lateral incisor
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-10T11:31:10Z

[Term]
id: HP:0011050
name: Agenesis of permanent maxillary lateral incisor
def: "Agenesis of one or more upper lateral secondary incisor." [https://orcid.org/0000-0002-9338-3017]
synonym: "Absence of permanent maxillary lateral incisor" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Agenesis of permanent upper lateral incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of permanent maxillary lateral incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of permanent upper lateral incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing permanent maxillary lateral incisor" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing permanent upper lateral incisor" RELATED [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023567
xref: UMLS:C4280352
is_a: HP:0000690 ! Agenesis of maxillary lateral incisor
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-10T11:32:17Z

[Term]
id: HP:0011051
name: Agenesis of premolar
def: "Agenesis of premolar tooth." [https://orcid.org/0000-0002-9338-3017]
comment: Note that premolar teeth occur only in the permanent dentition.
synonym: "Absence of bicuspid" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Absence of premolar" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Agenesis of bicuspid" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of bicuspid" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of premolar" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing bicuspid" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing premolar" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023566
xref: UMLS:C4280351
is_a: HP:0001592 ! Selective tooth agenesis
is_a: HP:0011076 ! Abnormality of premolar
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-10T11:36:44Z

[Term]
id: HP:0011052
name: Agenesis of maxillary premolar
def: "Agenesis of maxillary premolar." [https://orcid.org/0000-0002-9338-3017]
comment: Note that premolar teeth occur only in the permanent dentition.
synonym: "Absence of maxillary bicuspid" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Absence of maxillary premolar" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Absence of upper premolar" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Agenesis of maxillary bicuspid" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of maxillary bicuspid" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of maxillary premolar" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing maxillary premolar" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing upper bicuspid" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing upper premolar" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023565
xref: UMLS:C4280350
is_a: HP:0011051 ! Agenesis of premolar
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-10T11:39:06Z

[Term]
id: HP:0011053
name: Agenesis of mandibular premolar
def: "Agenesis of mandibular premolar." [https://orcid.org/0000-0002-9338-3017]
synonym: "Absence of lower premolar" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Absence of mandibular premolar" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of mandibular premolar" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing lower premolar" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing mandibular premolar" RELATED [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023564
xref: UMLS:C4280349
is_a: HP:0011051 ! Agenesis of premolar
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-10T11:40:37Z

[Term]
id: HP:0011054
name: Agenesis of molar
def: "Agenesis of molar tooth." [https://orcid.org/0000-0002-9338-3017]
synonym: "Absence of molar" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Absent molars" EXACT layperson []
synonym: "Failure of development of molar" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing molar" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4021203
xref: UMLS:C4280348
is_a: HP:0001592 ! Selective tooth agenesis
is_a: HP:0011077 ! Abnormality of molar
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-10T11:41:46Z

[Term]
id: HP:0011055
name: Agenesis of permanent molar
def: "Agenesis of secondary molar tooth." [https://orcid.org/0000-0002-9338-3017]
synonym: "Absence of adult molar" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Absence of permanent molar" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Agenesis of secondary molar" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of permanent molar" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of secondary molar" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing adult molar" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing permanent molar" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023563
xref: UMLS:C4280347
is_a: HP:0011054 ! Agenesis of molar
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-10T11:44:27Z

[Term]
id: HP:0011056
name: Agenesis of first permanent molar tooth
def: "Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both." [https://orcid.org/0000-0002-9338-3017]
synonym: "Absence of first permanent molar" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Absence of six year molar" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Agenesis of six year molar" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of first permanent molar" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of six year molar" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing first permanent molar" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing six year molar" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023562
xref: UMLS:C4280346
is_a: HP:0011055 ! Agenesis of permanent molar
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-10T11:45:27Z

[Term]
id: HP:0011057
name: Agenesis of second permanent molar
def: "Agenesis of either mandibular second permanent molar or maxillary second permanent molar." [https://orcid.org/0000-0002-9338-3017]
synonym: "Absence of second permanent molar" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Absence of twelve year molar" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Agenesis of twelve year molar" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of second permanent molar" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of twelve year molar" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing second permanent molar" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing twelve year molar" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023561
xref: UMLS:C4280257
is_a: HP:0011055 ! Agenesis of permanent molar
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-10T11:47:58Z

[Term]
id: HP:0011058
name: Generalized periodontitis
def: "A generalized form of periodontitis." [https://orcid.org/0000-0002-9338-3017]
synonym: "Generalised gum disease" BROAD uk_spelling []
synonym: "Generalised periodontal disease" EXACT uk_spelling []
synonym: "Generalised periodontitis" EXACT uk_spelling []
synonym: "Generalized gum disease" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Generalized periodontal disease" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Widespread gum disease" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023560
xref: UMLS:C4280345
is_a: HP:0000704 ! Periodontitis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-10T12:23:22Z

[Term]
id: HP:0011059
name: Localized periodontitis
def: "A localized form of periodontitis." [https://orcid.org/0000-0002-9338-3017]
synonym: "Limited area of gum disease" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Localised gum disease" BROAD uk_spelling []
synonym: "Localised periodontal disease" EXACT uk_spelling []
synonym: "Localised periodontitis" EXACT uk_spelling []
synonym: "Localized gum disease" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Localized periodontal disease" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023559
xref: UMLS:C4280344
is_a: HP:0000704 ! Periodontitis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-10T12:26:35Z

[Term]
id: HP:0011060
name: Dentinogenesis imperfecta limited to primary teeth
def: "Developmental dysplasia of dentin affecting only the primary dentition." [https://orcid.org/0000-0002-9338-3017]
synonym: "Dentinogenesis imperfecta of baby teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:109492001
xref: UMLS:C0011430
xref: UMLS:C4023558
is_a: HP:0000703 ! Dentinogenesis imperfecta
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-11T12:26:32Z

[Term]
id: HP:0011061
name: Abnormality of dental structure
def: "An abnormality of the structure or composition of the teeth." [https://orcid.org/0000-0002-9338-3017]
synonym: "Abnormality of tooth part" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of tooth structure" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023557
is_a: HP:0000164 ! Abnormality of the dentition
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-10T01:44:04Z

[Term]
id: HP:0011062
name: Misalignment of incisors
def: "Misaligned incisor." [https://orcid.org/0000-0002-9338-3017]
synonym: "Abnormality of alignment of incisors" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of position of incisors" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Crooked front teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Crooked incisors" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malposition of incisors" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Misalignment of incisors" EXACT layperson []
xref: UMLS:C4023556
xref: UMLS:C4280343
is_a: HP:0000676 ! Abnormality of the incisor
is_a: HP:0000692 ! Tooth malposition
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-10T01:57:43Z

[Term]
id: HP:0011063
name: Abnormal incisor morphology
def: "An abnormality of morphology of the incisor tooth." [https://orcid.org/0000-0002-9338-3017]
synonym: "Abnormality of incisor morphology" EXACT []
synonym: "Abnormality of shape of incisor" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023555
is_a: HP:0000676 ! Abnormality of the incisor
is_a: HP:0006482 ! Abnormal dental morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-10T02:06:54Z

[Term]
id: HP:0011064
name: Abnormal number of incisors
def: "The presence of an altered number of the incisor teeth." [https://orcid.org/0000-0002-9338-3017]
synonym: "Abnormal number of front teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormal number of incisors" EXACT layperson []
xref: UMLS:C4023554
is_a: HP:0000676 ! Abnormality of the incisor
is_a: HP:0006483 ! Abnormal number of teeth
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-10T02:09:16Z

[Term]
id: HP:0011065
name: Conical incisor
alt_id: HP:0000673
alt_id: HP:0006345
alt_id: HP:0011066
def: "An abnormal conical morphology of the incisor tooth." [https://orcid.org/0000-0002-9338-3017]
comment: Conical incisors are incisors that are round in cross-sectional views of the crown or that have a rounded appearance. Conical incisors may have a pointed shape that tapers to a point at the tip of the tooth. One speaks of conical incisor for a conical shaped tooth that is located in the region where incisors normally are.
synonym: "Cone shaped front tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Conoid incisor" EXACT []
synonym: "Peg shaped front tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Peg shaped incisors" EXACT []
synonym: "Peg-shaped incisors" EXACT []
synonym: "Peg-shaped tooth" EXACT []
synonym: "Pointed front tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Pointed incisor" RELATED []
synonym: "Shark tooth incisor" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1856136
xref: UMLS:C4020759
xref: UMLS:C4280341
xref: UMLS:C4280342
is_a: HP:0000698 ! Conical tooth
is_a: HP:0011063 ! Abnormal incisor morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-10T02:14:34Z

[Term]
id: HP:0011067
name: Mesiodens
def: "A supernumerary tooth in the midline between the maxillary central incisors." [https://orcid.org/0000-0002-9338-3017, PMID:18262485, PMID:31468724]
comment: A mesiodens is not a supernumerary incisor (i.e., it does not have the morphology of an incisor). Rather, it is a conoid, extra tooth located between the maxillary central incisors. Mesiodens is the most common supernumerary tooth. Typically, they are small. They are usually conical in shape but may have heterogeneous forms. Mesiodens may remain unerupted and cause failure of a permanent incisor to erupt. Mesiodens may develop in an inverted position.
synonym: "Extra tooth" BROAD layperson []
synonym: "Extra tooth in the midline" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Median supernumary tooth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Mesiodentes" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Midline supernumary tooth" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:17802000
xref: SNOMEDCT_US:266414008
xref: SNOMEDCT_US:367534004
xref: SNOMEDCT_US:8666004
xref: UMLS:C0040457
xref: UMLS:C0266030
xref: UMLS:C4280340
is_a: HP:0011069 ! Supernumerary tooth
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-10T02:38:59Z

[Term]
id: HP:0011068
name: Odontoma
def: "The presence of an odontoma." [https://orcid.org/0000-0002-9338-3017]
comment: MPATH defines odontoma as a hamartomatous malformation of odontogenic tissue. It may vary from nondescript masses of dental tissue (complex odontoma) to multiple well-formed teeth (compound odontoma).
synonym: "Odontomas" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:79074005
xref: UMLS:C0028882
is_a: HP:0010566 ! Hamartoma
is_a: HP:0100612 ! Odontogenic neoplasm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-10T02:40:52Z

[Term]
id: HP:0011069
name: Supernumerary tooth
alt_id: HP:0000672
def: "The presence of one or more teeth additional to the normal number." [https://orcid.org/0000-0002-9338-3017, PMID:31468724]
comment: Age-related physiological sequential eruption should be taken into account during evaluation. The type and the location of the additional tooth/teeth should be added to the description. Supernumerary teeth are uncommon (in 0.21% of deciduous dentitions and in 0.9% of permanent dentitions), and often abnormal positioning of a normal number of teeth is wrongly classified as supernumerary teeth. Supernumerary teeth are most frequent in the upper maxilla, and typically, a single additional tooth is present. We discourage the use of distodens, distomolars (an extra fourth molar posterior to the third molar), paramolars (supernumerary tooth in the molar region) but rather to mention the presence of the supernumerary tooth mesial to or distal to a tooth from the normal series. Diagnosing a supernumerary tooth may require radiographic examination. A supernumerary tooth present between the maxillary central incisors is called mesiodens.
subset: hposlim_core
synonym: "Extra teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Hyperdontia" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased number of teeth" EXACT layperson []
synonym: "Increased tooth count" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "More teeth than normal" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Supernumary dentition" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Supernumary teeth" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Supernumerary teeth" EXACT []
synonym: "Supplemental dentition" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Supplemental teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Tooth, supernumerary" EXACT []
xref: SNOMEDCT_US:266414008
xref: SNOMEDCT_US:367534004
xref: SNOMEDCT_US:8666004
xref: UMLS:C0040457
is_a: HP:0006483 ! Abnormal number of teeth
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-10T02:52:19Z

[Term]
id: HP:0011070
name: Abnormal molar morphology
def: "An abnormality of morphology of molar tooth." [https://orcid.org/0000-0002-9338-3017]
synonym: "Abnormal shape of molar tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of molar morphology" EXACT []
xref: UMLS:C4023553
is_a: HP:0006482 ! Abnormal dental morphology
is_a: HP:0011077 ! Abnormality of molar
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-10T03:45:51Z

[Term]
id: HP:0011071
name: Abnormal permanent molar morphology
def: "An abnormality of morphology of permanent molar." [https://orcid.org/0000-0002-9338-3017]
synonym: "Abnormality of permanent molar morphology" EXACT []
synonym: "Abnormality of shape of adult molar" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of shape of permanent molar" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023552
is_a: HP:0011070 ! Abnormal molar morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-10T03:48:43Z

[Term]
id: HP:0011072
name: Rootless teeth
synonym: "Absence of tooth root" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Agenesis of tooth root" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Aplasia of tooth root" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing tooth root" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Rootless teeth" EXACT layperson []
synonym: "Teeth without roots" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Tooth with dentin dysplasia type i" RELATED [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:109493006
xref: UMLS:C0399379
xref: UMLS:C4082200
is_a: HP:0006486 ! Abnormal dental root morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-10T03:56:41Z

[Term]
id: HP:0011073
name: Abnormality of dental color
def: "A developmental defect of tooth color." [https://orcid.org/0000-0002-9338-3017]
synonym: "Abnormality of dental color" EXACT layperson []
synonym: "Abnormality of dental colour" EXACT uk_spelling []
synonym: "Abnormality of dental shade" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of tooth color" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of tooth colour" EXACT uk_spelling []
synonym: "Abnormality of tooth shade" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023551
is_a: HP:0011061 ! Abnormality of dental structure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-10T05:20:03Z

[Term]
id: HP:0011074
name: Localized hypoplasia of dental enamel
def: "A localized form of developmental hypoplasia of the dental enamel." [https://orcid.org/0000-0002-9338-3017]
synonym: "Localised dysplasia of tooth enamel" RELATED uk_spelling []
synonym: "Localised hypoplasia of dental enamel" EXACT uk_spelling []
synonym: "Localised hypoplasia of tooth enamel" EXACT uk_spelling []
synonym: "Localized dysplasia of tooth enamel" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Localized hypoplasia of tooth enamel" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023550
xref: UMLS:C4280339
is_a: HP:0006297 ! Enamel hypoplasia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-10T05:13:09Z

[Term]
id: HP:0011075
name: Green teeth
def: "A green staining of teeth." [PMID:12686928]
comment: Green teeth are a rare finding in children with neonatal hyperbilirubinaemia due to blood group incompatibility, sepsis-induced cholestasis or biliary atresia. Rarely, green staining of the teeth may be seen with cholestasis and sepsis.
synonym: "Green colored teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Green coloured teeth" EXACT uk_spelling []
synonym: "Green teeth" EXACT layperson []
synonym: "Green tooth shade" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023549
is_a: HP:0011073 ! Abnormality of dental color
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-10T05:23:18Z

[Term]
id: HP:0011076
name: Abnormality of premolar
def: "An abnormality of premolar tooth." [https://orcid.org/0000-0002-9338-3017]
synonym: "Abnormality of bicuspid" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of premolar" EXACT layperson []
xref: UMLS:C4023548
is_a: HP:0000164 ! Abnormality of the dentition
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-11T09:56:17Z

[Term]
id: HP:0011077
name: Abnormality of molar
def: "An abnormality of molar tooth." [https://orcid.org/0000-0002-9338-3017]
synonym: "Abnormality of molar" EXACT layperson []
xref: UMLS:C4023547
is_a: HP:0000164 ! Abnormality of the dentition
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-11T09:57:49Z

[Term]
id: HP:0011078
name: Abnormality of canine
def: "An abnormality of canine tooth." [https://orcid.org/0000-0002-9338-3017]
synonym: "Abnormality of canine" EXACT layperson []
synonym: "Abnormality of eye tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023546
is_a: HP:0000164 ! Abnormality of the dentition
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-11T09:58:41Z

[Term]
id: HP:0011079
name: Impacted tooth
def: "A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth)." [https://orcid.org/0000-0002-9338-3017]
subset: hposlim_core
synonym: "Buried tooth" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Impacted tooth" EXACT layperson []
synonym: "Retained tooth" EXACT []
xref: SNOMEDCT_US:129263008
xref: SNOMEDCT_US:235104008
xref: UMLS:C0040456
xref: UMLS:C4280338
is_a: HP:0000706 ! Eruption failure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-11T10:18:55Z

[Term]
id: HP:0011080
name: Abnormal premolar morphology
def: "An abnormality of morphology of premolar tooth." [https://orcid.org/0000-0002-9338-3017]
synonym: "Abnormality of bicuspid morphology" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of premolar morphology" EXACT []
synonym: "Abnormality of shape of bicuspid" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of shape of premolar" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023545
is_a: HP:0006482 ! Abnormal dental morphology
is_a: HP:0011076 ! Abnormality of premolar
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-11T10:33:42Z

[Term]
id: HP:0011081
name: Incisor macrodontia
def: "Increased size of the incisor tooth." [https://orcid.org/0000-0002-9338-3017]
synonym: "Hyperplasia of incisor" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypertrophy of incisor" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased size of incisor" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased width of incisor" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Large incisor" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023544
xref: UMLS:C4280337
is_a: HP:0001572 ! Macrodontia
is_a: HP:0011063 ! Abnormal incisor morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-11T10:39:44Z

[Term]
id: HP:0011082
name: Conical primary incisor
def: "An abnormal conical morphology of the primary incisor." [https://orcid.org/0000-0002-9338-3017]
synonym: "Cone shaped front baby tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Conical deciduous incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Conoid primary incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Peg shaped front baby tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Peg shaped primary incisor" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Pointed front baby tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Pointed primary incisor" RELATED layperson []
synonym: "Primary front shark tooth" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023543
is_a: HP:0011065 ! Conical incisor
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-11T11:06:57Z

[Term]
id: HP:0011083
name: Conical maxillary incisor
def: "An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both." [https://orcid.org/0000-0002-9338-3017]
synonym: "Cone shaped maxillary incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Cone shaped upper front tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Conoid maxillary incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Peg shaped upper front tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Pointed maxillary incisor" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Pointed upper front tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Upper front shark tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023542
is_a: HP:0011065 ! Conical incisor
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-11T11:36:11Z

[Term]
id: HP:0011084
name: Hypocalcification of dental enamel
def: "A form of hypomineralization of enamel characterized by reduced calcification." [PMID:18499550]
synonym: "Decreased enamel calcification" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Poorly calcified tooth enamel" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023541
is_a: HP:0006285 ! Enamel hypomineralization
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-11T12:08:46Z

[Term]
id: HP:0011085
name: Hypomature dental enamel
def: "A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color." [https://orcid.org/0000-0002-9338-3017]
comment: Radiographically there is normal thickness of enamel and the enamel is slightly more radiolucent than dentin.
synonym: "Immature tooth enamel" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Soft teeth" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Soft tooth enamel" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023540
xref: UMLS:C4280266
xref: UMLS:C4280336
is_a: HP:0006285 ! Enamel hypomineralization
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-11T12:10:33Z

[Term]
id: HP:0011086
name: Dentinogenesis imperfecta of primary and permanent teeth
def: "Developmental dysplasia of dentin or both the primary dentition and the permanent dentition." [https://orcid.org/0000-0002-9338-3017]
synonym: "Dentinogenesis imperfecta of adult and baby teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Dentinogenesis imperfecta of both sets of teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023539
is_a: HP:0000703 ! Dentinogenesis imperfecta
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-11T12:28:37Z

[Term]
id: HP:0011087
name: Talon cusp
def: "Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown)." [https://orcid.org/0000-0002-9338-3017]
subset: hposlim_core
synonym: "Dens evaginatus" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Extra cusp on inside of front tooth" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Talon cusps" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:234955005
xref: SNOMEDCT_US:63691004
xref: UMLS:C0266034
xref: UMLS:C0399357
xref: UMLS:C4280335
is_a: HP:0033777 ! Supernumerary cusp
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-11T02:00:28Z

[Term]
id: HP:0011088
name: Dens in dente
def: "An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth." [https://orcid.org/0000-0002-9338-3017, PMID:31468724]
comment: Dens in dente is Latin for tooth inside of tooth. Dens in dente results from an invagination of the enamel organ into the dental papilla, extending into the root before initiation of mineralization. The permanent maxillary lateral incisors are the most frequently involved teeth, but it can occur in any tooth type. It occurs more frequently in the permanent dentition and in maxillary teeth. The diagnosis dens in dente needs to be confirmed by X-rays.
synonym: "Dens invaginatus" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Tooth within a tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:55197001
xref: UMLS:C0011320
is_a: HP:0011063 ! Abnormal incisor morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-11T02:07:28Z

[Term]
id: HP:0011089
name: Double tooth
def: "Fusion of two adjacent teeth." [https://orcid.org/0000-0002-9338-3017, PMID:31468724]
comment: The fusion can be complete or be limited to the crown or the root. Typically, incisors and canines form double teeth. Double teeth are more common in the deciduous dentition and rare in the permanent dentition. Double teeth encompasses fusion, concrescence, and gemination of teeth, which some authors describe with the twinning.
synonym: "Conjoined teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Double tooth" EXACT layperson []
synonym: "Teeth, double" EXACT []
synonym: "Twinning tooth" EXACT []
xref: SNOMEDCT_US:1744008
xref: UMLS:C0016873
is_a: HP:0006482 ! Abnormal dental morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-11T02:13:26Z

[Term]
id: HP:0011090
name: Fused teeth
def: "The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch." [PMID:18167487]
subset: hposlim_core
synonym: "Fused teeth" EXACT layperson []
synonym: "Fusion of teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Joined teeth" EXACT layperson []
xref: SNOMEDCT_US:1744008
xref: UMLS:C0016873
is_a: HP:0011089 ! Double tooth
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-11T02:17:04Z

[Term]
id: HP:0011091
name: Gemination
def: "The development of two teeth from a single tooth bud, leading to a larger fused tooth." [PMID:18167487]
comment: If the fused tooth is counted singly, then the total number of teeth is normal with gemination. Usually, there is a larger dental crown with a single root and single canal.
synonym: "Gemination of tooth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Splitting of crown of tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:40273006
xref: UMLS:C0266033
is_a: HP:0011089 ! Double tooth
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-11T02:19:11Z

[Term]
id: HP:0011092
name: Mulberry molar
def: "Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry." []
synonym: "Syphilitic permanent first molar" NARROW [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:109436001
xref: UMLS:C0266024
is_a: HP:0011070 ! Abnormal molar morphology
is_a: HP:0033777 ! Supernumerary cusp
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-11T02:25:56Z

[Term]
id: HP:0011093
name: Molarization of premolar
def: "Increased size and molar morphology of premolar tooth." [https://orcid.org/0000-0002-9338-3017, PMID:15587104]
synonym: "Enlarged premolar" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased size of premolar" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Molar shape of bicuspid" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Molar shape of premolar" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Molarization of bicuspid" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1404304
xref: UMLS:C4280334
is_a: HP:0011080 ! Abnormal premolar morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-11T02:32:39Z

[Term]
id: HP:0011094
name: Increased overbite
def: "Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm." [https://orcid.org/0000-0002-9338-3017, PMID:31468724]
synonym: "Deep bite" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deep overbite" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased overlap of upper and lower incisors" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Overbite" EXACT layperson []
synonym: "Scissors bite" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Supraocclusion" EXACT []
xref: SNOMEDCT_US:10816007
xref: SNOMEDCT_US:251293001
xref: SNOMEDCT_US:60476005
xref: SNOMEDCT_US:63783001
xref: UMLS:C0266063
xref: UMLS:C0266067
xref: UMLS:C1305740
is_a: HP:0000692 ! Tooth malposition
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-11T05:13:34Z

[Term]
id: HP:0011095
name: Overjet
def: "An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure." [https://orcid.org/0000-0002-9338-3017]
synonym: "Abnormality of horizontal incisor relationship" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Buck teeth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Protrusion of the maxillary incisors" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Protrusion of upper teeth in front of lower teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Upper teeth sticking out forward" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:251292006
xref: SNOMEDCT_US:70305005
xref: UMLS:C0596028
is_a: HP:0000692 ! Tooth malposition
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-11T05:15:43Z

[Term]
id: HP:0011096
name: Peripheral demyelination
alt_id: HP:0003381
alt_id: HP:0006939
alt_id: HP:0007282
def: "A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system." [https://orcid.org/0000-0002-0736-9199]
comment: This feature is generally diagnosed on the basis of a sural nerve biopsy. Demyelination is associated with slowed nerve conduction, increased refractoriness, and conduction block.
synonym: "Demyelination" EXACT []
xref: UMLS:C0878575
is_a: HP:0003130 ! Abnormal peripheral myelination
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-03-28T09:01:02Z

[Term]
id: HP:0011097
name: Epileptic spasm
def: "A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages" [HPO_CONTRIBUTOR:jalbers, PMID:28276060]
comment: The maximum age of onset is between 3 and 12 months, the peak being at 6 months. However, spasms may start from birth, or appear long after the age of 12 months, including into adulthood. Infantile spasms represent a specific type of seizure seen in an epilepsy syndrome of infancy and childhood known as West Syndrome. West Syndrome is characterized by infantile spasms, developmental regression, and hypsarrhythmia (as demonstrated by electroencephalography).
synonym: "Epileptic spasms" EXACT plural_form []
synonym: "Salaam convulsion" EXACT []
synonym: "Salaam convulsions" EXACT plural_form []
synonym: "Salaam seizure" EXACT []
synonym: "Salaam seizures" EXACT plural_form []
synonym: "West syndrome" RELATED []
xref: SNOMEDCT_US:28055006
xref: UMLS:C0037769
xref: UMLS:C1527366
is_a: HP:0020219 ! Motor seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-05-04T01:56:31Z

[Term]
id: HP:0011098
name: Speech apraxia
def: "A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur." [https://orcid.org/0000-0002-0736-9199]
comment: Speech apraxia may co-occur with oral apraxia and limb apraxia.
synonym: "Apraxia of speech" EXACT []
synonym: "Speech dyspraxia" RELATED []
synonym: "Verbal dyspraxia" EXACT []
xref: SNOMEDCT_US:361276003
xref: SNOMEDCT_US:361277007
xref: SNOMEDCT_US:74227009
xref: UMLS:C0264611
xref: UMLS:C0349391
is_a: HP:0002186 ! Apraxia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-05-15T08:57:11Z

[Term]
id: HP:0011099
name: Spastic hemiparesis
def: "Unilateral paresis (weakness) with spasticity of the affected muscles and increased tendon reflexes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Spastic hemiplegia" EXACT []
xref: SNOMEDCT_US:79633009
xref: UMLS:C0154694
is_a: HP:0001269 ! Hemiparesis
is_a: HP:0034353 ! Appendicular spasticity
is_a: HP:0100021 ! Cerebral palsy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-04T09:10:40Z

[Term]
id: HP:0011100
name: Intestinal atresia
def: "An abnormal closure, or atresia of the tubular structure of the intestine." [https://orcid.org/0000-0002-0736-9199]
comment: Intestinal atresia is a broad term used to describe a complete blockage or obstruction anywhere in the intestine, in contrast to stenosis, which refers to a partial obstruction that results in a narrowing of the intestinal lumen.
xref: UMLS:C0021828
is_a: HP:0002242 ! Abnormal intestine morphology
is_a: HP:0002589 ! Gastrointestinal atresia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-04T09:16:25Z

[Term]
id: HP:0011102
name: Ileal atresia
def: "An abnormal closure, or atresia of the tubular structure of the ileum." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:25896009
xref: UMLS:C0266176
is_a: HP:0001549 ! Abnormal ileum morphology
is_a: HP:0011100 ! Intestinal atresia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-04T09:22:34Z

[Term]
id: HP:0011103
name: Abnormal left ventricular outflow tract morphology
def: "An abnormality of the outflow tract of the left ventricle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the left ventricular outflow tract" EXACT []
xref: SNOMEDCT_US:253545000
xref: UMLS:C0344916
is_a: HP:0001711 ! Abnormal left ventricle morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-05T04:15:50Z

[Term]
id: HP:0011104
name: Abnormality of blood volume homeostasis
def: "An abnormality in the amount of volume occupied by intravascular blood." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023537
is_a: HP:0011028 ! Abnormality of blood circulation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-07T11:16:33Z

[Term]
id: HP:0011105
name: Hypervolemia
def: "An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fluid overload in blood" EXACT layperson [https://en.wikipedia.org/wiki/hypervolemia, https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:21639008
xref: UMLS:C0546817
is_a: HP:0011104 ! Abnormality of blood volume homeostasis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-07T11:17:32Z

[Term]
id: HP:0011106
name: Hypovolemia
def: "An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Depleted blood volume" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:28560003
xref: UMLS:C0546884
is_a: HP:0011104 ! Abnormality of blood volume homeostasis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-07T11:18:54Z

[Term]
id: HP:0011107
name: Recurrent aphthous stomatitis
def: "Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border." [https://orcid.org/0000-0002-0736-9199]
comment: Recurrent aphthous stomatitis can be classified into three forms, with minor ulcers (over 80% of RAS cases) being less than 1 cm in diameter and self-limiting; major ulcers being over 1 cm in diameter with potential scar formation; and herpetiform ulcers manifesting as recurrent episodes with multiple small ulcers throughout the oral mucosa.
synonym: "Aphthous stomatitis" RELATED []
synonym: "Buccal aphthous ulcers" RELATED []
synonym: "Recurrent aphthous ulcers" RELATED []
synonym: "Recurrent canker sores" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Recurrent oral aphthae" EXACT []
xref: SNOMEDCT_US:110426005
xref: SNOMEDCT_US:398870000
xref: SNOMEDCT_US:426965005
xref: SNOMEDCT_US:427617000
xref: UMLS:C0038363
xref: UMLS:C2937365
is_a: HP:0010280 ! Stomatitis
is_a: HP:0031446 ! Erosion of oral mucosa
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-08T07:11:09Z

[Term]
id: HP:0011108
name: Recurrent sinusitis
def: "A recurrent form of sinusitis." [https://orcid.org/0000-0002-0736-9199]
comment: Recurring inflammation of the paranasal sinuses.
synonym: "Recurrent sinus disease" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Recurrent sinus infections" EXACT []
synonym: "Sinusitis, recurrent" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:195788001
xref: UMLS:C0581354
xref: UMLS:C4280333
is_a: HP:0000246 ! Sinusitis
is_a: HP:0002788 ! Recurrent upper respiratory tract infections
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-10T07:31:22Z

[Term]
id: HP:0011109
name: Chronic sinusitis
def: "A chronic form of sinusitis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Chronic sinus disease" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Sinusitis, chronic" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:40055000
xref: UMLS:C0149516
xref: UMLS:C0748720
is_a: HP:0000246 ! Sinusitis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-10T07:33:14Z

[Term]
id: HP:0011110
name: Recurrent tonsillitis
def: "Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis." [https://orcid.org/0000-0002-0736-9199, PMID:15897415]
synonym: "Recurrent inflammation of tonsils" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:90176007
xref: UMLS:C0040425
is_a: HP:0002719 ! Recurrent infections
is_a: HP:0100765 ! Abnormality of the tonsils
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-10T07:46:38Z

[Term]
id: HP:0011111
name: Abnormal immune serum protein physiology
def: "An abnormality of the concentration or function of circulating immune proteins." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of immune serum protein physiology" EXACT []
xref: UMLS:C4023536
is_a: HP:0010978 ! Abnormality of immune system physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-12T08:58:47Z

[Term]
id: HP:0011112
name: Abnormal circulating cytokine concentration
def: "Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of serum cytokine level" EXACT []
xref: MP:0010210
xref: UMLS:C4023535
is_a: HP:0011111 ! Abnormal immune serum protein physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-12T09:03:40Z

[Term]
id: HP:0011113
name: Abnormality of cytokine secretion
def: "An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells)." [https://orcid.org/0000-0002-0736-9199]
xref: MP:0003009
xref: UMLS:C4023534
is_a: HP:0011111 ! Abnormal immune serum protein physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-12T09:07:24Z

[Term]
id: HP:0011114
name: Defective production of NFKB1-dependent cytokines
def: "An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023533
is_a: HP:0011113 ! Abnormality of cytokine secretion
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-12T09:12:15Z

[Term]
id: HP:0011115
name: Abnormal circulating chemokine concentration
def: "An abnormality in the production or cellular release of a chemokine (a class of cytokines)." []
synonym: "Abnormality of chemokine secretion" EXACT []
xref: UMLS:C4023532
is_a: HP:0011112 ! Abnormal circulating cytokine concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-12T09:14:25Z

[Term]
id: HP:0011116
name: Abnormal circulating interferon concentration
alt_id: HP:0030354
def: "The concentration of an interferon is outside the limits of normal." []
synonym: "Abnormal serum interferon level" EXACT []
synonym: "Abnormality of interferon secretion" EXACT []
xref: UMLS:C4023531
is_a: HP:0011112 ! Abnormal circulating cytokine concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-12T09:14:43Z

[Term]
id: HP:0011117
name: Abnormal circulating interleukin concentration
alt_id: HP:0030782
def: "The concentration of an interleukin (a class of cytokines) is outside the limits of normal." [PMID:28487810]
synonym: "Abnormal serum IL level" EXACT abbreviation []
synonym: "Abnormal serum interleukin level" EXACT []
synonym: "Abnormality of IL secretion" EXACT abbreviation []
synonym: "Abnormality of interleukin secretion" EXACT []
xref: UMLS:C4023530
is_a: HP:0011112 ! Abnormal circulating cytokine concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-12T09:16:10Z

[Term]
id: HP:0011118
name: Abnormality of tumor necrosis factor secretion
def: "An abnormality in the production or cellular release of tumor necrosis factor." []
synonym: "Abnormality of cachectin secretion" EXACT [https://en.wikipedia.org/wiki/tumor_necrosis_factor_alpha, https://orcid.org/0000-0001-6908-9849]
synonym: "Abnormality of cachexin secretion" EXACT [https://en.wikipedia.org/wiki/tumor_necrosis_factor_alpha, https://orcid.org/0000-0001-6908-9849]
synonym: "Abnormality of tumour necrosis factor secretion" EXACT uk_spelling []
xref: MP:0008556
xref: UMLS:C4023529
is_a: HP:0011113 ! Abnormality of cytokine secretion
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-12T09:16:58Z

[Term]
id: HP:0011119
name: Abnormal nasal dorsum morphology
def: "An abnormality of the nasal dorsum, also known as the nasal ridge." [https://orcid.org/0000-0002-0736-9199, PMID:19152422]
comment: The nasal ridge is the midline prominence of the nose, extending from the nasal root to the tip.
synonym: "Abnormal morphology of dorsum of nose" NARROW [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the dorsum of nose" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the nasal dorsum" EXACT []
synonym: "Abnormality of the nasal ridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Anomaly of the nasal ridge" EXACT []
synonym: "Crooked dorsum of nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Crooked nasal dorsum" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Crooked nasal ridge" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the dorsum of the nose" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the nasal dorsum" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the nasal ridge" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the dorsum of nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the nasal dorsum" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the nasal ridge" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4021202
xref: UMLS:C4280332
is_a: HP:0010938 ! Abnormal external nose morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-12T09:37:47Z

[Term]
id: HP:0011120
name: Concave nasal ridge
def: "Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip." [https://orcid.org/0000-0002-0736-9199, PMID:19152422]
comment: A saddle-nose deformity can be congenital or acquired (e.g., traumatic) and is associated with structural compromise of the nasoseptal cartilage leading to decreased dorsal nasal structural support. A depression of the dorsum of the nose with loss of nasal tip support and definition, shortened (vertical) nasal length, overrotation of the nasal tip, and retrusion of the nasal spine and caudal septum.
subset: hposlim_core
synonym: "Boxer's nasal deformity" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Boxer's nose deformity" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Concave dorsum of nose" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Concave nasal dorsum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Saddle nose" EXACT layperson []
synonym: "Saddle nose deformity" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Saddle shaped nasal dorsum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Ski jump nose" EXACT layperson []
xref: SNOMEDCT_US:710234009
xref: UMLS:C0264169
is_a: HP:0011119 ! Abnormal nasal dorsum morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-12T09:39:55Z

[Term]
id: HP:0011121
name: Abnormal skin morphology
def: "Any morphological abnormality of the skin." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal skin morphology" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormal skin structure" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of skin morphology" EXACT []
xref: Fyler:4133
xref: UMLS:C4023528
is_a: HP:0000951 ! Abnormality of the skin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-12T10:03:23Z

[Term]
id: HP:0011122
name: Abnormality of skin physiology
def: "Any abnormality of the physiological function of the skin." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of skin physiology" EXACT layperson []
xref: UMLS:C4023527
is_a: HP:0000951 ! Abnormality of the skin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-12T10:05:14Z

[Term]
id: HP:0011123
name: Inflammatory abnormality of the skin
alt_id: HP:0002727
alt_id: HP:0007423
def: "The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal tendency to infections of the skin" EXACT []
synonym: "Inflammatory abnormality of the skin" EXACT layperson []
synonym: "Inflammatory skin disease" RELATED []
synonym: "Skin inflammation" EXACT layperson []
xref: MP:0004947
xref: SNOMEDCT_US:703938007
xref: UMLS:C0011603
xref: UMLS:C3875321
is_a: HP:0011122 ! Abnormality of skin physiology
is_a: HP:0012649 ! Increased inflammatory response
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-12T10:06:04Z

[Term]
id: HP:0011124
name: Abnormal epidermal morphology
def: "An abnormality of the morphology of the epidermis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of epidermal morphology" EXACT []
xref: UMLS:C4023526
is_a: HP:0011121 ! Abnormal skin morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-12T10:11:28Z

[Term]
id: HP:0011125
name: Abnormality of dermal melanosomes
def: "An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis)." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023525
is_a: HP:0001000 ! Abnormality of skin pigmentation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-12T10:19:27Z

[Term]
id: HP:0011126
name: Nephroptosis
def: "A significant descent of the kidney as the patient moves from the supine to the erect position." [https://orcid.org/0000-0002-0736-9199, PMID:18990154]
comment: Nephroptosis is diagnosed if the descent of the kidney is greater than 5 cm or two vertebral bodies on intravenous urogram. The kidney is capable of moving back to the normal position, which differentiates it from an ectopic kidney, which constantly remains in an abnormal position. Nephroptosis may be asymptomatic or may cause symptoms including pain and intermittent ureteric obstruction with hydronephrosis, and ischemia due to elongation, narrowing, or kinking of a renal artery.
synonym: "Floating kidney" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Renal ptosis" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1384594
is_a: HP:0100542 ! Abnormal localization of kidney
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-16T07:34:25Z

[Term]
id: HP:0011127
name: Perioral eczema
def: "A type of eczema that occurs in the lips and perioral area." [https://orcid.org/0000-0002-0736-9199]
comment: Perioral eczema mainly affects children.
synonym: "Eczema around the mouth" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1396126
is_a: HP:0000964 ! Eczematoid dermatitis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-16T07:41:19Z

[Term]
id: HP:0011128
name: Acute esophageal necrosis
def: "A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion ('black esophagus') distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction." [https://orcid.org/0000-0002-0736-9199, PMID:17322991]
xref: UMLS:C4023524
is_a: HP:0002031 ! Abnormal esophagus morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-18T08:48:53Z

[Term]
id: HP:0011129
name: Bilateral fetal pyelectasis
def: "A bilateral form of fetal pyelectasis." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bilateral fetal pyelectasia" EXACT []
synonym: "Bilateral foetal pyelectasia" EXACT uk_spelling []
synonym: "Bilateral foetal pyelectasis" EXACT uk_spelling []
xref: UMLS:C4023523
is_a: HP:0010945 ! Fetal pyelectasis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-19T10:00:34Z

[Term]
id: HP:0011130
name: Abnormal renal calyx morphology
def: "Any abnormality of the morphology of the major calices or minor calices of the kidney." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of renal calyx morphology" EXACT []
xref: UMLS:C4023522
is_a: HP:0012210 ! Abnormal renal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-19T10:06:45Z

[Term]
id: HP:0011131
name: Perianal dermatitis
def: "The presence of a rash (change of color and texture) of the perianal skin." [https://orcid.org/0000-0002-0736-9199]
synonym: "Perianal rash" EXACT layperson []
xref: UMLS:C0240705
is_a: HP:0034915 ! Abnormal anus morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-19T12:16:41Z

[Term]
id: HP:0011132
name: Chronic furunculosis
def: "A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection." [https://orcid.org/0000-0002-0736-9199]
comment: Note that a confluence of several furuncles results in a carbuncle.
xref: UMLS:C4023521
is_a: HP:0005406 ! Recurrent bacterial skin infections
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-19T10:25:47Z

[Term]
id: HP:0011133
name: Increased sensitivity to ionizing radiation
def: "An abnormally increased sensitivity to the effects of ionizing radiation." [https://orcid.org/0000-0002-0736-9199]
comment: Ionizing radiation can lead to the production of free radicals, break chemical bonds, and damage DNA; RNA, and proteins. Cellular damage related to low doses such as that received from normal background radiation is rapidly repaired under normal conditions.
synonym: "Increased sensitivity to ionizing radiation" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4021850
is_a: HP:0011017 ! Abnormal cellular physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-19T11:04:20Z

[Term]
id: HP:0011134
name: Low-grade fever
def: "Mild fever that does not exceed 38.5 degrees centigrade." [https://orcid.org/0000-0002-0736-9199]
synonym: "Low-grade fever" EXACT layperson []
synonym: "Mild fever" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:304213008
xref: UMLS:C0239574
is_a: HP:0001945 ! Fever
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-19T12:19:44Z

[Term]
id: HP:0011135
name: Aplasia/Hypoplasia of the sweat glands
def: "Absence or developmental hypoplasia of the sweat glands." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small sweat glands" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped sweat glands" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023520
is_a: HP:0000971 ! Abnormal sweat gland morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-19T02:01:50Z

[Term]
id: HP:0011136
name: Aplasia of the sweat glands
def: "Absence of the sweat glands." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent sweat glands" EXACT layperson []
synonym: "Lack of sweat glands" EXACT layperson []
xref: UMLS:C2677485
is_a: HP:0011135 ! Aplasia/Hypoplasia of the sweat glands
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-19T02:06:44Z

[Term]
id: HP:0011137
name: Non-pruritic urticaria
def: "Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus." [https://orcid.org/0000-0002-0736-9199]
comment: Although the English-language names for uritcaria and non-pruritic urticaria are very similar these are treated as distinct lesions. Non-pruritic urticaria should not be considered to be a subclass of urticaria, because the latter is characterized by pruritus.
synonym: "Non-itchy hives" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4023519
is_a: HP:0011276 ! Vascular skin abnormality
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-19T02:17:55Z

[Term]
id: HP:0011138
name: Abnormal skin adnexa morphology
def: "An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal skin appendage" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of skin adnexa morphology" EXACT []
xref: UMLS:C4023518
is_a: HP:0001574 ! Abnormality of the integument
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-19T06:25:34Z

[Term]
id: HP:0011139
name: Gastric duplication
def: "Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach." [https://orcid.org/0000-0002-0736-9199]
comment: Gastric duplication usually presents as gastric outlet obstruction. They are usually spherical in form, do not communicate with the stomach, and are generally localized at the greater curvature. In some cases they may exhibit adhesion to the pancreas and even communicate with aberrant pancreatic ducts. Gastric duplication is more frequent in females. It is generally either diagnosed in infancy because of symptoms of gastric outlet obstruction or is an incidental finding in adulthood.
synonym: "Gastric duplication cyst" EXACT []
xref: UMLS:C4021201
is_a: HP:0002577 ! Abnormal stomach morphology
is_a: HP:0011140 ! Gastrointestinal duplication
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-25T08:57:09Z

[Term]
id: HP:0011140
name: Gastrointestinal duplication
def: "A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus." [https://orcid.org/0000-0002-0736-9199, PMID:21218094]
synonym: "GI duplication" EXACT abbreviation []
xref: SNOMEDCT_US:33257003
xref: UMLS:C0266019
is_a: HP:0012718 ! Abnormal gastrointestinal tract morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-25T09:02:50Z

[Term]
id: HP:0011141
name: Age-related cataract
def: "A type of cataract (opacification of the lens) that forms during the course of aging." [https://orcid.org/0000-0002-0736-9199, PMID:15708105]
comment: The lens is formed from ectodermal tissue and contains epithelial cells that give rise to lens fibers throughout life, so with increasing age the lens becomes more compact and thicker.
synonym: "Clouding of the lens of the eye with age" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:39450006
xref: UMLS:C0036646
is_a: HP:0000518 ! Cataract
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-27T09:41:38Z

[Term]
id: HP:0011142
name: Age-related nuclear cataract
def: "A type of age-related cataract that primarily affects the nucleus of the lens." [https://orcid.org/0000-0002-0736-9199, PMID:15708105]
comment: As the lens ages, new layers of fibers are added and the lens nucleus is compressed and becomes harder (nuclear sclerosis cataract), with associated yellowing of the lens. Nuclear sclerosis typically progresses slowly.
xref: UMLS:C1832423
is_a: HP:0011141 ! Age-related cataract
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-27T09:49:20Z

[Term]
id: HP:0011143
name: Age-related cortical cataract
def: "A type of age-related cataract that primarily affects the cortex of the lens." [https://orcid.org/0000-0002-0736-9199, PMID:15708105]
comment: The cortex of the lens is made of the newest lens fibers. With aging, discrete opacities can develop within the cortex of the lens that typically cause no visual symptoms unless they involve the visual axis or the entire cortex, in which case the lens becomes white and is said to be mature.
xref: UMLS:C2880562
is_a: HP:0011141 ! Age-related cataract
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-27T09:50:54Z

[Term]
id: HP:0011144
name: Age-related posterior subcapsular cataract
def: "A type of age-related cataract consisting of granular opacities occurring mainly in the central posterior cortex just under the posterior capsule." [https://orcid.org/0000-0002-0736-9199, PMID:15708105]
xref: UMLS:C4023517
is_a: HP:0011141 ! Age-related cataract
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-06-27T09:52:45Z

[Term]
id: HP:0011145
name: Symptomatic seizures
def: "A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed." [PMID:18184148]
comment: While all patients with epilepsy experience seizures, not all individuals with seizures have epilepsy. One or more epileptic seizures may occur in the context of a brain insult (systemic, toxic, or metabolic). These events (defined acute symptomatic seizures, provoked seizures, or situation-related seizures) are presumed to be an acute manifestation of the insult and may not recur when the underlying cause has been removed or the acute phase has elapsed.
xref: UMLS:C4023516
is_a: HP:0001250 ! Seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-10-18T01:40:33Z

[Term]
id: HP:0011146
name: Dialeptic seizure
def: "A dialeptic seizure is a type of seizure characterized predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event." [PMID:9738682]
comment: The main ictal manifestation of dialeptic seizures is an alteration of consciousness rather than motor or sensory features. The term describes the pure clinical semiology of a seizure and is used independently of the ictal electrographic findings: it could describe a seizure of focal, generalized or unknown onset. In 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (>80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination.
synonym: "Behavioral arrest seizure with impairment of awareness irrespective of onset" EXACT []
synonym: "Behavioural arrest seizure with impairment of awareness irrespective of onset" EXACT uk_spelling []
synonym: "Unknown onset behavioral arrest seizure with impairment of awareness" EXACT []
synonym: "Unknown onset behavioural arrest seizure with impairment of awareness" EXACT uk_spelling []
is_a: HP:0001250 ! Seizure
creation_date: 2011-10-18T01:47:30Z

[Term]
id: HP:0011147
name: Typical absence seizure
def: "A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event." [HPO_CONTRIBUTOR:jalbers, PMID:28276060, PMID:28276062, PMID:28276064, PMID:6790275]
comment: In 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (>80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. Typical absences have 2 essential components: (1) clinically the impairment of consciousness (absence), and (2) EEG generalized 3 Hz to 4 Hz (less than 2.5 Hz) spike and slow wave discharges.
synonym: "Typical absence" EXACT []
synonym: "Typical absence seizures" EXACT plural_form []
xref: SNOMEDCT_US:230413002
xref: SNOMEDCT_US:432241000124101
xref: SNOMEDCT_US:50866000
xref: SNOMEDCT_US:79631006
xref: UMLS:C0014553
is_a: HP:0002121 ! Generalized non-motor (absence) seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-10-18T01:52:22Z

[Term]
id: HP:0011148
name: obsolete Absence seizures with special features
is_obsolete: true
replaced_by: HP:0002121
creation_date: 2011-10-18T01:56:54Z

[Term]
id: HP:0011149
name: Absence seizure with eyelid myoclonia
def: "An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterized by forced upward jerking of the eyelids during an absence seizure." [HPO_CONTRIBUTOR:jalbers, PMID:19469840, PMID:28276060, PMID:28276062, PMID:28276064]
comment: This type of seizure was classified as a type of generalized non-motor seizure by the ILAE in 2017 because the absence predominates over the eyelid myoclonia. However, eyelid myoclonia can occur as a generalized-onset seizure without any absence, in which they may be better considered a motor seizure: see Eyelid myoclonia seizure.
synonym: "Absence seizures with eyelid myoclonia" EXACT plural_form []
xref: UMLS:C4023513
is_a: HP:0002121 ! Generalized non-motor (absence) seizure
is_a: HP:0032678 ! Eyelid myoclonia seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-10-18T02:03:21Z

[Term]
id: HP:0011150
name: Myoclonic absence seizure
def: "Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterized by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017." [https://orcid.org/0000-0001-8486-0558, PMID:28276060, PMID:28276062, PMID:28276064, PMID:9637609]
synonym: "Myoclonic absence" EXACT []
synonym: "Myoclonic absences" EXACT plural_form []
xref: UMLS:C4023512
is_a: HP:0002121 ! Generalized non-motor (absence) seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-10-18T02:04:35Z

[Term]
id: HP:0011151
name: Atypical absence status epilepticus
def: "Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure." [HPO_CONTRIBUTOR:jalbers]
comment: In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. This form of seizure may be observed in Lennox-Gastaut syndrome.
synonym: "Obtundation status" EXACT []
xref: UMLS:C4023511
is_a: HP:0032860 ! Generalized non-convulsive status epilepticus without coma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-10-18T02:09:55Z

[Term]
id: HP:0011152
name: Early onset absence seizures
def: "Typical absence seizures starting before the age of 4 years." [https://orcid.org/0000-0001-8486-0558]
synonym: "Early onset petit mal seizures" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4023510
is_a: HP:0011147 ! Typical absence seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-10-18T02:12:41Z

[Term]
id: HP:0011153
name: Focal motor seizure
def: "A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation." [HPO_CONTRIBUTOR:jalbers, https://orcid.org/0000-0002-1735-8178, PMID:11580774, PMID:28276060, PMID:28276064]
comment: A motor onset seizure involves motor activity (movement) and may be due to either an increase or decrease in contraction in a muscle or group of muscles. Depending on the muscle groups involved and the way they are affected, the movement features of a motor onset seizure may be simple or more complex.
synonym: "Focal motor seizures" EXACT plural_form []
synonym: "Localised motor seizure" EXACT uk_spelling []
synonym: "Localised motor seizures" EXACT uk_spelling []
synonym: "Localized motor seizure" EXACT []
synonym: "Localized motor seizures" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Partial motor seizure" EXACT []
synonym: "Partial motor seizures" EXACT plural_form [https://orcid.org/0000-0001-6908-9849]
synonym: "Segmental motor seizure" EXACT []
xref: SNOMEDCT_US:128612007
xref: SNOMEDCT_US:82401000
xref: UMLS:C0016399
is_a: HP:0007359 ! Focal-onset seizure
is_a: HP:0020219 ! Motor seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-10-18T02:33:17Z

[Term]
id: HP:0011154
name: Focal autonomic seizure
alt_id: HP:0011164
def: "An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature." [HPO_CONTRIBUTOR:jalbers, PMID:28276060, PMID:28276064]
comment: Focal seizures with a subjective or objectively documented alteration of autonomic nervous system function at onset, involving but not limited to, cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor and thermoregulatory functions. Focal autonomic seizure is not a child of Epileptic aura (HP:0033348) as many Focal autonomic seizures are not purely subjective (required to be called an aura).
synonym: "Focal autonomic seizures" EXACT plural_form []
xref: UMLS:C4023509
is_a: HP:0032679 ! Focal non-motor seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-10-18T02:23:31Z

[Term]
id: HP:0011155
name: obsolete Focal autonomic seizures with altered responsiveness
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
is_obsolete: true
replaced_by: HP:0032755
creation_date: 2011-10-18T02:24:09Z

[Term]
id: HP:0011156
name: obsolete Focal autonomic seizures without altered responsiveness
is_obsolete: true
replaced_by: HP:0032740
creation_date: 2011-10-18T02:24:42Z

[Term]
id: HP:0011157
name: Focal sensory seizure
def: "A focal sensory seizure is a type seizure beginning with a subjective sensation." [HPO_CONTRIBUTOR:jalbers, https://orcid.org/0000-0002-1511-5893, PMID:28276060, PMID:28276062, PMID:28276064]
comment: A focal sensory seizure involves a sensation being experienced at seizure onset, without objective clinical signs of a seizure evident to the observer.
synonym: "Focal sensory seizures" EXACT plural_form []
synonym: "Partial sensory seizure" EXACT []
synonym: "Sensory aura" EXACT []
xref: SNOMEDCT_US:18618006
xref: UMLS:C0236018
is_a: HP:0033348 ! Epileptic aura
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-10-18T02:26:40Z

[Term]
id: HP:0011158
name: Focal sensory seizure with auditory features
def: "A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation." [HPO_CONTRIBUTOR:jalbers, PMID:28276062, PMID:28276064]
comment: More complex auditory hallucinations such as voices are considered a focal cognitive seizure. Focal sensory auditory seizures involve auditory cortex in the lateral superior temporal lobe.
synonym: "Auditory aura" EXACT []
synonym: "Focal auditory seizure" EXACT []
synonym: "Focal sensory auditory seizure" EXACT []
synonym: "Partial auditory seizure" EXACT []
xref: UMLS:C1838063
is_a: HP:0011157 ! Focal sensory seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-10-18T02:26:59Z

[Term]
id: HP:0011159
name: Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena
def: "A type of focal autonomic seizure characterized by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature." [HPO_CONTRIBUTOR:jalbers, PMID:28276060]
comment: This includes epigastric sensations (which may rise up to the chest or throat) such as upper abdominal discomfort, emptiness, tightness, churning, or hunger, as well as ictal nausea and ictal vomiting.
synonym: "Abdominal aura" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Epigastric aura" EXACT []
synonym: "Epigastric auras" EXACT plural_form []
synonym: "Localised seizure with epigastric sensation" EXACT []
synonym: "Localized seizure with epigastric sensation" EXACT []
synonym: "Partial seizure with epigastric sensation" EXACT []
synonym: "Visceral aura" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4023506
is_a: HP:0011154 ! Focal autonomic seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-10-18T02:27:58Z

[Term]
id: HP:0011160
name: Focal sensory seizure with gustatory features
def: "A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation." [HPO_CONTRIBUTOR:jalbers, PMID:28276060]
comment: These seizures involve the parietal operculum and the insula.
synonym: "Focal gustatory seizure" EXACT []
synonym: "Focal sensory gustatory seizure" EXACT []
synonym: "Gustatory aura" EXACT []
synonym: "Gustatory auras" EXACT plural_form []
synonym: "Partial gustatory seizure" EXACT []
synonym: "Taste hallucinations" EXACT layperson [http://medical-dictionary.thefreedictionary.com/gustatory+aura, https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:29139005
xref: UMLS:C0233766
is_a: HP:0011157 ! Focal sensory seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-10-18T02:28:36Z

[Term]
id: HP:0011161
name: Focal sensory seizure with olfactory features
def: "Seizures characterized by olfactory phenomena as its first clinical manifestation." [HPO_CONTRIBUTOR:jalbers]
comment: These seizures involve the mesial temporal or orbitofrontal regions.
synonym: "Focal olfactory seizure" EXACT []
synonym: "Olfactory aura" EXACT []
synonym: "Olfactory auras" EXACT plural_form []
synonym: "Partial olfactory seizure" EXACT []
xref: UMLS:C4023504
is_a: HP:0011157 ! Focal sensory seizure
is_a: HP:0033693 ! Phantosmia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-10-18T02:28:55Z

[Term]
id: HP:0011162
name: obsolete Psychic auras
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
is_obsolete: true
replaced_by: HP:0032680
creation_date: 2011-10-18T02:29:23Z

[Term]
id: HP:0011163
name: Focal sensory seizure with somatosensory features
def: "A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation." [HPO_CONTRIBUTOR:jalbers, PMID:28276060]
comment: These seizures involve the sensorimotor cortex.
synonym: "Focal somatosensory seizure" EXACT []
synonym: "Partial somatosensory seizure" EXACT []
synonym: "Somatosensory aura" EXACT []
synonym: "Somatosensory auras" EXACT plural_form []
xref: UMLS:C4023502
is_a: HP:0011157 ! Focal sensory seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-10-18T02:29:52Z

[Term]
id: HP:0011164
name: obsolete Vegetative auras
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
is_obsolete: true
replaced_by: HP:0011154
creation_date: 2011-10-18T02:30:10Z

[Term]
id: HP:0011165
name: Focal sensory seizure with visual features
alt_id: HP:0007175
alt_id: HP:0025121
def: "A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation." [HPO_CONTRIBUTOR:jalbers]
comment: More complex visual hallucinations such as seeing formed images are considered a focal cognitive seizure. Focal sensory visual seizures arise in the occipital lobe. Note that there is a distinction between Visual aura and Simple partial occipital seizures. See HPO term HP:0025121 for comments.
synonym: "Focal visual seizure" EXACT []
synonym: "Partial visual seizure" EXACT []
synonym: "Simple partial occipital seizures" RELATED []
synonym: "Visual aura" EXACT []
synonym: "Visual auras" EXACT plural_form []
xref: UMLS:C1850765
is_a: HP:0011157 ! Focal sensory seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-10-18T02:31:15Z

[Term]
id: HP:0011166
name: Focal myoclonic seizure
alt_id: HP:0025191
def: "A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus." [PMID:11580774, PMID:28276060, PMID:28276064]
synonym: "Focal myoclonic seizures" EXACT plural_form []
synonym: "Local myoclonic seizures" EXACT plural_form [https://orcid.org/0000-0001-6908-9849]
synonym: "Localised myoclonic seizure" EXACT []
synonym: "Localized myoclonic seizure" EXACT []
synonym: "Partial myoclonic seizure" EXACT []
synonym: "Partial myoclonic seizures" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Segmental myoclonic seizure" EXACT []
synonym: "Segmental myoclonic seizures" EXACT plural_form []
xref: UMLS:C4023501
is_a: HP:0011153 ! Focal motor seizure
is_a: HP:0032794 ! Myoclonic seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-10-18T02:34:14Z

[Term]
id: HP:0011167
name: Focal tonic seizure
def: "A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes." [HPO_CONTRIBUTOR:jalbers, PMID:11580774, PMID:28276060, PMID:28276064]
comment: The abnormal movements of dystonia resulting from co-contraction of agonist and antagonist muscles differentiates these from tonic seizures, see focal dystonic seizure.
synonym: "Focal tonic seizures" EXACT plural_form []
synonym: "Local tonic seizures" EXACT plural_form [https://orcid.org/0000-0001-6908-9849]
synonym: "Localised tonic seizure" EXACT []
synonym: "Localized tonic seizure" EXACT []
synonym: "Partial tonic seizure" EXACT []
synonym: "Partial tonic seizures" EXACT plural_form [https://orcid.org/0000-0001-6908-9849]
synonym: "Segmental tonic seizure" EXACT []
xref: UMLS:C0752324
is_a: HP:0011153 ! Focal motor seizure
is_a: HP:0032792 ! Tonic seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-10-18T02:35:03Z

[Term]
id: HP:0011168
name: Focal seizure with eyelid myoclonia
def: "Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures." [https://orcid.org/0000-0001-8486-0558]
synonym: "Eyelid myoclonias" EXACT []
xref: UMLS:C4023500
is_a: HP:0011166 ! Focal myoclonic seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-10-18T02:39:07Z

[Term]
id: HP:0011169
name: Generalized clonic seizure
def: "Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups." [HPO_CONTRIBUTOR:jalbers, PMID:28276060, PMID:28276064]
comment: Generalized clonic seizures are much less common than are tonic-clonic seizures, usually occur in infants, and should be distinguished from jitteriness or shuddering attacks.
synonym: "Generalised clonic seizure" EXACT []
synonym: "Generalised clonic seizures" EXACT uk_spelling []
synonym: "Generalised onset clonic seizure" EXACT []
synonym: "Generalised-onset clonic seizure" EXACT []
synonym: "Generalized clonic seizures" EXACT plural_form []
synonym: "Generalized onset clonic seizure" EXACT []
synonym: "Generalized-onset clonic seizure" EXACT []
xref: UMLS:C4023499
is_a: HP:0020221 ! Clonic seizure
is_a: HP:0032677 ! Generalized-onset motor seizure
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T09:53:43Z

[Term]
id: HP:0011170
name: Generalized myoclonic-atonic seizure
def: "A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component." [HPO_CONTRIBUTOR:jalbers, PMID:28276060, PMID:28276064]
comment: A myoclonic-tonic seizure was previously called a myoclonic-astatic seizure. ILAE2017 does not currently consider myoclonic-atonic seizures to be a form of myoclonic seizure which is why it is classified as a motor seizure.
synonym: "Generalised myoclonic-atonic seizure" EXACT []
synonym: "Myoclonic atonic seizures" EXACT plural_form []
synonym: "Myoclonic-astatic seizure" EXACT []
xref: SNOMEDCT_US:230421008
xref: UMLS:C0393702
is_a: HP:0032677 ! Generalized-onset motor seizure
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T10:00:46Z

[Term]
id: HP:0011171
name: Simple febrile seizure
def: "A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance." [HPO_CONTRIBUTOR:jalbers, PMID:19125841, PMID:6779259, PMID:972656]
comment: Fever may not be detected before the seizure, but it must be present at least in the immediate postacute period. In most cases these seizures are of a generalized tonic-clonic semiology.
synonym: "Simple febrile convulsion" EXACT [https://en.wikipedia.org/wiki/febrile_seizure, https://orcid.org/0000-0001-5208-3432]
synonym: "Simple febrile seizures" EXACT plural_form []
synonym: "Simple fever fit" EXACT [https://en.wikipedia.org/wiki/febrile_seizure, https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:432354000
xref: UMLS:C0149886
is_a: HP:0002373 ! Febrile seizure (within the age range of 3 months to 6 years)
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T10:09:04Z

[Term]
id: HP:0011172
name: Complex febrile seizure
def: "A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period." [HPO_CONTRIBUTOR:jalbers, PMID:19125841, PMID:972656]
comment: Children presenting with a prolonged seizure stopped with anticonvulsive therapy (i.e., diazepam) before the 15th minute should be classified within this group.
synonym: "Complex febrile convulsion" EXACT []
synonym: "Complex febrile seizures" EXACT plural_form []
synonym: "Complex fever fit" EXACT []
xref: SNOMEDCT_US:433083002
xref: UMLS:C0751057
is_a: HP:0002373 ! Febrile seizure (within the age range of 3 months to 6 years)
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T10:10:00Z

[Term]
id: HP:0011173
name: Focal behavior arrest seizure
def: "A type of focal non-motor seizure characterized by an arrest or pause of activities, freezing, or immobilization as the predominant semiological feature throughout the seizure." [HPO_CONTRIBUTOR:jalbers, PMID:28276060]
comment: The word 'focal' is explicit in the term title to emphasize the difference between these seizures and absence (generalized non-motor) seizures. Because brief behavior arrest is common and difficult to identify at the start of many seizures, the arrest must be persistent and dominant through the entire seizure. If the patient is able to identify that fear is the primary onset feature of the seizure, and results in immobility, the seizure is a focal emotional seizure with fear, and the immobility is then considered a descriptive feature, due to the fear. If the focal seizure is not characterized by this feature at the very outset of the seizure, it is not used to classify the seizure, it is instead used as a seizure descriptor, after the seizure is classified according to its onset feature.
synonym: "Focal behaviour arrest seizure" EXACT uk_spelling []
synonym: "Focal hypokinetic seizure" EXACT []
synonym: "Hypokinetic seizure" EXACT []
synonym: "Hypokinetic seizures" EXACT plural_form []
synonym: "Localised seizure with behavioral arrest" EXACT []
synonym: "Localised seizure with behavioural arrest" EXACT uk_spelling []
synonym: "Localized seizure with behavioral arrest" EXACT []
synonym: "Partial hypokinetic seizure" EXACT []
synonym: "Partial seizure with behavior arrest" EXACT []
synonym: "Partial seizure with behaviour arrest" EXACT uk_spelling []
xref: UMLS:C4023498
is_a: HP:0032679 ! Focal non-motor seizure
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T10:12:04Z

[Term]
id: HP:0011174
name: Focal hyperkinetic seizure
def: "A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements." [HPO_CONTRIBUTOR:jalbers, PMID:11580774, PMID:28276060, PMID:28276064]
comment: The 2017 ILAE classification arbitrarily groups pedaling activity with hyperkinetic seizures, rather than with automatism seizures. However, some automatisms overlap other motor behaviors and where pedaling is slow and coordinated it may be considered an automatism.
synonym: "Hyperkinetic seizures" EXACT plural_form []
synonym: "Localised hyperkinetic seizure" EXACT []
synonym: "Localized hyperkinetic seizure" EXACT []
synonym: "Partial hyperkinetic seizure" EXACT []
synonym: "Segmental hyperkinetic seizure" EXACT []
xref: UMLS:C4023497
is_a: HP:0011153 ! Focal motor seizure
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T10:13:17Z

[Term]
id: HP:0011175
name: Focal motor seizure with version
def: "A type of focal motor seizure characterized by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation." [HPO_CONTRIBUTOR:jalbers]
synonym: "Versive seizure" EXACT []
synonym: "Versive seizures" EXACT plural_form []
xref: SNOMEDCT_US:246530009
xref: UMLS:C0422846
is_a: HP:0011153 ! Focal motor seizure
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T10:14:54Z

[Term]
id: HP:0011176
name: EEG with constitutional variants
def: "An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023496
is_a: HP:0002353 ! EEG abnormality
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T10:18:43Z

[Term]
id: HP:0011177
name: EEG with 4-5/second background activity
def: "EEG background activity at 4-5/second." [HPO_CONTRIBUTOR:jalbers]
comment: EEG background activity at 4-5/second is rare and unusual but not generally pathologic.
xref: UMLS:C4023495
is_a: HP:0011176 ! EEG with constitutional variants
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T10:20:59Z

[Term]
id: HP:0011178
name: Alpha-EEG
def: "EEG dominated by diffuse alpha-waves (8-13Hz)." [HPO_CONTRIBUTOR:jalbers]
comment: Alpha-EEG is a rare finding but not generally pathologic.
xref: UMLS:C4023494
is_a: HP:0011176 ! EEG with constitutional variants
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T10:23:53Z

[Term]
id: HP:0011179
name: Beta-EEG
def: "EEG dominated by diffuse beta-waves (>13 Hz)." [HPO_CONTRIBUTOR:jalbers]
comment: Beta-EEG is a rare finding but not generally pathologic.
synonym: "Beta wave electroencephalography" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4023493
is_a: HP:0011176 ! EEG with constitutional variants
is_a: HP:0011202 ! EEG with diffuse acceleration
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T10:25:00Z

[Term]
id: HP:0011180
name: Partial beta-EEG
def: "EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz)." [HPO_CONTRIBUTOR:jalbers]
comment: A partial beta-EEG is a rare finding but not generally pathologic.
xref: UMLS:C4023492
is_a: HP:0011179 ! Beta-EEG
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T10:25:50Z

[Term]
id: HP:0011181
name: Low voltage EEG
def: "EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz)." [HPO_CONTRIBUTOR:jalbers]
comment: A low voltage EEG is a rare finding but not generally pathologic.
xref: UMLS:C1851759
is_a: HP:0011176 ! EEG with constitutional variants
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T10:27:20Z

[Term]
id: HP:0011182
name: Interictal epileptiform activity
def: "Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure." [https://orcid.org/0000-0002-0736-9199]
comment: Epileptiform EEG discharges include small sharp spikes (SSSs), wicket spikes, 14- and 6-Hz positive spikes, phantom spike and waves, psychomotor variant, subclinical rhythmic EEG discharges of adults (SREDA), and midline theta rhythm.
synonym: "Epileptiform EEG discharges" EXACT []
xref: UMLS:C4023491
is_a: HP:0025373 ! Interictal EEG abnormality
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T10:32:25Z

[Term]
id: HP:0011183
name: EEG with hyperventilation-induced focal epileptiform discharges
def: "Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023490
is_a: HP:0010858 ! EEG with hyperventilation-induced epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T10:36:34Z

[Term]
id: HP:0011184
name: EEG with hyperventilation-induced generalized epileptiform discharges
def: "Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO_CONTRIBUTOR:jalbers]
synonym: "EEG with hyperventilation-induced generalised epileptiform discharges" EXACT uk_spelling []
xref: UMLS:C4023489
is_a: HP:0010858 ! EEG with hyperventilation-induced epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T10:37:49Z

[Term]
id: HP:0011185
name: EEG with focal epileptiform discharges
alt_id: HP:0010840
def: "EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO_CONTRIBUTOR:jalbers]
comment: Note that a focal EEG abnormality is not synonymous with "focal epileptiform discharges" because a focal EEG abnormality is not necessarily epileptiform (e.g., it could be a focal slowing).
synonym: "Focal EEG Abnormality" EXACT []
xref: UMLS:C4021199
is_a: HP:0011182 ! Interictal epileptiform activity
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T10:39:02Z

[Term]
id: HP:0011186
name: Focal epileptiform discharges with limited propagation to contralateral hemisphere
def: "Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023488
is_a: HP:0011185 ! EEG with focal epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T10:40:22Z

[Term]
id: HP:0011187
name: Focal EEG discharges with propagation to ipsilateral hemisphere
def: "Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023487
is_a: HP:0011185 ! EEG with focal epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T10:43:06Z

[Term]
id: HP:0011188
name: Focal EEG discharges with secondary generalization
def: "Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp." [HPO_CONTRIBUTOR:jalbers]
synonym: "Focal EEG discharges with secondary generalisation" EXACT uk_spelling []
xref: UMLS:C4023486
is_a: HP:0011185 ! EEG with focal epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T10:44:33Z

[Term]
id: HP:0011189
name: Bilateral multifocal epileptiform discharges
def: "Epileptiform discharges being identified at multiple locations in both hemispheres." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023485
is_a: HP:0010841 ! Multifocal epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T10:47:23Z

[Term]
id: HP:0011190
name: Uni- and bilateral multifocal epileptiform discharges
def: "Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023484
is_a: HP:0010841 ! Multifocal epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T10:48:14Z

[Term]
id: HP:0011191
name: Unilateral multifocal epileptiform discharges
def: "Epileptiform discharges being identified at multiple locations in one hemisphere." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023483
is_a: HP:0010841 ! Multifocal epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T10:48:51Z

[Term]
id: HP:0011192
name: Polymorphic focal epileptiform discharges
def: "Focal epileptiform discharges of different shapes and frequencies." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023482
is_a: HP:0011185 ! EEG with focal epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T10:49:45Z

[Term]
id: HP:0011193
name: EEG with focal spikes
def: "EEG with focal sharp transient waves of a duration less than 80 msec." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023481
is_a: HP:0011185 ! EEG with focal epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T10:50:36Z

[Term]
id: HP:0011194
name: EEG with series of focal spikes
def: "Focal spikes occurring for several seconds." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023480
is_a: HP:0011193 ! EEG with focal spikes
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T10:51:41Z

[Term]
id: HP:0011195
name: EEG with focal sharp slow waves
def: "EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023479
is_a: HP:0011185 ! EEG with focal epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T11:02:29Z

[Term]
id: HP:0011196
name: EEG with focal sharp waves
def: "EEG with focal sharp transient waves of a duration between 80 and 200 msec." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023478
is_a: HP:0011185 ! EEG with focal epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T11:11:50Z

[Term]
id: HP:0011197
name: EEG with focal spike waves
def: "EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023477
is_a: HP:0011185 ! EEG with focal epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T11:12:45Z

[Term]
id: HP:0011198
name: EEG with generalized epileptiform discharges
alt_id: HP:0010842
def: "EEG discharges recorded on the entire scalp typically seen in persons with epilepsy." [HPO_CONTRIBUTOR:jalbers]
comment: Spikes (<70 ms) and sharp waves (70-200 ms) are sharp transient waves that have a strong association with epilepsy. No difference is noted in terms of clinical significance of spikes and sharp waves. Significant spikes usually are followed by a slow wave.
synonym: "EEG with generalised epileptiform discharges" EXACT uk_spelling []
xref: UMLS:C4023476
is_a: HP:0011182 ! Interictal epileptiform activity
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T11:15:46Z

[Term]
id: HP:0011199
name: EEG with generalized sharp slow waves
def: "EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO_CONTRIBUTOR:jalbers]
synonym: "EEG with generalised sharp slow waves" EXACT uk_spelling []
xref: UMLS:C4023475
is_a: HP:0011198 ! EEG with generalized epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T11:17:38Z

[Term]
id: HP:0011200
name: EEG with generalized polymorphic epileptiform discharges
def: "Generalized epileptiform discharges of different shapes and frequencies." [HPO_CONTRIBUTOR:jalbers]
synonym: "EEG with generalised polymorphic epileptiform discharges" EXACT uk_spelling []
xref: UMLS:C4023474
is_a: HP:0011198 ! EEG with generalized epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T11:19:04Z

[Term]
id: HP:0011201
name: EEG with changes in voltage
def: "EEG with abnormal amplitude." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023473
is_a: HP:0002353 ! EEG abnormality
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T11:20:13Z

[Term]
id: HP:0011202
name: EEG with diffuse acceleration
def: "EEG frequency is abnormally increased." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023472
is_a: HP:0002353 ! EEG abnormality
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T11:23:55Z

[Term]
id: HP:0011203
name: EEG with abnormally slow frequencies
def: "EEG with abnormally slow frequencies." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023471
is_a: HP:0002353 ! EEG abnormality
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T11:26:47Z

[Term]
id: HP:0011204
name: EEG with continuous slow activity
def: "EEG showing diffuse slowing without interruption." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023470
is_a: HP:0010845 ! EEG with generalized slow activity
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T11:28:47Z

[Term]
id: HP:0011205
name: EEG with intermittent slow activity
def: "Non-continuous diffuse slowing of electroencephalographic patterns." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023469
is_a: HP:0010845 ! EEG with generalized slow activity
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T11:30:20Z

[Term]
id: HP:0011206
name: EEG with generalized slow activity grade 1
def: "Slowing at frequencies between 7.5 and 8.5 Hz." [HPO_CONTRIBUTOR:jalbers]
synonym: "EEG with generalised slow activity grade 1" EXACT uk_spelling []
xref: UMLS:C4023468
is_a: HP:0010845 ! EEG with generalized slow activity
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2011-11-19T11:31:28Z

[Term]
id: HP:0011207
name: EEG with generalized slow activity grade 2
def: "Generalized slowing of EEG activity at frequencies between 4-7 Hz." [HPO_CONTRIBUTOR:jalbers]
synonym: "EEG with generalised slow activity grade 2" EXACT uk_spelling []
xref: UMLS:C4023467
is_a: HP:0010845 ! EEG with generalized slow activity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-11-19T12:42:03Z

[Term]
id: HP:0011208
name: EEG with generalized slow activity grade 3
def: "Generalized slowing of EEG activity at frequencies between 0.5-3 Hz." [HPO_CONTRIBUTOR:jalbers]
synonym: "EEG with generalised slow activity grade 3" EXACT uk_spelling []
xref: UMLS:C4023466
is_a: HP:0010845 ! EEG with generalized slow activity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-11-19T12:44:11Z

[Term]
id: HP:0011209
name: EEG with generalized slow activity grade 4
def: "EEG without electrical activity." [HPO_CONTRIBUTOR:jalbers]
synonym: "EEG with generalised slow activity grade 4" EXACT uk_spelling []
synonym: "Flat line EEG" EXACT []
xref: UMLS:C4021198
is_a: HP:0010845 ! EEG with generalized slow activity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-11-19T12:46:05Z

[Term]
id: HP:0011210
name: EEG with occipital slowing
def: "Slowing in occipital areas of the scalp EEG." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023465
is_a: HP:0010843 ! EEG with focal slow activity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-11-19T12:55:32Z

[Term]
id: HP:0011211
name: EEG with photoparoxysmal response grade I
def: "Occurrence of epileptiform discharges in occipital regions during photic stimulation." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023464
is_a: HP:0010852 ! EEG with photoparoxysmal response
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-11-19T12:59:07Z

[Term]
id: HP:0011212
name: EEG with photoparoxysmal response grade II
def: "Occurrence of epileptiform discharges in occipital and central regions during photic stimulation." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023463
is_a: HP:0010852 ! EEG with photoparoxysmal response
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-11-19T12:59:32Z

[Term]
id: HP:0011213
name: EEG with photoparoxysmal response grade III
def: "Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023462
is_a: HP:0010852 ! EEG with photoparoxysmal response
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-11-19T12:59:57Z

[Term]
id: HP:0011214
name: EEG with photoparoxysmal response grade IV
def: "Occurrence of generalized epileptiform discharges during photic stimulation." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023461
is_a: HP:0010852 ! EEG with photoparoxysmal response
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-11-19T01:01:38Z

[Term]
id: HP:0011215
name: Hemihypsarrhythmia
def: "Hypsarrhythmia occurring in one hemisphere." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023460
is_a: HP:0011185 ! EEG with focal epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-11-29T07:42:18Z

[Term]
id: HP:0011217
name: Abnormal shape of the occiput
def: "An abnormal shape of occiput." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal shape of posterior cranium" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormal shape of posterior head" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormal shape of posterior skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormal shape of the back of the head" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormal shape of the back of the skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023459
is_a: HP:0012294 ! Abnormal occipital bone morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-03T10:14:06Z

[Term]
id: HP:0011218
name: Abnormal shape of the frontal region
def: "An abnormal shape of the frontal part of the head." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal morphology of the frontal region" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormal shape of the forehead" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Dysmorphic forehead" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Dysmorphic frontal region" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023458
is_a: HP:0430000 ! Abnormal frontal bone morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-03T10:26:03Z

[Term]
id: HP:0011219
name: Short face
def: "Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective)." [PMID:19125436]
comment: Objective measurement of face height is made with sliding calipers from the nasion, just above the depth of the nasal root to the gnathion, the inferior border of the mandible, both in the midline. Note that short face is distinct from wide face.
subset: hposlim_core
synonym: "Decreased height of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased length of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased vertical dimension of face" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Short face" EXACT layperson []
synonym: "Short facies" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Vertical deficiency of face" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Vertical Facial Deficiency" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Vertical facial insufficiency" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Vertical hypoplasia of face" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Vertical insufficiency of face" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Vertical shortening of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023457
is_a: HP:0000274 ! Small face
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-07T09:01:18Z

[Term]
id: HP:0011220
name: Prominent forehead
alt_id: HP:0200061
def: "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [PMID:19125436]
comment: Not to be confused with frontal bossing.
subset: hposlim_core
synonym: "Bulging forehead" RELATED layperson []
synonym: "Prominence of frontal region" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Prominent forehead" EXACT layperson []
synonym: "Pronounced forehead" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Protruding forehead" EXACT layperson []
xref: UMLS:C1837260
xref: UMLS:C1867446
is_a: HP:0000290 ! Abnormal forehead morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-07T09:49:36Z

[Term]
id: HP:0011221
name: Vertical forehead creases
def: "Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression or when the face is at rest." [PMID:19125436]
subset: hposlim_core
synonym: "Frontal creases of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Vertical forehead creases" EXACT layperson []
synonym: "Vertical forehead rhytids" EXACT []
synonym: "Vertical forehead wrinkles" EXACT layperson []
xref: UMLS:C4023456
is_a: HP:0000290 ! Abnormal forehead morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-07T09:55:15Z

[Term]
id: HP:0011222
name: Depressed glabella
def: "Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges." [https://orcid.org/0000-0002-0736-9199, PMID:19125436]
comment: The glabella is the area of the forehead in the midline between the supraorbital ridges, just above the nasal root.
synonym: "Concave glabella" EXACT []
synonym: "Deficiency of glabella" EXACT []
synonym: "Deficient area between the eyebrows" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Flat area between the eyebrows" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Flat glabella" EXACT []
synonym: "Hypoplasia of glabella" EXACT []
xref: UMLS:C4023455
is_a: HP:0002056 ! Abnormality of the glabella
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-07T10:03:30Z

[Term]
id: HP:0011223
name: Metopic depression
def: "Linear vertical groove in the midline of the forehead, extending from hairline to glabella." [PMID:19125436]
subset: hposlim_core
synonym: "Depression of frontal cranial suture" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Depression of metopic cranial suture" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Frontal suture depression" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023454
is_a: HP:0005556 ! Abnormality of the metopic suture
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-07T10:34:38Z

[Term]
id: HP:0011224
name: Ablepharon
alt_id: HP:0009925
def: "Absent eyelids." [PMID:19125427]
comment: In ablepharon, the globe is continuously exposed. It is arguable whether true aplasia of the eyelid exists, or whether this represents severe hypoplasia. Nevertheless, as it is difficult or impossible to make this distinction on clinical grounds, the term was felt to be useful.
subset: hposlim_core
synonym: "Ablepharon of eyelid" EXACT []
synonym: "Absent eyelids" EXACT layperson []
synonym: "Agenesis of eyelids" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Aplasia of the eyelids" RELATED []
synonym: "Missing eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:13401001
xref: SNOMEDCT_US:708541009
xref: UMLS:C0266574
xref: UMLS:C4020757
is_a: HP:0011226 ! Aplasia/Hypoplasia of the eyelid
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-13T07:58:12Z

[Term]
id: HP:0011225
name: Epiblepharon
def: "Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva." [PMID:19125427]
comment: Epiblepharon should be distinguished from entropion.
subset: hposlim_core
xref: SNOMEDCT_US:253212001
xref: UMLS:C0344503
is_a: HP:0000492 ! Abnormal eyelid morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-13T08:28:48Z

[Term]
id: HP:0011226
name: Aplasia/Hypoplasia of the eyelid
def: "Absence or underdevelopment of the eyelid." [https://orcid.org/0000-0002-0736-9199]
synonym: "Failure of development of eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypotrophic eyelid" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023453
is_a: HP:0000492 ! Abnormal eyelid morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-13T08:38:23Z

[Term]
id: HP:0011227
name: Elevated circulating C-reactive protein concentration
def: "An abnormal elevation of the C-reactive protein level in the blood circulation." [https://orcid.org/0000-0002-0736-9199, PMID:28722873]
comment: C-reactive protein (CRP) is produced by the liver, and increases in concentration in response to inflammation.
synonym: "Elevated C-reactive protein level" EXACT []
synonym: "Elevated CRP" RELATED []
xref: UMLS:C0742906
xref: UMLS:C4023452
is_a: HP:0032436 ! Abnormal circulating C-reactive protein concentration
is_a: HP:0033331 ! Acute phase response
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-13T11:04:10Z

[Term]
id: HP:0011228
name: Horizontal eyebrow
def: "An eyebrow that extends straight across the brow, without curve." [PMID:19125427]
subset: hposlim_core
synonym: "Flat eyebrow" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Horizontal eyebrow" EXACT layperson []
synonym: "Lack of eyebrow arch" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Lack of eyebrow curvature" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Straight eyebrow" EXACT layperson []
synonym: "Straight eyebrows" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C3277019
is_a: HP:0000534 ! Abnormal eyebrow morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-14T08:18:29Z

[Term]
id: HP:0011229
name: Broad eyebrow
def: "Regional increase in the width (height) of the eyebrow." [PMID:19125427]
comment: Broadening or flaring can be medial or lateral. Flaring is used to describe a widening with a change in direction of the eyebrow hairs.
subset: hposlim_core
synonym: "Broad eyebrow" EXACT layperson []
synonym: "Broad eyebrows" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Flared eyebrow" EXACT layperson []
synonym: "Flared eyebrows" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Increased vertical height of eyebrow" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased vertical thickness of eyebrow" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased vertical width of eyebrow" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1856121
is_a: HP:0000534 ! Abnormal eyebrow morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-14T08:21:26Z

[Term]
id: HP:0011230
name: Laterally extended eyebrow
def: "An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location." [PMID:19125427]
comment: The degree of extension beyond the obital rim that is considered abnormal has not been established.
synonym: "Increased lateral length of eyebrow" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Laterally elongated eyebrow" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Laterally extended eyebrows" EXACT plural_form []
xref: UMLS:C4023451
is_a: HP:0000534 ! Abnormal eyebrow morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-14T08:27:22Z

[Term]
id: HP:0011231
name: Prominent eyelashes
def: "Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly." [PMID:19125427]
synonym: "Prominent eyelashes" EXACT layperson []
synonym: "Thick eyelashes" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1835802
xref: UMLS:C4023450
is_a: HP:0000499 ! Abnormal eyelash morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-14T08:31:24Z

[Term]
id: HP:0011232
name: Infra-orbital fold
def: "Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge." [PMID:19125427]
comment: This term excludes epicanthus inversus.
subset: hposlim_core
synonym: "Dennie-Morgan fold" RELATED []
synonym: "Infraorbital fold" EXACT []
xref: UMLS:C4023449
is_a: HP:0000606 ! Abnormality of the periorbital region
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-14T07:00:48Z

[Term]
id: HP:0011233
name: Antihelical shelf
def: "Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha." [PMID:19152421]
comment: In marked cases this often appears to be associated with lack of lateral protrusion of the antihelix.
synonym: "Conchal shelf" EXACT []
xref: UMLS:C4021197
is_a: HP:0009738 ! Abnormal antihelix morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-15T07:03:37Z

[Term]
id: HP:0011234
name: Absent antihelix
def: "No discernible ridge between concha and triangular fossa and helix." []
comment: This finding is common in a protruding and cupped ear, where the superior and inferior parts of the antihelix are often absent. This is distinct from partial absence of the antihelix as may occur in, for example, underdeveloped inferior crus of the antihelix.
xref: UMLS:C4023448
is_a: HP:0009738 ! Abnormal antihelix morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-15T07:09:03Z

[Term]
id: HP:0011235
name: Additional crus of antihelix
def: "Supernumerary ridge or crus of the ear arising from the antihelix." [PMID:19152421]
comment: The supernumerary crus usually emanates posteriorly from the antihelix at, or just above, the point of its bifurcation but may have a different origin. In the former case, the finding is termed Stahl ear.
xref: UMLS:C4023447
is_a: HP:0009738 ! Abnormal antihelix morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-15T07:16:54Z

[Term]
id: HP:0011236
name: Angulated antihelix
def: "Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc." [PMID:19152421]
xref: UMLS:C4023446
is_a: HP:0009738 ! Abnormal antihelix morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T10:42:17Z

[Term]
id: HP:0011237
name: Broad inferior crus of antihelix
def: "Increased width of the inferred cross-section of the inferior crus." [PMID:19152421]
comment: This finding is highly variable. The inferior crus is usually sharply folded giving a narrow profile.
synonym: "Antihelix, inferior crus, broad" EXACT []
xref: UMLS:C4021196
is_a: HP:0011243 ! Abnormality of inferior crus of antihelix
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T10:46:34Z

[Term]
id: HP:0011238
name: Prominent inferior crus of antihelix
def: "Increased protrusion of the inferior crus relative to the prominence of the antihelix stem." []
synonym: "Antihelix, inferior crus, prominent" EXACT []
synonym: "Hyperplastic inferior crus of antihelix" EXACT []
synonym: "Hypertrophic inferior crus of antihelix" EXACT []
xref: UMLS:C4021195
is_a: HP:0011243 ! Abnormality of inferior crus of antihelix
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T11:24:43Z

[Term]
id: HP:0011239
name: Underdeveloped inferior crus of antihelix
def: "Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem." [PMID:19152421]
comment: This finding is highly variable.
synonym: "Antihelix, inferior crus, underdeveloped" EXACT []
synonym: "Hypoplastic inferior crus of antihelix" EXACT []
synonym: "Hypotrophic inferior crus of antihelix" EXACT []
xref: UMLS:C4021194
is_a: HP:0011243 ! Abnormality of inferior crus of antihelix
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T11:27:15Z

[Term]
id: HP:0011240
name: Prominent stem of antihelix
def: "Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix." [PMID:19152421]
comment: This finding is highly variable. The relative prominence is attributable to either increased volume of the cartilage and/or the acuteness of the folding angle. Interpretation of relative antihelical prominence may be difficult when the conchal anatomy is distorted, for example, with a cupped ear.
synonym: "Hyperplastic antihelix stem" EXACT []
synonym: "Hypertrophic antihelix stem" EXACT []
xref: UMLS:C4020910
is_a: HP:0011244 ! Abnormality of stem of antihelix
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T11:32:08Z

[Term]
id: HP:0011241
name: Serpiginous stem of antihelix
def: "Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha." [PMID:19152421]
synonym: "Antihelix, stem, serpiginous" EXACT []
xref: UMLS:C4021193
is_a: HP:0011244 ! Abnormality of stem of antihelix
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T11:35:53Z

[Term]
id: HP:0011242
name: Underdeveloped stem of antihelix
def: "Decreased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of a normal helix." [PMID:19152421]
comment: The degree of prominence of the stem is highly variable and is attributable to the volume of the cartilage and/or the acuteness of the folding angle. Interpretation of degree of antihelical prominence may be difficult when the conchal anatomy is distorted, e.g., in cupped ear.
synonym: "Antihelix, stem, underdeveloped" EXACT []
xref: UMLS:C4021192
is_a: HP:0011244 ! Abnormality of stem of antihelix
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T11:38:15Z

[Term]
id: HP:0011243
name: Abnormality of inferior crus of antihelix
def: "An abnormality of the inferior crus of the antihelix is the lower cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa." [https://orcid.org/0000-0002-0736-9199, PMID:19152421]
comment: The inferior antihelical crus runs in an anterior and slightly superior direction, and is usually sharply defined, and appears less variable than its superior counterpart. A synonym is anterior crus of the antihelix.
synonym: "Abnormality of anterior crus of antihelix" EXACT []
xref: UMLS:C4021191
is_a: HP:0009738 ! Abnormal antihelix morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T11:41:44Z

[Term]
id: HP:0011244
name: Abnormality of stem of antihelix
def: "An abnormality of the stem of the antihelix, which is the part below the bifurcation of the antihelix into the inferior and superior crura." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023445
is_a: HP:0009738 ! Abnormal antihelix morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T11:50:01Z

[Term]
id: HP:0011245
name: Abnormality of superior crus of antihelix
def: "An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa." [https://orcid.org/0000-0002-0736-9199, PMID:19152421]
comment: The inferior antihelical crus runs in an anterior and slightly superior direction, and is usually sharply defined, and appears less variable than its superior counterpart. A synonym is anterior crus of the antihelix.
synonym: "Abnormality of posterior crus of antihelix" EXACT []
xref: UMLS:C4021190
is_a: HP:0009738 ! Abnormal antihelix morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T11:52:06Z

[Term]
id: HP:0011246
name: Underdeveloped superior crus of antihelix
def: "Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem." [PMID:19152421]
comment: This finding is highly variable. There may be an inverse relationship between the relative sizes of the superior and inferior crura, but these findings should be coded separately.
synonym: "Hypoplastic superior crus of antihelix" EXACT []
synonym: "Hypotrophic superior crus of antihelix" EXACT []
xref: UMLS:C4021189
is_a: HP:0011245 ! Abnormality of superior crus of antihelix
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T12:00:18Z

[Term]
id: HP:0011247
name: Prominent superior crus of antihelix
def: "Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem." [PMID:19152421]
comment: This finding is highly variable. There may be an inverse relationship between the relative sizes of the superior and inferior crura, but these findings should be coded separately.
synonym: "Hyperplastic superior crus of antihelix" EXACT []
synonym: "Hypertrophic superior crus of antihelix" EXACT []
xref: UMLS:C4021188
is_a: HP:0011245 ! Abnormality of superior crus of antihelix
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T12:02:57Z

[Term]
id: HP:0011248
name: Everted antitragus
def: "Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear)." [PMID:19152421]
xref: UMLS:C4023444
is_a: HP:0009896 ! Abnormal antitragus morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T12:11:37Z

[Term]
id: HP:0011249
name: Absent antitragus
def: "Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix." [PMID:19152421]
comment: The size of the antitragus is highly variable.
xref: UMLS:C4023443
is_a: HP:0009896 ! Abnormal antitragus morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T12:13:00Z

[Term]
id: HP:0011250
name: Bifid antitragus
def: "Double rather than single peak of the antitragus." [PMID:19152421]
synonym: "Double antitragus" EXACT []
xref: UMLS:C4021187
is_a: HP:0009896 ! Abnormal antitragus morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T12:14:26Z

[Term]
id: HP:0011251
name: Underdeveloped antitragus
def: "Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix." [https://orcid.org/0000-0002-0736-9199, PMID:19152421]
synonym: "Hypoplastic antitragus" EXACT []
synonym: "Hypotrophic antitragus" EXACT []
synonym: "Small antitragus" EXACT []
xref: UMLS:C4021186
is_a: HP:0009896 ! Abnormal antitragus morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T01:59:04Z

[Term]
id: HP:0011252
name: Cryptotia
def: "Invagination of the superior part of the auricle under a fold of temporal skin." [PMID:19152421]
comment: There are associated anomalies of the upper antihelix and crura. The upper one-third of the auricle is primarily affected and there is an inferomedial displacement of the Helical Darwin tubercle. Two types are recognized. Type I: the antihelix and superior crus are reduced in size; type II: it is the antihelix and inferior crus that are affected.
subset: hposlim_core
synonym: "Buried ear" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Hidden ear" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:429967001
xref: UMLS:C2315717
is_a: HP:0000377 ! Abnormal pinna morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T02:12:10Z

[Term]
id: HP:0011253
name: Type I cryptotia
def: "A type of cryptotia associated with reduction in size of the antihelix and superior crus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Type 1 cryptotia" EXACT []
xref: UMLS:C4023442
is_a: HP:0011252 ! Cryptotia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T02:14:49Z

[Term]
id: HP:0011254
name: Type II cryptotia
def: "A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected." [https://orcid.org/0000-0002-0736-9199]
synonym: "Type 2 cryptotia" EXACT []
xref: UMLS:C4023441
is_a: HP:0011252 ! Cryptotia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T02:15:48Z

[Term]
id: HP:0011255
name: Absent crus of helix
def: "Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha." [PMID:19152421]
synonym: "Helix, crus, absent" EXACT []
xref: UMLS:C4021185
is_a: HP:0009895 ! Abnormality of the crus of the helix
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T05:50:59Z

[Term]
id: HP:0011256
name: Crus of helix connected to antihelix
def: "Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix." [PMID:19152421]
synonym: "Helix, crus, connected to antihelix" EXACT []
xref: UMLS:C4021184
is_a: HP:0009895 ! Abnormality of the crus of the helix
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T05:51:54Z

[Term]
id: HP:0011257
name: Serpiginous crus of helix
def: "Curving course of the crus of the helix, approaching or joining the antitragus." [PMID:19152421]
synonym: "Helix, crus, serpiginous" EXACT []
xref: UMLS:C4021183
is_a: HP:0009895 ! Abnormality of the crus of the helix
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T05:56:25Z

[Term]
id: HP:0011258
name: Tragal bridge of crus of helix
def: "The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix." [PMID:19152421]
synonym: "Helix, crus, tragal bridge" EXACT []
xref: UMLS:C4021182
is_a: HP:0009895 ! Abnormality of the crus of the helix
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T05:58:24Z

[Term]
id: HP:0011259
name: Expanded terminal portion of crus of helix
def: "Widening, rather than tapering, of the crus at its posterior border near the antihelix." [PMID:19152421]
synonym: "Helix, crus, expanded terminal portion" EXACT []
xref: UMLS:C4021181
is_a: HP:0009895 ! Abnormality of the crus of the helix
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T06:00:07Z

[Term]
id: HP:0011260
name: Darwin notch of helix
def: "Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix." [PMID:19152421]
synonym: "Helix, Darwin notch" EXACT []
xref: UMLS:C4021180
is_a: HP:0009902 ! Cleft helix
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T06:01:45Z

[Term]
id: HP:0011261
name: Darwin tubercle of helix
def: "Small expansion of the helical fold at the junction of the superior and descending portions of the helix." [PMID:19152421]
synonym: "Helix, Darwin tubercle" EXACT []
xref: UMLS:C4021179
is_a: HP:0011039 ! Abnormal helix morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T06:02:42Z

[Term]
id: HP:0011262
name: Crimped helix
def: "Linear, circumferential indentation in the convexity of the outer surface of the helix." [PMID:19152421]
comment: The crimp is usually found in the middle third of the descending helix. The helix has the appearance of having been pinched or flattened along its posterior margin. The crimp may distort the free margin of the helix.
synonym: "Helix, crimped" EXACT []
synonym: "Indented helix" EXACT []
xref: UMLS:C4021178
is_a: HP:0011039 ! Abnormal helix morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T06:19:33Z

[Term]
id: HP:0011263
name: Forward facing earlobe
def: "Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear." [https://orcid.org/0000-0002-0736-9199, PMID:19152421]
comment: The lobe should be viewed from the front. This feature is distinct from the situation where the entire ear is forward facing and prominent. The lobe normally lies more or less in the same plane as the remainder of the ear. This feature should be distinguished from Uplifted lobe.
synonym: "Forward facing earlobe" EXACT layperson []
synonym: "Lobe, forward facing" EXACT layperson []
xref: UMLS:C4021177
is_a: HP:0000363 ! Abnormal earlobe morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T06:50:34Z

[Term]
id: HP:0011264
name: Discontinuous ascending root of helix
def: "Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid." [PMID:19152421]
synonym: "Helix, discontinuous ascending root" EXACT []
xref: UMLS:C4021176
is_a: HP:0011039 ! Abnormal helix morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T07:31:00Z

[Term]
id: HP:0011265
name: Cleft earlobe
def: "Discontinuity in the convexity of the inferior margin of the lobe." [PMID:19152421]
comment: The cleft is often more visible if the lobe is pulled forward or when seen from behind. Tears acquired from earrings should be distinguished.
subset: hposlim_core
synonym: "Bifid earlobe" EXACT []
synonym: "Bifid lobe" EXACT []
synonym: "Cleft earlobe" EXACT layperson []
synonym: "Notched earlobe" EXACT []
synonym: "Notched lobe" EXACT []
xref: UMLS:C4023440
is_a: HP:0000363 ! Abnormal earlobe morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T07:39:52Z

[Term]
id: HP:0011266
name: Microtia, first degree
alt_id: HP:0000379
def: "Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean." [PMID:19152421]
synonym: "First-degree microtia" EXACT []
xref: UMLS:C4021175
is_a: HP:0008551 ! Microtia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T07:44:51Z

[Term]
id: HP:0011267
name: Microtia, third degree
def: "Presence of some auricular structures, but none of these structures conform to recognized ear components." [PMID:19152421]
comment: This malformation is commonly associated with atresia of the external canal, but that anomaly should be coded separately. Complete absence of the ear should be coded as Anotia.
synonym: "Abnormal shape/structure of ear" BROAD layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Third-degree microtia" EXACT []
xref: UMLS:C4021174
xref: UMLS:C4280331
is_a: HP:0008551 ! Microtia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T07:49:49Z

[Term]
id: HP:0011268
name: Absent tragus
def: "Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix." [PMID:19152421]
comment: This appears to be unusual in an otherwise normal ear, and is most often seen in microtia with atretic auditory meatus, but those findings should be coded separately.
subset: hposlim_core
xref: UMLS:C4023439
is_a: HP:0009913 ! Aplasia/Hypoplasia of the tragus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T07:55:39Z

[Term]
id: HP:0011269
name: Bifid tragus
def: "Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak." [PMID:19152421]
synonym: "Notched tragus" EXACT layperson []
synonym: "Tragus, bifid" EXACT []
xref: UMLS:C4021173
is_a: HP:0009912 ! Abnormal tragus morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T07:56:56Z

[Term]
id: HP:0011270
name: Duplicated tragus
def: "A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus." [PMID:19152421]
comment: It is unclear how often, or even whether, this feature which would represent a duplication of mandibular components, occurs. More common occurrences in this region would include preauricular tags and pretragial duplications of hyoid origin.
synonym: "Accessory tragus" EXACT []
synonym: "Tragus, duplicated" EXACT []
xref: UMLS:C4021172
is_a: HP:0009912 ! Abnormal tragus morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T07:58:04Z

[Term]
id: HP:0011271
name: Prominent tragus
def: "Increase posterolateral protrusion of the tragus." [PMID:19152421]
subset: hposlim_core
synonym: "Enlarged tragus" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Hyperplastic tragus" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Hypertrophic tragus" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Large tragus" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Tragus, prominent" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C4021171
is_a: HP:0009912 ! Abnormal tragus morphology
creation_date: 2011-12-18T07:59:22Z

[Term]
id: HP:0011272
name: Underdeveloped tragus
def: "Decreased posterolateral protrusion of the tragus." [PMID:19152421]
synonym: "Hypoplastic tragus" EXACT []
synonym: "Hypotrophic tragus" EXACT []
synonym: "Small tragus" EXACT []
xref: UMLS:C4013429
is_a: HP:0009913 ! Aplasia/Hypoplasia of the tragus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-18T08:01:33Z

[Term]
id: HP:0011273
name: Anisocytosis
def: "Abnormally increased variability in the size of erythrocytes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Unequal size of red blood cells" EXACT layperson [https://en.wikipedia.org/wiki/anisocytosis, https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:165475005
xref: SNOMEDCT_US:57241006
xref: UMLS:C0221278
is_a: HP:0001877 ! Abnormal erythrocyte morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-28T11:58:24Z

[Term]
id: HP:0011274
name: Recurrent mycobacterial infections
def: "Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection." [https://orcid.org/0000-0002-0736-9199]
comment: Mycobacteria represent a family of slowly growing bacteria, including M. tuberculosis, the agent of tuberculosis, M. leprae, the agent of leprosy, M. avium complex species, and others. Mycobacteria infection can be asymptomatic or not, and are typically difficult to treat with antibiotics.
xref: UMLS:C4023438
is_a: HP:0002718 ! Recurrent bacterial infections
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-28T12:11:54Z

[Term]
id: HP:0011275
name: Recurrent mycobacterium avium complex infections
def: "Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection." [https://orcid.org/0000-0002-0736-9199]
comment: Mycobacterium avium complex (MAC) is a group of species including M. avium, M. avium paratuberculosis, and others. Disseminated MAC infections can be seen associated with HIV infection. Pulmonary disease and cervical adenitis are other sequellae of MAC infection.
xref: UMLS:C1737260
is_a: HP:0011274 ! Recurrent mycobacterial infections
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-28T12:16:46Z

[Term]
id: HP:0011276
name: Vascular skin abnormality
synonym: "Skin vascular malformation" EXACT []
synonym: "Vascular abnormalities restricted to skin" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:11263005
xref: UMLS:C0162819
xref: UMLS:C1842892
is_a: HP:0002597 ! Abnormality of the vasculature
is_a: HP:0011354 ! Generalized abnormality of skin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-29T08:52:53Z

[Term]
id: HP:0011277
name: Abnormality of the urinary system physiology
xref: UMLS:C4023437
is_a: HP:0000079 ! Abnormality of the urinary system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-30T02:51:16Z

[Term]
id: HP:0011278
name: Intrapulmonary lobar sequestration
alt_id: HP:0010961
def: "A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree." [https://orcid.org/0000-0002-0736-9199, PMID:20610189]
comment: Intralobar sequestration (ILS) may be diagnosed on antenatal ultrasound screening. ILS can be asymptomatic in later life or can lead to signs and symptoms related to inadequate tracheobronchial drainage caused by the lesion of adjacent atelectatic lung.
synonym: "Intralobar sequestration" EXACT []
synonym: "Intrapulmonary sequestration" EXACT []
xref: UMLS:C4023436
is_a: HP:0100632 ! Pulmonary sequestration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-31T07:43:28Z

[Term]
id: HP:0011279
name: Abnormality of urine bicarbonate level
def: "An abnormal amount of hydrogencarbonate in the urine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of urine HCO3 concentration" EXACT abbreviation []
xref: UMLS:C4023435
is_a: HP:6000531 ! Abnormal urinary organic compound level
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-30T02:57:55Z

[Term]
id: HP:0011280
name: Abnormality of urine calcium concentration
def: "An abnormality of calcium concentration in the urine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of urine Ca concentration" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961]
synonym: "Abnormality of urine Ca2+ concentration" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961]
xref: UMLS:C4023434
is_a: HP:0012591 ! Abnormal urinary electrolyte concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-30T03:27:02Z

[Term]
id: HP:0011281
name: Abnormality of urine catecholamine level
def: "An abnormal amount of urinary catecholamine concentration." [https://orcid.org/0000-0002-0736-9199]
comment: Any anomaly in the urinary amount of catecholamines, including adrenaline, noradrenaline and L-dopamine.
xref: MP:0011478
xref: UMLS:C4023433
is_a: HP:0033354 ! Abnormal urine metabolite level
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2011-12-30T03:35:18Z

[Term]
id: HP:0011282
name: Abnormal hindbrain morphology
def: "An abnormality of the hindbrain, also known as the rhombencephalon." [https://orcid.org/0000-0002-0736-9199]
comment: The hindbrain consists of two main structures: The pons and the cerebellum.
synonym: "Abnormal shape of hindbrain" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of hindbrain morphology" EXACT []
synonym: "Abnormality of the hindbrain" EXACT []
xref: UMLS:C4021170
is_a: HP:0012443 ! Abnormal brain morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-01-01T01:22:36Z

[Term]
id: HP:0011283
name: Abnormal metencephalon morphology
def: "An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the metencephalon" EXACT []
xref: UMLS:C4023432
is_a: HP:0011282 ! Abnormal hindbrain morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-01-01T01:24:14Z

[Term]
id: HP:0011284
name: Short-segment aganglionic megacolon
def: "A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid." [https://orcid.org/0000-0002-0736-9199, PMID:17965226]
xref: UMLS:C4023431
is_a: HP:0002251 ! Aganglionic megacolon
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-01-01T02:59:57Z

[Term]
id: HP:0011285
name: Long-segment aganglionic megacolon
def: "A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023430
is_a: HP:0002251 ! Aganglionic megacolon
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-01-01T03:02:49Z

[Term]
id: HP:0011286
name: Total colonic aganglionosis
def: "A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:253780003
xref: SNOMEDCT_US:360441005
xref: UMLS:C0085758
is_a: HP:0002251 ! Aganglionic megacolon
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-01-01T03:03:46Z

[Term]
id: HP:0011287
name: EEG with occipital sharp slow waves
def: "EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023429
is_a: HP:0011195 ! EEG with focal sharp slow waves
is_a: HP:0033720 ! EEG with occipital epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-11T12:28:45Z

[Term]
id: HP:0011288
name: EEG with parietal sharp slow waves
def: "EEG with sharp slow waves in the parietal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023428
is_a: HP:0011195 ! EEG with focal sharp slow waves
is_a: HP:0033719 ! EEG with parietal epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-11T12:29:59Z

[Term]
id: HP:0011289
name: EEG with temporal sharp slow waves
def: "EEG with sharp slow waves in the temporal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023427
is_a: HP:0011195 ! EEG with focal sharp slow waves
is_a: HP:0033717 ! EEG with temporal epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-11T12:30:25Z

[Term]
id: HP:0011290
name: EEG with frontal sharp slow waves
def: "EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023426
is_a: HP:0011195 ! EEG with focal sharp slow waves
is_a: HP:0033716 ! EEG with frontal epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-11T12:30:41Z

[Term]
id: HP:0011291
name: EEG with central sharp slow waves
def: "EEG with sharp slow waves in the central region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023425
is_a: HP:0011195 ! EEG with focal sharp slow waves
is_a: HP:0033718 ! EEG with central epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-11T12:31:02Z

[Term]
id: HP:0011292
name: EEG with occipital sharp waves
def: "EEG with sharp waves in the occipital region, i.e., sharp transient waves of a duration between 80 and 200 msec." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C2206521
is_a: HP:0011196 ! EEG with focal sharp waves
is_a: HP:0033720 ! EEG with occipital epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-11T12:31:29Z

[Term]
id: HP:0011293
name: EEG with central sharp waves
def: "EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C2207327
is_a: HP:0011196 ! EEG with focal sharp waves
is_a: HP:0033718 ! EEG with central epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-11T12:32:48Z

[Term]
id: HP:0011294
name: EEG with frontal sharp waves
def: "EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C2206518
is_a: HP:0011196 ! EEG with focal sharp waves
is_a: HP:0033716 ! EEG with frontal epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-11T12:33:10Z

[Term]
id: HP:0011295
name: EEG with parietal sharp waves
def: "EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C2206520
is_a: HP:0011196 ! EEG with focal sharp waves
is_a: HP:0033719 ! EEG with parietal epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-11T12:33:29Z

[Term]
id: HP:0011296
name: EEG with temporal sharp waves
def: "EEG with sharp waves in the temporal region, i.e., sharp transient waves of a duration between 80 and 200 msec." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C2206519
is_a: HP:0011196 ! EEG with focal sharp waves
is_a: HP:0033717 ! EEG with temporal epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-11T12:33:47Z

[Term]
id: HP:0011297
name: Abnormal digit morphology
def: "A morphological abnormality of a digit, i.e., of a finger or toe." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of digit" EXACT []
synonym: "Abnormality of fingers or toes" EXACT layperson []
synonym: "Digital anomalies" EXACT []
xref: UMLS:C3550704
is_a: HP:0002813 ! Abnormal limb bone morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-11T07:16:22Z

[Term]
id: HP:0011298
name: Prominent digit pad
def: "A soft tissue prominence of the ventral aspects of the fingertips or toe tips." [PMID:19125433]
comment: The prominence of the finger or toe pads varies throughout life, being greater in neonates and dependent on the state of hydration. This term should not be used if the digit has clubbing. Note that the synonym "fetal fingertip pads" should not be interpreted to mean that the prominent pad necessarily was present in this individual since fetal life. We do not endorse the use of the term "Persistent fetal pads" as this term implies knowledge of the natural history of this finding, which may or may not be known.
synonym: "Prominent digit pad" EXACT layperson []
xref: UMLS:C4023424
is_a: HP:0011356 ! Regional abnormality of skin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-11T07:18:29Z

[Term]
id: HP:0011299
name: Partial absence of finger
def: "The absence of a phalangeal segment of a finger." [PMID:19125433]
comment: The part that is absent may be specified. The distal modifier specifies the loss of the distal phalanx; clinically this is defined by the absence of the nail. The proximal modifier specifies the loss of the proximal or middle phalanx with the nail still present and/or the radiographic finding of a remaining phalanx that is similar to a distal phalanx. It may be difficult to determine which phalanx is absent without x-rays and even then, there are circumstances where the missing bone may not be exactly identified (note that no attempt is made to distinguish missing middle from proximal phalanges). In this situation the location adjective will have to be removed. This finding is distinct from Short fingers.
subset: hposlim_core
synonym: "Partial absence of finger" EXACT layperson []
xref: UMLS:C4023423
is_a: HP:0005918 ! Abnormal finger phalanx morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-02-11T10:57:07Z

[Term]
id: HP:0011300
name: Broad fingertip
def: "Increased width of the distal segment of a finger." [PMID:19125433]
comment: This term should be reserved for use when the distal digit is significantly broader than the middle part. It should not be used if the digit has Clubbing or Macrodactyly or if the entire finger is broad. The distinction to the term Broad distal phalanx of finger is that this term is a clinical impression while Broad distal phalanx of finger refers to the objectively measured width of the distal phalane (bone), a radiological finding.
subset: hposlim_core
synonym: "Broad fingertip" EXACT layperson []
synonym: "Broad fingertips" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1968816
is_a: HP:0001211 ! Abnormal fingertip morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-02-11T11:18:08Z

[Term]
id: HP:0011301
name: Absent foot
def: "The total absence of the foot, with no bony elements distal to the tibia or fibula." [PMID:19125433]
subset: hposlim_core
synonym: "Absent foot" EXACT layperson []
synonym: "Aplasia of the foot" EXACT []
synonym: "Apodia" EXACT []
xref: SNOMEDCT_US:371197005
xref: UMLS:C0265624
is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet
is_a: HP:6000946 ! Transverse terminal lower limb defect
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-02-11T11:20:59Z

[Term]
id: HP:0011302
name: Long palm
alt_id: HP:0001502
def: "For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length." [PMID:19125433]
subset: hposlim_core
synonym: "Long palm" EXACT layperson []
xref: UMLS:C4023422
is_a: HP:0100871 ! Abnormal palm morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-02-12T10:20:56Z

[Term]
id: HP:0011303
name: Convex contour of sole
def: "The contour of the foot in lateral profile has a convex shape." [PMID:19125433]
comment: This term was established as the convex contour may occur without the prominent heel, which together comprise the bundled term Rocker-bottom foot.
xref: UMLS:C4023421
is_a: HP:0100872 ! Abnormality of the plantar skin of foot
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-02-12T11:06:12Z

[Term]
id: HP:0011304
name: Broad thumb
alt_id: HP:0001173
alt_id: HP:0001240
alt_id: HP:0004073
alt_id: HP:0009651
def: "Increased thumb width without increased dorso-ventral dimension." [PMID:19125433]
comment: Note that this term should not be used for thumbs that meet the definition for Macrodactyly.
subset: hposlim_core
synonym: "Broad phalanges of the thumb" EXACT []
synonym: "Broad thumb" EXACT layperson []
synonym: "Broad thumbs" EXACT layperson []
synonym: "Wide/broad thumb" EXACT layperson []
synonym: "Wide/broad thumb phalanges" EXACT []
xref: SNOMEDCT_US:249773003
xref: UMLS:C0426891
is_a: HP:0009602 ! Abnormality of thumb phalanx
is_a: HP:0009768 ! Broad phalanges of the hand
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-02-12T11:15:31Z

[Term]
id: HP:0011305
name: Partial absence of toe
def: "The absence of a phalangeal segment of a toe or hallux." [PMID:19125433]
comment: The part that is absent may be specified. The "distal" modifier specifies the loss of the distal phalanx; clinically this is defined by the absence of the nail. The "proximal" modifier specifies the loss of the proximal or middle phalanx with the nail still present. It may be difficult to know which phalanx is absent without X-rays and even then, the missing bone may not be identified (note no attempt is made to distinguish missing middle from proximal phalanges). In this situation the location adjective should be removed. Note that this finding is distinct from Short toes, (which are reduced in length but have the normal number of phalangeal segments). Partial absence of the hallux is an alternative term that may be used for the first toe.
synonym: "Hypophalangy of toes" EXACT []
synonym: "Partial absence of toe" EXACT layperson []
xref: UMLS:C4021169
is_a: HP:0010760 ! Absent toe
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-02-12T12:20:32Z

[Term]
id: HP:0011307
name: Splayed toes
def: "Divergence of digits along the anteroposterior axis (in the plane of the sole)." [PMID:19125433]
synonym: "Splayed toes" EXACT layperson []
xref: UMLS:C2117390
is_a: HP:0001780 ! Abnormal toe morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-02-12T12:38:36Z

[Term]
id: HP:0011308
name: Slender toe
alt_id: HP:0200091
def: "Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual." [PMID:19125433]
synonym: "Narrow toe" EXACT layperson []
synonym: "Slender toe" EXACT layperson []
xref: UMLS:C4021168
is_a: HP:0001780 ! Abnormal toe morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-02-12T12:39:51Z

[Term]
id: HP:0011309
name: Tapered toe
alt_id: HP:0008088
alt_id: HP:0200089
def: "The gradual reduction in girth of the toe from proximal to distal." [PMID:19125433]
synonym: "Tapered toe" EXACT layperson []
synonym: "Tapering toes" EXACT layperson []
xref: UMLS:C4021167
is_a: HP:0001780 ! Abnormal toe morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-02-12T12:41:30Z

[Term]
id: HP:0011310
name: Bridged palmar crease
def: "A crease that connects the proximal and distal transverse palmar creases." [PMID:19125433]
comment: The crease that connects the two transverse creases should itself be more in the transverse (antero-posterior) than longitudinal (proximo-distal) orientation.
synonym: "Bridged palm line" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Transitional palmar crease" EXACT []
xref: UMLS:C4021166
is_a: HP:0010490 ! Abnormality of the palmar creases
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-02-12T12:56:40Z

[Term]
id: HP:0011311
name: Sydney crease
def: "Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm." [PMID:19125433]
comment: The proximal transverse (five finger) crease starts on the radial side of the hand near the base of the index finger and extends toward the ulnar side of the palm, but does not reach the ulnar side. In this finding, the crease extends completely to the ulnar margin of the palm.
xref: UMLS:C4023420
is_a: HP:0010490 ! Abnormality of the palmar creases
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-02-12T12:58:13Z

[Term]
id: HP:0011312
name: Fused nails
def: "A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature." [PMID:19125433]
comment: The use of the word "fused" is not meant to imply that pathogenetically these nails were separate and merged. This is distinct from a split or cleaved nail, where the two parts of the nails share the same radius of curvature. The involved digits should be specified. It may be associated with underlying syndactylous digits, but these are coded separately.
synonym: "Fused nails" EXACT layperson []
xref: UMLS:C4023419
is_a: HP:0002164 ! Nail dysplasia
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-02-12T01:12:22Z

[Term]
id: HP:0011313
name: Narrow nail
alt_id: HP:0200076
def: "Decreased width of nail." [PMID:19125433]
synonym: "Narrow nail" EXACT layperson []
xref: UMLS:C4021829
is_a: HP:0002164 ! Nail dysplasia
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-02-12T01:33:34Z

[Term]
id: HP:0011314
name: Abnormal long bone morphology
alt_id: HP:0100713
alt_id: HP:0100714
alt_id: HP:0100715
def: "An abnormality of size or shape of the long bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal shape of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of long bone morphology" EXACT []
synonym: "Abnormality of the tubular bones" EXACT []
xref: UMLS:C4021165
is_a: HP:0011844 ! Abnormal appendicular skeleton morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-02-12T02:31:03Z

[Term]
id: HP:0011315
name: Unicoronal synostosis
def: "Synostosis affecting only one of the coronal sutures." [https://orcid.org/0000-0002-2972-5481]
synonym: "Unilateral coronal craniosynostosis" RELATED []
synonym: "Unilateral coronal suture craniosynostosis" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Unilateral coronal suture synostosis" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4020756
xref: UMLS:C4023418
is_a: HP:0004440 ! Coronal craniosynostosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-25T01:08:28Z

[Term]
id: HP:0011316
name: Left unicoronal synostosis
def: "Synostosis affecting only the left coronal suture." [https://orcid.org/0000-0002-2972-5481]
xref: UMLS:C4023417
is_a: HP:0011315 ! Unicoronal synostosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-25T01:10:32Z

[Term]
id: HP:0011317
name: Right unicoronal synostosis
def: "Unicoronal synostosis affecting only the right coronal suture." [https://orcid.org/0000-0002-2972-5481]
xref: UMLS:C4023416
is_a: HP:0011315 ! Unicoronal synostosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-25T01:11:21Z

[Term]
id: HP:0011318
name: Bicoronal synostosis
def: "Synostosis affecting the right and the left coronal suture." [https://orcid.org/0000-0002-2972-5481]
subset: hposlim_core
synonym: "Bilateral coronal craniosynostosis" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Bilateral coronal suture craniosynostosis" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Bilateral coronal suture synostosis" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4021164
is_a: HP:0004440 ! Coronal craniosynostosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-25T01:11:41Z

[Term]
id: HP:0011319
name: Bilambdoid synostosis
def: "Premature synostosis of both lambdoid sutures." [https://orcid.org/0000-0002-2972-5481]
subset: hposlim_core
synonym: "Bilateral lambdoid craniosynostosis" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Bilateral lambdoid suture synostosis" EXACT []
xref: UMLS:C4021163
is_a: HP:0004443 ! Lambdoidal craniosynostosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-25T01:12:22Z

[Term]
id: HP:0011320
name: Unilambdoid synostosis
def: "Premature synostosis of only one lambdoid suture." [https://orcid.org/0000-0002-2972-5481]
subset: hposlim_core
synonym: "Unilateral lambdoid craniosynostosis" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Unilateral lambdoid suture synostosis" EXACT []
xref: UMLS:C4021162
is_a: HP:0004443 ! Lambdoidal craniosynostosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-25T01:13:20Z

[Term]
id: HP:0011321
name: Left unilambdoid synostosis
def: "Premature synostosis of only the left lambdoid suture." [https://orcid.org/0000-0002-2972-5481]
xref: UMLS:C4023415
is_a: HP:0011320 ! Unilambdoid synostosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-25T01:13:46Z

[Term]
id: HP:0011322
name: Right unilambdoid synostosis
def: "Premature synostosis of only the right lambdoid suture." [https://orcid.org/0000-0002-2972-5481]
xref: UMLS:C4023414
is_a: HP:0011320 ! Unilambdoid synostosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-25T01:14:34Z

[Term]
id: HP:0011323
name: Cleft of chin
def: "Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin." [https://orcid.org/0000-0002-9602-2321]
synonym: "Cleft of chin" EXACT layperson []
synonym: "Midline defect of chin" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1849227
is_a: HP:0000306 ! Abnormality of the chin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-25T05:17:03Z

[Term]
id: HP:0011324
name: Multiple suture craniosynostosis
def: "Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified." [https://orcid.org/0000-0002-2972-5481]
comment: If possible, it is preferable to annotate the precise pattern of involvement of the cranial sutures involved in craniosynostosis. This term may be chosen if more information is not available.
synonym: "Multisutural craniosynostosis" EXACT []
xref: UMLS:C4021161
is_a: HP:0001363 ! Craniosynostosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-25T01:16:13Z

[Term]
id: HP:0011325
name: Pansynostosis
def: "Craniosynostosis of all calvarial sutures." [https://orcid.org/0000-0002-2972-5481]
synonym: "Sysnostosis of all cranial sutures" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4021827
is_a: HP:0011324 ! Multiple suture craniosynostosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-25T01:27:38Z

[Term]
id: HP:0011326
name: Anterior plagiocephaly
def: "Asymmetry of the anterior part of the skull." [https://orcid.org/0000-0002-2972-5481]
comment: Anterior plagiocephaly may have synostotic or non-synostotic causes.
synonym: "Anterior flat head syndrome" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Coronal synostosis" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformational anterior plagiocephaly" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformational frontal plagiocephaly" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Frontal plagiocephaly" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Positional anterior plagiocephaly" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Positional frontal plagiocephaly" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Unicoronal craniosynostosis" RELATED [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:254020001
xref: UMLS:C0432124
xref: UMLS:C4023413
xref: UMLS:C4280328
xref: UMLS:C4280329
xref: UMLS:C4280330
is_a: HP:0001357 ! Plagiocephaly
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-25T02:10:41Z

[Term]
id: HP:0011327
name: Posterior plagiocephaly
def: "Asymmetry of the posterior part of the skull." [https://orcid.org/0000-0002-2972-5481, PMID:10876272]
comment: Anterior plagiocephaly may have synostotic or non-synostotic causes.
synonym: "Deformational posterior plagiocephaly" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Occipital plagiocephaly" EXACT []
xref: UMLS:C4021160
is_a: HP:0001357 ! Plagiocephaly
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-25T02:11:33Z

[Term]
id: HP:0011328
name: Abnormal fontanelle morphology
def: "An abnormality of the fontanelle." [https://orcid.org/0000-0002-0736-9199, PMID:12825844]
comment: The fontanelles are the regions in an infant's calvaria that are covered by a thick membrane that normally ossify in the first two years of life.
subset: hposlim_core
synonym: "Anomaly of the fontanelles" RELATED []
xref: UMLS:C4020755
is_a: HP:0000235 ! Abnormal cranial suture/fontanelle morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-25T02:34:36Z

[Term]
id: HP:0011329
name: Abnormality of cranial sutures
def: "Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of cranial sutures" EXACT layperson []
synonym: "Abnormality of the bregma sutures" EXACT []
synonym: "Abnormality of the calvarium sutures" EXACT []
synonym: "Abnormality of the cranial sutures" EXACT []
synonym: "Abnormality of the skull suture" EXACT []
xref: UMLS:C4023412
is_a: HP:0000235 ! Abnormal cranial suture/fontanelle morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-25T03:33:56Z

[Term]
id: HP:0011330
name: Metopic synostosis
def: "Premature fusion of the metopic suture." [https://orcid.org/0000-0002-2972-5481]
subset: hposlim_core
synonym: "Metopic craniosynostosis" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Metopic suture craniosynostosis" EXACT []
xref: SNOMEDCT_US:109409003
xref: UMLS:C0432122
xref: UMLS:C1860819
is_a: HP:0005556 ! Abnormality of the metopic suture
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-25T03:52:01Z

[Term]
id: HP:0011331
name: Hemifacial atrophy
def: "Unilateral atrophy of facial tissues, including muscles, bones and skin." [https://orcid.org/0000-0002-2972-5481]
subset: hposlim_core
synonym: "Atrophy of half of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Atrophy of one side of the face" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Facial hemiatrophy" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:718224004
xref: SNOMEDCT_US:95834000
xref: UMLS:C0015458
is_a: HP:0000324 ! Facial asymmetry
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-25T05:04:56Z

[Term]
id: HP:0011332
name: Hemifacial hypoplasia
def: "Unilateral underdevelopment of the facial tissues, including muscles and bones." [https://orcid.org/0000-0002-2972-5481]
synonym: "Decrease in size of half of face" EXACT []
synonym: "Decrease in size of one side of the face" EXACT []
synonym: "Decreased size of half of the face" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of one side of the face" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Hemifacial microsomia" RELATED []
synonym: "Shrinking of half of face" EXACT []
synonym: "Shrinking of one side of the face" EXACT []
xref: SNOMEDCT_US:254025006
xref: UMLS:C3495417
xref: UMLS:C4023411
is_a: HP:0000324 ! Facial asymmetry
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-25T05:05:45Z

[Term]
id: HP:0011333
name: Asymmetric crying face
def: "Asymmetry observed in the face of a neonate or infant whose face appears symmetric at rest and asymmetric during crying as the mouth is pulled downward on one side while not moving on the other side." [https://orcid.org/0000-0003-2958-5076]
comment: Asymmetric crying facies is caused by underdevelopment of the depressor anguli oris muscle or compression of one of the branches of the facial nerve.
synonym: "Asymmetric crying face" EXACT layperson []
synonym: "Hypoplasia of depressor angula oris muscle" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Partial unilateral facial paresis" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:51409009
xref: UMLS:C0431406
xref: UMLS:C4280327
is_a: HP:0000324 ! Facial asymmetry
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-25T05:07:01Z

[Term]
id: HP:0011334
name: Facial shape deformation
synonym: "Distortion of facial shape" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Facial shape compression" EXACT []
synonym: "Facial shape deformation" EXACT layperson []
xref: UMLS:C4021159
is_a: HP:0001999 ! Abnormal facial shape
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-25T05:10:19Z

[Term]
id: HP:0011335
name: Frontal hirsutism
def: "Excessive amount of hair growth on forehead." [https://orcid.org/0000-0002-9602-2321]
synonym: "Hairy forehead" EXACT layperson []
synonym: "Hirsute forehead" EXACT []
xref: UMLS:C1839830
is_a: HP:0000290 ! Abnormal forehead morphology
is_a: HP:0009937 ! Facial hirsutism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-25T05:21:59Z

[Term]
id: HP:0011336
name: Bitemporal forceps marks
def: "Bilateral temporal scarlike defects, which are said to resemble forceps marks." [https://orcid.org/0000-0002-9602-2321, PMID:1401310]
comment: Congenital, bilateral, scarlike facial lesions have been reported under several titles, such as hereditary symmetric systemic aplastic nevi, congenital ectodermal dysplasia of the face, familial focal facial dermal dysplasia, bitemporal aplasia cutis congenita, and focal facial dermal dysplasia (FFDD). The findings are congenital, bilateral scarlike facial lesions in the preauricular or cheek areas. The lesions may present as slightly depressed hypopigmented scarlike oval plaques measuring about 1 cm and may have a surrounding rim of fine lanugo-like hair. Skin biopsy can reveal an atrophic epidermis with a thinned dermis devoid of adnexal structures. Elastic fibers are absent in the affected areas, as can be shown by Verhoeff-van Giesen staining.
synonym: "Bitemporal aplasia cutis congenita" EXACT []
synonym: "Congenital ectodermal dysplasia of the face" EXACT []
synonym: "Congenital, bilateral, scarlike facial lesions" EXACT []
synonym: "Focal facial dermal dysplasia" RELATED []
synonym: "Temporal skin defect" RELATED []
xref: UMLS:C4020754
xref: UMLS:C4023409
is_a: HP:0000606 ! Abnormality of the periorbital region
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-25T05:25:36Z

[Term]
id: HP:0011337
name: Abnormality of mouth size
synonym: "Abnormality of mouth size" EXACT layperson []
synonym: "Anomaly of mouth size" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023408
is_a: HP:0000163 ! Abnormal oral cavity morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-26T11:00:17Z

[Term]
id: HP:0011338
name: Abnormality of mouth shape
def: "An abnormality of the outline, configuration, or contour of the mouth." [HPO_CONTRIBUTOR:DDD_jhurst]
synonym: "Abnormality of mouth shape" EXACT layperson []
synonym: "Anomaly of mouth shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Unusual mouth shape" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: Fyler:4874
xref: UMLS:C4023407
is_a: HP:0000163 ! Abnormal oral cavity morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-26T01:05:23Z

[Term]
id: HP:0011339
name: Abnormality of upper lip vermillion
def: "An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the red part of the upper lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Anomaly of the upper lip vermillion" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the upper lip vermillion" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of the upper lip vermillion" NARROW [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023406
is_a: HP:0000177 ! Abnormal upper lip morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-26T01:32:28Z

[Term]
id: HP:0011340
name: Incomplete cleft of the upper lip
def: "Cleft of the upper lip that does not go all the way from the bottom of the upper lip until the nasal cavity." [https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-9602-2321]
comment: If the cleft lip is on only one side, use 'Incomplete unilateral cleft lip' (HP:5201000). This term was created to be used in association with a left (HP:0012835) or right (HP:0012834) modifier to annotate completeness of a cleft lip.
synonym: "Forme fruste unilateral cleft lip" EXACT []
synonym: "Incomplete cheiloschisis" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Incomplete cleft of the upper lip" EXACT layperson []
synonym: "Notched cleft of the upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Partial cleft of the upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4021158
is_a: HP:0000204 ! Cleft upper lip
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-26T01:55:36Z

[Term]
id: HP:0011341
name: Long upper lip
def: "Increased width of the upper lip." [HPO_CONTRIBUTOR:DDD_jhurst]
synonym: "Elongation of upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased height of upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased vertical length of upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Long upper lip" EXACT layperson []
xref: UMLS:C3151495
is_a: HP:0000177 ! Abnormal upper lip morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-26T01:58:08Z

[Term]
id: HP:0011342
name: Mild global developmental delay
def: "A mild delay in the achievement of motor or mental milestones in the domains of development of a child." [https://orcid.org/0000-0002-6410-0882]
synonym: "Global developmental delay, mild" EXACT []
synonym: "Psychomotor retardation, mild" RELATED [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C2229182
xref: UMLS:C4012968
is_a: HP:0001263 ! Global developmental delay
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-29T11:19:49Z

[Term]
id: HP:0011343
name: Moderate global developmental delay
def: "A moderate delay in the achievement of motor or mental milestones in the domains of development of a child." [https://orcid.org/0000-0002-6410-0882]
synonym: "Global developmental delay, moderate" EXACT []
synonym: "Psychomotor retardation, moderate" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C2237142
is_a: HP:0001263 ! Global developmental delay
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-29T11:20:28Z

[Term]
id: HP:0011344
name: Severe global developmental delay
def: "A severe delay in the achievement of motor or mental milestones in the domains of development of a child." [https://orcid.org/0000-0002-6410-0882]
synonym: "Global developmental delay, severe" EXACT []
synonym: "Severe psychomotor retardation" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1837397
xref: UMLS:C1854919
is_a: HP:0001263 ! Global developmental delay
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-02-29T11:20:45Z

[Term]
id: HP:0011345
name: Moderate expressive language delay
def: "A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts." [https://orcid.org/0000-0002-6410-0882]
xref: SNOMEDCT_US:62211000119103
xref: UMLS:C3532933
is_a: HP:0002474 ! Expressive language delay
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-01T08:45:49Z

[Term]
id: HP:0011346
name: Mild expressive language delay
def: "A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts." [https://orcid.org/0000-0002-6410-0882]
xref: SNOMEDCT_US:62231000119108
xref: UMLS:C3532934
is_a: HP:0002474 ! Expressive language delay
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-01T08:46:23Z

[Term]
id: HP:0011347
name: Abnormality of ocular abduction
def: "An abnormality involving the movement of the eye outwards." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023405
is_a: HP:0000496 ! Abnormality of eye movement
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-01T10:18:05Z

[Term]
id: HP:0011348
name: Abnormal sixth cranial nerve morphology
def: "Any structural abnormality of the abducens nerve." [https://orcid.org/0000-0002-0736-9199]
comment: The abducens nerve (also known as the sixth cranial nerve or cranioal nerve VI) controls the movement of the lateral rectus muscle of the eye, which moves the eyeball in the outward direction (towards the side of the head).
synonym: "Abnormal abducens nerve morphology" EXACT []
synonym: "Abnormality of the sixth cranial nerve" EXACT []
xref: UMLS:C4023404
is_a: HP:0001291 ! Abnormal cranial nerve morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-01T10:20:44Z

[Term]
id: HP:0011349
name: obsolete Abducens palsy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
is_obsolete: true
replaced_by: HP:0006897
creation_date: 2012-03-01T10:30:20Z

[Term]
id: HP:0011350
name: Mild receptive language delay
def: "A mild delay in the acquisition of the ability to understand the speech of others." [https://orcid.org/0000-0002-6410-0882]
xref: SNOMEDCT_US:89501000119108
xref: UMLS:C3532948
is_a: HP:0010863 ! Receptive language delay
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-01T10:52:40Z

[Term]
id: HP:0011351
name: Moderate receptive language delay
def: "A moderate delay in the acquisition of the ability to understand the speech of others." [https://orcid.org/0000-0002-6410-0882]
xref: SNOMEDCT_US:89381000119107
xref: UMLS:C3532946
is_a: HP:0010863 ! Receptive language delay
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-01T10:53:13Z

[Term]
id: HP:0011352
name: Severe receptive language delay
def: "A severe delay in the acquisition of the ability to understand the speech of others." [https://orcid.org/0000-0002-6410-0882]
xref: SNOMEDCT_US:89391000119105
xref: UMLS:C3532947
is_a: HP:0010863 ! Receptive language delay
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-01T10:53:30Z

[Term]
id: HP:0011353
name: Arterial intimal fibrosis
def: "Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries." [https://orcid.org/0000-0002-0736-9199]
synonym: "Intimal fibrosis" RELATED []
xref: UMLS:C4020753
xref: UMLS:C4023403
is_a: HP:0011004 ! Abnormal systemic arterial morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-01T01:05:59Z

[Term]
id: HP:0011354
name: Generalized abnormality of skin
def: "An abnormality of the skin that is not localized to any one particular region." [https://orcid.org/0000-0003-1773-4011]
synonym: "Generalised abnormality of skin" EXACT layperson []
synonym: "Generalized abnormality of skin" EXACT layperson []
xref: UMLS:C4021157
is_a: HP:0011121 ! Abnormal skin morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-01T01:55:07Z

[Term]
id: HP:0011355
name: Localized skin lesion
def: "A lesion of the skin that is located in a specific region rather than being generalized." [https://orcid.org/0000-0003-1773-4011]
synonym: "Localised skin lesion" EXACT uk_spelling []
synonym: "Localized skin lesion" EXACT layperson []
xref: UMLS:C0850826
is_a: HP:0011121 ! Abnormal skin morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-01T02:37:43Z

[Term]
id: HP:0011356
name: Regional abnormality of skin
def: "An abnormality of the skin that is restricted to a particular body region." [https://orcid.org/0000-0003-1773-4011]
xref: UMLS:C4023402
is_a: HP:0011121 ! Abnormal skin morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-01T02:39:14Z

[Term]
id: HP:0011357
name: obsolete Abnormality of hair density
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
is_obsolete: true
replaced_by: HP:0011362
creation_date: 2012-03-01T02:51:40Z

[Term]
id: HP:0011358
name: Generalized hypopigmentation of hair
def: "Reduced pigmentation of hair diffusely." [https://orcid.org/0000-0003-1773-4011]
synonym: "Generalised hypopigmentation of hair" EXACT uk_spelling []
xref: UMLS:C4023400
is_a: HP:0005599 ! Hypopigmentation of hair
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-01T03:32:59Z

[Term]
id: HP:0011359
name: Dry hair
alt_id: HP:0200077
alt_id: HP:0200079
alt_id: HP:0200080
def: "Hair that lacks the luster (shine or gleam) of normal hair." [https://orcid.org/0000-0003-1773-4011]
synonym: "Dry hair" EXACT layperson []
xref: SNOMEDCT_US:79395009
xref: UMLS:C0277960
is_a: HP:0010719 ! Abnormality of hair texture
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-01T04:24:09Z

[Term]
id: HP:0011360
name: Acquired abnormal hair pattern
def: "An abnormality of the distribution of hair growth that is acquired during the course of life." [https://orcid.org/0000-0003-1773-4011]
synonym: "Acquired abnormal hair pattern" EXACT layperson []
xref: UMLS:C4023399
is_a: HP:0010720 ! Abnormal hair pattern
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-01T08:36:23Z

[Term]
id: HP:0011361
name: Congenital abnormal hair pattern
def: "A congenital abnormality of the distribution of hair growth." [https://orcid.org/0000-0003-1773-4011]
synonym: "Abnormal hair pattern since birth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023398
is_a: HP:0010720 ! Abnormal hair pattern
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-01T08:39:51Z

[Term]
id: HP:0011362
name: Abnormal hair quantity
alt_id: HP:0002115
alt_id: HP:0011357
def: "An abnormal amount of hair." [https://orcid.org/0000-0003-1773-4011]
synonym: "Abnormal hair quantity" EXACT layperson []
synonym: "Abnormality of hair density" EXACT []
xref: UMLS:C4023397
xref: UMLS:C4023401
is_a: HP:0001595 ! Abnormal hair morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-01T08:46:57Z

[Term]
id: HP:0011363
name: Abnormality of hair growth rate
def: "Hair whose growth rate deviates from the norm." [https://orcid.org/0000-0003-1773-4011]
comment: Hair growth rate is normally about 1.25 centimeters per month.
synonym: "Abnormality of hair growth rate" EXACT layperson []
synonym: "Abnormality of pace of hair growth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of speed of hair growth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023396
is_a: HP:0040170 ! Abnormality of hair growth
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-01T09:46:36Z

[Term]
id: HP:0011364
name: White hair
def: "Hypopigmented hair that appears white." [https://orcid.org/0000-0003-1773-4011]
synonym: "White hair" EXACT layperson []
xref: SNOMEDCT_US:297993006
xref: UMLS:C0239804
is_a: HP:0011358 ! Generalized hypopigmentation of hair
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-01T09:50:48Z

[Term]
id: HP:0011365
name: Patchy hypopigmentation of hair
def: "Reduced pigmentation of hair in patches." [https://orcid.org/0000-0003-1773-4011]
xref: UMLS:C4023395
is_a: HP:0005599 ! Hypopigmentation of hair
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-01T09:52:58Z

[Term]
id: HP:0011367
name: Yellow nails
def: "Yellowish discoloration of the nails." [https://orcid.org/0000-0003-1773-4011]
synonym: "Yellow nails" EXACT layperson []
xref: SNOMEDCT_US:45342007
xref: UMLS:C1768507
is_a: HP:0100643 ! Abnormality of nail color
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-03T12:08:12Z

[Term]
id: HP:0011368
name: Epidermal thickening
alt_id: HP:0001035
def: "Thickening of the epidermal layer of the skin." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of keratinization" RELATED []
xref: UMLS:C0494876
xref: UMLS:C4020752
is_a: HP:0001072 ! Thickened skin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-03T12:25:18Z

[Term]
id: HP:0011369
name: Mongolian blue spot
def: "Congenital deep dermal melanosis in the sacral area." [https://orcid.org/0000-0003-1773-4011]
xref: SNOMEDCT_US:40467008
xref: UMLS:C0265985
is_a: HP:0001034 ! Hypermelanotic macule
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-03T03:34:48Z

[Term]
id: HP:0011370
name: Recurrent cutaneous fungal infections
def: "Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections." []
xref: UMLS:C4023394
is_a: HP:0001581 ! Recurrent skin infections
is_a: HP:0002841 ! Recurrent fungal infections
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-03T10:34:52Z

[Term]
id: HP:0011371
name: Recurrent viral skin infections
def: "Increased susceptibility to viral skin infections, as manifested by recurrent episodes of viral skin infections." []
synonym: "Recurrent viral skin infections" EXACT layperson []
xref: UMLS:C4023393
is_a: HP:0001581 ! Recurrent skin infections
is_a: HP:0004429 ! Recurrent viral infections
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-03T10:36:20Z

[Term]
id: HP:0011372
name: Aplasia of the inner ear
def: "Absence of the inner ear due to a developmental defect." [HPO_CONTRIBUTOR:DDD_dfitzpatrick]
comment: Aplasia of the inner ear is usually diagnosed on MR or CT imaging.
synonym: "Absent inner ear" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Aplasia of the labyrinth" EXACT []
synonym: "Labyrinthine aplasia" EXACT []
synonym: "Michel deformity" EXACT []
xref: SNOMEDCT_US:71973003
xref: UMLS:C0266604
is_a: HP:0008774 ! Aplasia/Hypoplasia of the inner ear
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-07T08:23:52Z

[Term]
id: HP:0011373
name: Incomplete partition of the cochlea
def: "Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023392
is_a: HP:0008554 ! Cochlear malformation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-07T08:24:55Z

[Term]
id: HP:0011374
name: Incomplete partition of the cochlea type I
def: "Incomplete partition I is also known as cystic cochleovestibular malformation, where the cochlea has no bony modiolus, resulting in an empty cystic cochlea. This is accompanied by a dilated cystic vestibule with developmental arrest at the fifth week of gestation." [HPO_CONTRIBUTOR:DDD_mbitner-glidicz, PMID:21849370]
xref: UMLS:C4023391
is_a: HP:0011373 ! Incomplete partition of the cochlea
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-07T08:26:25Z

[Term]
id: HP:0011375
name: Cochlear aplasia
def: "Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect." [HPO_CONTRIBUTOR:dfitzpatrick]
synonym: "Absent cochlea" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023390
is_a: HP:0011395 ! Aplasia/Hypoplasia of the cochlea
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-07T08:31:27Z

[Term]
id: HP:0011376
name: Abnormal morphology of the vestibule of the inner ear
def: "A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals." [HPO_CONTRIBUTOR:DDD_mbitner-glidicz]
comment: The vestibular system consists of five distinct components, three semicircular canals that are sensitive to angular acceleration and two otolith organs that are sensitive to linear acceleration.
synonym: "Morphological abnormality of the vestibule of the inner ear" EXACT []
synonym: "Vestibular abnormality" EXACT []
xref: UMLS:C0542259
is_a: HP:0011390 ! Abnormal inner ear morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-07T08:35:08Z

[Term]
id: HP:0011377
name: Aplasia of the vestibule
def: "Complete absence of the vestibule of the inner ear." [HPO_CONTRIBUTOR:DDD_dfitzpatrick]
synonym: "Absent vestibule" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023389
is_a: HP:0011376 ! Abnormal morphology of the vestibule of the inner ear
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-07T08:37:27Z

[Term]
id: HP:0011378
name: Hypoplasia of the vestibule of the inner ear
def: "Underdevelopment of the vestibule of the inner ear." [HPO_CONTRIBUTOR:DDD_mbitner-glidicz]
xref: UMLS:C4023388
is_a: HP:0011376 ! Abnormal morphology of the vestibule of the inner ear
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-09T07:06:20Z

[Term]
id: HP:0011379
name: Dilated vestibule of the inner ear
def: "Dilatation of the vestibule of the inner ear." [HPO_CONTRIBUTOR:DDD_mbitner-glidicz]
xref: UMLS:C4023387
is_a: HP:0011376 ! Abnormal morphology of the vestibule of the inner ear
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-09T07:07:38Z

[Term]
id: HP:0011380
name: Abnormal semicircular canal morphology
def: "An abnormality of the morphology of the semicircular canal." [HPO_CONTRIBUTOR:DDD_dfitzpatrick]
synonym: "Morphological abnormality of the semicircular canal" EXACT []
xref: UMLS:C4023386
is_a: HP:0011376 ! Abnormal morphology of the vestibule of the inner ear
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-09T07:12:21Z

[Term]
id: HP:0011381
name: Aplasia of the semicircular canal
def: "Absence of the semicircular canal." [HPO_CONTRIBUTOR:DDD_dfitzpatrick]
synonym: "Absent semicircular canal" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023385
is_a: HP:0011380 ! Abnormal semicircular canal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-09T07:14:57Z

[Term]
id: HP:0011382
name: Hypoplasia of the semicircular canal
def: "Underdevelopment of the semicircular canal." [HPO_CONTRIBUTOR:DDD_dfitzpatrick]
synonym: "Hypoplasia of the semicircular canals" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Small semicircular canal" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C3552156
is_a: HP:0011380 ! Abnormal semicircular canal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-09T07:15:47Z

[Term]
id: HP:0011383
name: Enlarged semicircular canal
def: "Increased size of the semicircular canal." [HPO_CONTRIBUTOR:DDD_dfitzpatrick]
synonym: "Dilated semicircular canal" EXACT []
xref: UMLS:C4021156
is_a: HP:0011380 ! Abnormal semicircular canal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-09T07:16:58Z

[Term]
id: HP:0011384
name: Abnormality of the internal auditory canal
def: "An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse." [HPO_CONTRIBUTOR:DDD_mbitner-glidicz]
synonym: "Abnormality of the internal acoustic meatus" EXACT []
xref: UMLS:C4021155
is_a: HP:0011390 ! Abnormal inner ear morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-09T07:26:47Z

[Term]
id: HP:0011385
name: Absent internal auditory canal
def: "Aplasia of the internal auditory canal." [HPO_CONTRIBUTOR:DDD_dfitzpatrick]
xref: UMLS:C4023384
is_a: HP:0011384 ! Abnormality of the internal auditory canal
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-09T07:33:46Z

[Term]
id: HP:0011386
name: Narrow internal auditory canal
def: "Reduction in diameter of the internal auditory canal." [HPO_CONTRIBUTOR:DDD_dfitzpatrick]
xref: UMLS:C4023383
is_a: HP:0011384 ! Abnormality of the internal auditory canal
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-09T07:35:00Z

[Term]
id: HP:0011387
name: Enlarged vestibular aqueduct
def: "Increased size of the vestibular aqueduct." [HPO_CONTRIBUTOR:DDD_mbitner-glidicz]
comment: Enlarged vestibular aqueduct is commonly seen in Pendred syndrome.
synonym: "Dilated vestibular aqueduct" EXACT []
synonym: "Widened vestibular aqueduct" EXACT []
xref: UMLS:C1863752
is_a: HP:0011376 ! Abnormal morphology of the vestibule of the inner ear
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-09T07:38:34Z

[Term]
id: HP:0011388
name: Enlarged cochlear aqueduct
def: "Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular." [HPO_CONTRIBUTOR:DDD_dfitzpatrick]
comment: The cochlear aqueduct surrounds the perilymphatic (periotic duct). Enlargement of the cochlear aqueduct may be seen in POU3F4 X-linked deafness with Gusher.
synonym: "Dilated cochlear aqueduct" EXACT []
xref: UMLS:C4021154
is_a: HP:0000375 ! Abnormal cochlea morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-09T07:41:47Z

[Term]
id: HP:0011389
name: Functional abnormality of the inner ear
def: "An abnormality of the function of the inner ear." [HPO_CONTRIBUTOR:DDD_dfitzpatrick]
comment: The inner ear comprises the cochlea, three semicircular canals and the vestibule (labyrinth), and is directly responsible for hearing. Additionally, the vestibule and semicircular canals function to maintain balance or equilibrium.
synonym: "Functional abnormality of the inner ear" EXACT layperson []
xref: UMLS:C4023382
is_a: HP:0031704 ! Abnormal ear physiology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-03-09T04:58:30Z

[Term]
id: HP:0011390
name: Abnormal inner ear morphology
def: "A structural anomaly of the internal part of the ear." [https://orcid.org/0000-0002-0736-9199]
comment: The inner ear contains the cochlea and the semicircular canals.
synonym: "Morphological abnormality of the inner ear" EXACT []
xref: UMLS:C4023381
is_a: HP:0000359 ! Abnormality of the inner ear
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-03-09T04:59:24Z

[Term]
id: HP:0011391
name: Abnormal inner ear nerve morphology
synonym: "Morphological abnormality of the nerves of the inner ear" EXACT []
xref: UMLS:C4023380
is_a: HP:0011390 ! Abnormal inner ear morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-03-09T05:03:30Z

[Term]
id: HP:0011392
name: Abnormality of the vestibular nerve
xref: UMLS:C4023379
is_a: HP:0011391 ! Abnormal inner ear nerve morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-03-09T05:03:47Z

[Term]
id: HP:0011393
name: Aplasia of the vestibular nerve.
def: "Absence of the vestibular nerve" [HPO_CONTRIBUTOR:DDD_mbitner-glidicz]
comment: May be seen in CHARGE syndrome.
synonym: "Absent cranial nerve viii" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent the eighth cranial nerve" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent vestribular nerve" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Aplasia of cranial nerve VIII" RELATED []
synonym: "Aplasia of the eighth cranial nerve" EXACT []
xref: UMLS:C4020751
xref: UMLS:C4021153
is_a: HP:0011392 ! Abnormality of the vestibular nerve
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-03-09T05:08:14Z

[Term]
id: HP:0011394
name: Hypoplasia of the vestibular nerve
def: "Underdevelopment of the vestibular nerve." [HPO_CONTRIBUTOR:DDD_dfitzpatrick]
synonym: "Hypoplasia of cranial nerve VIII" RELATED []
synonym: "Hypoplasia of the eighth cranial nerve" EXACT []
synonym: "Thin vestibular nerve" EXACT []
xref: UMLS:C4020750
is_a: HP:0011392 ! Abnormality of the vestibular nerve
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-03-09T05:14:35Z

[Term]
id: HP:0011395
name: Aplasia/Hypoplasia of the cochlea
def: "Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small cochlea" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped cochlea" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023378
is_a: HP:0000375 ! Abnormal cochlea morphology
is_a: HP:0008774 ! Aplasia/Hypoplasia of the inner ear
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-03-09T05:37:50Z

[Term]
id: HP:0011396
name: Abnormality of the cochlear nerve
def: "Any anomaly of the cohclear nerve, which is the part of the vestibulocochlear nerve that is responsible for transmitting auditory signals from the inner ear to the cochlear nuclei within the brainstem and ultimately to the primary auditory cortex within the temporal lobe." [PMID:30726044]
xref: UMLS:C4023377
is_a: HP:0011391 ! Abnormal inner ear nerve morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-03-09T05:39:04Z

[Term]
id: HP:0011397
name: Abnormality of the dorsal column of the spinal cord
def: "An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus." [https://orcid.org/0000-0002-0736-9199]
comment: The dorsal column represents an ascending pathway mediating well-localized fine touch and conscious proprioception.
xref: UMLS:C4023376
is_a: HP:0002143 ! Abnormal spinal cord morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-12T07:39:12Z

[Term]
id: HP:0011398
name: obsolete Central hypotonia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
is_obsolete: true
replaced_by: HP:0001252
creation_date: 2012-03-12T04:39:51Z

[Term]
id: HP:0011399
name: Tibialis anterior muscle atrophy
def: "Wasting of the tibialis anterior muscle." [https://orcid.org/0000-0002-0736-9199]
comment: The tibialis anterior muscle is located in the front of the lower leg. The shin may appear prominent because of atrophy of the tibialis anterior muscle (sharp shin sign).
synonym: "Sharp shin sign" EXACT []
synonym: "Tibialis anterior amyotrophy" EXACT []
synonym: "Tibialis muscle degeneration" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023375
is_a: HP:0008944 ! Distal lower limb amyotrophy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-12T06:15:40Z

[Term]
id: HP:0011400
name: Abnormal CNS myelination
alt_id: HP:0002520
alt_id: HP:0004335
def: "An abnormality of myelination of nerves in the central nervous system." [https://orcid.org/0000-0002-9102-5232]
comment: In the CNS, myelin is the product of oligodendrocytes (and not of Schwann cells, as in the PNS). This term refers to an abnormality of the process in which myelin sheaths are formed and maintained around neurons or the result of such an abnormality.
synonym: "Abnormal formation of myelin sheaths" EXACT []
xref: UMLS:C4021152
is_a: HP:0002011 ! Morphological central nervous system abnormality
is_a: HP:0012447 ! Abnormal myelination
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-12T07:24:42Z

[Term]
id: HP:0011401
name: Delayed peripheral myelination
def: "Delayed myelination in the peripheral nervous system." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023374
is_a: HP:0003130 ! Abnormal peripheral myelination
is_a: HP:0012448 ! Delayed myelination
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-12T08:08:41Z

[Term]
id: HP:0011402
name: Demyelinating sensory neuropathy
def: "Demyelination of peripheral sensory nerves." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023373
is_a: HP:0007108 ! Demyelinating peripheral neuropathy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-12T08:28:12Z

[Term]
id: HP:0011403
name: Abnormal umbilical cord blood vessel morphology
synonym: "Abnormal umbilical cord blood vessels" EXACT []
xref: UMLS:C4023372
is_a: HP:0010881 ! Abnormality of the umbilical cord
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-15T11:05:13Z

[Term]
id: HP:0011404
name: Lethal short-trunk short stature
def: "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth." [https://orcid.org/0000-0002-0736-9199]
synonym: "Lethal short-trunk dwarfism" EXACT []
xref: UMLS:C4021151
is_a: HP:0003521 ! Disproportionate short-trunk short stature
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-15T09:38:44Z

[Term]
id: HP:0011405
name: Childhood onset short-limb short stature
alt_id: HP:0003523
synonym: "Short-limb dwarfism identifiable during childhood" EXACT []
xref: UMLS:C1867487
is_a: HP:0008873 ! Disproportionate short-limb short stature
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-15T09:44:56Z

[Term]
id: HP:0011406
name: Infancy onset short-trunk short stature
alt_id: HP:0008851
def: "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy." [https://orcid.org/0000-0002-0736-9199]
synonym: "Short-trunk dwarfism, identifiable in infancy" EXACT []
xref: UMLS:C1846061
is_a: HP:0003521 ! Disproportionate short-trunk short stature
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-15T09:45:48Z

[Term]
id: HP:0011407
name: Proportionate tall stature
xref: UMLS:C4023371
is_a: HP:0000098 ! Tall stature
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-15T09:47:20Z

[Term]
id: HP:0011408
name: Moderate intrauterine growth retardation
def: "Intrauterine growth retardation that is at least 3 standard deviations (SD) below average, but not as low as 4 SD, corrected for sex and gestational age." [https://orcid.org/0000-0002-6410-0882]
xref: UMLS:C4023370
is_a: HP:0001511 ! Intrauterine growth retardation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-15T09:52:50Z

[Term]
id: HP:0011409
name: Abnormal placental membrane morphology
def: "Structural anomaly of the fetal membranes (also known as the amniochorionic or placental membranes), which comprise a vital intrauterine compartment, where they perform mechanical, immune, and endocrine functions to promote growth of the fetus and protection from environmental adversity. Amniochorionic membranes anatomically consist of a single layer of cuboidal amnion epithelial cells, chorionic trophoblasts, and scattered fibroblasts connected by a layer of type IV collagen-rich extracellular matrix." [PMID:28939208]
synonym: "Abnormality of placental membranes" EXACT []
xref: UMLS:C4023369
is_a: HP:0001194 ! Abnormalities of placenta or umbilical cord
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-15T11:07:01Z

[Term]
id: HP:0011410
name: Caesarean section
def: "Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy)." []
synonym: "Caesarean section" EXACT layperson []
xref: SNOMEDCT_US:200144004
xref: UMLS:C1384674
is_a: HP:0001787 ! Abnormal delivery
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-15T09:58:01Z

[Term]
id: HP:0011411
name: Forceps delivery
synonym: "Forceps delivery" EXACT layperson []
xref: UMLS:C0341808
is_a: HP:0001787 ! Abnormal delivery
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-15T09:58:47Z

[Term]
id: HP:0011412
name: Ventouse delivery
def: "Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labor has not progressed adequately." [https://orcid.org/0000-0002-6410-0882]
synonym: "Vacuum extraction" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Vacuum-assisted vaginal delivery" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:10761101000119105
xref: SNOMEDCT_US:61586001
xref: UMLS:C0042225
xref: UMLS:C1456852
xref: UMLS:C2825567
is_a: HP:0001787 ! Abnormal delivery
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-15T09:59:31Z

[Term]
id: HP:0011413
name: Shoulder dystocia
def: "Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex." [PMID:15086043]
comment: Adelivery in which additional maneuvers are required to deliver the fetus after normal gentle downward traction has failed.
xref: SNOMEDCT_US:89700002
xref: UMLS:C0269825
is_a: HP:0001787 ! Abnormal delivery
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-15T10:01:02Z

[Term]
id: HP:0011414
name: Hydropic placenta
def: "An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement." [https://orcid.org/0000-0002-6410-0882]
synonym: "Hydrops of the placenta" EXACT []
xref: SNOMEDCT_US:75094005
xref: UMLS:C0270254
is_a: HP:0006267 ! Large placenta
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-15T10:07:47Z

[Term]
id: HP:0011415
name: Calcified placenta
synonym: "Placental calcification" EXACT []
xref: SNOMEDCT_US:249174002
xref: UMLS:C0426234
is_a: HP:0100767 ! Abnormal placenta morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-15T10:10:35Z

[Term]
id: HP:0011416
name: Placental infarction
synonym: "Placental thromboembolism" EXACT []
xref: SNOMEDCT_US:268585006
xref: UMLS:C0554393
is_a: HP:0100767 ! Abnormal placenta morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-15T10:11:39Z

[Term]
id: HP:0011417
name: Long umbilical cord
def: "Increased length of the umbilical cord." [https://orcid.org/0000-0002-6410-0882]
synonym: "Long umbilical cord" EXACT layperson []
xref: SNOMEDCT_US:237261008
xref: UMLS:C0405028
is_a: HP:0010881 ! Abnormality of the umbilical cord
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-15T10:12:55Z

[Term]
id: HP:0011418
name: Abnormal insertion of umbilical cord
def: "Anomalous location of the insertion of umbilical cord in the placenta. Normally, the insertion is at least two centimers distant from the edge of the placenta." []
xref: SNOMEDCT_US:79668009
xref: UMLS:C0269852
is_a: HP:0010881 ! Abnormality of the umbilical cord
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-15T10:15:01Z

[Term]
id: HP:0011419
name: Placental abruption
def: "Separation of the placenta from the uterus wall before delivery." [https://orcid.org/0000-0002-6410-0882]
synonym: "Abruptio placentae" EXACT []
xref: SNOMEDCT_US:405736009
xref: SNOMEDCT_US:415105001
xref: UMLS:C0000832
is_a: HP:0100767 ! Abnormal placenta morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-15T11:08:18Z

[Term]
id: HP:0011420
name: Age of death
def: "The age group when the cessation of life happens." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1546180
is_a: HP:0040006 ! Mortality/Aging

[Term]
id: HP:0011421
name: Death in adolescence
def: "Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 16 years)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Death in adolescence" EXACT layperson []
xref: UMLS:C4023368
is_a: HP:0011420 ! Age of death
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-16T06:38:44Z

[Term]
id: HP:0011422
name: Abnormal blood chloride concentration
def: "An abnormality of chloride homeostasis or concentration in the body." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal blood Cl concentration" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961]
synonym: "Abnormal blood Cl- concentration" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961]
synonym: "Abnormality of chloride homeostasis" EXACT []
xref: UMLS:C4023367
is_a: HP:0003111 ! Abnormal blood ion concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-16T06:09:15Z

[Term]
id: HP:0011423
name: Hyperchloremia
def: "An abnormally increased chloride concentration in the blood." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:74450001
xref: UMLS:C0085679
is_a: HP:0011422 ! Abnormal blood chloride concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-16T06:09:40Z

[Term]
id: HP:0011424
name: Increased serum zinc
def: "An increased concentration of zinc in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hyperzincemia" EXACT []
xref: UMLS:C0854520
xref: UMLS:C0856208
is_a: HP:0008277 ! Abnormal blood zinc concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-17T08:54:44Z

[Term]
id: HP:0011425
name: Fetal ultrasound soft marker
def: "An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders." [PMID:16100637]
comment: The screening ultrasound at 16 to 20 weeks should evaluate 8 markers, 5 of which (thickened nuchal fold, echogenic bowel, mild ventriculomegaly, echogenic focus in the heart, and choroid plexus cyst) are associated with an increased risk of fetal aneuploidy, and in some cases with nonchromosomal problems, while 3 (single umbilical artery, enlarged cisterna magna, and pyelectasis) are only associated with an increased risk of nonchromosomal abnormalities when seen in isolation (PMID:16100637).
synonym: "Foetal ultrasound soft marker" EXACT uk_spelling []
xref: UMLS:C4023366
is_a: HP:0034058 ! Abnormal fetal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-17T04:26:01Z

[Term]
id: HP:0011426
name: Fetal choroid plexus cysts
def: "Fetal choroid plexus cysts (CPCs) are sonographically discrete, small cysts found in the choroid plexus within the lateral cerebral ventricles of the developing fetus at 14 to 24 weeks gestation. Imaging of the choroid plexus is performed in the transverse plane of the fetal head at the same level that the lateral cerebral ventricle is evaluated. The choroid plexus should be inspected bilaterally for the presence of cysts. The size of CPCs is not of clinical relevance (PMID:16100637)." [https://orcid.org/0000-0002-6410-0882, PMID:16100637, PMID:16809660]
comment: There is agreement that ultrasound characteristics of CPC, such as bilaterality, size, number, complexity, and resolution, are not related to the risk of aneuploidy. However, cysts with diameters less than 5 mm may not be linked with trisomy and large cysts in excess of 10 mm may impart a higher risk.
synonym: "Foetal choroid plexus cysts" EXACT uk_spelling []
xref: SNOMEDCT_US:462165005
xref: UMLS:C3532166
is_a: HP:0011425 ! Fetal ultrasound soft marker
is_a: HP:0034206 ! Abnormal fetal central nervous system morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-17T06:59:50Z

[Term]
id: HP:0011427
name: Enlarged fetal cisterna magna
def: "The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vermis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (PMID:16100637)." [https://orcid.org/0000-0002-6410-0882, PMID:16100637]
synonym: "Enlarged foetal cisterna magna" EXACT uk_spelling []
xref: UMLS:C4023365
is_a: HP:0011425 ! Fetal ultrasound soft marker
is_a: HP:0034206 ! Abnormal fetal central nervous system morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-17T07:03:07Z

[Term]
id: HP:0011428
name: Short fetal femur length
def: "A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637)." [https://orcid.org/0000-0002-0736-9199, PMID:16100637]
synonym: "Short fetal thigh bone length" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Short foetal femur length" EXACT uk_spelling []
synonym: "Short foetal thigh bone length" EXACT uk_spelling []
xref: UMLS:C0743924
is_a: HP:0011425 ! Fetal ultrasound soft marker
is_a: HP:0025662 ! Abnormal fetal skeletal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-17T07:05:40Z

[Term]
id: HP:0011429
name: Short fetal humerus length
def: "A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637)." [https://orcid.org/0000-0002-0736-9199, PMID:16100637]
synonym: "Short fetal long bone in upper arm length" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Short foetal humerus length" EXACT uk_spelling []
synonym: "Short foetal long bone in upper arm length" EXACT uk_spelling []
xref: UMLS:C4023364
is_a: HP:0011425 ! Fetal ultrasound soft marker
is_a: HP:0025662 ! Abnormal fetal skeletal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-17T07:07:05Z

[Term]
id: HP:0011430
name: Hypoplasia of fetal nasal bone
def: "On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (PMID:16100637)." [https://orcid.org/0000-0002-0736-9199, PMID:16100637]
synonym: "Hypoplasia of foetal nasal bone" EXACT uk_spelling []
synonym: "Underdeveloped fetal nose bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Underdeveloped foetal nose bone" EXACT uk_spelling []
xref: UMLS:C4023363
is_a: HP:0011425 ! Fetal ultrasound soft marker
is_a: HP:0025662 ! Abnormal fetal skeletal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-17T07:08:30Z

[Term]
id: HP:0011431
name: Fetal fifth finger clinodactyly
def: "Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (PMID:16100637)." [https://orcid.org/0000-0002-0736-9199, PMID:16100637]
synonym: "Fetal little finger curvature" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Fetal pinkie finger curvature" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Fetal pinky finger curvature" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Foetal fifth finger clinodactyly" EXACT uk_spelling []
synonym: "Foetal little finger curvature" BROAD uk_spelling []
synonym: "Foetal pinkie finger curvature" BROAD uk_spelling []
synonym: "Foetal pinky finger curvature" BROAD uk_spelling []
xref: UMLS:C4023362
xref: UMLS:C4280326
is_a: HP:0011425 ! Fetal ultrasound soft marker
is_a: HP:0025662 ! Abnormal fetal skeletal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-17T07:11:26Z

[Term]
id: HP:0011432
name: Elevated maternal circulating alpha-fetoprotein concentration
alt_id: HP:0005984
def: "Increase in the levels of maternal serum alpha-fetoprotein levels during pregnancy." [PMID:32039804]
comment: Increased levels of maternal serum alpha-fetoprotein is often part of the triple (AFP, Estriol, and human chorionic gonadotropin) or quadruple screening tests (AFP, estriol, human chorionic gonadotropin and Inhibin A) for congenital birth defects. It can be seen in fetal neural tube defects (NTD), abdominal wall defects, congenital renal disease, esophageal atresia, other fetal distress situations (eg, threatened abortion and fetal demise), multiple pregnancy, placental chorioangioma and placental lakes and other fetal and maternal conditions. Association with various adverse pregnancy outcomes reported. Usually assessed in second trimester and values above 2.5 MoM considered as significantly increased. For NTD, a screen-negative result indicates that the calculated alpha-fetoprotein (AFP) multiple of the median (MoM) falls below the established cutoff of 2.50 MoM. A negative screen does not guarantee the absence of neural tube defects. A screen-positive result indicates that the calculated AFP MoM is 2.50 or greater and may indicate an increased risk for open NTD. The actual risk depends on the level of AFP and the individual's pretest risk of having a child with NTD based on family history, geographical location, maternal conditions such as diabetes and epilepsy, and use of folate prior to conception. A screen-positive result does not infer a definitive diagnosis of a NTD but indicates that further evaluation should be considered. Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome.
synonym: "Elevated maternal serum alpha-fetoprotein" EXACT []
synonym: "High maternal circulating alpha-fetoprotein concentration" EXACT []
synonym: "High maternal serum alpha-fetoprotein" EXACT []
synonym: "High maternal serum alpha-fetoprotein MoM" EXACT []
synonym: "High MSAFP MoM" EXACT []
synonym: "Increased maternal serum alpha-fetoprotein level" EXACT []
synonym: "MSAFP MoM>2.5" EXACT []
xref: UMLS:C4023361
is_a: HP:0011436 ! Abnormal maternal serum screening
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-17T07:45:07Z

[Term]
id: HP:0011433
name: High maternal circulating chorionic gonadotropin concentration
def: "An abnormally high concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age." [https://orcid.org/0000-0002-6410-0882, PMID:2447576]
comment: Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome.
synonym: "High maternal serum chorionic gonadotropin" EXACT []
synonym: "High maternal serum hCG" EXACT []
xref: UMLS:C4021150
is_a: HP:0011436 ! Abnormal maternal serum screening
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-17T07:47:39Z

[Term]
id: HP:0011434
name: Low maternal circulating chorionic gonadotropin concentration
def: "An abnormally low concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age." [https://orcid.org/0000-0002-6410-0882, PMID:2447576]
comment: Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome.
synonym: "Low maternal serum chorionic gonadotropin" EXACT []
synonym: "Low maternal serum hCG" EXACT []
xref: UMLS:C4021149
is_a: HP:0011436 ! Abnormal maternal serum screening
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-17T07:48:26Z

[Term]
id: HP:0011435
name: Low maternal circulating PAPP-A concentration
def: "An abnormally low concentration of serum PAPP-A (pregnancy associated plasma protein A), as compared to normal values for gestational-age." [https://orcid.org/0000-0002-6410-0882, PMID:19038077]
comment: Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome.
synonym: "Low maternal serum PAPP-A" EXACT []
xref: UMLS:C4023360
is_a: HP:0011436 ! Abnormal maternal serum screening
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-17T07:51:25Z

[Term]
id: HP:0011436
name: Abnormal maternal serum screening
def: "An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy." [https://orcid.org/0000-0002-6410-0882, PMID:19038077]
xref: UMLS:C4023359
is_a: HP:0002686 ! Pregnancy history
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-17T07:52:25Z

[Term]
id: HP:0011437
name: Maternal autoimmune disease
def: "A medical history of a fetus or child born to a mother with an autoimmune disease." [https://orcid.org/0000-0002-6410-0882]
comment: Maternal autoimmune diseases with potential adverse effects for the fetus include autoimmune forms of hyperthyroidism and hypothyroidism, myasthenia gravis, systemic lupus erythematodes, and autoimmune forms of thrombocytopenia.
xref: UMLS:C4023358
is_a: HP:0002686 ! Pregnancy history
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-17T07:54:31Z

[Term]
id: HP:0011438
name: Maternal teratogenic exposure
def: "A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy." [https://orcid.org/0000-0002-6410-0882]
comment: Commonly encountered maternal teratogens include alcohol, antiepileptic drugs, antihypertensive and antithyroid medications, aspirin, bisphosphonates, chemotherapy, monoclonal antibodies, ionizing radiation, recreational drugs, and serotonin-specific reuptake inhibitors (a class of antidepressants).
xref: UMLS:C4023357
is_a: HP:0031437 ! Pregnancy exposure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-17T07:59:06Z

[Term]
id: HP:0011439
name: Anesthetic-induced rhabdomylosis
def: "Rhabdomyolysis induced by anesthesia." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023356
is_a: HP:0003201 ! Rhabdomyolysis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-18T12:19:01Z

[Term]
id: HP:0011440
name: Alcohol-induced rhabdomyolysis
def: "Rhabdomyolysis induced by intake of alcohol." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023355
is_a: HP:0003201 ! Rhabdomyolysis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-18T12:21:35Z

[Term]
id: HP:0011441
name: Abnormal medulla oblongata morphology
def: "An abnormality of the medulla oblongata, the lower half of the brainstem." [https://orcid.org/0000-0002-0736-9199]
comment: The medulla oblongata, which is often referred to simply as the medulla, comprises the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures.
synonym: "Abnormality of the medulla oblongata" EXACT []
synonym: "Abnormality of the myencephalon" EXACT []
xref: UMLS:C4021148
is_a: HP:0002363 ! Abnormal brainstem morphology
is_a: HP:0011282 ! Abnormal hindbrain morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-18T01:51:24Z

[Term]
id: HP:0011442
name: Abnormal central motor function
def: "An anomaly of the control or production of movement in the central nervous system." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of central motor function" EXACT []
xref: UMLS:C4023354
is_a: HP:0012638 ! Abnormal nervous system physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-18T02:29:04Z

[Term]
id: HP:0011443
name: Abnormality of coordination
synonym: "Abnormality of coordination" EXACT layperson []
synonym: "Coordination issue" EXACT layperson []
xref: UMLS:C4023353
is_a: HP:0011442 ! Abnormal central motor function
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-18T02:40:46Z

[Term]
id: HP:0011444
name: Decorticate rigidity
def: "A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus." [https://orcid.org/0000-0002-0736-9199]
comment: Decorticate posturing
xref: SNOMEDCT_US:36423000
xref: UMLS:C0231521
is_a: HP:0002063 ! Rigidity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-18T03:30:10Z

[Term]
id: HP:0011445
name: Athetoid cerebral palsy
def: "A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone." [https://orcid.org/0000-0002-1511-5893]
comment: Athetoid cerebral palsy is caused by damage to the basal ganglia.
synonym: "Dyskinetic cerebral palsy" RELATED []
xref: SNOMEDCT_US:230780007
xref: SNOMEDCT_US:75019001
xref: UMLS:C0270742
is_a: HP:0002071 ! Abnormality of extrapyramidal motor function
is_a: HP:0100021 ! Cerebral palsy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-18T03:53:04Z

[Term]
id: HP:0011446
name: Abnormality of mental function
def: "Cognitive, psychiatric, or memory anomaly." []
comment: This includes abnormalities in speech, mood, emotions, behavior, and cognition.
synonym: "Abnormality of higher mental function" EXACT []
xref: UMLS:C4023352
is_a: HP:0012638 ! Abnormal nervous system physiology
property_value: terms:contributor https://orcid.org/0000-0001-7062-8192
property_value: terms:contributor https://orcid.org/0000-0001-7941-2961
property_value: terms:contributor https://orcid.org/0000-0001-9221-9226
property_value: terms:contributor https://orcid.org/0000-0002-0183-1637
property_value: terms:contributor https://orcid.org/0000-0003-1785-7126
property_value: terms:contributor https://orcid.org/0000-0003-2291-6952
property_value: terms:contributor https://orcid.org/0000-0003-4958-6025
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-18T04:23:59Z

[Term]
id: HP:0011447
name: Hyposegmentation of neutrophil nuclei
def: "Hyposegmented (hypolobulated) or bilobed neutrophil nuclei." [https://orcid.org/0000-0002-0736-9199]
comment: Hyposegmented cells are neutrophils with fewer than three nuclear lobes.
synonym: "Hyposegmentation of neutrophil nuclei in peripheral blood" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-8169-9049]
synonym: "Pelger-Huet anomaly" RELATED []
xref: SNOMEDCT_US:85559002
xref: UMLS:C0030779
xref: UMLS:C4023351
is_a: HP:0011992 ! Abnormal neutrophil morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-18T04:44:22Z

[Term]
id: HP:0011448
name: Ankle clonus
alt_id: HP:0002541
def: "Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward." [https://orcid.org/0000-0002-0736-9199]
comment: Ankle clonus is generally caused by corticospinal disease.
synonym: "Abnormal rhythmic movements of ankle" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:39055007
xref: UMLS:C0238651
is_a: HP:0002169 ! Clonus
is_a: HP:0034674 ! Abnormal ankle physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-18T05:09:48Z

[Term]
id: HP:0011449
name: Knee clonus
alt_id: HP:0002325
def: "Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Patellar clonus" EXACT []
xref: SNOMEDCT_US:54360005
xref: UMLS:C0520823
is_a: HP:0002169 ! Clonus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-18T05:11:32Z

[Term]
id: HP:0011450
name: Unusual CNS infection
def: "A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection." []
synonym: "Central nervous system infection" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:128117002
xref: UMLS:C0007684
is_a: HP:0002011 ! Morphological central nervous system abnormality
is_a: HP:0032158 ! Unusual infection by anatomical site
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-18T05:57:29Z

[Term]
id: HP:0011451
name: Primary microcephaly
def: "Head circumference below 2 standard deviations below the mean for age and gender at birth." [https://orcid.org/0000-0002-0736-9199]
synonym: "Congenital decreased head circumference" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Congenital microcephaly" EXACT []
synonym: "Congenital small head" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Congenital small head circumference" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Congenital small skull" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased head circumference present at birth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Head circumference small for gestational age" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Microcephaly present at birth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Small cranium present at birth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Small head circumference present at birth" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Small head present at birth" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Small skull present at birth" BROAD [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C2677180
xref: UMLS:C4020749
is_a: HP:0000252 ! Microcephaly
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-18T06:50:36Z

[Term]
id: HP:0011452
name: Functional abnormality of the middle ear
def: "An abnormality of the function of the middle ear." [https://orcid.org/0000-0002-0736-9199]
comment: The middle ear comprises the tympanic cavity in the temporal bone of the skull behind the eardrum, and is separated from the outer ear by the ear drum. The tympanic cavity contains the auditory ossicles (malleus, incus, stapes) that vibrate when exposed to sound, forming a chain that extends to the oval window of the inner ear and whose main function is to amplify sound. Additionally, the middle ear connects to the back of the throat and nose through the Eustachian tube.
synonym: "Functional abnormality of the middle ear" EXACT layperson []
xref: UMLS:C4021846
is_a: HP:0000370 ! Abnormality of the middle ear
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-19T09:33:03Z

[Term]
id: HP:0011453
name: Abnormal incus morphology
def: "An abnormality of the incus, an ossicle in the middle ear." [HPO_CONTRIBUTOR:DDD_dfitzpatrick]
synonym: "Abnormality of the incus" EXACT []
xref: UMLS:C4023350
is_a: HP:0004452 ! Abnormality of the middle ear ossicles
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-19T09:38:20Z

[Term]
id: HP:0011454
name: Abnormal malleus morphology
def: "An abnormality of the malleus, an ossicle in the middle ear." [HPO_CONTRIBUTOR:DDD_dfitzpatrick]
synonym: "Abnormality of the malleus" EXACT []
xref: UMLS:C4023349
is_a: HP:0004452 ! Abnormality of the middle ear ossicles
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-19T09:40:02Z

[Term]
id: HP:0011455
name: Absent malleus
def: "Aplasia of the malleus." [HPO_CONTRIBUTOR:DDD_dfitzpatrick]
xref: SNOMEDCT_US:300169003
xref: UMLS:C0576900
is_a: HP:0011454 ! Abnormal malleus morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-19T09:40:08Z

[Term]
id: HP:0011456
name: Absent stapes
def: "Aplasia of the stapes." [HPO_CONTRIBUTOR:DDD_dfitzpatrick]
xref: SNOMEDCT_US:300178009
xref: UMLS:C0576909
is_a: HP:0008628 ! Abnormal stapes morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-19T09:42:52Z

[Term]
id: HP:0011457
name: Loss of eyelashes
def: "This term refers to the loss of eyelashes that were previously present." [https://orcid.org/0000-0002-0736-9199]
comment: Common causes of loss of eyelashes include inflammation, autoimmunity, tumors,endocrine disorders, drugs and medications, and a number of congenital conditions.
synonym: "Ciliary Madarosis" EXACT []
synonym: "Eyelashes fell out" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Loss of eyelashes" EXACT layperson []
synonym: "Milphosis" EXACT []
synonym: "Missing eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:34887006
xref: UMLS:C0271321
is_a: HP:0000499 ! Abnormal eyelash morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-25T09:15:21Z

[Term]
id: HP:0011458
name: Abdominal symptom
def: "A subjective manifestation of disease localized to the abdomen." []
xref: UMLS:C0740651
is_a: HP:0025032 ! Abnormality of digestive system physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-25T05:35:45Z

[Term]
id: HP:0011459
name: Esophageal carcinoma
def: "The presence of a carcinoma of the esophagus." [https://orcid.org/0000-0002-6410-0882, NCIT:C3513]
xref: SNOMEDCT_US:372138000
xref: UMLS:C0152018
is_a: HP:0100751 ! Esophageal neoplasm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-25T06:55:07Z

[Term]
id: HP:0011460
name: Embryonal onset
def: "Onset of disease at up to 8 weeks following fertilization (corresponding to 10 weeks of gestation)." [https://orcid.org/0000-0002-7744-1790]
comment: The time interval of a gestation is called the gestation period. In human obstetrics, gestational age refers to the fertilization age plus two weeks. This is approximately the duration since the woman's last menstrual period began.
xref: UMLS:C4023348
is_a: HP:0030674 ! Antenatal onset
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-25T06:57:48Z

[Term]
id: HP:0011461
name: Fetal onset
def: "Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks)." [https://orcid.org/0000-0002-7744-1790]
comment: The time interval of a gestation is called the gestation period. In human obstetrics, gestational age refers to the fertilization age plus two weeks. This is approximately the duration since the woman's last menstrual period began.
synonym: "Foetal onset" EXACT uk_spelling []
xref: UMLS:C4023347
is_a: HP:0030674 ! Antenatal onset
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-25T06:58:21Z

[Term]
id: HP:0011462
name: Young adult onset
def: "Onset of disease at the age of between 16 and 40 years." [https://orcid.org/0000-0002-6410-0882]
xref: UMLS:C3554568
is_a: HP:0003581 ! Adult onset
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-25T07:01:15Z

[Term]
id: HP:0011463
name: Childhood onset
alt_id: HP:0003586
alt_id: HP:0003617
def: "Onset of disease at the age of between 1 and 5 years." [https://orcid.org/0000-0002-6410-0882]
comment: This term refers to ages up to but not including the fifth birthday (see Juvenile onset).
synonym: "Symptoms begin in childhood" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1837352
is_a: HP:0410280 ! Pediatric onset
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-25T07:16:20Z

[Term]
id: HP:0011464
name: Aganglionosis of the small intestine
def: "A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine." [https://orcid.org/0000-0002-6410-0882]
xref: UMLS:C4023346
is_a: HP:0004362 ! Abnormal enteric ganglion morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-25T07:36:49Z

[Term]
id: HP:0011465
name: Duodenal aganglionosis
def: "A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum." [https://orcid.org/0000-0002-6410-0882]
xref: UMLS:C4023345
is_a: HP:0011464 ! Aganglionosis of the small intestine
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-25T07:38:12Z

[Term]
id: HP:0011466
name: Aplasia/Hypoplasia of the gallbladder
def: "Absence or underdevelopment of the gallbladder." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small gallbladder" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped gallbladder" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023344
is_a: HP:0012437 ! Abnormal gallbladder morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-25T07:40:20Z

[Term]
id: HP:0011467
name: Absent gallbladder
def: "A developmental defect in which the gallbladder fails to form." [https://orcid.org/0000-0002-6410-0882]
synonym: "Absent gallbladder" EXACT layperson []
synonym: "Agenesis of the gallbladder" EXACT []
synonym: "Aplasia of the gallbladder" EXACT []
xref: SNOMEDCT_US:86507001
xref: UMLS:C0266251
is_a: HP:0011466 ! Aplasia/Hypoplasia of the gallbladder
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-25T07:41:14Z

[Term]
id: HP:0011468
name: Facial tics
def: "Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face." [https://orcid.org/0000-0003-2958-5076]
synonym: "Cramping of facial muscles" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Facial spasms" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Facial tics" EXACT layperson []
synonym: "Involuntary facial muscle spasms" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Jerking of facial muscles" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Mimic spasms" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Muscle spasm of face" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Myoclonus of facial muscles" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Spasms of facial muscles" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Twitching of facial muscles" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:230335009
xref: SNOMEDCT_US:32402008
xref: UMLS:C0278151
xref: UMLS:C0338467
xref: UMLS:C0858722
xref: UMLS:C4280324
xref: UMLS:C4280325
is_a: HP:0005324 ! Disturbance of facial expression
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-25T07:45:47Z

[Term]
id: HP:0011469
name: Nasal regurgitation
def: "Regurgitation of milk through the nose." [HPO_CONTRIBUTOR:DDD_ncarter]
xref: SNOMEDCT_US:85023004
xref: UMLS:C0232608
is_a: HP:0008872 ! Feeding difficulties in infancy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-25T07:52:19Z

[Term]
id: HP:0011470
name: Nasogastric tube feeding in infancy
def: "Feeding problem necessitating nasogastric tube feeding." [HPO_CONTRIBUTOR:DDD_ncarter]
comment: This is a severe form of feeding problems in infancy.
xref: UMLS:C4023343
is_a: HP:0008872 ! Feeding difficulties in infancy
is_a: HP:0033454 ! Tube feeding
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-25T07:53:46Z

[Term]
id: HP:0011471
name: Gastrostomy tube feeding in infancy
def: "Feeding problem necessitating gastrostomy tube feeding." [HPO_CONTRIBUTOR:DDD_ncarter]
comment: This is an extremely severe form of feeding problems in infancy.
synonym: "PEG-fed in infancy" RELATED []
xref: UMLS:C4020748
xref: UMLS:C4023342
is_a: HP:0008872 ! Feeding difficulties in infancy
is_a: HP:0033454 ! Tube feeding
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-25T10:00:00Z

[Term]
id: HP:0011472
name: Abnormal small intestinal villus morphology
synonym: "Abnormal shape of small intestinal villus" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of small intestinal villus morphology" EXACT []
xref: UMLS:C4023341
is_a: HP:0025129 ! Abnormal small intestinal mucosa morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-26T08:16:03Z

[Term]
id: HP:0011473
name: Villous atrophy
def: "The enteric villi are atrophic or absent." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Atrophy of small intestinal villi" EXACT []
synonym: "Biopsy shows villous atrophy" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Duodenal villous atrophy" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Small intestine biopsy shows villous atrophy" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Variable degree of villous atrophy" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Villous degeneration" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:275403002
xref: SNOMEDCT_US:75581001
xref: UMLS:C0267456
xref: UMLS:C0554101
xref: UMLS:C1833058
xref: UMLS:C1859541
xref: UMLS:C2677378
xref: UMLS:C4020747
is_a: HP:0011472 ! Abnormal small intestinal villus morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-26T08:18:31Z

[Term]
id: HP:0011474
name: Childhood onset sensorineural hearing impairment
def: "Sensorineural hearing impairment with childhood onset." [HPO_CONTRIBUTOR:DDD_dfitzpatrick]
xref: UMLS:C4023340
is_a: HP:0000407 ! Sensorineural hearing impairment
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-30T07:18:09Z

[Term]
id: HP:0011475
name: Persistent stapedial artery
def: "Persistence of the stapedial artery, which normally regresses during embryonic life." [HPO_CONTRIBUTOR:DDD_mbitner-glidicz]
xref: UMLS:C4023339
is_a: HP:0008609 ! Abnormal middle ear morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-31T08:38:23Z

[Term]
id: HP:0011476
name: Profound sensorineural hearing impairment
def: "Complete loss of hearing related to a sensorineural defect." [HPO_CONTRIBUTOR:DDD_dfitzpatrick]
xref: UMLS:C4023338
is_a: HP:0000407 ! Sensorineural hearing impairment
is_a: HP:0012715 ! Profound hearing impairment
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-03-31T10:21:17Z

[Term]
id: HP:0011477
name: Upbeat nystagmus
def: "In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient." [https://orcid.org/0000-0002-0736-9199, PMID:21505601]
comment: In most cases, paramedian lesions in the medulla oblongata or the midbrain are found, for example, in patients with multiple sclerosis, brainstem ischemia or tumors, or Wernicke's encephalopathy.
xref: SNOMEDCT_US:307677002
xref: UMLS:C0585545
is_a: HP:0010544 ! Vertical nystagmus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-01T10:54:17Z

[Term]
id: HP:0011478
name: True anophthalmia
def: "Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination." [HPO_CONTRIBUTOR:DDD_ncarter]
comment: True anophthalmia implies an early failure of eye development.
synonym: "Complete anophthalmia" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Completely missing eyeball" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Total anophthalmia" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C2675590
is_a: HP:0000528 ! Anophthalmia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-01T12:19:11Z

[Term]
id: HP:0011479
name: Abnormal lacrimal punctum morphology
def: "An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the lacrimal punctum" EXACT []
xref: UMLS:C4023337
is_a: HP:0000614 ! Abnormal nasolacrimal system morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-01T09:08:05Z

[Term]
id: HP:0011480
name: Unilateral microphthalmos
def: "A developmental anomaly characterized by abnormal smallness of one eye." [HPO_CONTRIBUTOR:DDD_ncarter]
synonym: "Abnormally small eyeball on one side" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Unilateral nanophthalmos" NARROW [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C3640024
xref: UMLS:C4280323
is_a: HP:0000568 ! Microphthalmia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-01T12:35:57Z

[Term]
id: HP:0011481
name: Abnormal lacrimal duct morphology
def: "An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the lacrimal canaliculus" EXACT []
synonym: "Abnormality of the lacrimal duct" EXACT []
xref: UMLS:C1858567
is_a: HP:0000614 ! Abnormal nasolacrimal system morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-01T09:11:55Z

[Term]
id: HP:0011482
name: Abnormal lacrimal gland morphology
def: "Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the lacrimal gland" EXACT []
xref: UMLS:C4023336
is_a: HP:0000614 ! Abnormal nasolacrimal system morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-01T09:35:54Z

[Term]
id: HP:0011483
name: Anterior synechiae of the anterior chamber
def: "Adhesions between the iris and the cornea." [HPO_CONTRIBUTOR:DDD_ncarter]
synonym: "Anterior synechiae" EXACT []
synonym: "Cornea-iris adhesion" EXACT []
synonym: "Iridocorneal adhesions" EXACT []
synonym: "Iridocorneal synechia" EXACT []
xref: SNOMEDCT_US:70992005
xref: UMLS:C0152252
is_a: HP:0007833 ! Anterior chamber synechiae
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-02T08:50:23Z

[Term]
id: HP:0011484
name: Posterior synechiae of the anterior chamber
def: "Adhesions between the iris and the lens." [HPO_CONTRIBUTOR:DDD_ncarter]
synonym: "Iridolenticular adhesions" EXACT []
synonym: "Posterior synechiae" EXACT []
xref: SNOMEDCT_US:111512005
xref: UMLS:C0152253
is_a: HP:0007833 ! Anterior chamber synechiae
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-02T08:50:59Z

[Term]
id: HP:0011485
name: Corneolenticular adhesion
def: "Developmental abnormality in which the lens and cornea are not separated." [HPO_CONTRIBUTOR:DDD_ncarter]
xref: UMLS:C4023334
is_a: HP:0000593 ! Abnormal anterior chamber morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-02T08:52:43Z

[Term]
id: HP:0011486
name: Abnormal corneal thickness
def: "An abnormal anteroposterior thickness of the cornea." [https://orcid.org/0000-0001-8727-6592]
synonym: "Abnormality of corneal thickness" EXACT []
xref: UMLS:C4023333
is_a: HP:0000481 ! Abnormal cornea morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-02T10:15:01Z

[Term]
id: HP:0011487
name: Increased corneal thickness
def: "A increased anteroposterior thickness of the cornea." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C3810451
is_a: HP:0011486 ! Abnormal corneal thickness
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-02T10:17:35Z

[Term]
id: HP:0011488
name: Abnormal corneal endothelium morphology
def: "Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea." [https://orcid.org/0000-0001-8727-6592]
synonym: "Abnormality of corneal endothelium" EXACT []
xref: UMLS:C4023332
is_a: HP:0000481 ! Abnormal cornea morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-02T10:18:50Z

[Term]
id: HP:0011489
name: Abnormal migration of corneal endothelium
def: "Abnormal migration of corneal endothelium." [HPO_CONTRIBUTOR:DDD_ncarter]
comment: Can be seen in posterior polymorphous corneal dystrophy.
xref: UMLS:C4023331
is_a: HP:0011488 ! Abnormal corneal endothelium morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-02T10:20:17Z

[Term]
id: HP:0011490
name: Abnormal Descemet membrane morphology
def: "Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium." [https://orcid.org/0000-0001-8727-6592]
synonym: "Abnormality of Descemet's membrane" EXACT []
xref: UMLS:C4023330
is_a: HP:0011488 ! Abnormal corneal endothelium morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-02T10:23:11Z

[Term]
id: HP:0011491
name: Reduced number of corneal endothelial cells
def: "A reduction in the number of corneal endothelial cells." [HPO_CONTRIBUTOR:DDD_ncarter]
xref: UMLS:C4023329
is_a: HP:0011488 ! Abnormal corneal endothelium morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-02T10:24:23Z

[Term]
id: HP:0011492
name: Abnormal corneal stroma morphology
def: "An abnormality of the stroma of cornea, also known as the substantia propria of cornea." [HPO_CONTRIBUTOR:DDD_ncarter, https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of corneal stroma" EXACT []
xref: UMLS:C4023328
is_a: HP:0000481 ! Abnormal cornea morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-02T10:28:49Z

[Term]
id: HP:0011493
name: Central opacification of the cornea
def: "Reduced transparency of the central portion of the corneal stroma." [HPO_CONTRIBUTOR:DDD_ncarter]
xref: UMLS:C4023327
is_a: HP:0007759 ! Opacification of the corneal stroma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-02T10:36:22Z

[Term]
id: HP:0011494
name: Generalized opacification of the cornea
def: "Generalized reduced transparency of the stroma of the cornea." [https://orcid.org/0000-0001-8727-6592]
synonym: "Generalised opacification of the cornea" EXACT uk_spelling []
xref: UMLS:C4021147
is_a: HP:0007759 ! Opacification of the corneal stroma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-02T10:39:50Z

[Term]
id: HP:0011495
name: Abnormal corneal epithelium morphology
def: "Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea." [https://orcid.org/0000-0001-8727-6592]
synonym: "Abnormality of corneal epithelium" EXACT []
xref: UMLS:C4023326
is_a: HP:0000481 ! Abnormal cornea morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-03T07:10:49Z

[Term]
id: HP:0011496
name: Corneal neovascularization
def: "Ingrowth of new blood vessels into the cornea." [HPO_CONTRIBUTOR:DDD_ncarter, PMID:22898649]
comment: New blood vessels, which sprout from the capillaries and venules of the pericorneal plexus, may block light, compromise visual acuity, and lead to inflammation, corneal scarring, and edema. Corneal neovascularization may be a consequence of corneal hypoxia. Neovascular patterns can be separated into three clinical groups: deep neovascularization overlying Descemet's membrane (seen in herpetic and luetic interstitial keratitis), stromal neovascularization (as a result of stromal keratitis), and vascular pannus (from ocular surface disorders). Corneal pannus is subepithelial fibrovascular tissue ingrowth from the limbus onto the cornea that can be observed with corneal neovascularization.
synonym: "Corneal neovascularisation" EXACT uk_spelling []
synonym: "Corneal pannus" NARROW []
synonym: "Corneal vascularization" EXACT []
synonym: "Limbal neovascularization" EXACT []
synonym: "New blood vessel formation in cornea" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:19161004
xref: UMLS:C0085109
is_a: HP:0000481 ! Abnormal cornea morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-03T07:15:37Z

[Term]
id: HP:0011497
name: Rubeosis iridis
alt_id: HP:0025319
def: "Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification." [PMID:27895936, PMID:29881517]
comment: See Figure 1 of PMID:29881517.
synonym: "Iris neovascularization" EXACT []
synonym: "Neovascularization of the iris" EXACT []
synonym: "New blood vessel formation in iris" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:51995000
xref: UMLS:C0154916
is_a: HP:0007905 ! Abnormal iris vasculature
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-03T07:32:43Z

[Term]
id: HP:0011498
name: obsolete Partial aniridia
is_obsolete: true
replaced_by: HP:0000526
creation_date: 2012-04-03T07:38:24Z

[Term]
id: HP:0011499
name: Mydriasis
def: "Abnormal dilatation of the iris." [HPO_CONTRIBUTOR:DDD_ncarter]
subset: hposlim_core
synonym: "Dilated pupil" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:37125009
xref: UMLS:C0026961
is_a: HP:0007686 ! Abnormal pupillary function
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-03T07:49:21Z

[Term]
id: HP:0011500
name: Polycoria
def: "Multiple pupils." [HPO_CONTRIBUTOR:DDD_ncarter]
synonym: "Multiple pupils" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:204159004
xref: UMLS:C0344544
is_a: HP:0000615 ! Abnormal pupil morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-04T07:19:56Z

[Term]
id: HP:0011501
name: Anterior lenticonus
def: "A conical projection of the anterior surface of the lens, occurring as a developmental anomaly." [https://orcid.org/0000-0001-8727-6592]
xref: SNOMEDCT_US:95480008
xref: UMLS:C0344262
is_a: HP:0001142 ! Lenticonus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-04T07:54:36Z

[Term]
id: HP:0011502
name: Posterior lenticonus
def: "A conical projection of the posterior surface of the lens, occurring as a developmental anomaly." [https://orcid.org/0000-0001-8727-6592]
xref: SNOMEDCT_US:95482000
xref: UMLS:C0344263
is_a: HP:0001142 ! Lenticonus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-04T07:55:12Z

[Term]
id: HP:0011503
name: Aplasia of the fovea
def: "Congenital absence of the fovea." [https://orcid.org/0000-0002-0736-9199]
comment: Aplasia of the fovea can occur in aniridia and albinism.
synonym: "Absent fovea" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023324
is_a: HP:0008060 ! Aplasia/Hypoplasia of the fovea
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-06T08:40:21Z

[Term]
id: HP:0011504
name: Bull's eye maculopathy
def: "Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation." [https://orcid.org/0000-0001-8727-6592, PMID:31704701]
synonym: "Annular macular dystrophy" EXACT []
synonym: "Chloroquine retinopathy" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:312958000
xref: SNOMEDCT_US:424169002
xref: UMLS:C0730330
xref: UMLS:C1828210
is_a: HP:0008002 ! Abnormality of macular pigmentation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-06T08:57:53Z

[Term]
id: HP:0011505
name: Cystoid macular edema
def: "Cystoid macular edema (CME) is any type of macular edema that involves cyst formation." [HPO_CONTRIBUTOR:DDD_ncarter]
comment: CME can occur with Irvine-Gass syndrome and other disorders.
synonym: "Cystoid macular edema" EXACT []
xref: SNOMEDCT_US:193387007
xref: UMLS:C0024440
is_a: HP:0040049 ! Macular edema
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-06T09:12:59Z

[Term]
id: HP:0011506
name: Choroidal neovascularization
def: "Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye." [HPO_CONTRIBUTOR:DDD_ncarter]
comment: This is a common symptom of the degenerative maculopathy wet age-related macular degeneration.
synonym: "Choroidal neovascular membrane" EXACT []
xref: UMLS:C4023323
is_a: HP:0001103 ! Abnormal macular morphology
is_a: HP:0025568 ! Abnormal morphology of the choroidal vasculature
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-06T09:28:46Z

[Term]
id: HP:0011507
name: Macular flecks
def: "Pale often indistinct lesions of the macula." [https://orcid.org/0000-0001-8727-6592]
xref: UMLS:C4023322
is_a: HP:0030500 ! Yellow/white lesions of the macula
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-06T09:38:42Z

[Term]
id: HP:0011508
name: Macular hole
def: "A macular hole is a small break in the macula, located in the center of the retina." [HPO_CONTRIBUTOR:DDD_ncarter]
xref: SNOMEDCT_US:232006002
xref: UMLS:C0024441
is_a: HP:0001103 ! Abnormal macular morphology
is_a: HP:0011958 ! Retinal perforation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-06T09:39:58Z

[Term]
id: HP:0011509
name: Macular hyperpigmentation
def: "Increased amount of pigmentation in the macula lutea." [HPO_CONTRIBUTOR:DDD_ncarter]
xref: UMLS:C0745109
is_a: HP:0008002 ! Abnormality of macular pigmentation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-06T09:52:11Z

[Term]
id: HP:0011510
name: Drusen
def: "Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye." [https://orcid.org/0000-0001-8727-6592]
xref: SNOMEDCT_US:18695008
xref: UMLS:C1260959
is_a: HP:0030506 ! Yellow/white lesions of the retina
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-06T09:54:42Z

[Term]
id: HP:0011511
name: Macular schisis
def: "Splitting of the retina in the macular region." [https://orcid.org/0000-0001-8727-6592]
comment: This abnormality can be seen in X-linked retinoschisis.
xref: UMLS:C4023321
is_a: HP:0030498 ! Macular thickening
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-06T09:55:43Z

[Term]
id: HP:0011512
name: Hyperpigmentation of the fundus
def: "Increased pigmentation of the fundus" [HPO_CONTRIBUTOR:DDD_ncarter, https://orcid.org/0000-0003-0986-4123]
synonym: "Hyperpigmented fundi" EXACT []
synonym: "Hyperpigmented fundus" EXACT []
xref: UMLS:C4021146
is_a: HP:0031605 ! Abnormality of fundus pigmentation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-06T10:34:11Z

[Term]
id: HP:0011513
name: Retinal cavernous hemangioma
alt_id: HP:0030508
def: "A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous angioma are described as having a 'cluster of grapes' appearance." [https://orcid.org/0000-0002-0736-9199, PMID:20844673]
comment: The lesions are variable in size and location, and frequently follow the course of a major retinal vein. Epiretinal membranes are a common feature. In contrast to retinal capillary hemangiomas, cavernous hemangiomas lack prominent feeder vessels, intraretinal exudate, and surrounding subretinal fluid. Because the fundoscopic features are characteristic, diagnosis can generally be made based upon clinical appearance.
synonym: "Retinal cavernous angioma" EXACT []
synonym: "Retinal cavernous haemangioma" EXACT uk_spelling []
xref: SNOMEDCT_US:312937006
xref: UMLS:C0730304
is_a: HP:0007797 ! Retinal vascular malformation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-06T04:12:54Z

[Term]
id: HP:0011514
name: Abnormality of binocular vision
def: "An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth." [HPO_CONTRIBUTOR:DDD_ncarter]
xref: UMLS:C4023320
is_a: HP:0000504 ! Abnormality of vision
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-06T06:00:34Z

[Term]
id: HP:0011515
name: Abnormal stereopsis
def: "Inability to make fine depth discriminations from parallax provided by the two eyes' different positions on the head." [https://orcid.org/0000-0001-8727-6592]
xref: UMLS:C4023319
is_a: HP:0011514 ! Abnormality of binocular vision
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-06T06:03:49Z

[Term]
id: HP:0011516
name: Achromatopsia
def: "A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult." [https://orcid.org/0000-0001-8727-6592, PMID:12015282]
comment: The end stage of cone degeneration is rod monochromacy, also called achromatopsia, in which vision is mediated exclusively by rod photoreceptors. Rod monochromacy can also be manifest from birth and can be due to congenitally absent or dysfunctional cone photoreceptors. There is no rod counterpart to cone degeneration; all rod photoreceptor degenerations have a secondary loss of cones and are categorized as retinitis pigmentosa.
synonym: "Rod monochromacy" EXACT []
synonym: "Rod monochromatism" EXACT []
xref: SNOMEDCT_US:102450007
xref: UMLS:C0302129
is_a: HP:0007803 ! Monochromacy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-06T06:40:03Z

[Term]
id: HP:0011517
name: Cone monochromacy
def: "The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors." [HPO_CONTRIBUTOR:DDD_ncarter]
comment: There are three differing forms of cone monochromacy, named according to the residual functioning cone class, (1) blue cone (S-cone) monochromacy, green cone (M-cone) monochromacy, and red cone (L-cone) monochromacy.
xref: UMLS:C4023318
is_a: HP:0007803 ! Monochromacy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-06T06:40:33Z

[Term]
id: HP:0011518
name: Dichromacy
def: "Individuals affected by dichromacy possess only two types of cones, instead of three." [https://orcid.org/0000-0002-0736-9199]
comment: The three types of dichromacy (protanopia, deuteranopia, and tritanopia) are named according the cone photopigment that is missing.
xref: UMLS:C4023317
is_a: HP:0007641 ! Dyschromatopsia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-06T06:46:27Z

[Term]
id: HP:0011519
name: Anomalous trichromacy
def: "Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones." [https://orcid.org/0000-0002-0736-9199]
comment: Because the spectral sensitivities of individuals with anomalous trichromacy are shifted compared to normal, they mix the primary colors in different proportions.
xref: UMLS:C4023316
is_a: HP:0007641 ! Dyschromatopsia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-06T06:57:10Z

[Term]
id: HP:0011520
name: Deuteranomaly
def: "A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green." [https://orcid.org/0000-0002-0736-9199]
comment: Note that protanomaly and deuteranomaly are both associated with difficulties distinguishing red and green.
synonym: "Deuteranomoly" EXACT []
synonym: "Green-weak" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:246674000
xref: SNOMEDCT_US:77479002
xref: UMLS:C0155016
is_a: HP:0000642 ! Red-green dyschromatopsia
is_a: HP:0011519 ! Anomalous trichromacy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-06T07:14:19Z

[Term]
id: HP:0011521
name: Deuteranopia
def: "Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green." [https://orcid.org/0000-0001-8727-6592]
comment: Blue and red cones only; no functional green cones.
synonym: "Green-blind" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:246674000
xref: SNOMEDCT_US:77479002
xref: UMLS:C0155016
is_a: HP:0000642 ! Red-green dyschromatopsia
is_a: HP:0011518 ! Dichromacy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-06T07:34:40Z

[Term]
id: HP:0011522
name: Protanopia
def: "Blue and green cones only; no functional red cones." [https://orcid.org/0000-0001-8727-6592]
synonym: "Red-blind" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:51445007
xref: UMLS:C0155015
is_a: HP:0000642 ! Red-green dyschromatopsia
is_a: HP:0011518 ! Dichromacy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-06T07:45:06Z

[Term]
id: HP:0011523
name: Iris cyst
def: "An iris cyst is composed of a single cell layer of epithelium and is filled with fluid." [https://orcid.org/0000-0001-8727-6592]
xref: SNOMEDCT_US:37761009
xref: UMLS:C0271119
is_a: HP:0000525 ! Abnormality iris morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-06T09:05:29Z

[Term]
id: HP:0011524
name: Iris melanoma
def: "Malignant tumor of melanocytes affecting the iris." [HPO_CONTRIBUTOR:DDD_ncarter]
xref: NCIT:C3224
xref: SNOMEDCT_US:255012009
xref: UMLS:C0346373
is_a: HP:0000525 ! Abnormality iris morphology
is_a: HP:0007716 ! Uveal melanoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-06T09:06:41Z

[Term]
id: HP:0011525
name: Iris nevus
def: "A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated." [HPO_CONTRIBUTOR:DDD_ncarter]
synonym: "Eye freckle" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:95711003
xref: UMLS:C0346376
is_a: HP:0000525 ! Abnormality iris morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-06T09:11:42Z

[Term]
id: HP:0011526
name: Abnormality of lens shape
def: "An abnormal shape of the lens." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of lens shape" EXACT layperson []
xref: UMLS:C4023314
is_a: HP:0000517 ! Abnormal lens morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-06T09:16:11Z

[Term]
id: HP:0011527
name: Lentiglobus
def: "Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging." [https://orcid.org/0000-0001-8727-6592]
subset: hposlim_core
synonym: "Bulging of eye lens" BROAD layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:419281007
xref: UMLS:C1622439
xref: UMLS:C4280322
is_a: HP:0011526 ! Abnormality of lens shape
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-06T09:17:01Z

[Term]
id: HP:0011528
name: Solitary congenital hypertrophy of retinal pigment epithelium
def: "Sharply demarcated hyperpigmentation which is congenital found in around 3-5% of the population and of no functional significance." [https://orcid.org/0000-0001-8727-6592]
synonym: "Single isolated CHRPE" EXACT []
synonym: "Single isolated congenital hypertrophy of retinal pigment epithelium" EXACT []
xref: UMLS:C4021145
is_a: HP:0007649 ! Congenital hypertrophy of retinal pigment epithelium
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-06T09:24:44Z

[Term]
id: HP:0011529
name: Multiple bilateral congenital hypertrophy of retinal pigment epithelium
def: "Sharply demarcated hyperpigmentation which is congenital." [https://orcid.org/0000-0001-8727-6592]
comment: Bilateral multiple CHRPE is strongly associated with familial adenomatous polyposis coli.
synonym: "Multiple bilateral CHRPE" EXACT abbreviation []
xref: UMLS:C4021144
is_a: HP:0007649 ! Congenital hypertrophy of retinal pigment epithelium
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-06T09:25:33Z

[Term]
id: HP:0011530
name: Retinal hole
def: "A small break in the retina." [https://orcid.org/0000-0002-0736-9199]
comment: A retinal hole can be asymptomatic or can lead to the sudden appearance of many floaters or flashes, blurry, or wavy vision, or of a a dark shadow or curtain in the peripheral visual field.
synonym: "Retinal holes" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:232003005
xref: SNOMEDCT_US:302888003
xref: SNOMEDCT_US:40024006
xref: SNOMEDCT_US:95690009
xref: UMLS:C0035321
is_a: HP:0011958 ! Retinal perforation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-06T09:39:01Z

[Term]
id: HP:0011531
name: Vitritis
def: "Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Hyalitis" EXACT []
synonym: "Vitreitis" EXACT []
xref: SNOMEDCT_US:95802009
xref: UMLS:C0235812
is_a: HP:0004327 ! Abnormal vitreous humor morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-07T08:21:01Z

[Term]
id: HP:0011532
name: Subretinal exudate
def: "A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:247156002
xref: UMLS:C0423431
is_a: HP:0001147 ! Retinal exudate
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-07T09:21:46Z

[Term]
id: HP:0011533
name: Snowflake vitreoretinal degeneration
def: "The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous." [HPO_CONTRIBUTOR:DDD_ncarter, PMID:18179896]
synonym: "Snowflake retinal degeneration" EXACT []
xref: UMLS:C1860405
is_a: HP:0007769 ! Peripheral retinal degeneration
is_a: HP:0007773 ! Vitreoretinopathy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-07T09:52:37Z

[Term]
id: HP:0011534
name: Abnormal spatial orientation of the cardiac segments
def: "Abnormality of the spatial relationship of the cardiac segments to other components of the heart." []
xref: UMLS:C4023313
is_a: HP:0001627 ! Abnormal heart morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-07T10:27:48Z

[Term]
id: HP:0011535
name: Abnormal atrial arrangement
def: "Abnormality of the spatial relationship of the atria to other components of the heart." [HPO_CONTRIBUTOR:DDD_dbrown]
synonym: "Abnormal location of heart atrium" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:445898001
xref: UMLS:C2959688
is_a: HP:0005120 ! Abnormal cardiac atrium morphology
is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-07T10:31:16Z

[Term]
id: HP:0011536
name: Right atrial isomerism
def: "Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:3408620]
xref: UMLS:C3178806
is_a: HP:0011535 ! Abnormal atrial arrangement
is_a: HP:0031855 ! Right isomerism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-07T10:36:52Z

[Term]
id: HP:0011537
name: Left atrial isomerism
def: "In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:3408620]
comment: Left and right hand side atria have left atrial morphology.
xref: EPCC:03.01.05
xref: ICD-10:Q20.6
xref: UMLS:C3178807
is_a: HP:0011535 ! Abnormal atrial arrangement
is_a: HP:0031854 ! Left Isomerism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-07T10:37:51Z

[Term]
id: HP:0011538
name: Atrial situs inversus
def: "Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side." [HPO_CONTRIBUTOR:DDD_dbrown]
xref: EPCC:03.01.03
xref: Fyler:0150
xref: Fyler:150
xref: ICD-10:Q89.3
xref: UMLS:C4023312
is_a: HP:0011535 ! Abnormal atrial arrangement
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-07T10:40:16Z

[Term]
id: HP:0011539
name: Atrial situs ambiguous
def: "Common atrium without defining morphologic features." [HPO_CONTRIBUTOR:DDD_dbrown]
synonym: "Atrial heterotaxy" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Atrial situs ambiguus" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:448681000
xref: UMLS:C3164429
is_a: HP:0011535 ! Abnormal atrial arrangement
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-07T10:43:42Z

[Term]
id: HP:0011540
name: Congenitally corrected transposition of the great arteries
alt_id: HP:0011605
def: "The essence of the lesion is the combination of discordant atrioventricular and ventriculo-arterial connections. Thus, the morphologically right atrium is connected to a morphologically left ventricle across the mitral valve, with the left ventricle then connected to the pulmonary trunk. The morphologically left atrium is connected to the morphologically right ventricle across the tricuspid valve, with the morphologically right ventricle connected to the aorta." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:21569592, PMID:27777298, PMID:32274202]
synonym: "Atrioventricular and ventriculo-arterial discordance" EXACT []
synonym: "ccTGA" EXACT abbreviation []
synonym: "ccTGV" EXACT abbreviation []
synonym: "Congenitally corrected TGA" EXACT []
synonym: "cTGA" EXACT abbreviation []
synonym: "cTGV" EXACT abbreviation []
synonym: "Discordant atrioventricular a ventriculo-arterial connections" EXACT []
synonym: "L-transposition" RELATED []
synonym: "Physiologically corrected transposition of the great vessels" EXACT []
synonym: "Ventricular inversion" RELATED []
xref: EPCC:01.01.03
xref: ICD-10:Q20.5
xref: SNOMEDCT_US:56743000
xref: SNOMEDCT_US:83799000
xref: UMLS:C0232301
xref: UMLS:C0344616
is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments
is_a: HP:0011603 ! Congenital malformation of the great arteries
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-07T10:48:56Z

[Term]
id: HP:0011541
name: Criss-cross atrioventricular valves
def: "Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023310
is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-07T10:51:57Z

[Term]
id: HP:0011542
name: Criss-cross atrioventricular valves with superior-inferior ventricles
def: "Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side." [PMID:11789809]
xref: UMLS:C4023309
is_a: HP:0011541 ! Criss-cross atrioventricular valves
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-07T10:55:06Z

[Term]
id: HP:0011543
name: Superior-inferior ventricles without criss-cross atrioventricular valves
xref: Fyler:0184
xref: Fyler:184
xref: UMLS:C4023308
is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-07T10:56:21Z

[Term]
id: HP:0011544
name: L-looping of the right ventricle
xref: UMLS:C4023307
is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-07T11:20:04Z

[Term]
id: HP:0011545
name: Abnormal connection of the cardiac segments
def: "A deviance in the normal connections between two cardiac segments." [PMID:24876921]
synonym: "Abnormal connexion of the cardiac segments" EXACT uk_spelling []
synonym: "Discordant connection of the cardiac segments" EXACT []
xref: UMLS:C4023306
is_a: HP:0001627 ! Abnormal heart morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-07T11:24:25Z

[Term]
id: HP:0011546
name: Abnormal atrioventricular connection
def: "An abnormality of the circulatory connection between atria and ventricles." [HPO_CONTRIBUTOR:DDD_dbrown]
synonym: "Abnormal atrioventricular connexion" EXACT uk_spelling []
xref: SNOMEDCT_US:253274005
xref: UMLS:C0344612
is_a: HP:0011545 ! Abnormal connection of the cardiac segments
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-07T11:27:57Z

[Term]
id: HP:0011547
name: Absent left sided atrioventricular connection
def: "A defect where there is no connection between the left atrium and left ventricle." [PMID:7104116]
synonym: "Absent left sided atrioventricular connexion" EXACT uk_spelling []
xref: SNOMEDCT_US:253290005
xref: UMLS:C0344629
is_a: HP:0011546 ! Abnormal atrioventricular connection
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-07T11:30:16Z

[Term]
id: HP:0011548
name: Absent right sided atrioventricular connection
def: "A defect where there is no connection between the right atrium and right ventricle." [PMID:7104116]
synonym: "Absent right sided atrioventricular connexion" EXACT uk_spelling []
xref: SNOMEDCT_US:253285007
xref: UMLS:C0344624
is_a: HP:0011546 ! Abnormal atrioventricular connection
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-07T11:30:44Z

[Term]
id: HP:0011549
name: Univentricular heart with absent left sided atrioventricular connection
synonym: "Univentricular heart with absent left sided atrioventricular connexion" EXACT uk_spelling []
xref: UMLS:C4023305
is_a: HP:0011547 ! Absent left sided atrioventricular connection
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-07T11:31:18Z

[Term]
id: HP:0011550
name: Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection
xref: UMLS:C4023304
is_a: HP:0011547 ! Absent left sided atrioventricular connection
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-07T11:32:09Z

[Term]
id: HP:0011551
name: Right sided atrium to left ventricle and absent left sided atrioventricular connection
synonym: "Right sided atrium to left ventricle and absent left sided atrioventricular connexion" EXACT uk_spelling []
xref: UMLS:C4023303
is_a: HP:0011547 ! Absent left sided atrioventricular connection
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-07T11:32:53Z

[Term]
id: HP:0011552
name: Ambiguous atrioventricular connection
def: "With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle)." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
synonym: "Ambiguous atrioventricular connexion" EXACT uk_spelling []
xref: SNOMEDCT_US:253278008
xref: UMLS:C0344617
is_a: HP:0011546 ! Abnormal atrioventricular connection
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-07T11:33:24Z

[Term]
id: HP:0011553
name: Discordant atrioventricular connection
def: "Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:23804932]
synonym: "Discordant atrioventricular connexion" EXACT uk_spelling []
xref: SNOMEDCT_US:253277003
xref: UMLS:C0344615
is_a: HP:0011546 ! Abnormal atrioventricular connection
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-07T11:47:06Z

[Term]
id: HP:0011554
name: Double inlet atrioventricular connection
def: "The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
synonym: "Double inlet atrioventricular connexion" EXACT uk_spelling []
xref: EPCC:01.01.14
xref: ICD-10:Q20.4
xref: UMLS:C4023302
is_a: HP:0011546 ! Abnormal atrioventricular connection
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-07T11:49:32Z

[Term]
id: HP:0011555
name: Double inlet left ventricle
def: "The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
xref: EPCC:01.04.04
xref: ICD-10:Q20.4
xref: SNOMEDCT_US:253283000
xref: UMLS:C0344622
is_a: HP:0001750 ! Single ventricle
is_a: HP:0011554 ! Double inlet atrioventricular connection
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-07T11:53:33Z

[Term]
id: HP:0011556
name: Double inlet right ventricle
def: "The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
xref: EPCC:01.04.03
xref: ICD-10:Q20.4
xref: SNOMEDCT_US:253282005
xref: UMLS:C0344621
is_a: HP:0001750 ! Single ventricle
is_a: HP:0011554 ! Double inlet atrioventricular connection
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-07T11:57:14Z

[Term]
id: HP:0011557
name: Double inlet to single ventricle of indeterminate morphology
def: "The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023301
is_a: HP:0001750 ! Single ventricle
is_a: HP:0011554 ! Double inlet atrioventricular connection
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-07T12:00:21Z

[Term]
id: HP:0011558
name: Double inlet to single ventricle with common atrioventricular orifice
xref: UMLS:C4023300
is_a: HP:0011557 ! Double inlet to single ventricle of indeterminate morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-07T12:02:03Z

[Term]
id: HP:0011559
name: Double inlet to single ventricle with two atrioventricular valves
xref: UMLS:C4023299
is_a: HP:0011557 ! Double inlet to single ventricle of indeterminate morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-07T12:02:15Z

[Term]
id: HP:0011560
name: Mitral atresia
def: "A congenital defect with failure to open of the mitral valve orifice." [HPO_CONTRIBUTOR:DDD_dbrown]
synonym: "Mitral valve atresia" EXACT []
xref: EPCC:06.02.01
xref: Fyler:0310
xref: Fyler:310
xref: ICD-10:Q23.2
xref: SNOMEDCT_US:23063005
xref: UMLS:C0344760
is_a: HP:0001633 ! Abnormal mitral valve morphology
is_a: HP:0011546 ! Abnormal atrioventricular connection
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-07T12:04:11Z

[Term]
id: HP:0011561
name: Overriding atrioventricular valve
def: "An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:7295418]
comment: Straddling and overriding atrioventricular valves usually occur in combination.
xref: UMLS:C4023298
is_a: HP:0011546 ! Abnormal atrioventricular connection
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-07T12:09:28Z

[Term]
id: HP:0011562
name: Straddling atrioventricular valve
def: "Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:7295418]
comment: Straddling and overriding atrioventricular valves usually occur in combination.
xref: UMLS:C4023297
is_a: HP:0011546 ! Abnormal atrioventricular connection
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-07T12:13:57Z

[Term]
id: HP:0011563
name: Abnormal ventriculoarterial connection
def: "An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta." [PMID:15227248, PMID:18805185, PMID:24750982]
comment: The cardiac malformations with abnormal ventriculo-arterial connections in situs solitus and atrio-ventricular concordance include the tetralogy of Fallot as well as different forms of double-outlet right ventricle and transposition of the great arteries.
synonym: "Abnormal ventriculo-arterial connection" EXACT []
synonym: "Abnormal ventriculoarterial connexion" EXACT uk_spelling []
xref: UMLS:C4023296
is_a: HP:0011545 ! Abnormal connection of the cardiac segments
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T07:32:38Z

[Term]
id: HP:0011564
name: Mitral valve arcade
def: "Anomalous mitral valve arcade is diagnosed based on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:20404264]
synonym: "Hammock mitral valve" EXACT []
xref: UMLS:C4021143
is_a: HP:0001633 ! Abnormal mitral valve morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T10:03:28Z

[Term]
id: HP:0011565
name: Common atrium
def: "Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
synonym: "Single atrium" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: Fyler:1140
xref: ICD-10:Q21.2
xref: SNOMEDCT_US:253276007
xref: UMLS:C0392482
is_a: HP:0005120 ! Abnormal cardiac atrium morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T07:50:05Z

[Term]
id: HP:0011566
name: Cor triatriatum dexter
def: "A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:17948095]
comment: Cor triatriatum dexter is a Latin phrase meaning that the heart (cor) has three atria (triatriatum) whereby the 'third' atrium is on the right (dexter) side.
synonym: "Cor triatriatum dextrum" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: Fyler:2854
xref: SNOMEDCT_US:274947007
xref: UMLS:C0344697
is_a: HP:0010774 ! Cor triatriatum
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T08:02:56Z

[Term]
id: HP:0011567
name: Sinus venosus atrial septal defect
def: "An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:16172274]
xref: Fyler:2010
xref: ICD-10:Q21.1
xref: SNOMEDCT_US:95268002
xref: UMLS:C0344730
is_a: HP:0001631 ! Atrial septal defect
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T08:15:24Z

[Term]
id: HP:0011568
name: Double orifice mitral valve
def: "The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:20851840]
comment: In about 50% of Double orifice mitral valve (DOMV) cases, valvular function is normal, others present with stenosis or regurgitation. In most cases, a larger orifice is accompanied by a small eccentric accessory orifice, and some show duplicated mitral valves. Embryologically, the lesion results from abnormal leaflet fusion and persistence of the left part of the common atrio-ventricular canal.
xref: SNOMEDCT_US:253402005
xref: UMLS:C0344770
is_a: HP:0001633 ! Abnormal mitral valve morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T08:29:48Z

[Term]
id: HP:0011569
name: Cleft anterior mitral valve leaflet
def: "Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:6829465]
xref: UMLS:C4023295
is_a: HP:0031480 ! Abnormal mitral valve leaflet morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T08:40:46Z

[Term]
id: HP:0011570
name: Congenital mitral stenosis
def: "Mitral stenosis with congenital onset." [HPO_CONTRIBUTOR:DDD_dbrown]
xref: SNOMEDCT_US:82458004
xref: UMLS:C0158618
is_a: HP:0001718 ! Mitral stenosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T08:46:46Z

[Term]
id: HP:0011571
name: Parachute mitral valve
def: "Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles." [HPO_CONTRIBUTOR:DDD_dbrown]
xref: SNOMEDCT_US:204362007
xref: UMLS:C0546965
is_a: HP:0025523 ! Abnormal morphology of the chordae tendinae of the mitral valve
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T08:47:46Z

[Term]
id: HP:0011572
name: Supramitral ring
def: "A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve." [HPO_CONTRIBUTOR:DDD_dbrown]
synonym: "Membranous supravalvular mitral stenosis" EXACT []
synonym: "Supravalvular mitral ring" EXACT []
xref: UMLS:C4021142
is_a: HP:0001633 ! Abnormal mitral valve morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T08:49:07Z

[Term]
id: HP:0011573
name: Hypoplastic tricuspid valve
def: "Congenital defect characterized by underdevelopment of the tricuspid valve." [HPO_CONTRIBUTOR:DDD_dbrown]
synonym: "Tricuspid valve hypoplasia" EXACT []
synonym: "Underdeveloped tricuspid valve" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: Fyler:1720
xref: UMLS:C4023294
is_a: HP:0001702 ! Abnormal tricuspid valve morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T10:22:38Z

[Term]
id: HP:0011574
name: Imperforate atrioventricular valve
def: "An atrioventricular valve that has failed to open (atretic)." [HPO_CONTRIBUTOR:DDD_dbrown]
synonym: "Unopened atrioventricular valve" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4023293
is_a: HP:0006705 ! Abnormal atrioventricular valve morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T10:35:25Z

[Term]
id: HP:0011575
name: Imperforate tricuspid valve
def: "A tricuspid valve that has failed to open." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:7066117]
comment: Imperforate valve is distinct from atretic valve. The hallmark of an imperforate valve is that it provides potential communication between an atrium and a ventricle. It exists as fused valve leaflets usually possessing their own hypoplastic tensor apparatus. The presence of an imperforate valve may have important surgical implications. Imperforate valve is in contrast to atretic valve with an absent atrioventricular connection. The cornerstone of the diagnosis of an imperformate valve is the identification of a thin mobile membrane between an atrium and a ventrile and the recognition of the tensor apparatus of the valve. In most cases the tensor apparatusis hypoplastic and it maynot be possible to delineate it by echocardiography.
synonym: "Unopened tricuspid valve" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4023292
is_a: HP:0001702 ! Abnormal tricuspid valve morphology
is_a: HP:0011574 ! Imperforate atrioventricular valve
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T10:37:55Z

[Term]
id: HP:0011576
name: Intermediate atrioventricular canal defect
def: "A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices." [HPO_CONTRIBUTOR:DDD_dbrown]
synonym: "Intermediate atrioventricular septal defect" EXACT []
xref: Fyler:1121
xref: UMLS:C4023291
is_a: HP:0006695 ! Atrioventricular canal defect
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T10:56:04Z

[Term]
id: HP:0011577
name: Partial atrioventricular canal defect
def: "A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices." [HPO_CONTRIBUTOR:DDD_dbrown]
synonym: "Incomplete atrioventricular septal defect" EXACT []
synonym: "Incomplete AVSD" EXACT abbreviation []
synonym: "Partial atrioventricular septal defect" EXACT []
synonym: "Partial AVC defect" EXACT abbreviation []
synonym: "Partial AVSD" EXACT abbreviation []
synonym: "PAVSD" EXACT abbreviation []
xref: SNOMEDCT_US:718216009
xref: UMLS:C4023290
is_a: HP:0006695 ! Atrioventricular canal defect
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T10:57:14Z

[Term]
id: HP:0011578
name: Transitional atrioventricular canal defect
def: "A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices." [HPO_CONTRIBUTOR:DDD_dbrown]
xref: UMLS:C4023289
is_a: HP:0006695 ! Atrioventricular canal defect
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T10:58:47Z

[Term]
id: HP:0011579
name: Unbalanced atrioventricular canal defect
def: "Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced)." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:20837915]
synonym: "AVC defect unbalanced" EXACT abbreviation []
synonym: "AVC unbalanced" EXACT abbreviation []
synonym: "Unbalanced atrioventricular septal defect" EXACT []
synonym: "Unbalanced AVC" EXACT abbreviation []
synonym: "Unbalanced AVC defect" EXACT abbreviation []
synonym: "Unbalanced AVSD" EXACT abbreviation []
xref: UMLS:C3280940
is_a: HP:0006695 ! Atrioventricular canal defect
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T11:02:44Z

[Term]
id: HP:0011580
name: Short chordae tendineae of the mitral valve
def: "Abnormally short chordae tendineae of the mitral valve." [https://orcid.org/0000-0002-0736-9199]
comment: The chordae tendineae connect the papillary muscles to the tricuspid valve and the mitral valve in the heart.
xref: UMLS:C4023288
is_a: HP:0025523 ! Abnormal morphology of the chordae tendinae of the mitral valve
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T12:01:44Z

[Term]
id: HP:0011581
name: Double outlet left ventricle
def: "A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle." [https://orcid.org/0000-0002-0736-9199]
xref: Fyler:0650
xref: Fyler:650
xref: ICD-10:Q20.2
xref: SNOMEDCT_US:7368005
xref: UMLS:C0265809
is_a: HP:0001711 ! Abnormal left ventricle morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T12:37:48Z

[Term]
id: HP:0011582
name: Abdominal ectopia cordis
def: "Displacement of the heart outside the thoracic cavity and into the abdomen." [HPO_CONTRIBUTOR:DDD_dbrown]
xref: UMLS:C4023287
is_a: HP:0001683 ! Ectopia cordis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T01:10:32Z

[Term]
id: HP:0011583
name: Cervical ectopia cordis
def: "A type of ectopia cordis with the heart partially in the cervical region and without a defect of the sternum." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
comment: This type of ectopia cordis presumably represents a retention of the heart in its embryonic position in the neck.
xref: UMLS:C4023286
is_a: HP:0001683 ! Ectopia cordis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T01:11:40Z

[Term]
id: HP:0011584
name: Thoracocervical ectopia cordis
def: "A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023285
is_a: HP:0001683 ! Ectopia cordis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T01:12:42Z

[Term]
id: HP:0011585
name: Thoracic ectopia cordis
def: "Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023284
is_a: HP:0001683 ! Ectopia cordis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T01:13:18Z

[Term]
id: HP:0011586
name: Thoracoabdominal ectopia cordis
def: "Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:19479716]
comment: In many cases, thoracicoabdominal ectopia cordis is characterized by partial absence or cleft of the sternum, deficiency of the anterior diaphragm, deficiency of the diaphragmatic pericardium, midline abdominal wall defect, and congenital intracardiac abnormalities. These five characteristics comprise the pentalogy of Cantrell.
xref: UMLS:C4023283
is_a: HP:0001683 ! Ectopia cordis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T01:13:52Z

[Term]
id: HP:0011587
name: Abnormal branching pattern of the aortic arch
def: "A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries." [HPO_CONTRIBUTOR:DDD_dbrown]
comment: The normal aortic arch crosses the left mainstem bronchus and descends in the left paravertebral gutter. The coronary arteries arise from the aortic sinuses. The first branch of the aorta is normally the right brachiocephalic artery, then the left common carotid artery, then the left subclavian artery. Abnormal branching refers to any deviance from the norm of the origin or course of these branches or the proximal vertebral arteries. An anomaly of the aortic arch that results in complete encirclement of the trachea and esophagus by vascular structures is a vascular ring.
xref: UMLS:C4023282
is_a: HP:0012303 ! Abnormal aortic arch morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T01:34:42Z

[Term]
id: HP:0011588
name: Cervical aortic arch
def: "The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta." [HPO_CONTRIBUTOR:DDD_dbrown]
xref: SNOMEDCT_US:253657003
xref: UMLS:C0345065
is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T01:37:51Z

[Term]
id: HP:0011589
name: Common origin of the right brachiocephalic artery and left common carotid artery
def: "The left common carotid artery has a common origin with the innominate artery." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:17138027]
comment: Commonly the three great vessels (innominate artery, left common carotid artery, and the left subclavian artery) originate from the arch of the aorta. The second most common variant of aortic arch branching occurs when the left common carotid artery has a common origin with the innominate artery.
synonym: "Bovine arch" RELATED []
synonym: "Common brachiocephalic trunk" EXACT []
synonym: "Ovine arch" RELATED []
xref: SNOMEDCT_US:460890003
xref: UMLS:C3532020
xref: UMLS:C4020746
xref: UMLS:C4021141
is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T01:38:36Z

[Term]
id: HP:0011590
name: Double aortic arch
def: "A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor)." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:15148283, PMID:15564538]
xref: Fyler:2761
xref: SNOMEDCT_US:10451007
xref: UMLS:C0265883
is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T01:46:10Z

[Term]
id: HP:0011591
name: Left aortic arch with cervical origin of the right subclavian artery
xref: UMLS:C4023281
is_a: HP:0031055 ! Abnormal branching pattern of left aortic arch
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T01:57:40Z

[Term]
id: HP:0011592
name: Left aortic arch with isolated subclavian artery
def: "The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis." [HPO_CONTRIBUTOR:DDD_dbrown]
xref: UMLS:C4023280
is_a: HP:0031055 ! Abnormal branching pattern of left aortic arch
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T02:01:39Z

[Term]
id: HP:0011593
name: Left aortic arch with retroesophageal diverticulum of Kommerell
def: "A patent ductus arteriosus or ductal ligament completes the ring." [HPO_CONTRIBUTOR:DDD_dbrown]
synonym: "Kommerell diverticulum" EXACT []
xref: SNOMEDCT_US:74561007
xref: UMLS:C0265885
is_a: HP:0031055 ! Abnormal branching pattern of left aortic arch
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T02:02:42Z

[Term]
id: HP:0011594
name: Right aortic arch with retroesophageal diverticulum of Kommerell
def: "Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:12075866]
xref: UMLS:C4023279
is_a: HP:0012020 ! Right aortic arch
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T02:07:10Z

[Term]
id: HP:0011595
name: Left aortic arch with retroesophageal right subclavian artery
def: "Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body." [HPO_CONTRIBUTOR:DDD_dbrown]
xref: UMLS:C4023278
is_a: HP:0031055 ! Abnormal branching pattern of left aortic arch
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T02:09:39Z

[Term]
id: HP:0011596
name: Left aortic arch with right descending aorta and right ductus arteriosus
def: "The ring may be completed by the ductal ligament." [HPO_CONTRIBUTOR:DDD_dbrown]
xref: UMLS:C4023277
is_a: HP:0031055 ! Abnormal branching pattern of left aortic arch
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T02:10:48Z

[Term]
id: HP:0011597
name: Right aortic arch with left descending aorta and left ductus arteriosus
xref: UMLS:C4023276
is_a: HP:0012020 ! Right aortic arch
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T02:23:47Z

[Term]
id: HP:0011598
name: Right aortic arch with retroesophageal left subclavian artery
synonym: "Right aortic arch with aberrant left subclavian artery" EXACT []
synonym: "Right aortic arch with anomalous left subclavian artery" EXACT []
xref: UMLS:C4021140
is_a: HP:0012020 ! Right aortic arch
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T02:27:16Z

[Term]
id: HP:0011599
name: Mesocardia
def: "Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
xref: Fyler:0140
xref: Fyler:140
xref: SNOMEDCT_US:16567006
xref: UMLS:C0265865
is_a: HP:0004307 ! Abnormal anatomic location of the heart
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T02:41:36Z

[Term]
id: HP:0011600
name: Abnormal direction of ventricular apex
def: "Abnormal plane of direction of the heart from the base to the apex. Left sided is normal." [HPO_CONTRIBUTOR:DDD_dbrown]
xref: UMLS:C4023275
is_a: HP:0004307 ! Abnormal anatomic location of the heart
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T02:44:41Z

[Term]
id: HP:0011601
name: Rightward direction of ventricular apex
def: "Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal." [HPO_CONTRIBUTOR:DDD_dbrown]
xref: UMLS:C4023274
is_a: HP:0011600 ! Abnormal direction of ventricular apex
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T02:46:32Z

[Term]
id: HP:0011602
name: Midline direction of ventricular apex
def: "Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal." [HPO_CONTRIBUTOR:DDD_dbrown]
xref: UMLS:C4023273
is_a: HP:0011600 ! Abnormal direction of ventricular apex
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T02:47:52Z

[Term]
id: HP:0011603
name: Congenital malformation of the great arteries
def: "Defect or defects of the morphogenesis of the aorta and pulmonary arteries." []
xref: UMLS:C0478012
is_a: HP:0030962 ! Abnormal morphology of the great vessels
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T02:51:09Z

[Term]
id: HP:0011604
name: Aortopulmonary window
def: "A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
xref: Fyler:0560
xref: Fyler:560
xref: SNOMEDCT_US:17024001
xref: UMLS:C0003516
is_a: HP:0011603 ! Congenital malformation of the great arteries
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T02:52:38Z

[Term]
id: HP:0011605
name: obsolete Congenitally corrected transposition of the great arteries with ventricular septal defect
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
is_obsolete: true
replaced_by: HP:0011540
creation_date: 2012-04-08T02:55:06Z

[Term]
id: HP:0011606
name: obsolete Transposition of the great arteries with intact ventricular septum
is_obsolete: true
consider: HP:0001669

[Term]
id: HP:0011607
name: obsolete Transposition of the great arteries with ventricular septal defect
is_obsolete: true
consider: HP:0001669

[Term]
id: HP:0011608
name: Type II truncus arteriosus
def: "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
comment: According to the Van Praagh classification (PMID:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect.
synonym: "Persistent truncus arteriosus type II" EXACT []
synonym: "Type 2 truncus arteriosus" EXACT []
xref: Fyler:0520
xref: Fyler:520
xref: UMLS:C4021137
is_a: HP:0001660 ! Truncus arteriosus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T03:03:51Z

[Term]
id: HP:0011609
name: Type III truncus arteriosus
def: "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
comment: According to the Van Praagh classification (PMID:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect.
synonym: "Persistent truncus arteriosus type III" EXACT []
synonym: "Type 3 truncus arteriosus" EXACT []
xref: Fyler:0530
xref: Fyler:530
xref: UMLS:C4021136
is_a: HP:0001660 ! Truncus arteriosus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T03:08:53Z

[Term]
id: HP:0011610
name: Type IV truncus arteriosus
def: "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
comment: According to the Van Praagh classification (PMID:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect.
synonym: "Persistent truncus arteriosus type IV" EXACT []
synonym: "Type 4 truncus arteriosus" EXACT []
xref: Fyler:0540
xref: Fyler:540
xref: UMLS:C4021135
is_a: HP:0001660 ! Truncus arteriosus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T03:11:07Z

[Term]
id: HP:0011611
name: Interrupted aortic arch
alt_id: HP:0006680
def: "Non-continuity of the arch of aorta with an atretic point or absent segment." [HPO_CONTRIBUTOR:DDD_dbrown]
synonym: "Aortic arch obstruction" RELATED []
synonym: "Atretic transverse aortic arch" EXACT []
xref: Fyler:1241
xref: Fyler:1250
xref: SNOMEDCT_US:218728005
xref: UMLS:C0152419
is_a: HP:0012303 ! Abnormal aortic arch morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T03:17:10Z

[Term]
id: HP:0011612
name: Interrupted aortic arch type A
def: "Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus." [HPO_CONTRIBUTOR:DDD_dbrown]
xref: SNOMEDCT_US:253681005
xref: UMLS:C0345092
is_a: HP:0011611 ! Interrupted aortic arch
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T03:18:18Z

[Term]
id: HP:0011613
name: Interrupted aortic arch type B
def: "Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries." [HPO_CONTRIBUTOR:DDD_dbrown]
synonym: "Interrupted aortic arch, type b" EXACT []
xref: Fyler:1252
xref: SNOMEDCT_US:253682003
xref: UMLS:C0345093
is_a: HP:0011611 ! Interrupted aortic arch
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T03:18:58Z

[Term]
id: HP:0011614
name: Interrupted aortic arch type C
def: "Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries." [HPO_CONTRIBUTOR:DDD_dbrown]
xref: SNOMEDCT_US:253683008
xref: UMLS:C0345094
is_a: HP:0011611 ! Interrupted aortic arch
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T03:19:48Z

[Term]
id: HP:0011615
name: Abnormal pulmonary situs morphology
def: "An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi." [HPO_CONTRIBUTOR:DDD_dbrown]
synonym: "Abnormality of pulmonary situs" EXACT []
xref: UMLS:C4023271
is_a: HP:4000059 ! Abnormal lung development
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T09:20:13Z

[Term]
id: HP:0011616
name: Pulmonary situs inversus
def: "Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus." [HPO_CONTRIBUTOR:DDD_dbrown]
xref: UMLS:C4023270
is_a: HP:0011615 ! Abnormal pulmonary situs morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T09:23:21Z

[Term]
id: HP:0011617
name: Pulmonary situs ambiguus
def: "An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same." [HPO_CONTRIBUTOR:DDD_dbrown]
xref: UMLS:C4023269
is_a: HP:0011615 ! Abnormal pulmonary situs morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T09:24:21Z

[Term]
id: HP:0011618
name: Pulmonary situs ambiguus with bilateral morphologic right lungs
def: "An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lung." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023268
is_a: HP:0011617 ! Pulmonary situs ambiguus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T09:25:35Z

[Term]
id: HP:0011619
name: Pulmonary situs ambiguus with bilateral morphologic left lungs
def: "An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a left lung." [HPO_CONTRIBUTOR:DDD_dbrown]
xref: UMLS:C4023267
is_a: HP:0011617 ! Pulmonary situs ambiguus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T09:26:18Z

[Term]
id: HP:0011620
name: Abnormality of abdominal situs
def: "An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs." [HPO_CONTRIBUTOR:DDD_dbrown]
xref: UMLS:C4023266
is_a: HP:0002012 ! Abnormality of the abdominal organs
is_a: HP:0030853 ! Heterotaxy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T09:30:05Z

[Term]
id: HP:0011621
name: Gerbode ventricular septal defect
def: "A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:19561249]
comment: Echocardiography may visualize a jet across a small defect between left ventricle and right atrium.
synonym: "Left ventricular - right atrial communication" RELATED []
xref: SNOMEDCT_US:41893002
xref: UMLS:C0265812
xref: UMLS:C4023265
is_a: HP:0001629 ! Ventricular septal defect
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T09:34:01Z

[Term]
id: HP:0011622
name: Inlet ventricular septal defect
def: "A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:17101870]
comment: The muscular septum is a nonplanar structure that can be divided into inlet, trabecular, and infundibular components. The inlet portion is inferioposterior to the membranous septum. It begins at the level of the atrioventricular valves and ends at their chordal attachments apically.
synonym: "Atrioventricular canal type ventricular septal defect" EXACT []
synonym: "Type 3 ventricular septal defect" EXACT []
xref: Fyler:1340
is_a: HP:0001629 ! Ventricular septal defect
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T09:38:29Z

[Term]
id: HP:0011623
name: Muscular ventricular septal defect
def: "The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:17101870]
synonym: "Type 4 ventricular septal defect" EXACT []
synonym: "Ventricular septal defect, muscular" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: Fyler:1320
xref: SNOMEDCT_US:94706008
xref: UMLS:C0685707
is_a: HP:0001629 ! Ventricular septal defect
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T09:43:15Z

[Term]
id: HP:0011624
name: Apical muscular ventricular septal defect
def: "A muscular ventricular septal defect located at the apex of the heart." [HPO_CONTRIBUTOR:DDD_dbrown]
xref: UMLS:C4023264
is_a: HP:0011623 ! Muscular ventricular septal defect
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T09:45:43Z

[Term]
id: HP:0011625
name: Multiple muscular ventricular septal defects
def: "A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum." [PMID:22718060]
synonym: "Swiss cheese ventricular septal defect" EXACT []
xref: UMLS:C4023263
is_a: HP:0011623 ! Muscular ventricular septal defect
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T09:49:03Z

[Term]
id: HP:0011626
name: Scimitar anomaly
def: "Right pulmonary venous return to the inferior vena cava." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:16638549]
synonym: "Pulmonary venolobar syndrome" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Scimitar syndrome" EXACT []
xref: ICD-10:Q26.8
xref: SNOMEDCT_US:111323005
xref: SNOMEDCT_US:39905002
xref: UMLS:C0036400
is_a: HP:0010773 ! Partial anomalous pulmonary venous return
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T09:57:11Z

[Term]
id: HP:0011627
name: Aorto-ventricular tunnel
def: "Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle." [PMID:17922908]
xref: UMLS:C4023262
is_a: HP:0001679 ! Abnormal aortic morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T08:29:49Z

[Term]
id: HP:0011628
name: Congenital defect of the pericardium
def: "A developmental defect of the pericardium with congenital onset." [HPO_CONTRIBUTOR:DDD_dbrown]
xref: UMLS:C4023261
is_a: HP:0001697 ! Abnormal pericardium morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T10:05:20Z

[Term]
id: HP:0011629
name: Total absence of the pericardium
def: "No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy." [HPO_CONTRIBUTOR:DDD_dbrown]
synonym: "Absent pericardium" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Congenital absence of the pericardium" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: Fyler:1910
xref: SNOMEDCT_US:253732001
xref: UMLS:C0345140
is_a: HP:0011628 ! Congenital defect of the pericardium
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T10:06:22Z

[Term]
id: HP:0011630
name: Complete diaphragmatic absence of pericardium
def: "No pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart." [HPO_CONTRIBUTOR:DDD_dbrown]
xref: UMLS:C4023259
is_a: HP:0011628 ! Congenital defect of the pericardium
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T10:06:57Z

[Term]
id: HP:0011631
name: Complete right sided absence of pericardium
def: "No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy." [HPO_CONTRIBUTOR:DDD_dbrown]
xref: UMLS:C4023258
is_a: HP:0011628 ! Congenital defect of the pericardium
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T10:08:42Z

[Term]
id: HP:0011632
name: Partial right sided absence of pericardium
def: "A congenital anomaly with lack of part of the pericardium on the righthand side of the heart." [HPO_CONTRIBUTOR:DDD_dbrown]
comment: A congenital anomaly and not the result of a pericardectomy.
xref: UMLS:C4023257
is_a: HP:0011628 ! Congenital defect of the pericardium
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T10:09:24Z

[Term]
id: HP:0011633
name: Complete left sided absence of pericardium
def: "A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart." [HPO_CONTRIBUTOR:DDD_dbrown]
comment: A congenital anomaly and not the result of a pericardectomy.
synonym: "Absent lining around of left side of heart" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023256
is_a: HP:0011628 ! Congenital defect of the pericardium
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T10:11:03Z

[Term]
id: HP:0011634
name: Partial left sided absence of pericardium
def: "A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart." [HPO_CONTRIBUTOR:DDD_dbrown]
comment: A congenital anomaly and not the result of a pericardectomy.
xref: UMLS:C4023255
is_a: HP:0011628 ! Congenital defect of the pericardium
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T10:11:59Z

[Term]
id: HP:0011635
name: Partial diaphragmatic absence of pericardium
def: "Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart." [HPO_CONTRIBUTOR:DDD_dbrown]
xref: UMLS:C4023254
is_a: HP:0011628 ! Congenital defect of the pericardium
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-08T10:13:04Z

[Term]
id: HP:0011636
name: Abnormal coronary artery origin
def: "Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries." [HPO_CONTRIBUTOR:DDD_dbrown]
xref: UMLS:C4023253
is_a: HP:0006704 ! Abnormal coronary artery morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T08:32:24Z

[Term]
id: HP:0011637
name: Anomalous origin of coronary artery from the pulmonary artery
def: "A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023252
is_a: HP:0011636 ! Abnormal coronary artery origin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T08:33:57Z

[Term]
id: HP:0011638
name: Anomalous origin of left coronary artery from the pulmonary artery
def: "Left main coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the left cusp of the aortic valve." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:27358682]
comment: In this anomaly the function of the LMCA territory often requires extensive collateral formation from the RCA, which is often dilated. In the first month of life, physiologic pulmonary hypertension tends to preserve anterograde flow within the left coronary artery, and infants are usually asymptomatic. As pulmonary pressure drops, left-to-right shunting from the higher pressure left coronary arterial system to the lower pressure pulmonary arterial system occurs, and patients become symptomatic. Imaging findings may include markedly dilated collateral arteries and coronary veins.
synonym: "ALCAPA" EXACT abbreviation []
synonym: "Anomalous left coronary artery from the pulmonary artery" EXACT []
synonym: "Bland-Garland-White syndrome" EXACT []
xref: Fyler:3101
xref: SNOMEDCT_US:450301003
xref: UMLS:C3472166
is_a: HP:0011637 ! Anomalous origin of coronary artery from the pulmonary artery
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T08:40:53Z

[Term]
id: HP:0011639
name: Anomalous origin of right coronary artery from the pulmonary artery
def: "Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:450300002
xref: UMLS:C3472165
is_a: HP:0011637 ! Anomalous origin of coronary artery from the pulmonary artery
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T08:41:05Z

[Term]
id: HP:0011640
name: Single coronary artery origin
def: "The presence of a single coronary artery ostium from which both coronary arteries arise." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:4547578]
xref: UMLS:C4023251
is_a: HP:0011636 ! Abnormal coronary artery origin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T08:44:38Z

[Term]
id: HP:0011641
name: Coronary artery fistula
def: "A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:20513726]
comment: Coronary artery fistulas are congenital malformations. This term does not apply to surgical fistulas.
synonym: "Coronary fistula" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: Fyler:2230
xref: SNOMEDCT_US:373093003
xref: UMLS:C0265898
is_a: HP:0011686 ! Abnormal coronary artery course
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T08:54:51Z

[Term]
id: HP:0011642
name: Abnormal coronary sinus morphology
def: "An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the coronary sinus" EXACT []
xref: Fyler:2840
xref: SNOMEDCT_US:253323000
xref: UMLS:C0344680
is_a: HP:0005120 ! Abnormal cardiac atrium morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T09:02:09Z

[Term]
id: HP:0011643
name: Coronary sinus atrial septal defect
def: "An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:18806021]
xref: ICD-10:Q21.1
xref: UMLS:C2063331
is_a: HP:0011642 ! Abnormal coronary sinus morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T09:07:42Z

[Term]
id: HP:0011644
name: Coronary sinus diverticulum
def: "A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:3138904]
synonym: "Diverticulum of the coronary sinus" EXACT []
xref: SNOMEDCT_US:447661004
xref: UMLS:C3163894
is_a: HP:0011642 ! Abnormal coronary sinus morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T09:12:28Z

[Term]
id: HP:0011645
name: Dilatation of the sinus of Valsalva
def: "Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve." []
comment: Aneurysm is considered a severe form of dilatation.
synonym: "Aneurysm of the aortic sinus" NARROW [https://orcid.org/0000-0001-6908-9849]
synonym: "Aortic sinus aneurysm" EXACT []
synonym: "Sinus of Valsalva aneurysm" NARROW []
xref: Fyler:2316
xref: SNOMEDCT_US:54160000
xref: UMLS:C2239253
is_a: HP:0004970 ! Ascending tubular aorta aneurysm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T09:31:57Z

[Term]
id: HP:0011646
name: Juxtaductal coarctation of the aorta
def: "Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
comment: Juxtaductal coarctation usually presents when the ductus arteriosus closes.
xref: UMLS:C4023250
is_a: HP:0012305 ! Coarctation of the descending aortic arch
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T09:41:05Z

[Term]
id: HP:0011647
name: Postductal coarctation of the aorta
def: "Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch." [HPO_CONTRIBUTOR:DDD_dbrown]
comment: Blood flow to the aorta distal to the coarctation may be dependent on a patent ductus arteriosus, and hence closure of the ductus arteriosus can lead to serious ischemia of the affected tissues.
synonym: "Postductal aortic coarctation" EXACT []
xref: SNOMEDCT_US:72242008
xref: UMLS:C0265879
is_a: HP:0012305 ! Coarctation of the descending aortic arch
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T09:49:36Z

[Term]
id: HP:0011648
name: Patent ductus arteriosus after birth at term
def: "Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater." [HPO_CONTRIBUTOR:DDD_dbrown]
xref: UMLS:C4023249
is_a: HP:0001643 ! Patent ductus arteriosus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T09:58:35Z

[Term]
id: HP:0011649
name: Patent ductus arteriosus after premature birth
def: "Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation." [HPO_CONTRIBUTOR:DDD_dbrown]
xref: UMLS:C4023248
is_a: HP:0001643 ! Patent ductus arteriosus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T09:59:59Z

[Term]
id: HP:0011650
name: Bilateral ductus arteriosus
def: "The presence of both a left and a right ductus arteriosus." [HPO_CONTRIBUTOR:DDD_dbrown]
synonym: "Bilateral ductus botalli" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:461093009
xref: UMLS:C0431501
is_a: HP:0001643 ! Patent ductus arteriosus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T10:00:51Z

[Term]
id: HP:0011651
name: Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis
def: "A double outlet right ventricle with a subaortic ventricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:6193702]
synonym: "DORV with doubly committed VSD and pulmonary stenosis" EXACT [PMID:6193702]
xref: SNOMEDCT_US:448516008
xref: UMLS:C3165091
is_a: HP:0001719 ! Double outlet right ventricle
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T10:02:22Z

[Term]
id: HP:0011652
name: Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis
def: "A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:6193702]
synonym: "DORV with doubly committed VSD" EXACT [PMID:10798433]
synonym: "Double outlet right ventricle, doubly committed ventricular septal defect" EXACT []
xref: Fyler:0604
xref: Fyler:604
xref: UMLS:C4023247
is_a: HP:0001719 ! Double outlet right ventricle
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T10:05:46Z

[Term]
id: HP:0011653
name: Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis
def: "A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:10431853]
synonym: "DORV with non-committed VSD and pulmonary stenosis" EXACT []
xref: UMLS:C4023246
is_a: HP:0001719 ! Double outlet right ventricle
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T10:06:15Z

[Term]
id: HP:0011654
name: Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis
def: "A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:10431853]
synonym: "DORV with non-committed VSD without pulmonary stenosis" EXACT []
synonym: "Double outlet right ventricle, noncommitted ventricular septal defect" EXACT []
xref: Fyler:0603
xref: Fyler:603
xref: UMLS:C4023245
is_a: HP:0001719 ! Double outlet right ventricle
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T10:06:32Z

[Term]
id: HP:0011655
name: Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis
def: "A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:6193702]
synonym: "DORV with subaortic VSD and pulmonary stenosis" EXACT []
xref: UMLS:C4023244
is_a: HP:0001719 ! Double outlet right ventricle
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T10:06:46Z

[Term]
id: HP:0011656
name: Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis
def: "A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:6193702]
synonym: "DORV with subaortic VSD without pulmonary stenosis" EXACT []
xref: UMLS:C4023243
is_a: HP:0001719 ! Double outlet right ventricle
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T10:07:00Z

[Term]
id: HP:0011657
name: Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis
def: "A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:6193702]
synonym: "DORV with subpulmonary VSD and pulmonary stenosis" EXACT []
xref: UMLS:C4023242
is_a: HP:0001719 ! Double outlet right ventricle
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T10:07:16Z

[Term]
id: HP:0011658
name: Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis
def: "A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:20069085, PMID:6193702]
synonym: "DORV with subpulmonary VSD without pulmonary stenosis" EXACT abbreviation []
synonym: "Taussig-Bing anomaly" EXACT []
xref: UMLS:C4023241
is_a: HP:0001719 ! Double outlet right ventricle
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T10:07:31Z

[Term]
id: HP:0011659
name: Tetralogy of Fallot with absent pulmonary valve
def: "Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue." [HPO_CONTRIBUTOR:DDD_dbrown]
synonym: "Tetralogy of Fallot with absent pulmonary valve syndrome" EXACT []
xref: SNOMEDCT_US:399228007
xref: UMLS:C1302264
is_a: HP:0001636 ! Tetralogy of Fallot
is_a: HP:0005134 ! Absence of the pulmonary valve
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T10:15:04Z

[Term]
id: HP:0011660
name: Anomalous origin of one pulmonary artery from ascending aorta
def: "Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:2590592]
comment: Origin of a pulmonary artery from the aorta is also known as hemitruncus. One pulmonary artery branch, usually the right, arises from the ascending aorta just above the aortic sinuses, while the main pulmonary artery and the other pulmonary branch arise in their normal position from the right ventricle.
synonym: "Hemitruncus" EXACT []
xref: Fyler:0550
xref: Fyler:550
xref: UMLS:C4021134
is_a: HP:0030966 ! Abnormal pulmonary artery morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T10:34:29Z

[Term]
id: HP:0011661
name: Anomalous origin of left pulmonary artery from ascending aorta
def: "The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery." [HPO_CONTRIBUTOR:DDD_dbrown]
xref: SNOMEDCT_US:253637002
xref: UMLS:C0345040
is_a: HP:0011660 ! Anomalous origin of one pulmonary artery from ascending aorta
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T10:42:23Z

[Term]
id: HP:0011662
name: Tricuspid atresia
def: "Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
synonym: "Tricuspid valve atresia" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: EPCC:06.01.01
xref: Fyler:0400
xref: Fyler:400
xref: ICD-10:Q22.4
xref: SNOMEDCT_US:253455004
xref: SNOMEDCT_US:63042009
xref: UMLS:C0243002
is_a: HP:0001702 ! Abnormal tricuspid valve morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T10:45:29Z

[Term]
id: HP:0011663
name: Right ventricular cardiomyopathy
def: "Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease." [https://orcid.org/0000-0002-0736-9199, PMID:17916581]
comment: This feature is most often seen in the disease arrhythmogenic right ventricular cardiomyopathy (ARVC). ARVC is defined histologically by the presence of progressive replacement of right ventricular myocardium with adipose and fibrous tissue often confined to a triangle of dysplasia comprising the right ventricular inflow, outflow, and apex. While these pathologic abnormalities can result in functional and morphological right ventricular abnormalities, they also occur in the left ventricle, producing a DCM phenotype, or can be present in the absence of clinically detectable structural changes in either ventricle. For the purposes of this classification, ARVC is defined by the presence of right ventricular dysfunction (global or regional), with or without left ventricular disease, in the presence of histological evidence for the disease and/or electrocardiographic abnormalities in accordance with published criteria.
synonym: "Cardiomyopathy, esp. right ventricular" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Cardiomyopathy, right ventricular" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C2063326
is_a: HP:0001638 ! Cardiomyopathy
is_a: HP:0001707 ! Abnormal right ventricle morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T11:14:59Z

[Term]
id: HP:0011664
name: Left ventricular noncompaction cardiomyopathy
def: "Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates." [PMID:17916581]
comment: Left ventricular noncompaction cardiomyopathy (LVNC), also known as spongy myocardium, is a distinct form of cardiomyopathy occurring in-utero when segments of spongy myocardium fail to transform into compact, mature musculature resulting in prominent myocardial trabeculae, deep intra-trabecular recesses, and decreased cardiac function. It has been proposed that LVNC results from arrest of the compaction process during the second month of embryological development.
synonym: "Left ventricular non-compaction cardiomyopathy" EXACT []
xref: UMLS:C4021133
is_a: HP:0012817 ! Noncompaction cardiomyopathy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T11:31:40Z

[Term]
id: HP:0011665
name: Takotsubo cardiomyopathy
def: "Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation." [PMID:17916581]
synonym: "Broken-heart syndrome" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:441541008
xref: UMLS:C1739395
is_a: HP:0001638 ! Cardiomyopathy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T11:39:40Z

[Term]
id: HP:0011666
name: Absent right superior vena cava
def: "Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:17578953, PMID:19808620, PMID:20532458]
comment: The superior vena cava is formed by the left and right brachiocephalic (innominate) veins, which receive blood from the arms, head and neck.
xref: SNOMEDCT_US:253308005
xref: UMLS:C0344656
is_a: HP:0005301 ! Persistent left superior vena cava
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T11:43:46Z

[Term]
id: HP:0011667
name: Bilateral superior vena cava with bridging vein
xref: UMLS:C4023240
is_a: HP:0033379 ! Bilateral superior vena cava
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T12:00:46Z

[Term]
id: HP:0011668
name: Bilateral superior vena cava with no bridging vein
xref: UMLS:C4023239
is_a: HP:0033379 ! Bilateral superior vena cava
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T12:01:33Z

[Term]
id: HP:0011669
name: Left superior vena cava draining directly to the left atrium
def: "A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt." [PMID:18847480]
xref: UMLS:C4023238
is_a: HP:0033379 ! Bilateral superior vena cava
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T12:02:06Z

[Term]
id: HP:0011670
name: Left superior vena cava draining to coronary sinus
def: "A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence." [PMID:18847480]
xref: ICD-10:Q26.1
xref: UMLS:C2677768
is_a: HP:0033379 ! Bilateral superior vena cava
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T12:02:58Z

[Term]
id: HP:0011671
name: Interrupted inferior vena cava with azygous continuation
def: "Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:10550884]
xref: ICD-10:26.8
xref: UMLS:C4023237
is_a: HP:0025576 ! Abnormal inferior vena cava morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T12:04:06Z

[Term]
id: HP:0011672
name: Cardiac myxoma
def: "A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origin and general project from the endocardium into a cardiac chamber." [https://orcid.org/0000-0002-0736-9199, PMID:7477198]
xref: NCIT:C6577
xref: SNOMEDCT_US:426191007
xref: UMLS:C1960546
is_a: HP:0100544 ! Neoplasm of the heart
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T12:10:35Z

[Term]
id: HP:0011673
name: Cardiac hemangioma
def: "Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium." [HPO_CONTRIBUTOR:DDD_dbrown]
xref: NCIT:C3085
xref: UMLS:C1707298
is_a: HP:0410266 ! Visceral hemangioma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T12:20:13Z

[Term]
id: HP:0011674
name: Cardiac teratoma
def: "A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumor size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone." [https://orcid.org/0000-0002-0736-9199, PMID:17331235]
xref: NCIT:C3403
xref: UMLS:C1112387
is_a: HP:0009792 ! Teratoma
is_a: HP:0100544 ! Neoplasm of the heart
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T12:33:29Z

[Term]
id: HP:0011675
name: Arrhythmia
alt_id: HP:0001656
alt_id: HP:0001661
alt_id: HP:0001665
alt_id: HP:0001666
alt_id: HP:0001675
alt_id: HP:0001687
alt_id: HP:0001721
alt_id: HP:0004351
alt_id: HP:0005158
def: "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:19063792]
synonym: "Abnormal heart rate" EXACT layperson []
synonym: "Arrhythmias" EXACT []
synonym: "Cardiac arrhythmia" EXACT []
synonym: "Cardiac arrhythmias" EXACT []
synonym: "Cardiac rhythm disturbances" EXACT []
synonym: "Heart rhythm disorders" EXACT layperson []
synonym: "Irregular heart beat" EXACT layperson []
synonym: "Irregular heartbeat" EXACT layperson []
xref: SNOMEDCT_US:102594003
xref: SNOMEDCT_US:44808001
xref: SNOMEDCT_US:698247007
xref: UMLS:C0003811
xref: UMLS:C0264886
xref: UMLS:C0522055
xref: UMLS:C0855329
xref: UMLS:C1832603
xref: UMLS:C1842820
is_a: HP:0030956 ! Abnormality of cardiovascular system electrophysiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-09T12:47:32Z

[Term]
id: HP:0011676
name: Tetralogy of Fallot with absent subarterial conus
xref: UMLS:C4023236
is_a: HP:0001636 ! Tetralogy of Fallot
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-10T07:40:33Z

[Term]
id: HP:0011677
name: Tetralogy of Fallot with atrioventricular canal defect
xref: UMLS:C4023235
is_a: HP:0001636 ! Tetralogy of Fallot
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-10T07:41:53Z

[Term]
id: HP:0011678
name: Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries
def: "A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA)." [https://orcid.org/0000-0002-0736-9199, PMID:22368654]
comment: Major aortopulmonary collateral arteries (MACPAs) are arteries that develop to supply blood to the lungs when native pulmonary circulation is underdeveloped. That is, the blood supply to the lungs derives from the aorta rather than from the pulmonary artery.
xref: UMLS:C4023234
is_a: HP:0012516 ! Tetralogy of Fallot with pulmonary atresia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-10T07:43:01Z

[Term]
id: HP:0011679
name: Tetralogy of Fallot with pulmonary stenosis
def: "The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:253512000
xref: UMLS:C0344881
is_a: HP:0001636 ! Tetralogy of Fallot
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-10T07:44:06Z

[Term]
id: HP:0011680
name: Single ventricle of indeterminate morphology
xref: UMLS:C4023233
is_a: HP:0001750 ! Single ventricle
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-10T08:02:28Z

[Term]
id: HP:0011681
name: Subarterial ventricular septal defect
def: "A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:10798413]
synonym: "Conal ventricular septal defect" EXACT []
synonym: "Doubly committed ventricular septal defect" EXACT []
synonym: "Infundibular ventricular septal defect" EXACT []
synonym: "Supracristal ventricular septal defect" EXACT []
synonym: "Type 1 ventricular septal defect" EXACT []
xref: Fyler:1330
xref: SNOMEDCT_US:448876006
xref: UMLS:C3165130
is_a: HP:0001629 ! Ventricular septal defect
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-10T08:09:32Z

[Term]
id: HP:0011682
name: Perimembranous ventricular septal defect
def: "A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:10798413]
synonym: "Conoventricular ventricular septal defect" EXACT []
synonym: "Membranous ventricular septal defect" EXACT []
synonym: "Paramembranous ventricular septal defect" EXACT []
synonym: "Perimembraneous ventricular septal defect" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Type 2 ventricular septal defect" EXACT []
synonym: "Ventricular septal defect, perimembranous" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: Fyler:1310
xref: SNOMEDCT_US:109428005
xref: UMLS:C0344925
is_a: HP:0001629 ! Ventricular septal defect
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-10T08:21:13Z

[Term]
id: HP:0011683
name: Restrictive ventricular septal defect
def: "Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:10798413]
comment: This term can be used in addition to another term describing the morphology of a VSD.
xref: SNOMEDCT_US:253551005
xref: UMLS:C0344924
is_a: HP:0001629 ! Ventricular septal defect
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-10T08:26:59Z

[Term]
id: HP:0011684
name: Non-restrictive ventricular septal defect
def: "Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD." [HPO_CONTRIBUTOR:DDD_dbrown]
comment: This term can be used in addition to another term describing the morphology of a VSD.
xref: SNOMEDCT_US:373131000
xref: UMLS:C1298817
is_a: HP:0001629 ! Ventricular septal defect
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-10T08:29:05Z

[Term]
id: HP:0011685
name: Infra-aortic superior vena cava
def: "The superior vena cava passes below the aortic arch." [HPO_CONTRIBUTOR:DDD_dbrown]
comment: The superior vena cava normally crosses superior and anterior to the aorta.
xref: UMLS:C4023232
is_a: HP:0025575 ! Abnormal superior vena cava morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-10T08:36:00Z

[Term]
id: HP:0011686
name: Abnormal coronary artery course
def: "An abnormal path of a coronary artery." [HPO_CONTRIBUTOR:DDD_dbrown]
synonym: "Anomalous coronary artery course" RELATED []
xref: SNOMEDCT_US:253714001
xref: UMLS:C0345122
is_a: HP:0006704 ! Abnormal coronary artery morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-10T08:37:35Z

[Term]
id: HP:0011687
name: AV nodal tachycardia
def: "A type of supraventricular tachycardia that originates in the atrioventricular node." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:20733110]
synonym: "Atrioventricular nodal tachycardia" EXACT []
synonym: "AV nodal tachycardia" EXACT abbreviation []
xref: UMLS:C0857265
is_a: HP:0004755 ! Supraventricular tachycardia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-10T08:45:26Z

[Term]
id: HP:0011688
name: Supraventricular tachycardia with an accessory connection mediated pathway
def: "Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism." [PMID:22459483]
synonym: "Atrioventricular re-entry tachycardia" EXACT []
synonym: "Supraventricular tachycardia with an accessory connexion mediated pathway" EXACT uk_spelling []
xref: UMLS:C4021132
is_a: HP:0004755 ! Supraventricular tachycardia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-10T10:33:56Z

[Term]
id: HP:0011689
name: Supraventricular tachycardia with a concealed accessory connection
def: "Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed because it is not seen on the ECG during sinus rhythm." [PMID:22459483]
synonym: "Supraventricular tachycardia with a concealed accessory connexion" EXACT uk_spelling []
xref: UMLS:C4023231
is_a: HP:0011688 ! Supraventricular tachycardia with an accessory connection mediated pathway
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-10T10:35:31Z

[Term]
id: HP:0011690
name: Permanent junctional reciprocating tachycardia
def: "An incessant orthodromic tachycardia with anterograde conduction over the atrioventricular node and by retrograde conduction via an accessory pathway usually located in the posteroseptal region with slow and decremental conduction." [PMID:15831598]
xref: SNOMEDCT_US:233904005
xref: UMLS:C0340483
is_a: HP:0011689 ! Supraventricular tachycardia with a concealed accessory connection
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-10T10:36:06Z

[Term]
id: HP:0011691
name: Supraventricular tachycardia with a concealed accessory pathway on the left free wall
xref: UMLS:C4023230
is_a: HP:0011689 ! Supraventricular tachycardia with a concealed accessory connection
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-10T10:36:49Z

[Term]
id: HP:0011692
name: Supraventricular tachycardia with a concealed accessory pathway on the right free wall
xref: UMLS:C4023229
is_a: HP:0011689 ! Supraventricular tachycardia with a concealed accessory connection
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-10T10:37:37Z

[Term]
id: HP:0011693
name: Supraventricular tachycardia with a concealed accessory pathway on the septum
xref: UMLS:C4023228
is_a: HP:0011689 ! Supraventricular tachycardia with a concealed accessory connection
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-10T10:38:07Z

[Term]
id: HP:0011694
name: Supraventricular tachycardia with a manifest accessory pathway
xref: UMLS:C4023227
is_a: HP:0011688 ! Supraventricular tachycardia with an accessory connection mediated pathway
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-10T10:38:53Z

[Term]
id: HP:0011695
name: Cerebellar hemorrhage
def: "Hemorrhage into the parenchyma of the cerebellum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cerebellar haemorrhage" EXACT uk_spelling []
xref: SNOMEDCT_US:75038005
xref: UMLS:C0149854
is_a: HP:0002170 ! Intracranial hemorrhage
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-10T10:46:25Z

[Term]
id: HP:0011696
name: Supraventricular tachycardia with a manifest accessory pathway on the left free wall
xref: UMLS:C4023226
is_a: HP:0011694 ! Supraventricular tachycardia with a manifest accessory pathway
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-10T10:57:34Z

[Term]
id: HP:0011697
name: Supraventricular tachycardia with a manifest accessory pathway on the right free wall
xref: UMLS:C4023225
is_a: HP:0011694 ! Supraventricular tachycardia with a manifest accessory pathway
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-10T10:59:00Z

[Term]
id: HP:0011698
name: Supraventricular tachycardia with a manifest accessory pathway on the septum
xref: UMLS:C4023224
is_a: HP:0011694 ! Supraventricular tachycardia with a manifest accessory pathway
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-10T10:59:45Z

[Term]
id: HP:0011699
name: Atrial reentry tachycardia
xref: UMLS:C4023223
is_a: HP:0001692 ! Atrial arrhythmia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-10T11:15:27Z

[Term]
id: HP:0011700
name: Automatic atrial tachycardia
def: "Chronic supraventricular tachycardia predominantly seen in childhood." [PMID:4019927]
xref: SNOMEDCT_US:233892002
xref: UMLS:C0039234
is_a: HP:0001692 ! Atrial arrhythmia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-10T11:19:33Z

[Term]
id: HP:0011701
name: Multifocal atrial tachycardia
def: "Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic." [ORPHA:3282]
synonym: "Chaotic atrial tachycardia" EXACT [ORPHA:3282, PMID:5451226]
synonym: "Ectopic atrial tachycardia" EXACT []
xref: SNOMEDCT_US:49982000
xref: UMLS:C0221158
is_a: HP:0001692 ! Atrial arrhythmia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-10T11:20:13Z

[Term]
id: HP:0011702
name: Abnormal electrophysiology of sinoatrial node origin
def: "An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart." [https://orcid.org/0000-0002-0736-9199]
xref: Fyler:7010
xref: UMLS:C4023222
is_a: HP:0011675 ! Arrhythmia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-10T11:22:43Z

[Term]
id: HP:0011703
name: Sinus tachycardia
def: "Heart rate of greater than 100 beats per minute." []
synonym: "Sinus tach" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Sinus tachy" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:11092001
xref: UMLS:C0039239
is_a: HP:0011702 ! Abnormal electrophysiology of sinoatrial node origin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-10T11:30:45Z

[Term]
id: HP:0011704
name: Sick sinus syndrome
def: "An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress." [PMID:17420362]
synonym: "Sinoatrial node disease" EXACT []
xref: SNOMEDCT_US:36083008
xref: UMLS:C0037052
is_a: HP:0011702 ! Abnormal electrophysiology of sinoatrial node origin
is_a: HP:0012722 ! Heart block
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-10T11:31:17Z

[Term]
id: HP:0011705
name: First degree atrioventricular block
def: "Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
comment: The conduction of the cardiac impulse through the atrioventricular node is manifested in the EKG by the PR interval, which is normally less that 200 milliseconds in adults. Normal values are age-dependent in children, but normal values are less that 160 milliseconds in young children.
xref: SNOMEDCT_US:270492004
xref: UMLS:C0085614
is_a: HP:0001678 ! Atrioventricular block
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-11T07:17:18Z

[Term]
id: HP:0011706
name: Second degree atrioventricular block
def: "An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:195042002
xref: UMLS:C0264906
is_a: HP:0001678 ! Atrioventricular block
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-11T07:22:35Z

[Term]
id: HP:0011707
name: Mobitz I atrioventricular block
def: "Progressive PR interval prolongation with the subsequent occurrence of a single nonconducted P wave that results in a pause. The pause that follows the nonconducted impulse is less than fully compensatory (less than the sum of two normal sinus intervals)." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
comment: Mobitz I atrioventricular block is associated with a normal QRS duration.
synonym: "Mobitz type 1 atrioventricular block" EXACT []
synonym: "Wenckebach block" EXACT []
xref: SNOMEDCT_US:54016002
xref: UMLS:C0264907
is_a: HP:0011706 ! Second degree atrioventricular block
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-11T07:25:17Z

[Term]
id: HP:0011708
name: Mobitz II atrioventricular block
def: "A type of second degree atrioventricular (AV) block characterized by sudden failure to conduct an impulse through the AV node without a preceding change in the PR interval." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
comment: Mobitz I atrioventricular block is usually associated with a prolonged QRS duration.
synonym: "Mobitz type 2 atrioventricular block" EXACT []
xref: SNOMEDCT_US:28189009
xref: UMLS:C0155700
is_a: HP:0011706 ! Second degree atrioventricular block
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-11T07:34:09Z

[Term]
id: HP:0011709
name: Atrioventricular dissociation
def: "Atrioventricular (AV) dissociation is present if the atria and the ventricles are under the control of two separate pacemakers. AV dissociation can occur in the absence of a primary AV conduction disturbance." [https://orcid.org/0000-0002-0736-9199]
comment: Atrioventricular dissociation can develop in response to severe sinus bradycardia with AV junctional rhythm or with an enhanced lower (junctional or ventricular) pacemaker that competes with the normal sinus rhythm and exceeds it.
xref: SNOMEDCT_US:50799005
xref: UMLS:C0004331
is_a: HP:0005150 ! Abnormal atrioventricular conduction
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-11T07:46:37Z

[Term]
id: HP:0011710
name: Bundle branch block
def: "Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
comment: The Bundle of His conducts the electrical impulse from the atrioventricular node into the ventricles. The Bundle of His divides into right and left bundle branches. A universal feature of a bundle branch block is a prolongation of the time required for depolarization of a portion of the ventricles, reflected in an abnormality of the QRS complex.
synonym: "Bundle-branch block" EXACT []
xref: SNOMEDCT_US:6374002
xref: UMLS:C0006384
is_a: HP:0012722 ! Heart block
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-11T07:55:50Z

[Term]
id: HP:0011711
name: Left anterior fascicular block
def: "Conduction block in the anterior division of the left bundle branch of the bundle of His." [HPO_CONTRIBUTOR:DDD_dbrown]
synonym: "Left anterior hemiblock" EXACT []
xref: SNOMEDCT_US:37760005
xref: UMLS:C0264912
is_a: HP:0011713 ! Left bundle branch block
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-11T08:02:03Z

[Term]
id: HP:0011712
name: Complete right bundle branch block
def: "A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
synonym: "Right bundle branch block" EXACT []
synonym: "Right bundle-branch block" EXACT []
xref: SNOMEDCT_US:59118001
xref: UMLS:C0085615
is_a: HP:0011710 ! Bundle branch block
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-11T08:02:08Z

[Term]
id: HP:0011713
name: Left bundle branch block
def: "A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:63467002
xref: UMLS:C0023211
is_a: HP:0011710 ! Bundle branch block
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-11T08:04:34Z

[Term]
id: HP:0011714
name: Libman-Sacks lesions
def: "Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve." [PMID:18421506]
comment: Libman-Sacks lesions are y typical manifestation of systemic lupus erythematosus.
xref: UMLS:C4023221
is_a: HP:0100584 ! Endocarditis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-11T10:11:39Z

[Term]
id: HP:0011715
name: Trifascicular block
def: "Abnormal conduction in all three divisions of the intraventricular conducting tissue." [HPO_CONTRIBUTOR:DDD_dbrown]
xref: SNOMEDCT_US:86014007
xref: UMLS:C0155707
is_a: HP:0011710 ! Bundle branch block
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-11T08:10:14Z

[Term]
id: HP:0011716
name: Junctional ectopic tachycardia
def: "Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern." [PMID:22826742]
xref: SNOMEDCT_US:233901002
xref: SNOMEDCT_US:419166005
xref: UMLS:C0039235
is_a: HP:0011687 ! AV nodal tachycardia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-11T08:42:28Z

[Term]
id: HP:0011717
name: Atrioventricular reentrant tachycardia
def: "Accessory pathway-related atrioventricular reentrant tachycardia (AVRT) involves an abnormal electrical conduction of the accessory pathway. The accessory pathway connecting impulses between the atrium and the ventricle can be seen at any site in the AV groove." []
synonym: "AV nodal reentry tachycardia" EXACT []
xref: UMLS:C4023220
is_a: HP:0011687 ! AV nodal tachycardia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-11T08:42:52Z

[Term]
id: HP:0011718
name: Abnormality of the pulmonary veins
def: "An abnormality of the pulmonary veins." [https://orcid.org/0000-0002-0736-9199]
comment: The right superior, right inferior, left superior, and left inferior pulmonary veins carry oxygenated blood to the left atrium.
synonym: "Abnormality of lung veins" EXACT layperson []
xref: SNOMEDCT_US:111322000
xref: SNOMEDCT_US:128585006
xref: SNOMEDCT_US:199113001
xref: UMLS:C0265914
is_a: HP:0004930 ! Abnormality of the pulmonary vasculature
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-11T08:45:48Z

[Term]
id: HP:0011719
name: Supracardiac total anomalous pulmonary venous connection
def: "Type 1 total anomalous pulmonary venous connection." [HPO_CONTRIBUTOR:DDD_dbrown]
synonym: "Supracardiac total anomalous pulmonary venous connexion" EXACT uk_spelling []
synonym: "Total anomalous pulmonary venous connection, supracardiac" EXACT []
synonym: "Type 1 total anomalous pulmonary venous connection" EXACT []
xref: Fyler:0910
xref: Fyler:910
xref: UMLS:C4021131
is_a: HP:0005160 ! Total anomalous pulmonary venous return
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-11T08:50:39Z

[Term]
id: HP:0011720
name: Cardiac total anomalous pulmonary venous connection
def: "Type 2 total anomalous pulmonary venous connection." [HPO_CONTRIBUTOR:DDD_dbrown]
synonym: "Cardiac total anomalous pulmonary venous connexion" EXACT uk_spelling []
synonym: "Total anomalous pulmonary venous connection, intracardiac" EXACT []
synonym: "Type 2 total anomalous pulmonary venous connection" EXACT []
xref: Fyler:0920
xref: Fyler:0930
xref: Fyler:920
xref: Fyler:930
xref: UMLS:C4021130
is_a: HP:0005160 ! Total anomalous pulmonary venous return
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-11T08:51:32Z

[Term]
id: HP:0011721
name: Infracardiac total anomalous pulmonary venous connection
def: "Type 3 total anomalous pulmonary venous connection." [HPO_CONTRIBUTOR:DDD_dbrown]
synonym: "Infracardiac total anomalous pulmonary venous connexion" EXACT uk_spelling []
synonym: "Type 3 total anomalous pulmonary venous connection" EXACT []
xref: UMLS:C4021129
is_a: HP:0005160 ! Total anomalous pulmonary venous return
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-11T08:52:28Z

[Term]
id: HP:0011722
name: Mixed total anomalous pulmonary venous connection
def: "Type 4 total anomalous pulmonary venous connection." [HPO_CONTRIBUTOR:DDD_dbrown]
synonym: "Mixed total anomalous pulmonary venous connexion" EXACT uk_spelling []
synonym: "Total anomalous pulmonary venous connection, mixed" EXACT []
synonym: "Type 4 total anomalous pulmonary venous connection" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: Fyler:0950
xref: Fyler:950
xref: UMLS:C4021128
is_a: HP:0005160 ! Total anomalous pulmonary venous return
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-11T08:53:37Z

[Term]
id: HP:0011723
name: Congenital malformation of the right heart
def: "Defect or defects of the morphogenesis of the right heart identifiable at birth." []
xref: UMLS:C4023219
is_a: HP:0001627 ! Abnormal heart morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-11T08:56:19Z

[Term]
id: HP:0011724
name: Uhl's anomaly
def: "Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium." [PMID:10859296, PMID:16322929]
xref: SNOMEDCT_US:2829000
xref: UMLS:C0265857
is_a: HP:0011723 ! Congenital malformation of the right heart
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-11T08:59:07Z

[Term]
id: HP:0011725
name: Chaotic multifocal atrial tachycardia
xref: UMLS:C4023218
is_a: HP:0001692 ! Atrial arrhythmia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-11T09:01:14Z

[Term]
id: HP:0011726
name: Persistent fetal circulation
def: "Systemic desaturation of a liveborn baby resulting from persistent pulmonary hypertension with a patent ductus arteriosus and patent foramen ovale, such that the circulation in postnatal life follows the fetal course." [HPO_CONTRIBUTOR:DDD_dbrown]
synonym: "Persistent foetal circulation" EXACT uk_spelling []
xref: SNOMEDCT_US:206597007
xref: SNOMEDCT_US:233815004
xref: SNOMEDCT_US:35604006
xref: UMLS:C0031190
is_a: HP:0034190 ! Abnormal fetal cardiovascular physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-11T09:02:26Z

[Term]
id: HP:0011727
name: Peroneal muscle weakness
def: "Weakness of the peroneal muscles." [https://orcid.org/0000-0002-0736-9199]
comment: THe peroneal muscles (also known as fibularis muscles) originate from the fibula. The peroneal longus and brevis muscles are located on the lateral side of the leg, while peroneal tertius is on the anterior side.
synonym: "Fibularis muscle weakness" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C0240733
is_a: HP:0009053 ! Distal lower limb muscle weakness
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-11T10:26:15Z

[Term]
id: HP:0011728
name: Elbow clonus
def: "Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023217
is_a: HP:0002169 ! Clonus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-17T08:56:48Z

[Term]
id: HP:0011729
name: Abnormality of joint mobility
def: "An abnormality in the range and ease of motion of joints across their normal range." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023216
is_a: HP:0034430 ! Abnormal joint physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-18T07:09:28Z

[Term]
id: HP:0011730
name: Abnormal central sensory function
def: "An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of central sensory function" EXACT []
xref: UMLS:C4023215
is_a: HP:0012638 ! Abnormal nervous system physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-19T07:44:18Z

[Term]
id: HP:0011731
name: Abnormality of circulating cortisol level
def: "An abnormality of the concentration of cortisol in the blood." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023214
is_a: HP:0012111 ! Abnormality of circulating glucocorticoid level
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-21T07:59:26Z

[Term]
id: HP:0011732
name: Abnormal adrenal morphology
def: "Any structural anomaly of the adrenal glands." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of adrenal morphology" EXACT []
xref: UMLS:C4023213
is_a: HP:0000834 ! Abnormality of the adrenal glands
is_a: HP:0031071 ! Abnormal endocrine morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-21T08:04:29Z

[Term]
id: HP:0011733
name: Abnormality of adrenal physiology
alt_id: HP:0002855
def: "A functional abnormality of the adrenal glands." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023212
is_a: HP:0000834 ! Abnormality of the adrenal glands
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-21T08:05:42Z

[Term]
id: HP:0011734
name: Central adrenal insufficiency
def: "A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected." [https://orcid.org/0000-0002-0538-4547]
synonym: "Secondary adrenal insufficiency" EXACT []
xref: UMLS:C0948387
is_a: HP:0000846 ! Adrenal insufficiency
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-21T08:26:19Z

[Term]
id: HP:0011735
name: Adrenocorticotropin deficient adrenal insufficiency
def: "Adrenal insufficiency secondary to a defect in ACTH production." [https://orcid.org/0000-0002-0538-4547]
synonym: "ACTH deficient adrenal insufficiency" EXACT []
xref: UMLS:C4023211
is_a: HP:0011734 ! Central adrenal insufficiency
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-21T09:06:46Z

[Term]
id: HP:0011736
name: Primary hyperaldosteronism
def: "A form of hyperaldosteronism caused by a defect within the adrenal gland." [https://orcid.org/0000-0002-0538-4547]
xref: SNOMEDCT_US:190507007
xref: SNOMEDCT_US:258117004
xref: UMLS:C1384514
is_a: HP:0000859 ! Increased circulating aldosterone concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-21T09:26:05Z

[Term]
id: HP:0011737
name: Corticotropin-releasing hormone deficient adrenal insufficiency
def: "Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production." [https://orcid.org/0000-0002-0538-4547]
synonym: "CRH deficient adrenal insufficiency" EXACT []
synonym: "Tertiary adrenal insufficiency" EXACT []
xref: UMLS:C4021127
is_a: HP:0011734 ! Central adrenal insufficiency
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-21T09:09:56Z

[Term]
id: HP:0011738
name: Corticotropin-releasing hormone receptor defect
def: "Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor." [https://orcid.org/0000-0002-0538-4547]
synonym: "Corticotropin-releasing hormone receptor (CRHR) resistance" RELATED []
synonym: "CRHR defect" EXACT []
xref: UMLS:C4020745
xref: UMLS:C4023210
is_a: HP:0011734 ! Central adrenal insufficiency
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-21T09:11:04Z

[Term]
id: HP:0011739
name: Dexamethasone-suppressible primary hyperaldosteronism
def: "A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199]
synonym: "Familial primary hyperaldosteronism type 1" RELATED []
synonym: "Glucocorticoid-remediable familial primary aldosteronism" RELATED []
xref: UMLS:C4020743
xref: UMLS:C4020744
xref: UMLS:C4023209
is_a: HP:0011736 ! Primary hyperaldosteronism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-21T09:27:36Z

[Term]
id: HP:0011740
name: Glucocortocoid-insensitive primary hyperaldosteronism
def: "A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199]
synonym: "Familial primary hyperaldosteronism type 2" RELATED []
xref: UMLS:C4020742
xref: UMLS:C4023208
is_a: HP:0011736 ! Primary hyperaldosteronism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-21T09:29:51Z

[Term]
id: HP:0011741
name: Secondary hyperaldosteronism
def: "A form of hyperaldosteronism caused by abnormally increased renin levels." [https://orcid.org/0000-0002-0538-4547]
synonym: "Hyperreninemic hyperaldosteronism" EXACT []
xref: SNOMEDCT_US:67805000
xref: UMLS:C0271728
is_a: HP:0000859 ! Increased circulating aldosterone concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-21T09:32:28Z

[Term]
id: HP:0011742
name: Ectopic adrenal gland
def: "Abnormal anatomical location of the adrenal gland." [https://orcid.org/0000-0002-0538-4547]
synonym: "Abnormal adrenal gland position" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:49494003
xref: UMLS:C0266275
is_a: HP:0011732 ! Abnormal adrenal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-21T09:45:15Z

[Term]
id: HP:0011743
name: Adrenal gland agenesis
def: "Absent development of the adrenal gland." [https://orcid.org/0000-0002-0538-4547]
xref: SNOMEDCT_US:702615004
xref: SNOMEDCT_US:83190008
xref: UMLS:C0266273
is_a: HP:0008216 ! Adrenal gland dysgenesis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-21T09:46:49Z

[Term]
id: HP:0011744
name: Secondary hypercortisolism
def: "Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol." [https://orcid.org/0000-0002-0736-9199]
synonym: "ACTH-dependent hypercortisolemia" RELATED []
xref: UMLS:C4020741
xref: UMLS:C4023207
is_a: HP:0003118 ! Increased circulating cortisol level
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-21T11:46:27Z

[Term]
id: HP:0011745
name: Non-secretory adrenocortical adenoma
def: "An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones." [https://orcid.org/0000-0002-0538-4547]
synonym: "Non-secretory adrenal adenoma" EXACT []
xref: UMLS:C4021126
is_a: HP:0008256 ! Adrenocortical adenoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-21T11:55:18Z

[Term]
id: HP:0011746
name: Secretory adrenocortical adenoma
def: "An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones." [https://orcid.org/0000-0002-0538-4547]
synonym: "Secretory adrenal adenoma" EXACT []
xref: UMLS:C4021125
is_a: HP:0008256 ! Adrenocortical adenoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-21T11:58:38Z

[Term]
id: HP:0011747
name: Abnormality of the anterior pituitary
def: "An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland." [https://orcid.org/0000-0002-0538-4547]
synonym: "Pituitary disease" RELATED []
xref: SNOMEDCT_US:399244003
xref: UMLS:C0032002
xref: UMLS:C4023206
is_a: HP:0012503 ! Abnormal pituitary gland morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T11:17:00Z

[Term]
id: HP:0011748
name: Adrenocorticotropic hormone deficiency
def: "A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol." [https://orcid.org/0000-0002-0538-4547]
synonym: "ACTH deficiency" EXACT []
synonym: "Corticotropin deficiency" EXACT []
xref: SNOMEDCT_US:237692001
xref: UMLS:C0342388
is_a: HP:0000830 ! Anterior hypopituitarism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T11:27:04Z

[Term]
id: HP:0011749
name: Adrenocorticotropic hormone excess
def: "Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex." [https://orcid.org/0000-0002-0538-4547]
comment: This term refers to increased production of ACTH. If additionally hypercorticolism is present, this should be coded separated with HP:0011744.
synonym: "ACTH excess" EXACT []
xref: UMLS:C4021124
is_a: HP:0010514 ! Hyperpituitarism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T01:09:54Z

[Term]
id: HP:0011750
name: Neoplasm of the anterior pituitary
def: "A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland." [https://orcid.org/0000-0002-0538-4547]
synonym: "Neoplasm of the adenohypophysis" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Neoplasm of the pars anterior" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: NCIT:C3262
xref: UMLS:C4023205
is_a: HP:0011747 ! Abnormality of the anterior pituitary
is_a: HP:0040277 ! Neoplasm of the pituitary gland
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T01:18:46Z

[Term]
id: HP:0011751
name: Abnormal posterior pituitary morphogenesis
def: "An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the neurohypophysis" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Abnormality of the posterior pituitary" EXACT []
xref: UMLS:C4023204
is_a: HP:0012503 ! Abnormal pituitary gland morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T01:20:33Z

[Term]
id: HP:0011752
name: Neoplasm of the posterior pituitary
def: "The presence of a neoplasm (tumor) in the neurohypophysis, which is also known as the posterior lobe of the hypophysis." [https://orcid.org/0000-0002-0538-4547]
synonym: "Neoplasm of the neurohypophysis" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: NCIT:C3262
xref: UMLS:C1334957
is_a: HP:0011751 ! Abnormal posterior pituitary morphogenesis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T01:31:18Z

[Term]
id: HP:0011753
name: Posterior pituitary dysgenesis
def: "Abnormal development of the neurohypophysis during embryonic growth and development." [https://orcid.org/0000-0002-0538-4547]
synonym: "Neurohypophysis dysplasia" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Posterior pituitary dysplasia" EXACT []
xref: UMLS:C4021123
is_a: HP:0011751 ! Abnormal posterior pituitary morphogenesis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T01:42:04Z

[Term]
id: HP:0011754
name: Pituicytoma
def: "A solid, low grade, spindle cell, glial neoplasm of adults that originates in the neurohypophysis or infundibulum. Clinical signs and symptoms include visual disturbance, headache and features of hypopituitarism. Pituicytomas are well-circumscribed, solid masses that can measure up to several centimeters. Histologically, they show a compact architecture consisting of elongate, bipolar spindle cells arranged in interlacing fascicles or assuming a storiform pattern." [https://orcid.org/0000-0002-0538-4547, PMID:17618441, PMID:19109577]
xref: ICD-O:9432/1 "Pituicytoma"
xref: SNOMEDCT_US:450901008
xref: SNOMEDCT_US:608817003
xref: UMLS:C2986550
is_a: HP:0011752 ! Neoplasm of the posterior pituitary
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T01:34:00Z

[Term]
id: HP:0011755
name: Ectopic posterior pituitary
def: "An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199]
synonym: "Ectopic neurohypophysis" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Ectopic posterior pituitary lobe" EXACT []
xref: SNOMEDCT_US:715727009
xref: UMLS:C3279571
xref: UMLS:C4053775
is_a: HP:0011753 ! Posterior pituitary dysgenesis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T01:43:25Z

[Term]
id: HP:0011756
name: Posterior pituitary agenesis
def: "Absence of the neurohypophysis owing to a developmental defect." [https://orcid.org/0000-0002-0538-4547]
synonym: "Neurohypophysis agenesis" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4023203
is_a: HP:0011753 ! Posterior pituitary dysgenesis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T01:55:35Z

[Term]
id: HP:0011757
name: Posterior pituitary hypoplasia
def: "Underdevelopment of the neurohypophysis." [https://orcid.org/0000-0002-0538-4547]
synonym: "Neurohypophysis hypoplasia" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4023202
is_a: HP:0011753 ! Posterior pituitary dysgenesis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T01:56:23Z

[Term]
id: HP:0011758
name: Pituitary acidophilic stem cell adenoma
xref: UMLS:C4023201
is_a: HP:0002893 ! Pituitary adenoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T03:03:47Z

[Term]
id: HP:0011759
name: Pituitary gonadotropic cell adenoma
def: "A type of pituitary adenoma that produces gonadotropins." [https://orcid.org/0000-0002-0538-4547]
synonym: "Pituitary gonadotropinoma" EXACT []
xref: UMLS:C4021122
is_a: HP:0002893 ! Pituitary adenoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T03:37:35Z

[Term]
id: HP:0011760
name: Pituitary growth hormone cell adenoma
def: "A type of pituitary adenoma that produces growth hormone." [https://orcid.org/0000-0002-0538-4547]
synonym: "Pituitary somatotropinoma" EXACT []
xref: UMLS:C4018860
is_a: HP:0002893 ! Pituitary adenoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T03:38:10Z

[Term]
id: HP:0011761
name: Pituitary null cell adenoma
def: "A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess." [https://orcid.org/0000-0002-0538-4547]
synonym: "Clinically silent pituitary adenoma" EXACT []
synonym: "Hormonally silent pituitary adenoma" EXACT []
synonym: "Non-functional pituitary adenoma" EXACT []
synonym: "Silent pituitary adenoma" EXACT []
xref: SNOMEDCT_US:254962005
xref: UMLS:C0338078
is_a: HP:0002893 ! Pituitary adenoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T03:39:00Z

[Term]
id: HP:0011762
name: Pituitary thyrotropic cell adenoma
def: "A type of pituitary adenoma that produces thyroid stimulating hormone (TSH)." [https://orcid.org/0000-0002-0538-4547]
synonym: "Pituitary thyrotropinoma" EXACT []
xref: UMLS:C4021121
is_a: HP:0002893 ! Pituitary adenoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T03:42:08Z

[Term]
id: HP:0011763
name: Pituitary carcinoma
def: "A pituitary tumor with subarachnoid, brain, or systemic metastasis. The diagnosis of a pituitary carcinoma requires evidence of metastatic disease, either outside the central nervous system (CNS) or as separate noncontiguous foci within the CNS." [https://orcid.org/0000-0002-0538-4547, NCIT:C4536, PMID:15741248]
xref: SNOMEDCT_US:128665000
xref: SNOMEDCT_US:254955001
xref: UMLS:C0346300
is_a: HP:0011750 ! Neoplasm of the anterior pituitary
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T03:52:30Z

[Term]
id: HP:0011764
name: Pituitary spindle cell oncocytoma
def: "A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular." [https://orcid.org/0000-0002-0538-4547, PMID:21886889]
xref: UMLS:C4023200
is_a: HP:0011750 ! Neoplasm of the anterior pituitary
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T03:57:01Z

[Term]
id: HP:0011765
name: obsolete Ectopic anterior pituitary
is_obsolete: true
replaced_by: HP:0012731

[Term]
id: HP:0011766
name: Abnormal parathyroid morphology
def: "A structural abnormality of the parathyroid gland." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the parathyroid morphology" EXACT []
xref: UMLS:C4023199
is_a: HP:0000828 ! Abnormality of the parathyroid gland
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T04:08:26Z

[Term]
id: HP:0011767
name: Abnormality of the parathyroid physiology
def: "A functional abnormality of the parathyroid gland." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199]
synonym: "Parathyroid dysfunction" EXACT layperson []
synonym: "Parathyroid issue" BROAD layperson []
xref: UMLS:C4023198
is_a: HP:0000828 ! Abnormality of the parathyroid gland
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T04:09:13Z

[Term]
id: HP:0011768
name: Parathyroid dysgenesis
def: "Abnormal embryonic development of the parathyroid gland." [https://orcid.org/0000-0002-0538-4547]
xref: UMLS:C4023197
is_a: HP:0011766 ! Abnormal parathyroid morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T04:20:41Z

[Term]
id: HP:0011769
name: Ectopic parathyroid
def: "An abnormal anatomical location of the parathyroid gland." [https://orcid.org/0000-0002-0538-4547]
xref: UMLS:C4023196
is_a: HP:0011768 ! Parathyroid dysgenesis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T04:22:26Z

[Term]
id: HP:0011770
name: Tertiary hyperparathyroidism
def: "A type of hyperparathyroidism that occurs following kidney transplantation, which is a treatment for secondary hyperparathyroidism. Although kidney transplantation leads to a normalization of serum calcium and parathyroid hormone in most patients. The state of persistent hypercalcemia and hyperparathyroidism is referred to as tertiary hyperparathyroidism." [https://orcid.org/0000-0002-0538-4547]
xref: SNOMEDCT_US:78200003
xref: UMLS:C0271858
is_a: HP:0000843 ! Hyperparathyroidism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T04:38:20Z

[Term]
id: HP:0011771
name: Autoimmune hypoparathyroidism
def: "A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity." [https://orcid.org/0000-0002-0538-4547, PMID:19328421]
xref: SNOMEDCT_US:75316000
xref: UMLS:C0271865
is_a: HP:0000829 ! Hypoparathyroidism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T04:54:37Z

[Term]
id: HP:0011772
name: Abnormal thyroid morphology
def: "A structural abnormality of the thyroid gland." [https://orcid.org/0000-0002-0538-4547]
synonym: "Abnormal shape of thyroid gland" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of thyroid morphology" EXACT []
xref: UMLS:C4023195
is_a: HP:0000820 ! Abnormality of the thyroid gland
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T05:54:57Z

[Term]
id: HP:0011773
name: Uninodular goiter
def: "Enlargement of the thyroid gland related to a singular nodule in the thyroid gland." [https://orcid.org/0000-0002-0538-4547]
synonym: "Uninodular goitre" EXACT uk_spelling []
xref: SNOMEDCT_US:237569006
xref: UMLS:C0342205
is_a: HP:0005994 ! Nodular goiter
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T05:56:30Z

[Term]
id: HP:0011774
name: Thyroid follicular adenoma
xref: SNOMEDCT_US:255033000
xref: SNOMEDCT_US:255034006
xref: UMLS:C0151468
is_a: HP:0000854 ! Thyroid adenoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T06:01:31Z

[Term]
id: HP:0011775
name: Thyroid macrofollicular adenoma
xref: UMLS:C4023194
is_a: HP:0011774 ! Thyroid follicular adenoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T06:01:42Z

[Term]
id: HP:0011776
name: Thyroid microfollicular adenoma
xref: UMLS:C4023193
is_a: HP:0011774 ! Thyroid follicular adenoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T06:01:48Z

[Term]
id: HP:0011777
name: Thyroid papillary adenoma
xref: UMLS:C4023192
is_a: HP:0000854 ! Thyroid adenoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T06:02:12Z

[Term]
id: HP:0011778
name: Thyroid atypical adenoma
xref: UMLS:C4023191
is_a: HP:0000854 ! Thyroid adenoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T06:02:26Z

[Term]
id: HP:0011779
name: Anaplastic thyroid carcinoma
xref: SNOMEDCT_US:255031003
xref: UMLS:C0238461
is_a: HP:0002890 ! Thyroid carcinoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T06:02:52Z

[Term]
id: HP:0011780
name: Thyroid hemiagenesis
def: "Absence of a lobe of the thyroid gland related to a failure of its embryologic development." [https://orcid.org/0000-0002-0538-4547]
xref: SNOMEDCT_US:715734006
xref: UMLS:C4023190
is_a: HP:0033079 ! Aplasia/Hypoplasia of the thyroid gland
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T06:04:32Z

[Term]
id: HP:0011781
name: Thyroid C cell hyperplasia
def: "An abnormal growth of parafollicular (C-cells) cells." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199]
comment: Thyroid C cell hyperplasia usually occurs before the development of familial forms of medullary thyroid cancer and is considered a pre-cancerous condition.
xref: SNOMEDCT_US:237552009
xref: UMLS:C0342190
is_a: HP:0008249 ! Thyroid hyperplasia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T06:05:57Z

[Term]
id: HP:0011782
name: Thyroid crisis
xref: SNOMEDCT_US:29028009
xref: UMLS:C0040127
is_a: HP:0000836 ! Hyperthyroidism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T06:10:37Z

[Term]
id: HP:0011783
name: Thyrotoxicosis from ectopic thyroid tissue
xref: SNOMEDCT_US:87232008
xref: UMLS:C0154148
is_a: HP:0000836 ! Hyperthyroidism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T06:10:51Z

[Term]
id: HP:0011784
name: Thyrotoxicosis with diffuse goiter
synonym: "Thyrotoxicosis with diffuse goiter" EXACT []
xref: SNOMEDCT_US:267374005
xref: UMLS:C0342122
is_a: HP:0000836 ! Hyperthyroidism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T06:11:09Z

[Term]
id: HP:0011785
name: Thyrotoxicosis with toxic multinodular goiter
synonym: "Thyrotoxicosis with toxic multinodular goitre" EXACT uk_spelling []
xref: SNOMEDCT_US:26389007
xref: UMLS:C0154143
is_a: HP:0000836 ! Hyperthyroidism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T06:15:52Z

[Term]
id: HP:0011786
name: Thyrotoxicosis with toxic single thyroid nodule
xref: SNOMEDCT_US:69329005
xref: SNOMEDCT_US:73869005
xref: UMLS:C0154141
is_a: HP:0000836 ! Hyperthyroidism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T06:16:09Z

[Term]
id: HP:0011787
name: Central hypothyroidism
def: "A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects." [https://orcid.org/0000-0002-0538-4547, PMID:18415684]
xref: SNOMEDCT_US:26692000
xref: UMLS:C0271801
is_a: HP:0000821 ! Hypothyroidism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T06:25:45Z

[Term]
id: HP:0011788
name: Increased circulating free T3
def: "An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased circulating free triiodothyronine" EXACT []
synonym: "Increased serum free T3" EXACT []
synonym: "Increased serum free triiodothyronine" EXACT []
synonym: "Increased serum fT3" EXACT abbreviation []
xref: UMLS:C4021843
is_a: HP:0032209 ! Abnormal circulating free T3 concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T06:31:08Z

[Term]
id: HP:0011789
name: Impaired sensitivity to thyroid stimulating hormone
def: "Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH)." [PMID:28648507]
synonym: "Thyroid-stimulating hormone receptor defect" EXACT []
synonym: "TSHR defect" EXACT []
xref: UMLS:C4023189
is_a: HP:0002926 ! Abnormality of thyroid physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T06:32:33Z

[Term]
id: HP:0011790
name: Activating thyroid-stimulating hormone receptor defect
def: "Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect." [https://orcid.org/0000-0002-0538-4547]
synonym: "Activating TSHR defect" EXACT []
xref: UMLS:C4023188
is_a: HP:0011789 ! Impaired sensitivity to thyroid stimulating hormone
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T06:34:35Z

[Term]
id: HP:0011791
name: Inactivating thyroid-stimulating hormone receptor defect
def: "Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect." [https://orcid.org/0000-0002-0538-4547]
synonym: "Inactivating TSHR defect" EXACT []
xref: UMLS:C4023187
is_a: HP:0011789 ! Impaired sensitivity to thyroid stimulating hormone
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T06:35:14Z

[Term]
id: HP:0011792
name: Neoplasm by histology
def: "Neoplasm categorized according to type of histological abnormality." [https://orcid.org/0000-0002-9113-2978]
xref: UMLS:C4023186
is_a: HP:0002664 ! Neoplasm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T06:57:50Z

[Term]
id: HP:0011793
name: Neoplasm by anatomical site
def: "Neoplasm categorized according to the anatomical site of origin of the neoplasm." [https://orcid.org/0000-0002-9113-2978]
xref: UMLS:C4023185
is_a: HP:0002664 ! Neoplasm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T07:00:13Z

[Term]
id: HP:0011794
name: Embryonal renal neoplasm
def: "The presence of an embryonal neoplasm of the kidney that primarily affects children." [https://orcid.org/0000-0002-9113-2978]
xref: UMLS:C4023184
is_a: HP:0002898 ! Embryonal neoplasm
is_a: HP:0009726 ! Renal neoplasm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T07:44:34Z

[Term]
id: HP:0011795
name: Intralobar nephroblastomatosis
def: "Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it)." [https://orcid.org/0000-0002-9113-2978]
xref: SNOMEDCT_US:405934001
xref: UMLS:C1319016
is_a: HP:0008643 ! Nephroblastomatosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T07:50:10Z

[Term]
id: HP:0011796
name: Perilobar nephroblastomatosis
def: "Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar)." [https://orcid.org/0000-0002-9113-2978]
xref: SNOMEDCT_US:405935000
xref: UMLS:C1319017
is_a: HP:0008643 ! Nephroblastomatosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T07:50:25Z

[Term]
id: HP:0011797
name: Papillary renal cell carcinoma type 1
def: "A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli." [https://orcid.org/0000-0002-9113-2978, PMID:12429790]
xref: UMLS:C1336839
is_a: HP:0006766 ! Papillary renal cell carcinoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T08:03:34Z

[Term]
id: HP:0011798
name: Renal oncocytoma
def: "A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm." [https://orcid.org/0000-0002-9113-2978]
comment: Renal oncocytoma is seen in Birt-Hogg-Dube syndrome (OMIM 135150).
xref: SNOMEDCT_US:254922006
xref: UMLS:C0346255
is_a: HP:0009726 ! Renal neoplasm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-22T08:13:36Z

[Term]
id: HP:0011799
name: Abnormality of facial soft tissue
synonym: "Abnormality of facial soft tissue" EXACT layperson []
synonym: "Anomaly of facial soft tissue" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of facial soft tissue" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of facial soft tissue" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023183
is_a: HP:0000271 ! Abnormality of the face
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-23T07:27:57Z

[Term]
id: HP:0011800
name: Midface retrusion
alt_id: HP:0040199
def: "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [https://orcid.org/0000-0002-9602-2321, PMID:19125436]
subset: hposlim_core
synonym: "Decreased projection of midface" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased size of midface" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Flat midface" EXACT []
synonym: "Hypoplasia of midface" EXACT []
synonym: "Hypotrophic midface" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Midface deficiency" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Midface hypoplasia" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Midface retrusion" EXACT layperson []
synonym: "Midface, flat" EXACT []
synonym: "Retrusive midface" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Small midface" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Underdevelopment of midface" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1853242
xref: UMLS:C2673410
xref: UMLS:C4280320
xref: UMLS:C4280321
is_a: HP:0000309 ! Abnormal midface morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-24T07:46:05Z

[Term]
id: HP:0011801
name: Enlargement of parotid gland
def: "Increased size of the parotid gland." [https://orcid.org/0000-0002-9602-2321]
synonym: "Hyperplasia of parotid gland" EXACT []
synonym: "Hypertrophy of parotid gland" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased size of parotid gland" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:29748005
xref: UMLS:C0341047
is_a: HP:0000197 ! Abnormal parotid gland morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-24T07:59:05Z

[Term]
id: HP:0011802
name: Hamartoma of tongue
def: "A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue." [https://orcid.org/0000-0002-0736-9199, PMID:17667541]
synonym: "Lingual hamartoma" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:253753005
xref: UMLS:C0431565
is_a: HP:0100648 ! Neoplasm of the tongue
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-24T08:02:16Z

[Term]
id: HP:0011803
name: Bifid nose
def: "Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip." [PMID:19152422]
comment: This is a bundled term, but as it is useful in practice it is kept here. If it is only an indentation or cleft of the nasal tip, this should be coded as Bifid nasal tip.
subset: hposlim_core
synonym: "Bifid nasal bridge" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Cleft nasal bridge" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Cleft nose" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Indentation or clefting of the nose" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Indented bridge of nose" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:204521002
xref: UMLS:C0221363
xref: UMLS:C4280318
xref: UMLS:C4280319
is_a: HP:0004122 ! Midline defect of the nose
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-25T08:09:58Z

[Term]
id: HP:0011804
name: Abnormal muscle physiology
def: "A functional abnormality of a skeletal muscle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of muscle physiology" EXACT []
synonym: "Issue with muscle function" EXACT layperson []
xref: UMLS:C4023182
is_a: HP:0003011 ! Abnormality of the musculature
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-25T02:00:15Z

[Term]
id: HP:0011805
name: Abnormal skeletal muscle morphology
alt_id: HP:0003735
def: "A structural abnormality of a skeletal muscle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal muscle morphology" EXACT []
synonym: "Abnormality of muscle morphology" EXACT []
synonym: "Abnormally shaped muscle" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Issue with muscle structure" EXACT layperson []
xref: UMLS:C4023181
is_a: HP:0003011 ! Abnormality of the musculature
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-25T02:00:34Z

[Term]
id: HP:0011807
name: Type 1 muscle fiber atrophy
def: "Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy." [https://orcid.org/0000-0002-0736-9199]
synonym: "Type 1 muscle fibre atrophy" EXACT uk_spelling []
xref: UMLS:C4023180
is_a: HP:0100295 ! Muscle fiber atrophy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-26T12:05:14Z

[Term]
id: HP:0011808
name: Decreased patellar reflex
def: "Decreased intensity of the patellar reflex (also known as the knee jerk reflex)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased knee jerk reflex" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Decreased patellar reflexes" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C3277184
is_a: HP:0002600 ! Hyporeflexia of lower limbs
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-27T08:38:22Z

[Term]
id: HP:0011809
name: Paradoxical myotonia
def: "A type of myotonia that worsens with repeated muscle contractions." [https://orcid.org/0000-0002-0736-9199, PMID:7678441]
comment: In classic myotonia the myotonia improves as muscles warm up, whereas in paradoxical myotonia (paramyotonia) it worsens with repeated muscle contractions.
xref: UMLS:C4023179
is_a: HP:0002486 ! Myotonia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-27T01:20:08Z

[Term]
id: HP:0011810
name: Impaired two-point discrimination
def: "A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart." [https://orcid.org/0000-0002-0736-9199]
comment: A normal individual can sense about a 3 mm separation of points on the fingertips.
xref: UMLS:C4023178
is_a: HP:0011730 ! Abnormal central sensory function
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-28T02:50:12Z

[Term]
id: HP:0011811
name: Impaired touch localization
def: "A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip." [https://orcid.org/0000-0002-0736-9199]
synonym: "Impaired topognosis" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Impaired touch localisation" EXACT uk_spelling []
xref: UMLS:C4021120
is_a: HP:0011730 ! Abnormal central sensory function
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-28T02:54:44Z

[Term]
id: HP:0011812
name: Agraphesthesia
def: "Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination)." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1328618
is_a: HP:0011730 ! Abnormal central sensory function
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-28T02:56:29Z

[Term]
id: HP:0011813
name: Increased cerebral lipofuscin
def: "Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient." [https://orcid.org/0000-0002-0736-9199, PMID:9531959]
xref: UMLS:C4023177
is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-28T03:17:57Z

[Term]
id: HP:0011814
name: Increased urinary hypoxanthine level
def: "The concentration of hypoxanthine in the urine, normalized for urine concentration, is above the upper limit of normal." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C3810487
is_a: HP:0040425 ! Abnormal urinary hypoxanthine level
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-28T03:38:52Z

[Term]
id: HP:0011815
name: Cephalocele
def: "A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect." [https://orcid.org/0000-0002-0736-9199, PMID:24931720]
comment: A cephalocele is a rare birth defect that is characterized by a sac-like mass protruding through a defective opening in the skull. The sac varies in size that typically consists of herniated meninges and brain tissue (meningoencephalocele or encephalocele) or fragments of disorganized neural tissue. Alternatively, the sac may contain only the meninges (cranial meningocele) or it may include part of the ventricle filled with CSF (encephalocystocele) covered by skin (from PMID:24931720).
xref: SNOMEDCT_US:253101008
xref: SNOMEDCT_US:48777005
xref: SNOMEDCT_US:55999004
xref: UMLS:C0014065
is_a: HP:0000929 ! Abnormal skull morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-29T09:04:09Z

[Term]
id: HP:0011816
name: Parietal encephalocele
def: "An encephalocele located between bregma and lambda." [https://orcid.org/0000-0002-2972-5481, PMID:2773494]
xref: SNOMEDCT_US:253109005
xref: UMLS:C0431294
is_a: HP:0002084 ! Encephalocele
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-29T09:07:38Z

[Term]
id: HP:0011817
name: Basal encephalocele
def: "Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares." [https://orcid.org/0000-0002-0736-9199, PMID:4966739]
comment: The skull base is made up of the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae.
xref: UMLS:C4023176
is_a: HP:0002084 ! Encephalocele
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-29T09:14:34Z

[Term]
id: HP:0011818
name: Nasofrontal encephalocele
synonym: "Naso-frontal encephalocele" EXACT []
xref: SNOMEDCT_US:253106003
xref: UMLS:C0431291
is_a: HP:0007330 ! Frontoethmoidal encephalocele
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-29T09:20:25Z

[Term]
id: HP:0011819
name: Submucous cleft soft palate
def: "A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue." [https://orcid.org/0000-0002-0736-9199]
comment: Often, submucous cleft palate is associated with bifid uvula, but this should be coded separately. The muscles of the soft palate may not function properly, leading to speech problems, middle ear disease, and swallowing difficulties.
subset: hposlim_core
synonym: "Partial thickness cleft soft palate" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Submucous cleft velum" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023175
is_a: HP:0000185 ! Cleft soft palate
is_a: HP:5201016 ! Submucous cleft palate
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-29T09:49:02Z

[Term]
id: HP:0011820
name: Membranous choanal atresia
def: "Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike." [HPO_CONTRIBUTOR:DDD_jhurst]
xref: UMLS:C4023174
is_a: HP:0000453 ! Choanal atresia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-29T01:12:43Z

[Term]
id: HP:0011821
name: Abnormal facial skeleton morphology
def: "An abnormality of one or more of the set of bones that make up the facial skeleton." [https://orcid.org/0000-0002-2972-5481]
comment: The facial skeleton comprises the mandible, maxilla, frontal bone, nasal bones, and zygoma, as well as the inferior nasal concha, the lacrimal bones, the palatine bone, and the vomer.
synonym: "Abnormality of facial bones" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of facial skeleton" EXACT layperson []
synonym: "Anomaly of facial bones" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Anomaly of facial skeleton" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of facial skeleton" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of the facial bones" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of facial bones" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of facial skeleton" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:433096001
xref: UMLS:C2315229
is_a: HP:0000929 ! Abnormal skull morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-29T04:37:30Z

[Term]
id: HP:0011822
name: Broad chin
def: "Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue." [PMID:19125436]
subset: hposlim_core
synonym: "Broad chin" EXACT layperson []
synonym: "Increased width of chin" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased width of menton region" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Wide chin" EXACT layperson []
xref: UMLS:C4023172
is_a: HP:0000306 ! Abnormality of the chin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-30T08:23:35Z

[Term]
id: HP:0011823
name: Chin with horizontal crease
def: "Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest." [PMID:19125436]
synonym: "Chin with horizontal crease" EXACT layperson []
synonym: "Chin with horizontal furrow" EXACT []
synonym: "Chin with horizontal groove" EXACT layperson []
synonym: "Chin with horizontal sulcus" EXACT []
synonym: "Horizontal chin skin cleft" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Horizontal menton crease" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023171
is_a: HP:0000306 ! Abnormality of the chin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-30T08:33:02Z

[Term]
id: HP:0011824
name: Chin with H-shaped crease
def: "H-shaped crease in the fat pad of the chin." [PMID:19125436]
comment: The H-shape must be distinguished from Vertical crease of the chin.
synonym: "Chin with H-shaped crease" EXACT layperson []
synonym: "Chin, H-Shaped Crease" EXACT layperson []
synonym: "Chin, H-shaped groove" EXACT layperson []
synonym: "H-shaped dimple of the chin" EXACT layperson []
xref: UMLS:C1860309
is_a: HP:0000306 ! Abnormality of the chin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-04-30T08:34:24Z

[Term]
id: HP:0011825
name: Tented philtrum
def: "Prominence of a triangular soft tissue area of the philtrum with the apex to the columella." [PMID:19152422]
comment: A tented philtrum may accompany a Smooth philtrum. If present this should be coded separately.
subset: hposlim_core
synonym: "Philtrum, Tented" EXACT []
xref: UMLS:C4021119
is_a: HP:0000288 ! Abnormality of the philtrum
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-01T10:32:31Z

[Term]
id: HP:0011826
name: Philtrum with midline raphe
def: "Narrow ridge in the midline of the philtral groove." [PMID:19152422]
comment: The ridge may be very subtly elevated.
subset: hposlim_core
synonym: "Philtrum with central raphe" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Philtrum with midline ridge" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Philtrum, midline raphe" EXACT []
xref: UMLS:C4021118
is_a: HP:0000288 ! Abnormality of the philtrum
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-01T10:33:46Z

[Term]
id: HP:0011827
name: Malaligned philtral ridges
def: "Absence of the usual parallel position of philtral ridges." [PMID:19152422]
comment: Hajnis [1972] has described downwards convergent, downwards divergent (trapezoid or triangular), convex (ovoid), and concave philtral configurations. Any of these findings may be coded using this term.
subset: hposlim_core
synonym: "Asymmetric philtral columns" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Asymmetric philtral ridges" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Malaligned philtral columns" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Philtral Ridges, Malaligned" EXACT []
xref: UMLS:C4021117
is_a: HP:0000288 ! Abnormality of the philtrum
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-01T10:35:32Z

[Term]
id: HP:0011828
name: Midline sinus of philtrum
def: "Pit in the midline of the philtral groove." [PMID:19152422]
comment: Although congenital sinuses of the lips generally occur in the lower lip, in rare instances they may appear in the philtrum of the upper lip, commonly close to the insertion of the columella.
subset: hposlim_core
synonym: "Central sinus of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Philtrum, Midline Sinus" EXACT []
xref: UMLS:C4021116
is_a: HP:0000288 ! Abnormality of the philtrum
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-01T10:36:55Z

[Term]
id: HP:0011829
name: Narrow philtrum
def: "Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum." [PMID:19152422]
comment: Although congenital sinuses of the lips generally occur in the lower lip, in rare instances they may appear in the philtrum of the upper lip, commonly close to the insertion of the columella.
subset: hposlim_core
synonym: "Decreased breadth of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased horizontal dimension of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased transverse dimension of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased width of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Philtrum, Narrow" EXACT []
synonym: "Thin philtrum" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4021115
is_a: HP:0000288 ! Abnormality of the philtrum
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-01T10:38:12Z

[Term]
id: HP:0011830
name: Abnormal oral mucosa morphology
def: "Abnormality of the oral mucosa." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Abnormality of lining of mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of mucosa of mouth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of oral mucosa" EXACT []
synonym: "Abnormality of oral mucous membrane" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4023170
is_a: HP:0000163 ! Abnormal oral cavity morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-01T10:43:40Z

[Term]
id: HP:0011831
name: Deviated nasal tip
def: "Nasal tip positioned to one side of the midline." [PMID:19152422]
comment: There is no specific minimal angle before the tip can be determined to be deviated. The assessment of a mild degree of deviation is highly dependant on the experience of the observer. A deviated nasal septum can accompany a deviated nasal tip.
synonym: "Asymmetry of nasal tip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Asymmetry of tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Crooked nasal tip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Crooked tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deviated nasal tip" EXACT layperson []
synonym: "Deviated tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Distortion of the nasal tip" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Nasal tip, deviated" EXACT []
xref: UMLS:C4021114
xref: UMLS:C4280271
is_a: HP:0000436 ! Abnormal nasal tip morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-01T07:37:48Z

[Term]
id: HP:0011832
name: Narrow nasal tip
def: "Decrease in width of the nasal tip." [PMID:19152422]
comment: Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available.
subset: hposlim_core
synonym: "Narrow nasal tip" EXACT layperson []
synonym: "Narrow tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Nasal tip, narrow" EXACT layperson []
synonym: "Nasal tip, pinched" EXACT layperson []
synonym: "Pinched nasal tip" EXACT layperson []
synonym: "Pinched tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thin nasal tip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thin tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:249331008
xref: UMLS:C0426433
is_a: HP:0000436 ! Abnormal nasal tip morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-01T07:39:09Z

[Term]
id: HP:0011833
name: Overhanging nasal tip
def: "Positioning of the nasal tip inferior to the nasal base." [PMID:19152422]
comment: This finding is often associated with a long nasal ridge. It is best appreciated in profile. This may also coexist with a Depressed nasal tip and Low insertion of the columella and should be coded separately.
subset: hposlim_core
synonym: "Drooping nasal tip" EXACT layperson []
synonym: "Hooked tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Low hanging nasal tip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Nasal tip, overhanging" EXACT layperson []
synonym: "Overhanging nasal tip" EXACT layperson []
xref: SNOMEDCT_US:249328007
xref: UMLS:C0426430
is_a: HP:0000436 ! Abnormal nasal tip morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-01T07:42:15Z

[Term]
id: HP:0011834
name: Moyamoya phenomenon
def: "A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis." [https://orcid.org/0000-0002-0736-9199]
comment: Cerebral angiography shows puff-of-smoke (moyamoya) collaterals at the base of the brain.
xref: UMLS:C4023169
is_a: HP:0009145 ! Abnormal cerebral artery morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-05T03:24:26Z

[Term]
id: HP:0011835
name: Absent scaphoid
def: "Congenital absence of the scaphoid.." [HPO_CONTRIBUTOR:DDD_jcampbell]
synonym: "Absent scaphoid bone" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Missing scaphoid bone" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1847189
is_a: HP:0004231 ! Carpal bone aplasia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-05T07:37:35Z

[Term]
id: HP:0011836
name: Delayed talus ossification
def: "Delayed maturation and calcification of the talus." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023168
is_a: HP:0008365 ! Abnormal talus morphology
is_a: HP:0008369 ! Abnormal tarsal ossification
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-05T08:39:24Z

[Term]
id: HP:0011837
name: Partial IgA deficiency
def: "Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023167
is_a: HP:0002720 ! Decreased circulating IgA concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-06T09:42:01Z

[Term]
id: HP:0011838
name: Sclerodactyly
def: "Localized thickening and tightness of the skin of the fingers or toes." [https://orcid.org/0000-0002-0736-9199]
xref: ICD-10:L94.3 "Sclerodactyly"
xref: SNOMEDCT_US:201051000
xref: SNOMEDCT_US:298285004
xref: UMLS:C0150988
is_a: HP:0001072 ! Thickened skin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-06T10:04:27Z

[Term]
id: HP:0011839
name: Abnormal T cell count
def: "Abnormal increase or decrease of absolute number of T cells or of a subset of T cells, commonly characterized as CD3+ lymphocytes, in the blood, per microlitre, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells." [https://orcid.org/0000-0002-0736-9199, PMID:22420532]
synonym: "Abnormal number of T cells" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Abnormality of T cell number" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C4021113
is_a: HP:0002843 ! Abnormal T cell morphology
is_a: HP:0040088 ! Abnormal lymphocyte count
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-06T10:43:44Z

[Term]
id: HP:0011840
name: Abnormality of T cell physiology
alt_id: HP:0002844
alt_id: HP:0005373
alt_id: HP:0005383
alt_id: HP:0005402
alt_id: HP:0005409
alt_id: HP:0005435
def: "A functional anomaly of T cells." [https://orcid.org/0000-0002-0736-9199]
synonym: "Impaired T cell function" EXACT layperson []
xref: UMLS:C4023166
is_a: HP:0031409 ! Abnormal lymphocyte physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-06T10:44:50Z

[Term]
id: HP:0011841
name: Ventricular flutter
def: "A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance." [https://orcid.org/0000-0002-0736-9199]
comment: If untreated, ventricular flutter typically progresses to ventricular fibrillation.
xref: SNOMEDCT_US:111288001
xref: UMLS:C0152173
is_a: HP:0004756 ! Ventricular tachycardia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-06T06:46:54Z

[Term]
id: HP:0011842
name: Abnormal skeletal morphology
def: "An abnormality of the form, structure, or size of the skeletal system." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of skeletal morphology" EXACT []
synonym: "Abnormally shaped skeletal" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023165
is_a: HP:0000924 ! Abnormality of the skeletal system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-07T08:08:37Z

[Term]
id: HP:0011843
name: Abnormal musculoskeletal physiology
def: "An abnormality of the function of the skeletal system." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of musculoskeletal physiology" EXACT []
xref: UMLS:C4023164
is_a: HP:0033127 ! Abnormality of the musculoskeletal system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-07T08:09:43Z

[Term]
id: HP:0011844
name: Abnormal appendicular skeleton morphology
def: "An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023163
is_a: HP:0011842 ! Abnormal skeletal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-07T08:12:26Z

[Term]
id: HP:0011845
name: Short second metatarsal
def: "Short (hypoplastic) second metatarsal bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Short 2nd long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023162
is_a: HP:0010743 ! Short metatarsal
is_a: HP:0040034 ! Abnormality of the second metatarsal bone
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-08T07:36:00Z

[Term]
id: HP:0011846
name: Osteoblastoma
def: "A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:55333008
xref: UMLS:C0029417
is_a: HP:0010622 ! Neoplasm of the skeletal system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-09T08:34:41Z

[Term]
id: HP:0011847
name: Giant cell tumor of bone
def: "A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts." [https://orcid.org/0000-0002-0736-9199]
synonym: "Giant cell tumour of bone" EXACT uk_spelling []
xref: SNOMEDCT_US:57500000
xref: SNOMEDCT_US:697970009
xref: UMLS:C0206638
is_a: HP:0010622 ! Neoplasm of the skeletal system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-09T08:35:52Z

[Term]
id: HP:0011848
name: Abdominal colic
def: "A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity." []
comment: Colicky abdominal pain can be caused by kidney stones and gallstones, among other etiologies. This type of pain is thought to be caused by spasm, obstruction, or distension of any of the hollow viscera of the gastrointestinal system.
xref: SNOMEDCT_US:9991008
xref: UMLS:C0232488
is_a: HP:0002027 ! Abdominal pain
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-05-12T07:17:45Z

[Term]
id: HP:0011849
name: Abnormal bone ossification
def: "Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance." [https://orcid.org/0000-0002-0736-9199, PMID:18157903]
comment: All bones are formed by the replacement by osteocytes of mesenchyme-derived connective tissue. Intramembranous ossification refers to the direct replacement of primitive mesenchyme with bone, and is responsible for bones such as the calvarium (e.g., frontals, parietals, interparietal) and the clavicula. In endochondral ossification, the mesenchyme differentiates into a cartilaginous intermediate, which serves as a template (anlange) that is subsequently removed and replaced by bone. Most bones are formed via endochondral ossification, including those at the base of the skull, the vertebral column, pectoral and pelvic regions and long bones of the extremities. A reduction in the amount of mineralized bone compared with that expected for a given developmental age. In clinicakl parlance, reduced ossification and delayed ossification are often used synonymously, but in principle a bone delayed ossification in a child can display normal ossification at a later developmental stage. The HPO will therefore treat poor, reduced, and decreased officiation as synonymous, and delayed ossification as a specific kind of reduced ossification.
synonym: "Abnormal bone maturation" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
xref: MP:0008271 "Abnormal bone ossification"
xref: UMLS:C4023161
xref: UMLS:C4280317
is_a: HP:0003330 ! Abnormal bone structure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-15T07:39:58Z

[Term]
id: HP:0011850
name: Parotitis
def: "Inflammation of the parotid gland." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:14756005
xref: UMLS:C0030583
is_a: HP:0000197 ! Abnormal parotid gland morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-05-21T10:33:44Z

[Term]
id: HP:0011851
name: Hemopericardium
def: "Accumulation of blood within the pericardial sac." [https://orcid.org/0000-0002-0736-9199, PMID:10882282]
xref: SNOMEDCT_US:23412002
xref: UMLS:C0019064
is_a: HP:0001698 ! Pericardial effusion
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-05-21T10:43:03Z

[Term]
id: HP:0011852
name: Chylopericardium
def: "Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:233890005
xref: UMLS:C0242426
is_a: HP:0001698 ! Pericardial effusion
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-05-21T10:44:29Z

[Term]
id: HP:0011853
name: Serous pericardial effusion
def: "Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023160
is_a: HP:0001698 ! Pericardial effusion
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-05-21T10:49:08Z

[Term]
id: HP:0011854
name: Hemoperitoneum
def: "Accumulation of blood in the peritoneal cavity owing to internal hemorrhage." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hematoperitoneum" RELATED [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:443826006
xref: SNOMEDCT_US:45626005
xref: UMLS:C0019065
xref: UMLS:C0744735
is_a: HP:0002585 ! Abnormal peritoneum morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-05-21T10:55:34Z

[Term]
id: HP:0011855
name: Pharyngeal edema
def: "Abnormal accumulation of fluid leading to swelling of the pharynx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Pharyngeal oedema" EXACT uk_spelling []
synonym: "Swollen throat" EXACT []
synonym: "Throat swelling" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:2129002
xref: UMLS:C0236024
is_a: HP:0000969 ! Edema
is_a: HP:0033151 ! Abnormal pharynx morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-05-21T11:02:52Z

[Term]
id: HP:0011856
name: Pica
def: "An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:14077003
xref: UMLS:C0031873
is_a: HP:0100738 ! Abnormal eating behavior
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-05-21T11:08:54Z

[Term]
id: HP:0011857
name: Plasmacytoma
def: "A discrete mass of neoplastic monoclonal plasma cells either in the bone marrow or in an extramedullary location." [https://orcid.org/0000-0002-0736-9199]
comment: Plasmacytoma often generalizes to multiple myeloma over the course of several years.
xref: SNOMEDCT_US:10639003
xref: SNOMEDCT_US:415112005
xref: UMLS:C0032131
is_a: HP:0004377 ! Hematological neoplasm
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-05-21T11:34:44Z

[Term]
id: HP:0011858
name: Reduced factor IX activity
def: "Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa." [https://orcid.org/0000-0002-0736-9199]
comment: Severe deficiency of factor IX underlies hemophilia B.
synonym: "Low factor IX activity" EXACT []
xref: UMLS:C4023159
is_a: HP:0033062 ! Abnormal factor IX activity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-26T11:35:57Z

[Term]
id: HP:0011859
name: Punctate keratitis
def: "A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:416300008
xref: UMLS:C1562761
is_a: HP:0000491 ! Keratitis
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-05-21T12:18:03Z

[Term]
id: HP:0011860
name: Metaphyseal dappling
def: "The presence of spots or rounded patches of abnormally increased density of metaphyseal bone." [https://orcid.org/0000-0002-0736-9199]
comment: This finding is characteristic of Strudwick type of spondyloepimetaphyseal dysplasia.
synonym: "Dappled metaphyseal sclerosis" EXACT []
xref: UMLS:C4020907
is_a: HP:0004979 ! Metaphyseal sclerosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-26T04:09:07Z

[Term]
id: HP:0011861
name: Bilateral trilobed lung
def: "Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bilateral trilobed lungs" EXACT plural_form []
xref: SNOMEDCT_US:448648001
xref: UMLS:C3164377
is_a: HP:0002101 ! Abnormal lung lobation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-27T01:09:21Z

[Term]
id: HP:0011862
name: Abnormal bone collagen fibril morphology
def: "Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity." [https://orcid.org/0000-0002-0736-9199, MP:0011642]
xref: UMLS:C4023158
is_a: HP:0003330 ! Abnormal bone structure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-27T01:32:04Z

[Term]
id: HP:0011863
name: Abnormal sternal ossification
alt_id: HP:0006624
def: "Any anomaly in the formation of the bony substance of the sternum." [https://orcid.org/0000-0002-0736-9199]
comment: The sternum develops from two cartilaginous bars, situated one on either side of the median plane and connected with the cartilages of the upper nine ribs of its own side. During development, the two cartilaginous bars fuse with each other to form the cartilaginous sternum. This in turn is ossified from six centers: one in the manubrium, four in the body of the sternum, and one in the xiphoid process.
synonym: "Abnormal maturation of breastbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Sternal ossification center abnormalities" EXACT []
synonym: "Sternal ossification centre abnormalities" EXACT uk_spelling []
xref: UMLS:C1860243
is_a: HP:0000766 ! Abnormal sternum morphology
is_a: HP:0003336 ! Abnormal enchondral ossification
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-27T04:08:55Z

[Term]
id: HP:0011864
name: Elevated plasma pyrophosphate
def: "An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023157
is_a: HP:0100529 ! Abnormal blood phosphate concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-28T06:05:24Z

[Term]
id: HP:0011867
name: Abnormal iliac wing morphology
def: "An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the wing of the ilium" EXACT []
xref: UMLS:C4023156
is_a: HP:0002867 ! Abnormal ilium morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-28T07:23:30Z

[Term]
id: HP:0011868
name: Sciatica
def: "Pain in the lower back and hip radiating in the distribution of the sciatic nerve." [https://orcid.org/0000-0002-0736-9199, PMID:17872935]
xref: SNOMEDCT_US:23056005
xref: UMLS:C0036396
is_a: HP:0003418 ! Back pain
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-28T10:34:09Z

[Term]
id: HP:0011869
name: Abnormal platelet function
def: "Any anomaly in the function of thrombocytes." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C0855740
is_a: HP:0001872 ! Abnormality of thrombocytes
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-30T05:32:11Z

[Term]
id: HP:0011870
name: Impaired arachidonic acid-induced platelet aggregation
def: "Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid." [https://orcid.org/0000-0002-7744-1790]
xref: UMLS:C4023155
is_a: HP:0003540 ! Impaired platelet aggregation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-30T05:37:07Z

[Term]
id: HP:0011871
name: Impaired ristocetin-induced platelet aggregation
def: "Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin." [https://orcid.org/0000-0002-7744-1790]
xref: UMLS:C4023154
is_a: HP:0003540 ! Impaired platelet aggregation
is_a: HP:0012146 ! Abnormality of von Willebrand factor
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-30T05:39:52Z

[Term]
id: HP:0011872
name: Impaired thrombin-induced platelet aggregation
def: "Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics)." [https://orcid.org/0000-0002-7744-1790]
xref: UMLS:C4023153
is_a: HP:0003540 ! Impaired platelet aggregation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-30T05:41:52Z

[Term]
id: HP:0011873
name: Abnormal platelet count
def: "Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood." [https://orcid.org/0000-0002-4381-2442]
xref: SNOMEDCT_US:165558001
xref: UMLS:C0580317
is_a: HP:0011875 ! Abnormal platelet morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-30T08:11:13Z

[Term]
id: HP:0011874
name: Heparin-induced thrombocytopenia
def: "Low platelet count following administration of unfractionated or (less commonly) low-molecular weight heparin." [https://orcid.org/0000-0002-0736-9199, PMID:16928996]
comment: A delay of 5-10 days following administration of heparin is common in patients with no previous (or remote) exposure to heparin, but the drop in platelet count may be precipitous in patients with recent exposure. Heparin-induced thrombocytopenia is caused by antibodies against platelet factor 4.
xref: SNOMEDCT_US:73397007
xref: UMLS:C0272285
is_a: HP:0001873 ! Thrombocytopenia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-30T08:31:16Z

[Term]
id: HP:0011875
name: Abnormal platelet morphology
def: "An anomaly in platelet form, ultrastructure, or intracellular organelles." [https://orcid.org/0000-0002-4381-2442]
synonym: "Abnormal shape of platelets" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C0855742
is_a: HP:0001872 ! Abnormality of thrombocytes
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-31T03:43:59Z

[Term]
id: HP:0011876
name: Abnormal platelet volume
def: "Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023152
is_a: HP:0011875 ! Abnormal platelet morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-31T03:46:13Z

[Term]
id: HP:0011877
name: Increased mean platelet volume
def: "Average platelet volume above the upper limit of the normal reference interval." [https://orcid.org/0000-0002-7744-1790]
comment: Mean platelet volume (MPV) is a measure of the average size of platelets, with a typical reference range of 7.5 to 11.5 femtoliters (fL).
synonym: "Large platelets" EXACT layperson []
xref: UMLS:C1096367
is_a: HP:0011876 ! Abnormal platelet volume
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-31T03:58:17Z

[Term]
id: HP:0011878
name: Abnormal platelet membrane protein expression
def: "Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry." [https://orcid.org/0000-0002-7744-1790]
xref: UMLS:C4023151
is_a: HP:0011869 ! Abnormal platelet function
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-31T04:00:21Z

[Term]
id: HP:0011879
name: Decreased platelet glycoprotein Ib-IX-V
def: "Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V." [https://orcid.org/0000-0002-7744-1790, PMID:10605725]
comment: The glycoprotein Ib-IX-V complex forms a specific platelet membrane adhesion receptor, which binds the adhesive glycoprotein, von Willebrand factor (vWF), in the vessel wall or plasma.
xref: UMLS:C4023150
is_a: HP:0011878 ! Abnormal platelet membrane protein expression
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-05-31T04:01:34Z

[Term]
id: HP:0011880
name: Acute disseminated intravascular coagulation
def: "An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023149
is_a: HP:0005521 ! Disseminated intravascular coagulation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-02T04:49:50Z

[Term]
id: HP:0011881
name: Decreased platelet glycoprotein VI
def: "Decreased cell membrane concentration of glycoprotein VI." [https://orcid.org/0000-0002-7744-1790]
comment: The glycoprotein VI is a glycoprotein receptor for collagen.
xref: UMLS:C4023148
is_a: HP:0011878 ! Abnormal platelet membrane protein expression
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-02T09:17:33Z

[Term]
id: HP:0011882
name: Decreased platelet P2Y12 receptor
def: "Decreased cell membrane concentration of P2Y12 receptor." [https://orcid.org/0000-0002-7744-1790, PMID:14755328]
comment: The P2Y12 receptor is activated by ADP and plays a central role in platelet activation.
xref: UMLS:C4023147
is_a: HP:0011878 ! Abnormal platelet membrane protein expression
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-02T09:18:58Z

[Term]
id: HP:0011883
name: Abnormal platelet granules
def: "An anomaly of alpha or dense granules or platelet lysosomes." [https://orcid.org/0000-0002-7744-1790, PMID:18041654]
comment: Platelets contain two classes of granule: the alpha granules and the dense granules. During platelet activation, the contents of the granules are discharged into the lumen of the open canalicular system, from which they are then released to the extracellular space.
xref: UMLS:C4023146
is_a: HP:0011875 ! Abnormal platelet morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-02T09:47:57Z

[Term]
id: HP:0011884
name: Abnormal umbilical stump bleeding
def: "Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth." [https://orcid.org/0000-0003-2945-4463]
xref: UMLS:C4023145
is_a: HP:0001892 ! Abnormal bleeding
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-02T10:25:45Z

[Term]
id: HP:0011885
name: Hemorrhage of the eye
def: "Bleeding from vessels of the various tissues of the eye." [https://orcid.org/0000-0003-2945-4463]
synonym: "Bleeding from the eye" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Haemorrhage of the eye" EXACT uk_spelling []
xref: SNOMEDCT_US:417244000
xref: SNOMEDCT_US:93478000
xref: UMLS:C0015402
is_a: HP:0011029 ! Internal hemorrhage
is_a: HP:0012373 ! Abnormal eye physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-02T10:44:39Z

[Term]
id: HP:0011886
name: Hyphema
def: "Bleeding in the anterior chamber of the eye." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:75229002
xref: UMLS:C0020581
is_a: HP:0011885 ! Hemorrhage of the eye
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-02T10:49:36Z

[Term]
id: HP:0011887
name: Choroid hemorrhage
def: "Hemorrhage from the vessels of the choroid." [https://orcid.org/0000-0002-0736-9199]
synonym: "Choroid haemorrhage" EXACT uk_spelling []
synonym: "Choroidal haemorrhage" EXACT uk_spelling []
synonym: "Choroidal hemorrhage" EXACT []
xref: SNOMEDCT_US:122003
xref: UMLS:C0008522
is_a: HP:0011885 ! Hemorrhage of the eye
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-02T10:50:39Z

[Term]
id: HP:0011888
name: Bleeding requiring red cell transfusion
def: "Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4)." [https://orcid.org/0000-0003-2945-4463]
synonym: "Bleeding requiring red cell transfusion" EXACT layperson []
xref: UMLS:C4023144
is_a: HP:0001892 ! Abnormal bleeding
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-02T11:31:44Z

[Term]
id: HP:0011889
name: Bleeding with minor or no trauma
def: "Significant bleeding or hemorrhage without significant precipitating factor." [https://orcid.org/0000-0002-4381-2442]
synonym: "Bleeding with minor or no trauma" EXACT layperson []
synonym: "Easy bleeding" EXACT layperson []
xref: UMLS:C4023143
is_a: HP:0001892 ! Abnormal bleeding
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-02T11:32:13Z

[Term]
id: HP:0011890
name: Prolonged bleeding following procedure
def: "Prolonged or protracted bleeding following an invasive procedure or intervention." [https://orcid.org/0000-0003-2945-4463]
synonym: "Prolonged bleeding following procedure" EXACT layperson []
xref: UMLS:C4023142
is_a: HP:0001892 ! Abnormal bleeding
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-02T11:33:38Z

[Term]
id: HP:0011891
name: Post-partum hemorrhage
def: "Significant maternal hemorrhage/blood loss following deilvery of a child." [https://orcid.org/0000-0003-2945-4463]
synonym: "Bleeding post-delivery" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Post-partum hemorrhage" EXACT []
xref: SNOMEDCT_US:47821001
xref: UMLS:C0032797
is_a: HP:0011890 ! Prolonged bleeding following procedure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-02T11:35:46Z

[Term]
id: HP:0011892
name: Decreased circulating vitamin K concentration
def: "The concentration of vitamin K in the blood circulation is below the lower limit of normal." []
synonym: "Low levels of vitamin K" EXACT []
xref: SNOMEDCT_US:52675005
xref: UMLS:C0042880
is_a: HP:0100831 ! Abnormality of vitamin K metabolism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-02T05:21:14Z

[Term]
id: HP:0011893
name: Abnormal leukocyte count
def: "Number of leukocytes per volume of blood beyond normal limits." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal white blood cell count" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:165509000
xref: UMLS:C0580531
is_a: HP:0001881 ! Abnormal leukocyte morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-02T05:32:39Z

[Term]
id: HP:0011894
name: Impaired thromboxane A2 agonist-induced platelet aggregation
def: "Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists." [https://orcid.org/0000-0002-7744-1790]
xref: UMLS:C4023141
is_a: HP:0003540 ! Impaired platelet aggregation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-03T08:51:33Z

[Term]
id: HP:0011895
name: Anemia due to reduced life span of red cells
def: "A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days." [https://orcid.org/0000-0003-2945-4463]
synonym: "Anaemia due to reduced life span of red cells" EXACT []
xref: UMLS:C4021112
is_a: HP:0001903 ! Anemia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-03T09:26:17Z

[Term]
id: HP:0011896
name: Subconjunctival hemorrhage
def: "Bleeding beneath the mucous membrane that lines the inner surface of the eyelid." [https://orcid.org/0000-0003-2945-4463]
synonym: "Subconjunctival haemorrhage" EXACT uk_spelling []
xref: SNOMEDCT_US:78768009
xref: UMLS:C0038534
is_a: HP:0011885 ! Hemorrhage of the eye
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-03T03:11:41Z

[Term]
id: HP:0011897
name: Increased total neutrophil count
def: "Abnormal increase of absolute number of neutrophils in the blood, per microliter, compared to a reference range for a given sex and age-group." [https://orcid.org/0000-0003-2945-4463]
synonym: "Increased blood neutrophil counts" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Neutrophilia" EXACT []
xref: UMLS:C4023140
is_a: HP:0011991 ! Abnormal total neutrophil count
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-03T03:16:43Z

[Term]
id: HP:0011898
name: Abnormality of circulating fibrinogen
def: "An abnormality of the level of activity of circulating fibrinogen." [https://orcid.org/0000-0003-2945-4463]
comment: Fibrinogen is an essential hemostatic factor that is converted to fibrin (a final product of the hemostatic pathway) by activated thrombin.
xref: UMLS:C4023139
is_a: HP:0010990 ! Abnormality of the common coagulation pathway
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-03T03:35:43Z

[Term]
id: HP:0011899
name: Hyperfibrinogenemia
def: "Increased concentration of fibrinogen in the blood." [https://orcid.org/0000-0003-2945-4463]
xref: SNOMEDCT_US:439000005
xref: UMLS:C0919890
is_a: HP:0011898 ! Abnormality of circulating fibrinogen
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-03T03:38:36Z

[Term]
id: HP:0011900
name: Hypofibrinogenemia
def: "Decreased concentration of fibrinogen in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Low fibrinogen activity" EXACT []
synonym: "Low fibrinogen level" EXACT []
xref: SNOMEDCT_US:234457009
xref: UMLS:C0553681
is_a: HP:0011898 ! Abnormality of circulating fibrinogen
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-03T03:39:47Z

[Term]
id: HP:0011901
name: Dysfibrinogenemia
def: "Qualitatively abnormal fibrinogen." [https://orcid.org/0000-0003-2945-4463]
synonym: "Dysfibrinogenaemia" EXACT []
xref: SNOMEDCT_US:111589005
xref: UMLS:C1260903
is_a: HP:0011898 ! Abnormality of circulating fibrinogen
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-03T03:40:21Z

[Term]
id: HP:0011902
name: Abnormal hemoglobin
def: "Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal haemoglobin" EXACT uk_spelling []
synonym: "Abnormal Hb" EXACT abbreviation []
xref: UMLS:C0349705
is_a: HP:0001877 ! Abnormal erythrocyte morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-03T03:53:23Z

[Term]
id: HP:0011903
name: HbH hemoglobin
def: "Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia." [https://orcid.org/0000-0002-0736-9199, PMID:21345100]
synonym: "Haemoglobin H" EXACT uk_spelling []
synonym: "HbH haemoglobin" EXACT uk_spelling []
synonym: "Hemoglobin H" EXACT []
xref: SNOMEDCT_US:48553001
xref: UMLS:C3161174
is_a: HP:0011902 ! Abnormal hemoglobin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-03T04:59:15Z

[Term]
id: HP:0011904
name: Persistence of hemoglobin F
def: "Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased haemoglobin F" EXACT uk_spelling []
synonym: "Increased hemoglobin F" EXACT []
synonym: "Persistence of haemoglobin F" EXACT uk_spelling []
synonym: "Persistence of HbF" EXACT abbreviation []
xref: UMLS:C0239941
is_a: HP:0011902 ! Abnormal hemoglobin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-03T05:03:00Z

[Term]
id: HP:0011905
name: Reduced hemoglobin A
def: "Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Reduced haemoglobin A" EXACT uk_spelling []
synonym: "Reduced HbA" EXACT abbreviation []
xref: UMLS:C4023138
is_a: HP:0011902 ! Abnormal hemoglobin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-03T05:07:19Z

[Term]
id: HP:0011906
name: Reduced beta/alpha synthesis ratio
def: "A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia." [https://orcid.org/0000-0002-0736-9199, PMID:1060068]
xref: UMLS:C4023137
is_a: HP:0005560 ! Imbalanced hemoglobin synthesis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-03T05:41:20Z

[Term]
id: HP:0011907
name: Reduced alpha/beta synthesis ratio
def: "A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023136
is_a: HP:0005560 ! Imbalanced hemoglobin synthesis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-03T05:43:45Z

[Term]
id: HP:0011908
name: Unilateral radial aplasia
def: "Missing radius bone on one side only associated with congenital failure of development." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023135
is_a: HP:0003974 ! Absent radius
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-03T06:46:52Z

[Term]
id: HP:0011909
name: Flattened metacarpal heads
def: "Abnormally flat shape of the heads of the metacarpal bones." [https://orcid.org/0000-0002-0736-9199]
comment: The metacarpal heads articulate with the proximal phalanges of the fingers.
synonym: "Flattened head of long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023134
is_a: HP:0005916 ! Abnormal metacarpal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-03T10:23:40Z

[Term]
id: HP:0011910
name: Shortening of all phalanges of fingers
def: "Abnormal reduction in length affecting all phalanges." [https://orcid.org/0000-0002-0736-9199]
synonym: "Shortening of all finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023133
is_a: HP:0009803 ! Short phalanx of finger
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-03T10:50:44Z

[Term]
id: HP:0011911
name: Abnormal metacarpophalangeal joint morphology
def: "An anomaly of a metacarpophalangeal joint." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of metacarpophalangeal joint" EXACT []
synonym: "Abnormality of the knuckle" EXACT layperson []
xref: UMLS:C4023132
is_a: HP:0005916 ! Abnormal metacarpal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-03T11:03:36Z

[Term]
id: HP:0011912
name: Abnormality of the glenoid fossa
def: "An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023131
is_a: HP:0000782 ! Abnormal scapula morphology
is_a: HP:0003043 ! Abnormal shoulder morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-05T08:51:23Z

[Term]
id: HP:0011913
name: Lumbar hypertrichosis
def: "Excessive, increased hair growth located in the lumbar region." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023130
is_a: HP:0000998 ! Hypertrichosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-05T10:13:10Z

[Term]
id: HP:0011914
name: Thoracic hypertrichosis
def: "Excessive, increased hair growth located in the thoracic region." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023129
is_a: HP:0000998 ! Hypertrichosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-05T10:13:14Z

[Term]
id: HP:0011915
name: Cardiovascular calcification
def: "Abnormal calcification in the cardiovascular system." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023128
is_a: HP:0010766 ! Ectopic calcification
is_a: HP:0030680 ! Abnormal cardiovascular system morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-05T10:35:58Z

[Term]
id: HP:0011916
name: Toe extensor amyotrophy
def: "Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023127
is_a: HP:0001436 ! Abnormality of the foot musculature
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-08T06:59:44Z

[Term]
id: HP:0011917
name: Short 5th toe
def: "Underdevelopment (hypoplasia) of the fifth toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Short fifth toe" EXACT []
synonym: "Short little toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Short pinkie toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Short pinky toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021111
is_a: HP:0001831 ! Short toe
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-08T08:25:00Z

[Term]
id: HP:0011918
name: Clinodactyly of the 4th toe
def: "Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe)." [https://orcid.org/0000-0002-0736-9199]
synonym: "4th toe clinodactyly" RELATED []
synonym: "Curvature of 4th toe" BROAD layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4020740
is_a: HP:0001863 ! Toe clinodactyly
is_a: HP:0010338 ! Deviation of the 4th toe
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-08T08:44:27Z

[Term]
id: HP:0011919
name: Pleural empyema
def: "Accumulation of pus in the pleural cavity." [https://orcid.org/0000-0002-0736-9199]
synonym: "Pyothorax" EXACT []
xref: SNOMEDCT_US:405950009
xref: SNOMEDCT_US:405951008
xref: SNOMEDCT_US:58554001
xref: UMLS:C0014013
is_a: HP:0002202 ! Pleural effusion
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-08T07:13:41Z

[Term]
id: HP:0011920
name: Transudative pleural effusion
def: "A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH." [HPO_CONTRIBUTOR:DDD_tkuijpers, https://orcid.org/0000-0002-0736-9199, PMID:16623208]
comment: Transudates result from imbalances in hydrostatic and oncotic forces and are caused by a limited number of recognized clinical conditions such as heart failure and cirrhosis. Less common causes include nephrotic syndrome, atelectasis, peritoneal dialysis, constrictive pericarditis, superior vena caval obstruction, and urinothorax.
xref: SNOMEDCT_US:79231000
xref: UMLS:C0020312
is_a: HP:0002202 ! Pleural effusion
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-08T07:31:00Z

[Term]
id: HP:0011921
name: Exudative pleural effusion
def: "A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH." [HPO_CONTRIBUTOR:DDD_tkuijpers, https://orcid.org/0000-0002-0736-9199, PMID:16623208]
comment: Transudates result from pneumonia, malignancy, thromboembolism, and other causes.
xref: SNOMEDCT_US:13841000119107
xref: UMLS:C3887491
is_a: HP:0002202 ! Pleural effusion
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-08T07:35:47Z

[Term]
id: HP:0011922
name: Abnormal activity of mitochondrial respiratory chain
def: "An increased or decreased activity of the mitochondrial respiratory chain." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023126
is_a: HP:0003287 ! Abnormality of mitochondrial metabolism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-08T08:57:44Z

[Term]
id: HP:0011923
name: Decreased activity of mitochondrial complex I
def: "A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria." [https://orcid.org/0000-0002-0736-9199]
synonym: "Respiratory complex I deficiency" RELATED []
xref: UMLS:C2677650
xref: UMLS:C4020739
is_a: HP:0008972 ! Decreased activity of mitochondrial respiratory chain
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-08T09:02:29Z

[Term]
id: HP:0011924
name: Decreased activity of mitochondrial complex III
def: "A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria." [https://orcid.org/0000-0002-0736-9199]
synonym: "Respiratory complex III deficiency" RELATED []
xref: UMLS:C3149083
xref: UMLS:C4020738
is_a: HP:0008972 ! Decreased activity of mitochondrial respiratory chain
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-08T09:04:26Z

[Term]
id: HP:0011925
name: Decreased activity of mitochondrial ATP synthase complex
def: "A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased activity of mitochondrial complex V" EXACT []
synonym: "Mitochondrial complex V deficiency" EXACT []
synonym: "Respiratory complex deficiency, ATPase deficiency" RELATED []
xref: UMLS:C4020737
xref: UMLS:C4023125
is_a: HP:0008972 ! Decreased activity of mitochondrial respiratory chain
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-08T09:08:42Z

[Term]
id: HP:0011926
name: Proximal placement of hallux
def: "Proximal mislocalization of the big toe from its normal position." [https://orcid.org/0000-0002-0736-9199]
comment: Thumb placement index greater than 0.55; or, the base of the thumb appears closer to the wrist than is typical. The technique for the thumb placement index is described in detail [Malina et al., 1973; Hall et al., 2007]. Briefly, the thumb placement index is the distance from the proximal crease of the index finger to the angle of the first interdigital space divided by the distance from the proximal crease of the index finger to the wrist flexion crease at the base of the thumb. This term should not be used with Preaxial polydactyly.
synonym: "Proximal placement of big toe" EXACT []
synonym: "Proximally placed halluces" EXACT plural_form []
xref: UMLS:C4021110
is_a: HP:0010051 ! Deviation of the hallux
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-09T03:29:59Z

[Term]
id: HP:0011927
name: Short digit
def: "One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened." [https://orcid.org/0000-0002-0736-9199]
comment: Note that the term brachydactyly is reserved for specific patterns of short digits, see HP:0001156.
synonym: "Short digit" EXACT layperson []
synonym: "Very short digits" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1860176
xref: UMLS:C4023124
is_a: HP:0011297 ! Abnormal digit morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-10T09:18:42Z

[Term]
id: HP:0011928
name: Short proximal phalanx of toe
def: "Developmental hypoplasia (shortening) of proximal phalanx of toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Short innermost toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023123
is_a: HP:0001831 ! Short toe
is_a: HP:0010184 ! Abnormality of toe proximal phalanx
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-10T10:06:30Z

[Term]
id: HP:0011929
name: Hypersegmentation of proximal phalanx of third finger
def: "Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger." [https://orcid.org/0000-0002-0736-9199]
comment: This anomaly is characteristic for brachydactyly type C.
xref: UMLS:C4023122
is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-10T10:49:28Z

[Term]
id: HP:0011930
name: Hyperextensible skin of chest
synonym: "Hyperelastic chest skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Stretchable chest skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021836
is_a: HP:0007458 ! Focal hyperextensible skin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-10T11:37:14Z

[Term]
id: HP:0011931
name: Abnormal cerebellar peduncle morphology
def: "An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the cerebellar peduncle" EXACT []
xref: UMLS:C4023121
is_a: HP:0001317 ! Abnormal cerebellum morphology
is_a: HP:0012501 ! Abnormal brainstem white matter morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-10T01:02:57Z

[Term]
id: HP:0011932
name: Abnormal superior cerebellar peduncle morphology
def: "An anomaly of the superior cerebellar peduncle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the superior cerebellar peduncle" EXACT []
xref: UMLS:C4023120
is_a: HP:0007361 ! Abnormal pons morphology
is_a: HP:0011931 ! Abnormal cerebellar peduncle morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-10T01:26:47Z

[Term]
id: HP:0011933
name: Elongated superior cerebellar peduncle
def: "Increased length of the superior cerebellar peduncle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Elongated superior cerebellar peduncles" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Long cerebellar peduncle" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Long cerebellar peduncles" EXACT []
xref: UMLS:C3810214
xref: UMLS:C4021109
is_a: HP:0011932 ! Abnormal superior cerebellar peduncle morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-10T01:31:13Z

[Term]
id: HP:0011934
name: Dilatation of mesenteric artery
def: "Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery ." [https://orcid.org/0000-0002-0736-9199]
comment: Aneurysm is considered a severe form of dilatation.
synonym: "Mesenteric artery aneurysm" NARROW []
xref: UMLS:C4023119
is_a: HP:0002636 ! Dilatation of an abdominal artery
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-10T01:48:30Z

[Term]
id: HP:0011935
name: Decreased urinary urate
def: "Decreased concentration of urate in the urine." [https://orcid.org/0000-0002-0736-9199]
comment: Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid. Uric acid is the final oxidation product of purine catabolism.
xref: UMLS:C4023118
is_a: HP:0012610 ! Abnormality of urinary uric acid level
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-10T02:19:49Z

[Term]
id: HP:0011936
name: Decreased plasma total carnitine
def: "A decreased concentration of total carnitine in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased plasma total carnitine" EXACT layperson []
xref: UMLS:C4023117
is_a: HP:0003234 ! Decreased circulating carnitine concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-10T04:20:17Z

[Term]
id: HP:0011937
name: Hypoplastic fifth toenail
def: "Underdeveloped nails of the fifth toes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small fifth toenail" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Underdeveloped fifth toenail" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023116
is_a: HP:0001800 ! Hypoplastic toenails
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-10T04:27:42Z

[Term]
id: HP:0011939
name: 3-4 finger cutaneous syndactyly
def: "A soft tissue continuity in the A/P axis between fingers 3 and 4." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023115
is_a: HP:0010554 ! Cutaneous finger syndactyly
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-10T05:13:51Z

[Term]
id: HP:0011940
name: Anterior wedging of T12
def: "An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Anterior wedging of the 12th thoracic vertebra" EXACT []
synonym: "Wedge-shaped 12th thoracic vertebra" EXACT []
xref: UMLS:C4021108
is_a: HP:0008422 ! Vertebral wedging
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-10T06:07:54Z

[Term]
id: HP:0011941
name: Anterior wedging of L2
def: "An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front)." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023114
is_a: HP:0008422 ! Vertebral wedging
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-10T06:10:08Z

[Term]
id: HP:0011942
name: Increased urinary sulfite level
def: "The concentration of SO3(2-), i.e., sulfite, in the urine, normalized for urine concentration, is above the upper limit of normal." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1848957
is_a: HP:0033354 ! Abnormal urine metabolite level
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-11T07:36:01Z

[Term]
id: HP:0011943
name: Increased urinary thiosulfate
def: "Increased concentration of thiosulfate(2-) in the urine." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C3148695
is_a: HP:0033354 ! Abnormal urine metabolite level
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-11T07:37:29Z

[Term]
id: HP:0011944
name: Small vessel vasculitis
def: "A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries." [https://orcid.org/0000-0002-0736-9199, PMID:9366584]
xref: UMLS:C4023113
is_a: HP:0034784 ! Vasculitis by anatomical site
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-11T07:58:21Z

[Term]
id: HP:0011945
name: Bronchiolitis obliterans organizing pneumonia
def: "Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss." [HPO_CONTRIBUTOR:DDD_tkuijpers, https://orcid.org/0000-0002-0736-9199, PMID:20858818]
synonym: "BOOP" EXACT abbreviation []
synonym: "Bronchiolitis obliterans organising pneumonia" EXACT uk_spelling []
synonym: "Cryptogenic organising pneumonia" EXACT uk_spelling []
synonym: "Cryptogenic organizing pneumonia" EXACT []
xref: SNOMEDCT_US:129458007
xref: UMLS:C0242770
is_a: HP:0006530 ! Abnormal pulmonary interstitial morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-18T07:55:41Z

[Term]
id: HP:0011946
name: Bronchiolitis obliterans
def: "Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways." [https://orcid.org/0000-0002-0736-9199]
comment: Note that Bronchiolitis obliterans is not to be confused with the similarly named feature Bronchiolitis obliterans organizing pneumonia.
synonym: "Constrictive bronchiolitis" EXACT []
synonym: "Obliterative bronchiolitis" EXACT []
xref: SNOMEDCT_US:40100001
xref: UMLS:C0006272
xref: UMLS:C2350875
is_a: HP:0006530 ! Abnormal pulmonary interstitial morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-21T08:20:58Z

[Term]
id: HP:0011947
name: Respiratory tract infection
def: "An infection of the upper or lower respiratory tract." [https://orcid.org/0000-0002-0736-9199]
synonym: "Respiratory infection" EXACT layperson []
synonym: "Respiratory infections" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Respiratory tract infection" EXACT layperson []
xref: SNOMEDCT_US:275498002
xref: UMLS:C0035243
is_a: HP:0002088 ! Abnormal lung morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-21T08:26:36Z

[Term]
id: HP:0011948
name: Recurrent acute respiratory tract infection
def: "A history of repeated acute infections of the upper or lower respiratory tract." [HPO_CONTRIBUTOR:DDD_tkuijpers]
synonym: "Acute respiratory tract infection" EXACT layperson []
xref: UMLS:C1442786
is_a: HP:0002205 ! Recurrent respiratory infections
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-21T08:30:15Z

[Term]
id: HP:0011949
name: Acute infectious pneumonia
def: "Acute inflammation of the lung due to an infection." [HPO_CONTRIBUTOR:DDD_tkuijpers]
xref: UMLS:C4023112
is_a: HP:0002090 ! Pneumonia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-21T08:33:30Z

[Term]
id: HP:0011950
name: Bronchiolitis
def: "Inflammation of the bronchioles." [HPO_CONTRIBUTOR:DDD_tkuijpers]
xref: SNOMEDCT_US:4120002
xref: UMLS:C0006271
is_a: HP:0011948 ! Recurrent acute respiratory tract infection
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-21T08:36:11Z

[Term]
id: HP:0011951
name: Aspiration pneumonia
def: "Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:422588002
xref: UMLS:C0032290
is_a: HP:0002090 ! Pneumonia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-21T08:40:03Z

[Term]
id: HP:0011952
name: Acute aspiration pneumonia
def: "An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:35031000119100
xref: UMLS:C4023111
is_a: HP:0011951 ! Aspiration pneumonia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-21T08:42:03Z

[Term]
id: HP:0011953
name: Pulmonary lymphoma
def: "Lung parenchymal involvement with lymphoma." [HPO_CONTRIBUTOR:DDD_tkuijpers]
xref: UMLS:C0519063
is_a: HP:0002665 ! Lymphoma
is_a: HP:0100526 ! Neoplasm of the lung
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-21T08:45:48Z

[Term]
id: HP:0011954
name: Nodular regenerative hyperplasia of liver
def: "Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis." [PMID:21472097]
synonym: "Nodular transformation of liver" EXACT []
synonym: "Noncirrhotic nodulation" EXACT []
synonym: "Partial nodular transformation of liver" EXACT []
xref: SNOMEDCT_US:65860006
xref: SNOMEDCT_US:715140008
xref: UMLS:C1318485
is_a: HP:0410042 ! Abnormal liver morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-21T09:06:10Z

[Term]
id: HP:0011955
name: Hepatic granulomatosis
def: "The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023110
is_a: HP:0002955 ! Granulomatosis
is_a: HP:0410042 ! Abnormal liver morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-21T09:11:32Z

[Term]
id: HP:0011956
name: Intestinal lymphoid nodular hyperplasia
def: "A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centers are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centers; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine." [https://orcid.org/0000-0002-0736-9199, PMID:21481240]
xref: UMLS:C4023109
is_a: HP:0002242 ! Abnormal intestine morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-21T09:27:07Z

[Term]
id: HP:0011957
name: Abnormal pectoral muscle morphology
def: "An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal pec muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023108
is_a: HP:0009131 ! Abnormality of the musculature of the thorax
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-22T08:06:04Z

[Term]
id: HP:0011958
name: Retinal perforation
def: "A small hole through the whole thickness of the retina." [https://orcid.org/0000-0002-0736-9199]
comment: Retinal perforations can be cause by inflammation, trauma, degeneration, or other factors, and comprise retinal breaks, tears, dialyses, and holes.
synonym: "Retinal tear" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Torn retina" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:232003005
xref: SNOMEDCT_US:302888003
xref: SNOMEDCT_US:40024006
xref: SNOMEDCT_US:95690009
xref: UMLS:C0035321
is_a: HP:0000479 ! Abnormal retinal morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-07-07T11:24:39Z

[Term]
id: HP:0011959
name: Unilateral hypoplasia of pectoralis major muscle
def: "Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small pec muscle on one side" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Underdeveloped pec muscle on one side" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023107
is_a: HP:0011957 ! Abnormal pectoral muscle morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-06-22T08:13:12Z

[Term]
id: HP:0011960
name: Substantia nigra gliosis
def: "Focal proliferation of glial cells in the substantia nigra." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1846865
is_a: HP:0002171 ! Gliosis
is_a: HP:0045007 ! Abnormal substantia nigra morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-16T11:50:42Z

[Term]
id: HP:0011961
name: Non-obstructive azoospermia
def: "Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy." [https://orcid.org/0000-0002-0736-9199, PMID:20514278]
synonym: "Testicular azoospermia" EXACT []
xref: UMLS:C4021107
is_a: HP:0000027 ! Azoospermia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-16T12:22:54Z

[Term]
id: HP:0011962
name: Obstructive azoospermia
def: "Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy." [https://orcid.org/0000-0002-0736-9199, PMID:20514278]
xref: UMLS:C4023106
is_a: HP:0000027 ! Azoospermia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-16T12:25:35Z

[Term]
id: HP:0011963
name: Pretesticular azoospermia
def: "Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels." [https://orcid.org/0000-0002-0736-9199, PMID:20514278]
xref: UMLS:C4023105
is_a: HP:0000027 ! Azoospermia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-16T12:28:55Z

[Term]
id: HP:0011964
name: Intermittent painful muscle spasms
def: "History of repeated intermittent involuntary muscle contractions that were painful." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023104
is_a: HP:0003394 ! Muscle spasm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-16T01:17:16Z

[Term]
id: HP:0011965
name: Abnormal circulating citrulline concentration
def: "Any deviation from the normal concentration of citrulline in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
comment: Citrulline is an alpha-amino acid that is a key intermediate in the urea cycle.
xref: UMLS:C4023103
is_a: HP:0033109 ! Abnormal circulating non-proteinogenic amino acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-18T08:21:59Z

[Term]
id: HP:0011966
name: Elevated plasma citrulline
def: "An increased concentration of citrulline in the blood." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023102
is_a: HP:0011965 ! Abnormal circulating citrulline concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-18T08:23:22Z

[Term]
id: HP:0011967
name: Decreased circulating copper concentration
def: "A reduced concentration of copper in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Copper deficiency" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Hypocupremia" EXACT []
synonym: "Reduced serum copper" EXACT []
xref: SNOMEDCT_US:19577007
xref: UMLS:C0268070
is_a: HP:0010836 ! Abnormal circulating copper concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-18T08:29:13Z

[Term]
id: HP:0011968
name: Feeding difficulties
def: "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [https://orcid.org/0000-0002-6647-5493, PMID:34006516]
comment: Difficulties with eating and drinking, resulting in decreased oral nutrition
subset: hposlim_core
synonym: "Decreased oral intake" EXACT []
synonym: "Feeding difficulties" EXACT layperson []
synonym: "Feeding problems" EXACT layperson []
synonym: "Poor feeding" EXACT layperson []
xref: SNOMEDCT_US:78164000
xref: UMLS:C0232466
is_a: HP:0011458 ! Abdominal symptom
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-18T10:25:05Z

[Term]
id: HP:0011969
name: Elevated circulating luteinizing hormone level
alt_id: HP:0030343
def: "An elevated concentration of luteinizing hormone in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Elevated LH level" EXACT abbreviation []
synonym: "Elevated luteinizing hormone" EXACT []
synonym: "Increased circulating luteinizing hormone level" EXACT []
xref: UMLS:C4023101
is_a: HP:0000837 ! Increased circulating gonadotropin level
is_a: HP:0030345 ! Abnormal circulating luteinizing hormone concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-18T08:36:09Z

[Term]
id: HP:0011970
name: Cerebral amyloid angiopathy
def: "Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system." [https://orcid.org/0000-0002-0736-9199, PMID:21519520]
comment: Vascular beta-amyloid deposition in the walls of small to medium-sized, blood vessels (mostly arterial) of the central nervous system. Cerebral amyloid angiopathy mostly occurs in the sporadic form in the elderly, while rare familial forms occur in younger patients and are generally lead to more severe clinical manifestations. Extracellular deposition of the amyloid protein in the brain is associated with neurologic and physiological disease progression.
xref: SNOMEDCT_US:230724001
xref: UMLS:C0085220
is_a: HP:0011034 ! Amyloidosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-18T08:39:48Z

[Term]
id: HP:0011971
name: Dermatographic urticaria
def: "An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Dermatographism" EXACT []
synonym: "Dermographism" EXACT []
synonym: "Skin writing" EXACT layperson []
xref: SNOMEDCT_US:402410006
xref: SNOMEDCT_US:402601007
xref: SNOMEDCT_US:7632005
xref: UMLS:C0343065
is_a: HP:0410134 ! Physical urticaria
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-18T08:42:25Z

[Term]
id: HP:0011972
name: Hypoglycorrhachia
def: "Abnormally low glucose concentration in the cerebrospinal fluid." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased CSF glucose" EXACT []
synonym: "Low glucose levels in cerebral spinal fluid" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C0598121
is_a: HP:0031884 ! Abnormal CSF glucose concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-18T08:45:55Z

[Term]
id: HP:0011973
name: Paroxysmal lethargy
def: "Repeated episodes of sudden-onset and transient lethargy." []
synonym: "Intermittent lack of energy" EXACT []
xref: UMLS:C1847507
is_a: HP:0001254 ! Lethargy
property_value: terms:contributor https://orcid.org/0000-0001-6262-8264
property_value: terms:contributor https://orcid.org/0000-0001-9446-5121
property_value: terms:contributor https://orcid.org/0000-0002-1592-0825
property_value: terms:contributor https://orcid.org/0000-0002-4672-4923
property_value: terms:contributor https://orcid.org/0000-0002-5554-6946
property_value: terms:contributor https://orcid.org/0000-0002-7367-663X
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-18T08:48:06Z

[Term]
id: HP:0011974
name: Myelofibrosis
def: "Replacement of bone marrow by fibrous tissue." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:52967002
xref: UMLS:C0026987
is_a: HP:0012145 ! Abnormality of multiple cell lineages in the bone marrow
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-18T08:51:57Z

[Term]
id: HP:0011975
name: Aminoglycoside-induced hearing loss
def: "Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics." [https://orcid.org/0000-0002-0736-9199, PMID:2669624]
comment: The ototoxicity of aminoglycoside antibiotics is related to the destruction of sensory hair cells in the cochlea and vestibular labyrinth.
xref: UMLS:C4023100
is_a: HP:0000365 ! Hearing impairment
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-18T08:55:03Z

[Term]
id: HP:0011976
name: Elevated urinary catecholamine level
def: "The concentration of a catecholamine in the urine, normalized for urine concentration, is above the upper limit of normal." [https://orcid.org/0000-0002-0736-9199]
synonym: "Elevated urinary catecholamines" EXACT layperson []
xref: UMLS:C0241577
is_a: HP:0011281 ! Abnormality of urine catecholamine level
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-18T09:07:22Z

[Term]
id: HP:0011977
name: Elevated urinary homovanillic acid
def: "An increased concentration of homovanillic acid in the urine." [https://orcid.org/0000-0002-0736-9199, PMID:27830764]
comment: Homovanillic acid is the main metabolite produced from dopamine degradation by the action of monoamine oxidase. Increased levels of catecholamines or catecholamine metabolites, including dopamine, homovanillic acid (HVA) and/or vanillylmandelic acid (VMA), can be detected in the urine of 90% of all patients with neuroblastoma.
synonym: "Increased urinary homovanillic acid" RELATED []
xref: UMLS:C4020736
is_a: HP:0040156 ! Elevated urinary carboxylic acid
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-18T09:10:06Z

[Term]
id: HP:0011978
name: Elevated urinary vanillylmandelic acid
def: "An increased concentration of vanillylmandelic acid in the urine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased urinary vanillylmandelic acid" RELATED []
xref: UMLS:C4020735
is_a: HP:0040156 ! Elevated urinary carboxylic acid
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-18T09:11:52Z

[Term]
id: HP:0011979
name: Elevated urinary dopamine level
def: "The concentration of dopamine in the urine, normalized for urine concentration, is above the upper limit of normal." [https://orcid.org/0000-0002-0736-9199]
synonym: "Elevated urinary dopamine" EXACT layperson []
xref: UMLS:C4023099
is_a: HP:0011976 ! Elevated urinary catecholamine level
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-18T09:13:16Z

[Term]
id: HP:0011980
name: Cholesterol gallstones
def: "Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color." [https://orcid.org/0000-0002-0736-9199, PMID:12950109, PMID:16844493]
xref: UMLS:C0856727
is_a: HP:0001081 ! Cholelithiasis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-18T09:16:15Z

[Term]
id: HP:0011981
name: Pigment gallstones
def: "Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration." [https://orcid.org/0000-0002-0736-9199, PMID:12950109]
xref: UMLS:C3278865
is_a: HP:0001081 ! Cholelithiasis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-18T09:18:44Z

[Term]
id: HP:0011982
name: Black pigment gallstones
def: "A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates." [https://orcid.org/0000-0002-0736-9199, PMID:12950109]
xref: UMLS:C4023098
is_a: HP:0011981 ! Pigment gallstones
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-18T09:25:05Z

[Term]
id: HP:0011983
name: Brown pigment gallstones
def: "A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones." [https://orcid.org/0000-0002-0736-9199, PMID:12950109]
xref: UMLS:C4023097
is_a: HP:0011981 ! Pigment gallstones
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-18T09:26:55Z

[Term]
id: HP:0011984
name: Atretic gallbladder
def: "Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Gallbladder atresia" EXACT []
xref: UMLS:C3277945
is_a: HP:0011466 ! Aplasia/Hypoplasia of the gallbladder
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-19T10:26:35Z

[Term]
id: HP:0011985
name: Acholic stools
alt_id: HP:0200112
def: "Clay colored stools lacking bile pigment." [https://orcid.org/0000-0002-0736-9199]
synonym: "Acholia" EXACT []
synonym: "Clay colored stools" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Clay coloured stools" EXACT uk_spelling []
synonym: "Discolored, acholic stools" EXACT []
xref: SNOMEDCT_US:70396004
xref: UMLS:C2675627
is_a: HP:0001396 ! Cholestasis
is_a: HP:0031685 ! Abnormal stool composition
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-19T10:31:22Z

[Term]
id: HP:0011986
name: Ectopic ossification
def: "Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist." [https://orcid.org/0000-0002-0736-9199]
synonym: "Ectopic bone formation" EXACT []
synonym: "Heterotopic ossification" EXACT []
xref: MEDDRA:10065453 "Ectopic ossification"
xref: SNOMEDCT_US:128491006
xref: UMLS:C0029396
is_a: HP:0011849 ! Abnormal bone ossification
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-19T10:38:25Z

[Term]
id: HP:0011987
name: Ectopic ossification in muscle tissue
def: "Formation of abnormal bony tissue within muscle tissue." [https://orcid.org/0000-0002-0736-9199]
synonym: "Calcification of muscle tissue" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023096
is_a: HP:0011986 ! Ectopic ossification
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-19T10:46:03Z

[Term]
id: HP:0011988
name: Ectopic ossification in tendon tissue
def: "Formation of abnormal bony tissue within tendon tissue." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023095
is_a: HP:0011986 ! Ectopic ossification
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-19T10:47:01Z

[Term]
id: HP:0011989
name: Ectopic ossification in ligament tissue
def: "Formation of abnormal bony tissue within ligament tissue." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023094
is_a: HP:0011986 ! Ectopic ossification
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-19T10:48:31Z

[Term]
id: HP:0011990
name: Abnormal neutrophil physiology
def: "Any functional abnormality of neutrophils." [https://orcid.org/0000-0002-0736-9199]
comment: Abnormal response of granulocytes to stimuli.
synonym: "Abnormality of neutrophil physiology" EXACT []
xref: UMLS:C4023093
is_a: HP:0001874 ! Abnormality of neutrophils
is_a: HP:0033796 ! Abnormal leukocyte physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-19T10:56:37Z

[Term]
id: HP:0011991
name: Abnormal total neutrophil count
def: "A deviation from the normal range of neutrophil cell counts in the circulation." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal neutrophil cell number" EXACT []
synonym: "Abnormal neutrophil count" EXACT []
xref: UMLS:C4023092
is_a: HP:0001874 ! Abnormality of neutrophils
is_a: HP:0032309 ! Abnormal granulocyte count
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-19T10:59:14Z

[Term]
id: HP:0011992
name: Abnormal neutrophil morphology
def: "An abnormal form or size of neutrophils." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of neutrophil morphology" EXACT []
xref: UMLS:C4023091
is_a: HP:0001874 ! Abnormality of neutrophils
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-19T11:00:27Z

[Term]
id: HP:0011993
name: Impaired neutrophil bactericidal activity
def: "A reduction in the ability of neutrophils to kill bacteria." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023090
is_a: HP:0011990 ! Abnormal neutrophil physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-19T11:01:32Z

[Term]
id: HP:0011994
name: Abnormal atrial septum morphology
def: "An abnormality of the interatrial septum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal interatrial septum morphology" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of the atrial septum" EXACT []
xref: Fyler:2002
xref: SNOMEDCT_US:253363004
xref: UMLS:C0344722
is_a: HP:0001671 ! Abnormal cardiac septum morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-19T11:34:27Z

[Term]
id: HP:0011995
name: Atrial septal dilatation
def: "A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography." [https://orcid.org/0000-0002-0736-9199, PMID:7758185]
comment: Atrial septal aneurysm formation may be secondary to raised interatrial pressure gradients, producing a bulging septal shift toward the low-pressure side. However, it has been also found in patients with normal atrial pressures, suggesting a primary (congenital) malformation.
synonym: "Atrial septal aneurysm" NARROW []
xref: SNOMEDCT_US:95440004
xref: UMLS:C0521533
is_a: HP:0011994 ! Abnormal atrial septum morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-19T11:35:07Z

[Term]
id: HP:0011996
name: Elevated coagulation factor V activity
def: "Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex." [https://orcid.org/0000-0002-0736-9199]
synonym: "Elevated factor V activity" EXACT []
synonym: "Plasma factor V elevated" EXACT []
xref: UMLS:C4021106
is_a: HP:0031899 ! Abnormal coagulation factor V activity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-19T11:40:31Z

[Term]
id: HP:0011997
name: Postprandial hyperlactemia
def: "Abnormally increased level of blood lactate following a meal." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023089
is_a: HP:0002151 ! Increased circulating lactate concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-19T12:06:39Z

[Term]
id: HP:0011998
name: Postprandial hyperglycemia
def: "An increased concentration of glucose in the blood following a meal." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1855520
is_a: HP:0003074 ! Hyperglycemia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-19T12:07:59Z

[Term]
id: HP:0011999
name: Paranoia
def: "The feeling and belief that one is being targeted or is a focus of negative or untoward actions, overt or covert, from others. The affected individual expresses a concern that people are in general against the individual and are engaging in subtle behaviors to make things difficult for them. The origins of such thinking may arise from real events and become amplified over time. Paranoia may also arise in the absence of any action or interaction between the person and their environment." [PMID:34618805]
comment: Paranoia is defined as a non-delusional state characterized by a vague sense that 'everyone and anyone' is unfavorable towards one as in 'the whole world hates me'. A persecutory delusion is, in contrast, typically fixed and focused - as in 'my neighbor is pumping poison into my house'.
synonym: "Paranoia" EXACT layperson []
xref: SNOMEDCT_US:191667009
xref: UMLS:C1456784
is_a: HP:5200242 ! Cognitive distortion
property_value: terms:contributor https://orcid.org/0000-0001-7062-8192
property_value: terms:contributor https://orcid.org/0000-0001-7941-2961
property_value: terms:contributor https://orcid.org/0000-0001-9221-9226
property_value: terms:contributor https://orcid.org/0000-0002-0183-1637
property_value: terms:contributor https://orcid.org/0000-0003-1785-7126
property_value: terms:contributor https://orcid.org/0000-0003-2291-6952
property_value: terms:contributor https://orcid.org/0000-0003-4958-6025
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-19T01:00:23Z

[Term]
id: HP:0012000
name: EEG with generalized spikes
def: "EEG with generalized sharp transient waves of a duration less than 80 msec." [HPO_CONTRIBUTOR:jalbers]
synonym: "EEG with generalised spikes" EXACT uk_spelling []
xref: UMLS:C2206531
is_a: HP:0011198 ! EEG with generalized epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-07-20T11:39:52Z

[Term]
id: HP:0012001
name: EEG with generalized polyspikes
def: "EEG with repetitive generalized sharp transient waves of a duration less than 80 msec." [HPO_CONTRIBUTOR:jalbers]
synonym: "EEG with generalised polyspikes" EXACT uk_spelling []
xref: UMLS:C4023088
is_a: HP:0011198 ! EEG with generalized epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-07-20T11:41:07Z

[Term]
id: HP:0012002
name: Experiential epileptic aura
def: "Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context." [https://orcid.org/0000-0002-0736-9199]
synonym: "Experiential aura" EXACT []
synonym: "Experiential auras" EXACT plural_form []
xref: UMLS:C4023087
is_a: HP:0033346 ! Psychic epileptic aura
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-07-20T11:50:13Z

[Term]
id: HP:0012003
name: Affective epileptic aura
def: "Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context." [https://orcid.org/0000-0002-0736-9199]
synonym: "Affective aura" EXACT []
synonym: "Affective auras" EXACT plural_form []
synonym: "Emotional aura" EXACT []
xref: UMLS:C4023086
is_a: HP:0033346 ! Psychic epileptic aura
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-07-20T11:52:11Z

[Term]
id: HP:0012004
name: Focal cognitive seizure with deja vu/jamais vu
alt_id: HP:0032697
def: "A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation." [https://orcid.org/0000-0002-0736-9199, PMID:28276060]
comment: See the Glossary of Descriptive Terminology for Ictal Semiology at http://www.ilae.org.
synonym: "Mnemonic aura" EXACT []
synonym: "Mnemonic auras" EXACT plural_form []
xref: UMLS:C4023085
is_a: HP:0012002 ! Experiential epileptic aura
is_a: HP:0032680 ! Focal cognitive seizure
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-07-20T11:53:39Z

[Term]
id: HP:0012005
name: Deja vu aura
def: "A subjective feeling that an experience which is occurring for the first time has been experienced before." [https://orcid.org/0000-0002-0736-9199]
synonym: "Deja vu" EXACT layperson []
xref: SNOMEDCT_US:313005
xref: UMLS:C0011194
is_a: HP:0012004 ! Focal cognitive seizure with deja vu/jamais vu
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-07-20T11:54:16Z

[Term]
id: HP:0012006
name: Jamais vu aura
def: "A subjective feeling that an experience which has occurred before is being experienced for the first time." [https://orcid.org/0000-0002-0736-9199]
synonym: "Jamais vu" EXACT []
xref: SNOMEDCT_US:28249008
xref: UMLS:C0233803
is_a: HP:0012004 ! Focal cognitive seizure with deja vu/jamais vu
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-07-20T11:55:38Z

[Term]
id: HP:0012007
name: Focal cognitive seizure with hallucination
alt_id: HP:0032703
def: "A focal cognitive seizure characterized by hallucination as the initial semiological manifestation." [https://orcid.org/0000-0002-0736-9199, PMID:28276060]
comment: Hallucination is the creation of composite perceptions without the presence of external sensory stimuli, these may be visual (e.g. formed images), auditory (e.g. hearing voices) or involve other sensory modalities, without change in awareness. The sensory phenomena may be accompanied by associated emotion or interpretation e.g. a formed visual image may be accompanied by fear, or may be experienced as persecutory or with paranoia (i.e. with unjustified suspicion / mistrust). These features distinguish focal seizures with hallucinations from focal sensory seizures.
synonym: "Hallucinatory aura" EXACT []
synonym: "Hallucinatory auras" EXACT plural_form []
xref: UMLS:C4023084
is_a: HP:0032680 ! Focal cognitive seizure
is_a: HP:0033347 ! Cognitive epileptic aura
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-07-20T11:56:47Z

[Term]
id: HP:0012008
name: Focal cognitive seizure with illusion
alt_id: HP:0032695
def: "A focal cognitive seizure characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena as the initial semiological manifestation." [https://orcid.org/0000-0002-0736-9199, PMID:28276060]
synonym: "Illusory aura" EXACT []
synonym: "Illusory auras" EXACT plural_form []
xref: UMLS:C4023083
is_a: HP:0032680 ! Focal cognitive seizure
is_a: HP:0033347 ! Cognitive epileptic aura
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-07-20T11:57:32Z

[Term]
id: HP:0012009
name: EEG with central focal spike waves
def: "EEG with focal sharp transient waves in the central region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023082
is_a: HP:0011197 ! EEG with focal spike waves
is_a: HP:0033718 ! EEG with central epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-07-20T11:58:18Z

[Term]
id: HP:0012010
name: EEG with frontal focal spike waves
def: "EEG with focal sharp transient waves in the frontal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023081
is_a: HP:0011197 ! EEG with focal spike waves
is_a: HP:0033716 ! EEG with frontal epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-07-20T11:59:21Z

[Term]
id: HP:0012011
name: EEG with occipital focal spike waves
def: "EEG with focal sharp transient waves in the occipital region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023080
is_a: HP:0011197 ! EEG with focal spike waves
is_a: HP:0033720 ! EEG with occipital epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-07-20T11:59:43Z

[Term]
id: HP:0012012
name: EEG with parietal focal spike waves
def: "EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023079
is_a: HP:0011197 ! EEG with focal spike waves
is_a: HP:0033719 ! EEG with parietal epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-07-20T12:00:43Z

[Term]
id: HP:0012013
name: EEG with temporal focal spike waves
def: "EEG with focal sharp transient waves in the temporal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023078
is_a: HP:0011197 ! EEG with focal spike waves
is_a: HP:0033717 ! EEG with temporal epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-07-20T12:01:01Z

[Term]
id: HP:0012014
name: EEG with central focal spikes
def: "EEG with focal sharp transient waves of a duration less than 80 msec in the central region." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023077
is_a: HP:0011193 ! EEG with focal spikes
is_a: HP:0033718 ! EEG with central epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-07-20T12:01:29Z

[Term]
id: HP:0012015
name: EEG with frontal focal spikes
def: "EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023076
is_a: HP:0011193 ! EEG with focal spikes
is_a: HP:0033716 ! EEG with frontal epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-07-20T12:02:12Z

[Term]
id: HP:0012016
name: EEG with occipital focal spikes
def: "EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023075
is_a: HP:0011193 ! EEG with focal spikes
is_a: HP:0033720 ! EEG with occipital epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-07-20T12:02:28Z

[Term]
id: HP:0012017
name: EEG with parietal focal spikes
def: "EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023074
is_a: HP:0011193 ! EEG with focal spikes
is_a: HP:0033719 ! EEG with parietal epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-07-20T12:02:43Z

[Term]
id: HP:0012018
name: EEG with temporal focal spikes
def: "EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region." [HPO_CONTRIBUTOR:jalbers]
xref: UMLS:C4023073
is_a: HP:0011193 ! EEG with focal spikes
is_a: HP:0033717 ! EEG with temporal epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-07-20T12:02:59Z

[Term]
id: HP:0012019
name: Lens luxation
def: "Complete dislocation of the lens of the eye." [https://orcid.org/0000-0002-0736-9199]
synonym: "Completely dislocated lens" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Completely dislocated lenses" EXACT plural_form []
xref: UMLS:C0023309
is_a: HP:0001083 ! Ectopia lentis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-26T10:40:02Z

[Term]
id: HP:0012020
name: Right aortic arch
def: "Aorta descends on right instead of on the left." [https://orcid.org/0000-0002-0736-9199]
comment: The are several types of right aortic arch (RAA). RAA can recognized radiographically by leftward displacement of barium-filled esophagus or of an air-filled trachea. The aortic knob is absent from left side, and the para-aortic stripe returns to left side of spine just above diaphragm.
synonym: "Right-sided aortic arch" EXACT []
xref: Fyler:2720
xref: SNOMEDCT_US:111321007
xref: SNOMEDCT_US:244229003
xref: UMLS:C0035615
is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-26T09:25:32Z

[Term]
id: HP:0012021
name: Persistent patent ductus venosus
def: "Persistence of blood flow through the ductus venosus for longer than the normal time after birth." [https://orcid.org/0000-0002-0736-9199, PMID:16449256]
comment: The ductus venosus is a bypass between the umbilical vein and the inferior vena cava in the fetus. The blood flow through this bypass decreases immediately after birth. Functional closure, which is followed by anatomic closure, is virtually complete within a few weeks of birth.
xref: UMLS:C4023072
is_a: HP:0034190 ! Abnormal fetal cardiovascular physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-26T10:10:58Z

[Term]
id: HP:0012022
name: Congenital portosystemic venous shunt
def: "A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver)." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:253330006
xref: UMLS:C0344688
is_a: HP:0034190 ! Abnormal fetal cardiovascular physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-26T10:16:40Z

[Term]
id: HP:0012023
name: Galactosuria
def: "Elevated concentration of galactose in the urine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased urinary galactose level" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:71690006
xref: UMLS:C0268157
is_a: HP:0031979 ! Abnormal urine carbohydrate level
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-26T10:31:35Z

[Term]
id: HP:0012024
name: Hypergalactosemia
def: "Elevated concentration of galactose in the blood." [https://orcid.org/0000-0002-0736-9199]
comment: Hypergalactosemia is used here to mean the increased concentration of galactose in the blood. Note that the word galactosemia is occasionally used with the same meaning but more commonly denotes the disease entity called galactosemia caused by mutations in the galactose-1-phosphate uridyltransferase gene (MIM:230400).
synonym: "Galactosemia" RELATED []
xref: SNOMEDCT_US:190745006
xref: SNOMEDCT_US:190749000
xref: UMLS:C0016952
xref: UMLS:C4023071
is_a: HP:0011013 ! Abnormal circulating carbohydrate concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-26T10:35:58Z

[Term]
id: HP:0012025
name: Abnormal circulating ornithine concentration
def: "Deviation from the normal concentration of ornithine in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
comment: Ornithine is an amino acid produced in the urea cycle by the splitting off of urea from arginine. Ornithine is a naturally occurring, non-proteinogenic amino acid found in meat, fish, dairy and eggs.
xref: UMLS:C4023070
is_a: HP:0033109 ! Abnormal circulating non-proteinogenic amino acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-26T10:48:59Z

[Term]
id: HP:0012026
name: Hyperornithinemia
def: "Increased concentration of ornithine in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "High blood ornithine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:276426004
xref: SNOMEDCT_US:33985005
xref: UMLS:C0599035
is_a: HP:0012025 ! Abnormal circulating ornithine concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-26T10:49:54Z

[Term]
id: HP:0012027
name: Laryngeal edema
def: "An abnormal accumulation of fluid and swelling in the tissues of the larynx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Laryngeal oedema" EXACT uk_spelling []
xref: SNOMEDCT_US:51599000
xref: UMLS:C0023052
is_a: HP:0000969 ! Edema
is_a: HP:0025423 ! Abnormal larynx morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-26T10:51:45Z

[Term]
id: HP:0012028
name: Hepatocellular adenoma
def: "A benign tumor of the liver of presumably epithelial origin." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hepatic adenoma" EXACT []
synonym: "Liver cell adenoma" EXACT []
xref: MPATH:353 "hepatocellular adenoma"
xref: SNOMEDCT_US:424263008
xref: SNOMEDCT_US:78058005
xref: UMLS:C0206669
is_a: HP:0002896 ! Neoplasm of the liver
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-27T01:24:44Z

[Term]
id: HP:0012029
name: Abnormal urine hormone level
def: "An abnormal concentration of a hormone in the urine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of urine hormone level" EXACT []
xref: UMLS:C4023069
is_a: HP:0000818 ! Abnormality of the endocrine system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-27T01:29:51Z

[Term]
id: HP:0012030
name: Increased urinary cortisol level
def: "Abnormally increased concentration of cortisol in the urine." [https://orcid.org/0000-0002-0736-9199]
synonym: "High urine cortisol level" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023068
is_a: HP:0012029 ! Abnormal urine hormone level
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-27T01:30:44Z

[Term]
id: HP:0012031
name: Lipomatous tumor
synonym: "Lipomatous tumour" EXACT uk_spelling []
xref: MPATH:415 "lipomatous tumor"
xref: SNOMEDCT_US:115227001
xref: SNOMEDCT_US:254827004
xref: SNOMEDCT_US:254831005
xref: UMLS:C0206631
is_a: HP:0200013 ! Neoplasm of fatty tissue
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-27T01:32:28Z

[Term]
id: HP:0012032
name: Lipoma
def: "Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous." [MPATH:417]
subset: hposlim_core
synonym: "Fatty lump" EXACT layperson []
synonym: "Noncancerous fatty lump" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MEDDRA:10024612 "Lipoma"
xref: MPATH:417 "lipoma"
xref: SNOMEDCT_US:46720004
xref: SNOMEDCT_US:93163002
xref: UMLS:C0023798
is_a: HP:0012031 ! Lipomatous tumor
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-27T01:33:13Z

[Term]
id: HP:0012033
name: Sacral lipoma
def: "Presence of a lipoma in the region of the sacrum." [https://orcid.org/0000-0002-0736-9199, PMID:30264029]
comment: For an example, see Figure 1 of PMID:30264029.
xref: UMLS:C4021835
is_a: HP:6000590 ! Spinal lipoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-27T01:37:57Z

[Term]
id: HP:0012034
name: Liposarcoma
def: "Malignant neoplasms which probably originate in primitive mesenchymal stem cell populations differentiating down a lipomatous pathway." [MPATH:418]
xref: MPATH:418 "Liposarcoma"
xref: SNOMEDCT_US:254829001
xref: SNOMEDCT_US:49430005
xref: UMLS:C0023827
is_a: HP:0012031 ! Lipomatous tumor
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-27T01:40:25Z

[Term]
id: HP:0012035
name: Steatocystoma multiplex
def: "Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities)." [https://orcid.org/0000-0002-0736-9199, PMID:20631281]
comment: Steatocystoma multiplex can present with localized, generalized, facial, acral, or suppurative involvement.
xref: SNOMEDCT_US:109433009
xref: UMLS:C0259771
is_a: HP:0008069 ! Neoplasm of the skin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-27T01:45:14Z

[Term]
id: HP:0012036
name: Sternocleidomastoid amyotrophy
def: "Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023067
is_a: HP:0003202 ! Skeletal muscle atrophy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-27T01:51:24Z

[Term]
id: HP:0012037
name: Pectoralis amyotrophy
def: "Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor. This finding is often manifested by prominent axillary creases or double axillary creases." [https://orcid.org/0000-0002-0736-9199]
synonym: "Wasting of pec muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023066
is_a: HP:0003202 ! Skeletal muscle atrophy
is_a: HP:0011957 ! Abnormal pectoral muscle morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-27T01:55:38Z

[Term]
id: HP:0012038
name: Corneal guttata
def: "Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible." [https://orcid.org/0000-0002-0736-9199, PMID:10611102, PMID:11222329]
comment: Corneal guttata are often observed in elderly people and are known to be associated with Fuchs corneal endothelial dystrophy, and also with trauma, congenital glaucoma, and macular dystrophy.
synonym: "Corneal endothelial guttata" EXACT []
synonym: "Corneal guttae" EXACT []
xref: SNOMEDCT_US:373424008
xref: UMLS:C0271288
is_a: HP:0011490 ! Abnormal Descemet membrane morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-27T02:06:24Z

[Term]
id: HP:0012039
name: Descemet Membrane Folds
def: "Presence of folds in the Descemet membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descemet membrane folds are generally a manifestation of inflammation or edema of the cornea." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:193821003
xref: UMLS:C0155116
is_a: HP:0011490 ! Abnormal Descemet membrane morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-27T02:14:55Z

[Term]
id: HP:0012040
name: Corneal stromal edema
def: "Abnormal accumulation of fluid and swelling of the stroma of cornea." [https://orcid.org/0000-0002-0736-9199]
synonym: "Corneal stromal oedema" EXACT uk_spelling []
xref: SNOMEDCT_US:373430008
xref: UMLS:C0474444
is_a: HP:0000969 ! Edema
is_a: HP:0011492 ! Abnormal corneal stroma morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-27T02:19:25Z

[Term]
id: HP:0012041
name: Decreased fertility in males
synonym: "Decreased fertility in males" EXACT layperson []
xref: UMLS:C0151640
is_a: HP:0000144 ! Decreased fertility
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-07-30T06:50:19Z

[Term]
id: HP:0012042
name: Aspirin-induced asthma
def: "A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction." [PMID:12743549]
synonym: "Aspirin-induced asthma" EXACT layperson []
xref: SNOMEDCT_US:407674008
xref: UMLS:C1319853
is_a: HP:0002099 ! Asthma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-01T11:22:04Z

[Term]
id: HP:0012043
name: Pendular nystagmus
def: "Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Nystagmus, continuous pendular" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Nystagmus, pendular" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:35743001
xref: UMLS:C0271388
xref: UMLS:C4020734
is_a: HP:0000639 ! Nystagmus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-01T12:04:00Z

[Term]
id: HP:0012044
name: Seesaw nystagmus
def: "Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements." [https://orcid.org/0000-0002-0736-9199]
comment: Seesaw nystagmus can be a manifestation of lesions of the optic chiasma.
xref: SNOMEDCT_US:95782001
xref: UMLS:C0344243
is_a: HP:0012043 ! Pendular nystagmus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-01T12:06:36Z

[Term]
id: HP:0012045
name: Retinal flecks
def: "Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions." [PMID:7952338]
xref: SNOMEDCT_US:247138002
xref: UMLS:C0423414
is_a: HP:0030506 ! Yellow/white lesions of the retina
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-01T12:17:00Z

[Term]
id: HP:0012046
name: Areflexia of upper limbs
def: "Inability to elicit tendon reflexes in the upper limbs." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C2674177
is_a: HP:0001284 ! Areflexia
is_a: HP:0002817 ! Abnormality of the upper limb
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-01T12:24:31Z

[Term]
id: HP:0012047
name: Hemeralopia
def: "A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness." [https://orcid.org/0000-0002-0736-9199]
synonym: "Day blindness" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:399323001
xref: UMLS:C0018975
is_a: HP:0000504 ! Abnormality of vision
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-01T12:26:28Z

[Term]
id: HP:0012048
name: Oromandibular dystonia
alt_id: HP:0001494
def: "A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cranial dystonia" EXACT []
xref: UMLS:C2242577
is_a: HP:0012179 ! Craniofacial dystonia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-01T12:29:50Z

[Term]
id: HP:0012049
name: Laryngeal dystonia
def: "A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech." [https://orcid.org/0000-0002-0736-9199]
synonym: "Spasmodic dysphonia" EXACT []
xref: SNOMEDCT_US:3331000119108
xref: UMLS:C1963946
is_a: HP:0001618 ! Dysphonia
is_a: HP:0004373 ! Focal dystonia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-01T12:34:41Z

[Term]
id: HP:0012050
name: Anasarca
def: "An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space." [https://orcid.org/0000-0002-0736-9199]
synonym: "Extreme generalised oedema" EXACT uk_spelling []
synonym: "Extreme generalized edema" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:16740003
xref: SNOMEDCT_US:442433009
xref: UMLS:C0151603
is_a: HP:0007430 ! Generalized edema
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-01T12:53:48Z

[Term]
id: HP:0012051
name: Reactive hypoglycemia
def: "Hypoglycermia following a meal (or more generally, after intake of glucose)." [https://orcid.org/0000-0002-0736-9199]
comment: Reactive hypoglycemia may be the result of an exaggerated insulin response.
synonym: "Low blood sugar after a meal" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Postprandial hypoglycemia" EXACT []
xref: SNOMEDCT_US:237638000
xref: SNOMEDCT_US:317006
xref: UMLS:C0271710
is_a: HP:0001943 ! Hypoglycemia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-01T12:57:57Z

[Term]
id: HP:0012052
name: Low serum calcitriol
def: "A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3." [https://orcid.org/0000-0002-0736-9199]
synonym: "Low serum 1,25-dihydroxycholecalciferol" EXACT []
synonym: "Low serum 1,25-dihydroxyvitamin D3" EXACT []
xref: UMLS:C4023065
is_a: HP:0100511 ! Abnormality of vitamin D metabolism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-01T01:02:39Z

[Term]
id: HP:0012053
name: Decreased circulating calcifediol concentration
def: "A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased 25-hydroxyvitamin D3" EXACT []
synonym: "Low serum 25-hydroxycholecalciferol" EXACT []
synonym: "Low serum calcidiol" EXACT []
synonym: "Low serum calcifediol" EXACT []
xref: UMLS:C4023064
is_a: HP:0100511 ! Abnormality of vitamin D metabolism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-01T01:04:42Z

[Term]
id: HP:0012054
name: Choroidal melanoma
def: "Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented)." [https://orcid.org/0000-0002-0736-9199, PMID:22557869]
xref: NCIT:C3224
xref: SNOMEDCT_US:255021005
xref: UMLS:C0346388
is_a: HP:0007716 ! Uveal melanoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-01T01:59:00Z

[Term]
id: HP:0012055
name: Ciliary body melanoma
def: "Malignant tumor of melanocytes of the ciliary body." [https://orcid.org/0000-0002-0736-9199]
xref: NCIT:C3224
xref: SNOMEDCT_US:255015006
xref: UMLS:C0346379
is_a: HP:0007716 ! Uveal melanoma
is_a: HP:0012776 ! Abnormal ciliary body morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-01T02:01:02Z

[Term]
id: HP:0012056
name: Cutaneous melanoma
def: "The presence of a melanoma of the skin." [https://orcid.org/0000-0002-0736-9199]
comment: The phenotypic presentation of melanomas is often described using the ABCDE mnemomic: A) Asymmetry; B) Borders of the lesion are irregular; C) Color changes from one area of the lesion to another, with shades of tan, brown, or black, and sometimes white, red, or blue; D) Diameter of the lesionis usually larger than 6 mm; E) Evolution of the appearance of the lesion with time. These rules do not, however, apply to every melanoma.
xref: NCIT:C3224
xref: SNOMEDCT_US:2092003
xref: SNOMEDCT_US:372244006
xref: UMLS:C0025202
is_a: HP:0002861 ! Melanoma
is_a: HP:0008069 ! Neoplasm of the skin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-01T02:04:21Z

[Term]
id: HP:0012057
name: Superficial spreading melanoma
def: "A type of melanoma that is flat and irregular in shape and color, with different shades of black and brown." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:254730000
xref: SNOMEDCT_US:55320002
xref: UMLS:C0334438
is_a: HP:0012056 ! Cutaneous melanoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-01T02:07:52Z

[Term]
id: HP:0012058
name: Nodular melanoma
def: "A type of melanoma that starts as a raised area that is usually dark blackish-blue or bluish-red but may not have any color." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:2142002
xref: SNOMEDCT_US:254731001
xref: UMLS:C0334424
is_a: HP:0012056 ! Cutaneous melanoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-01T02:08:50Z

[Term]
id: HP:0012059
name: Lentigo maligna melanoma
def: "A subtype of melanoma in situ that typically develops on sun-damaged skin. The lesion is typically a large, irregularly pigmented macule that has developed from an ordinary lentigo (a small pigmented spot on the skin with a clearly-defined edge). Change to a malignant lentigo typically takes place over 20 years or more, and many patients accept the change as a consequence of aging." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:302837001
xref: SNOMEDCT_US:44474009
xref: UMLS:C2739810
is_a: HP:0012056 ! Cutaneous melanoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-01T02:16:45Z

[Term]
id: HP:0012060
name: Acral lentiginous melanoma
def: "A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discolored skin and usually displays a size above 6 mm and often several centimeters or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:16974005
xref: SNOMEDCT_US:254732008
xref: UMLS:C0346037
is_a: HP:0012056 ! Cutaneous melanoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-01T02:17:02Z

[Term]
id: HP:0012061
name: Urinary excretion of sialylated oligosaccharides
def: "Excretion of oligosaccharides conjugated to sialic acid in the urine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased urinary sialyloligosaccharides" EXACT []
xref: UMLS:C2673302
is_a: HP:0010471 ! Oligosacchariduria
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-08-04T02:14:44Z

[Term]
id: HP:0012062
name: Bone cyst
alt_id: HP:0100696
def: "A fluid filled cavity that develops with a bone." [https://orcid.org/0000-0002-0736-9199]
comment: Many bone cysts are asymptomatic. However, larger cysts can make the bone more susceptible to fracture.
synonym: "Bone cyst" EXACT layperson []
synonym: "Bone cysts" EXACT layperson []
xref: SNOMEDCT_US:112643007
xref: SNOMEDCT_US:203465002
xref: SNOMEDCT_US:203467005
xref: SNOMEDCT_US:66954000
xref: UMLS:C0005937
is_a: HP:0003330 ! Abnormal bone structure
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-08-03T02:35:39Z

[Term]
id: HP:0012063
name: Aneurysmal bone cyst
def: "Radiographic features include a dilated, radiolucent lesion typically located eccentrically within the metaphyseal portion of the bone, with fluid levels visible on magnetic resonance imaging." [https://orcid.org/0000-0002-0736-9199, PMID:22474093, PMID:7863874]
xref: SNOMEDCT_US:203468000
xref: SNOMEDCT_US:76000001
xref: UMLS:C0152244
is_a: HP:0012062 ! Bone cyst
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-08-03T02:35:52Z

[Term]
id: HP:0012064
name: Unicameral bone cyst
def: "A benign fluid filled simple cyst of bone filled with serous fluid." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:112643007
xref: SNOMEDCT_US:203467005
xref: UMLS:C4082185
is_a: HP:0012062 ! Bone cyst
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-08-03T02:42:14Z

[Term]
id: HP:0012065
name: Multiple bony cystic lesions
def: "Presence of multiple cystic changes in multiple areas or multiple bones." [https://orcid.org/0000-0002-0736-9199]
synonym: "Multiple bony cystic lesions" EXACT layperson []
xref: UMLS:C4023063
is_a: HP:0012062 ! Bone cyst
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-08-03T02:45:09Z

[Term]
id: HP:0012066
name: Increased urinary disaccharide excretion
def: "Increased concentration of disaccharide in the urine." [https://orcid.org/0000-0002-0736-9199]
comment: Excess amount of disaccharides such as mannosyl-N-acetylglucosamine excreted in the urine.
xref: UMLS:C4023062
is_a: HP:0010471 ! Oligosacchariduria
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-08-04T02:54:28Z

[Term]
id: HP:0012067
name: Glycopeptiduria
def: "Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues." [https://orcid.org/0000-0002-0736-9199]
comment: This feature is often the result of a defect in glycosidase activate. Glycosidases catalyze the release of sugar moieties.
synonym: "High urine glycopeptide levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023061
is_a: HP:0033354 ! Abnormal urine metabolite level
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-08-04T03:03:03Z

[Term]
id: HP:0012068
name: Aspartylglucosaminuria
def: "Excretion of excess amounts of aspartylglucosamine in the urine." [https://orcid.org/0000-0002-0736-9199]
synonym: "High urine aspartylglucosamine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:54954004
xref: UMLS:C0268225
is_a: HP:0012067 ! Glycopeptiduria
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-08-04T03:15:37Z

[Term]
id: HP:0012069
name: Keratan sulfate excretion in urine
def: "An increased concentration of keratan sulfate in the urine." [https://orcid.org/0000-0002-0736-9199]
comment: Keratan sulfate is a a glycosaminoglycan.
synonym: "Keratan sulphate excretion in urine" EXACT uk_spelling []
xref: UMLS:C4023060
is_a: HP:0008155 ! Mucopolysacchariduria
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-08-04T03:20:15Z

[Term]
id: HP:0012070
name: Chondroitin sulfate excretion in urine
def: "An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine." [https://orcid.org/0000-0002-0736-9199]
comment: Chondroitin sulfate refers to a class of 10-60 kDa glycosaminoglycan sulfates, which are widely distributed in cartilage.
synonym: "Chondroitin sulphate excretion in urine" EXACT uk_spelling []
xref: UMLS:C4023059
is_a: HP:0008155 ! Mucopolysacchariduria
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-08-04T03:22:36Z

[Term]
id: HP:0012071
name: Abnormal circulating acylcarnitine concentration
def: "Any deviation from the normal concentration in the blood circulation of an acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine." [https://orcid.org/0000-0002-0736-9199, PMID:18281923, PMID:23258903, PMID:6348429]
comment: Acylcarnitines are esters of l-carnitine and fatty acids. Therefore, it is inferred that the number of acylcarnitines that may be formed with these fatty acids is very considerable. Similar to fatty acids, acylcarnitines are also differed by length of the acyl groups, often categorized as short, medium and long-chain acylcarnitines (simply marked as SCACs, MCACs and LCACs). Carnitine fundergoes reversible esterification of its 3-hydroxyl group producing acylcarnitine, which can enter the mitochondria with the assistance of specific translocases.
synonym: "Abnormal acetylcarnitine profile" RELATED []
synonym: "Abnormal circulating esterified carnitine concentration" EXACT []
xref: UMLS:C4020733
xref: UMLS:C4023058
is_a: HP:0010966 ! Abnormal circulating fatty-acid anion concentration
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-08-11T09:03:41Z

[Term]
id: HP:0012072
name: Aciduria
def: "Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration." [https://orcid.org/0000-0002-0736-9199]
synonym: "Acidic urine" EXACT layperson []
xref: SNOMEDCT_US:21806007
xref: UMLS:C0278026
is_a: HP:0032943 ! Abnormal urine pH

[Term]
id: HP:0012073
name: Abnormal urinary acylglycine profile
def: "An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution." [https://orcid.org/0000-0002-0736-9199, PMID:10870848]
comment: N-acylglycines result from glycine conjugation with exogenous compounds to enhance their excretion in urine. Glycine conjugation is also an effective detoxification system for preventing accumulation of acyl-CoA esters in several inherited metabolic disorders.
xref: UMLS:C4023057
is_a: HP:0033097 ! Increased urine proteinogenic amino acid derivative level
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-08-11T09:46:03Z

[Term]
id: HP:0012074
name: Tonic pupil
def: "An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Adie pupil" EXACT []
synonym: "Adie's tonic pupil" EXACT []
xref: SNOMEDCT_US:24225004
xref: UMLS:C0040416
is_a: HP:0007686 ! Abnormal pupillary function
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-08-11T09:58:20Z

[Term]
id: HP:0012075
name: Personality disorder
def: "A personality disorder is a deeply ingrained pattern of behavior of a specified kind that deviates markedly from the norms of generally accepted behavior. It is typically apparent by the time of adolescence and causes long-term difficulties in personal relationships or functioning in society." []
comment: A personality disorder is generally associated with significant problems and limitations in relationships, social encounters, work, and school. It usually manifests since childhood or adolescence and continues throughout adulthood.
xref: ICD-10:F60 "Specific personality disorders"
xref: SNOMEDCT_US:33449004
xref: UMLS:C0031212
is_a: HP:0031466 ! Impairment in personality functioning
property_value: terms:contributor https://orcid.org/0000-0002-1111-7357
property_value: terms:contributor https://orcid.org/0000-0002-7954-5235
property_value: terms:contributor https://orcid.org/0000-0003-2897-0458
property_value: terms:contributor https://orcid.org/0000-0003-4298-5074
property_value: terms:contributor https://orcid.org/0000-0003-4618-6544
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-08-11T02:20:27Z

[Term]
id: HP:0012076
name: Borderline personality disorder
def: "A personality disorder characterized by impulsive behavior and unpredictable, capricious mood. Affected individuals show a tendency to have outbursts of emotion and an inability to control these behavioral explosions. They generally experience an intense fear of abandonment or instability and also struggle with feelings of emptiness." []
synonym: "BPD" EXACT abbreviation []
synonym: "Emotionally unstable personality disorder" EXACT []
synonym: "EUPD" EXACT abbreviation []
xref: ICD-10:F60.3 "Emotionally unstable personality disorder, borderline type"
xref: SNOMEDCT_US:20010003
xref: UMLS:C0006012
is_a: HP:0012075 ! Personality disorder
property_value: terms:contributor https://orcid.org/0000-0002-1111-7357
property_value: terms:contributor https://orcid.org/0000-0002-7954-5235
property_value: terms:contributor https://orcid.org/0000-0003-2897-0458
property_value: terms:contributor https://orcid.org/0000-0003-4298-5074
property_value: terms:contributor https://orcid.org/0000-0003-4618-6544
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-08-11T02:26:02Z

[Term]
id: HP:0012077
name: Histrionic personality disorder
def: "A personality disorder characterized by shallow and labile affectivity, self-dramatization, theatricality, exaggerated expression of emotions, suggestibility, egocentricity, self-indulgence, lack of consideration for others, easily hurt feelings, and continuous seeking for appreciation, excitement and attention." [ICD-10:F60.4]
xref: ICD-10:F60.4 "Histrionic personality disorder"
xref: SNOMEDCT_US:55341008
xref: UMLS:C0019681
is_a: HP:0012075 ! Personality disorder
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-08-11T02:38:39Z

[Term]
id: HP:0012078
name: Motor conduction block
def: "Blockade of impulses at a focal site along the course of a motor axon." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023056
is_a: HP:0000762 ! Decreased nerve conduction velocity
is_a: HP:0040131 ! Abnormal motor nerve conduction velocity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-18T04:34:49Z

[Term]
id: HP:0012079
name: Abnormality of central motor conduction
def: "Any anomaly of the conduction of motor nerve impulses in the central nervous system." [https://orcid.org/0000-0002-0736-9199, PMID:3572430]
comment: Nerve conduction velocity in the central motor pathways of the brain and spinal cord can be studied by methods including transcutaneous electrical stimulation of the cortex, cervical cord, thoracic cord and conus medullaris and determination of motor latencies to various muscles. This measure is thought to represent conduction in large diameter fibers in the corticospinal tracts.
xref: UMLS:C4023055
is_a: HP:0011442 ! Abnormal central motor function
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-18T04:41:05Z

[Term]
id: HP:0012080
name: Cerebellar granular layer atrophy
def: "Atrophy of the cerebellum affecting primarily the granular cell layer." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023054
is_a: HP:0001272 ! Cerebellar atrophy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-18T05:23:55Z

[Term]
id: HP:0012081
name: Enlarged cerebellum
def: "An abnormally increased size of the cerebellum compared to other brain structures." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C3278024
is_a: HP:0001317 ! Abnormal cerebellum morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-18T05:29:26Z

[Term]
id: HP:0012082
name: Cerebellar Purkinje layer atrophy
def: "Atrophy of the cerebellum affecting primarily the Purkinje cell layer." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023053
is_a: HP:0001272 ! Cerebellar atrophy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-18T05:31:43Z

[Term]
id: HP:0012083
name: Ubiquitin-positive cerebral inclusion bodies
def: "Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023052
is_a: HP:0100314 ! Cerebral inclusion bodies
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-18T05:34:56Z

[Term]
id: HP:0012084
name: Abnormality of skeletal muscle fiber size
def: "Any abnormality of the size of the skeletal muscle cell." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of skeletal muscle fibre size" EXACT uk_spelling []
xref: UMLS:C4023051
is_a: HP:0004303 ! Abnormal muscle fiber morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-20T03:19:54Z

[Term]
id: HP:0012085
name: Pyuria
def: "The presence of 10 or more white cells per cubic millimeter in a urine specimen, 3 or more white cells per high-power field of unspun urine, a positive result on Gram staining of an unspun urine specimen, or a urinary dipstick test that is positive for leukocyte esterase." [https://orcid.org/0000-0002-0736-9199, PMID:25760357]
synonym: "High urine neutrophil count" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Leukocyturia" RELATED []
xref: SNOMEDCT_US:275765006
xref: SNOMEDCT_US:4800001
xref: UMLS:C0034359
is_a: HP:0012614 ! Abnormal urine cytology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-20T09:10:26Z

[Term]
id: HP:0012086
name: Abnormal urinary color
def: "An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal urinary color" EXACT layperson []
synonym: "Abnormal urine color" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormal urine colour" EXACT uk_spelling []
xref: SNOMEDCT_US:102867009
xref: SNOMEDCT_US:167239007
xref: UMLS:C0522153
is_a: HP:0033072 ! Abnormal macroscopic urine appearance
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-20T09:12:30Z

[Term]
id: HP:0012087
name: Abnormal mitochondrial shape
def: "An anomaly in the surface contour of mitochondria." [https://orcid.org/0000-0002-0736-9199, MP:0011633]
xref: UMLS:C4023050
is_a: HP:0008322 ! Abnormal mitochondrial morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-08T11:02:39Z

[Term]
id: HP:0012088
name: Abnormal urinary odor
def: "A deviation from the normal odor of the urine." [https://orcid.org/0000-0002-0736-9199]
comment: Urine does not usually have a strong smell, but the odor may be altered by a number of factors including some diseases. Foul-smelling urine may be due to bacteria that have caused a urinary tract infection. Sweet-smelling urine may be a sign of uncontrolled diabetes or more rarely a disease of metabolism. Liver disease and certain metabolic disorders may cause musty-smelling urine.
synonym: "Abnormal urinary odor" EXACT layperson []
synonym: "Abnormal urine smell" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:8769003
xref: UMLS:C0278045
is_a: HP:0033072 ! Abnormal macroscopic urine appearance
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-20T09:13:26Z

[Term]
id: HP:0012089
name: Arteritis
def: "Arterial inflammation." [https://orcid.org/0000-0002-0736-9199]
synonym: "Inflammation of artery" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:52089001
xref: UMLS:C0003860
is_a: HP:0011004 ! Abnormal systemic arterial morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-20T09:15:19Z

[Term]
id: HP:0012090
name: Abnormal pancreas morphology
synonym: "Abnormality of pancreas morphology" EXACT []
synonym: "Abnormally shaped pancreas" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4023049
is_a: HP:0001732 ! Abnormality of the pancreas
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-20T09:16:38Z

[Term]
id: HP:0012091
name: Abnormality of pancreas physiology
def: "An anomaly of the function of the pancreas." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023048
is_a: HP:0001732 ! Abnormality of the pancreas
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-20T09:17:10Z

[Term]
id: HP:0012092
name: Abnormality of exocrine pancreas physiology
def: "A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal exocrine pancreatic function" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C4021103
is_a: HP:0012091 ! Abnormality of pancreas physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-20T09:17:46Z

[Term]
id: HP:0012093
name: Abnormality of endocrine pancreas physiology
def: "A function abnormality of the endocrine pancreas." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023047
is_a: HP:0000818 ! Abnormality of the endocrine system
is_a: HP:0012091 ! Abnormality of pancreas physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-20T09:18:18Z

[Term]
id: HP:0012094
name: Abnormal pancreas size
def: "A deviation from the normal size of the pancreas." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal pancreas size" EXACT layperson []
xref: UMLS:C4023046
is_a: HP:0012090 ! Abnormal pancreas morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-20T09:19:08Z

[Term]
id: HP:0012095
name: Multiple joint dislocation
def: "Dislocation of many joints." [https://orcid.org/0000-0002-0736-9199]
synonym: "Multiple joint dislocations" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:287096003
xref: SNOMEDCT_US:34277002
xref: UMLS:C0332792
is_a: HP:0001373 ! Joint dislocation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-20T09:19:52Z

[Term]
id: HP:0012096
name: Intracranial epidermoid cyst
def: "A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development." [https://orcid.org/0000-0002-0736-9199, PMID:16714456]
comment: See Figure 8 in PMID:16714456. Epidermoid cysts arise from ectodermal inclusion during neural tube closure in the 3rd-5th week of embryogenesis. The microscopic cyst lining consists of stratified squamous epithelium supported by an outer layer of collagenous connective tissue. Cystic contents usually include debris, keratin, water, and cholesterol laid down in a lamellar fashion. Epidermoid cysts do not contain dermal appendages.
xref: UMLS:C4023045
is_a: HP:0010576 ! Intracranial cystic lesion
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-20T09:21:24Z

[Term]
id: HP:0012097
name: Intracranial dermoid cyst
def: "A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands." [https://orcid.org/0000-0002-0736-9199, PMID:16714456]
comment: See Figure 9 in PMID:16714456. These cysts increase in size by means of glandular secretion and epithelial desquamation. Growth can lead to rupture of the cyst contents, causing a chemical meningitis that may lead to vasospasm, infarction, and even death.
xref: UMLS:C4023044
is_a: HP:0010576 ! Intracranial cystic lesion
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-20T09:22:25Z

[Term]
id: HP:0012098
name: Edema of the dorsum of feet
def: "An abnormal accumulation of fluid beneath the skin on the back of the feet." [https://orcid.org/0000-0002-0736-9199]
synonym: "Edema of dorsum of feet" EXACT []
synonym: "Oedema of dorsum of feet" EXACT uk_spelling []
synonym: "Oedema of the dorsum of feet" EXACT uk_spelling []
xref: SNOMEDCT_US:445124008
xref: UMLS:C2919341
is_a: HP:0010741 ! Pedal edema
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-08-20T09:33:33Z

[Term]
id: HP:0012099
name: Abnormality of circulating catecholamine level
def: "An abnormal catecholamine concentration in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Catecholamine levels abnormal" EXACT []
xref: UMLS:C4021102
is_a: HP:0003117 ! Abnormal circulating hormone concentration
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-08-22T08:20:01Z

[Term]
id: HP:0012100
name: Abnormal circulating creatinine concentration
def: "An abnormal concentration of creatinine in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal blood creatinine level" EXACT layperson []
synonym: "Abnormal circulating creatinine level" EXACT []
synonym: "Creatinine levels abnormal" EXACT layperson []
xref: UMLS:C4021101
is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-08-22T08:40:14Z

[Term]
id: HP:0012101
name: Decreased serum creatinine
def: "An abnormally reduced amount of creatinine in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased serum creatinine" EXACT layperson []
synonym: "Low blood creatinine level" EXACT layperson []
synonym: "Reduced creatinine levels" EXACT layperson []
xref: SNOMEDCT_US:166715006
xref: UMLS:C0428282
is_a: HP:0012100 ! Abnormal circulating creatinine concentration
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-08-22T08:42:16Z

[Term]
id: HP:0012102
name: Abnormal mitochondrial number
def: "A deviation from the normal number of mitochondria per cell." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023043
is_a: HP:0008322 ! Abnormal mitochondrial morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-08T11:03:33Z

[Term]
id: HP:0012103
name: Abnormality of the mitochondrion
def: "An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration." [https://orcid.org/0000-0002-0736-9199]
synonym: "Mitochondrial abnormalities" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C4020732
xref: UMLS:C4023042
is_a: HP:0011017 ! Abnormal cellular physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-08T11:05:06Z

[Term]
id: HP:0012104
name: Parietal cortical atrophy
def: "Atrophy of the parietal cortex." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023041
is_a: HP:0002120 ! Cerebral cortical atrophy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-08T02:50:05Z

[Term]
id: HP:0012105
name: Occipital cortical atrophy
def: "Atrophy of the occipital cortex." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023040
is_a: HP:0002120 ! Cerebral cortical atrophy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-08T02:50:53Z

[Term]
id: HP:0012106
name: Rhizomelic leg shortening
def: "Disproportionate shortening of the proximal segment of the leg (i.e. the femur)." [https://orcid.org/0000-0002-0736-9199]
comment: This term implies that the fibula and tibia are not substantially shortened.
xref: UMLS:C4023039
is_a: HP:0008905 ! Rhizomelia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-08T03:53:33Z

[Term]
id: HP:0012107
name: Increased fibular diameter
alt_id: HP:0200082
def: "Increased width of the cross sectional diameter of the fibula." [https://orcid.org/0000-0002-0736-9199, MP:0008159]
synonym: "Thick fibula" EXACT []
synonym: "Thick fibulae" EXACT []
synonym: "Wide calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Wide fibula" EXACT []
xref: UMLS:C4021100
is_a: HP:0002991 ! Abnormal fibula morphology
is_a: HP:0005622 ! Broad long bones
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-08T04:03:50Z

[Term]
id: HP:0012108
name: Open angle glaucoma
def: "A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure," [https://orcid.org/0000-0002-0736-9199, PMID:11815354]
comment: Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disk ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis.
synonym: "Primary open angle glaucoma" RELATED []
xref: SNOMEDCT_US:77075001
xref: UMLS:C0339573
is_a: HP:0000501 ! Glaucoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-10T05:17:24Z

[Term]
id: HP:0012109
name: Angle closure glaucoma
alt_id: HP:0032119
def: "A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact)." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123, PMID:11815354]
comment: Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disk ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis.
synonym: "Closed-angle glaucoma" EXACT []
synonym: "Narrow angle glaucoma" EXACT []
synonym: "Primary angle closure glaucoma" RELATED []
xref: SNOMEDCT_US:392288006
xref: UMLS:C0017606
is_a: HP:0000501 ! Glaucoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-10T05:22:48Z

[Term]
id: HP:0012110
name: Hypoplasia of the pons
def: "Underdevelopment of the pons." [https://orcid.org/0000-0002-0736-9199]
synonym: "Pontine hypoplasia" EXACT []
xref: UMLS:C1848529
is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system
is_a: HP:0007361 ! Abnormal pons morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-10T05:35:36Z

[Term]
id: HP:0012111
name: Abnormality of circulating glucocorticoid level
def: "An abnormality of the concentration of a glucocorticoid in the blood." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023038
is_a: HP:0003117 ! Abnormal circulating hormone concentration
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-09-16T04:22:26Z

[Term]
id: HP:0012112
name: Abnormal circulating corticosterone level
def: "An abnormality of the concentration of corticosterone in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of circulating corticosterone level" EXACT []
xref: UMLS:C4023037
is_a: HP:0012111 ! Abnormality of circulating glucocorticoid level
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-09-16T04:23:55Z

[Term]
id: HP:0012113
name: Abnormal circulating creatine concentration
def: "A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarily for muscle cells." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of creatine metabolism" EXACT layperson []
synonym: "Creatine metabolism abnormal" RELATED layperson []
xref: UMLS:C4020731
is_a: HP:0430071 ! Abnormal circulating organic compound concentration
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-09-16T04:29:41Z

[Term]
id: HP:0012114
name: Endometrial carcinoma
def: "A carcinoma of the endometrium, the mucous lining of the uterus." [https://orcid.org/0000-0002-0736-9199, NCIT:C7558]
xref: SNOMEDCT_US:254878006
xref: UMLS:C0476089
is_a: HP:0010784 ! Uterine neoplasm
is_a: HP:0030126 ! Abnormal endometrium morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-09-16T04:37:32Z

[Term]
id: HP:0012115
name: Hepatitis
def: "Inflammation of the liver." [https://orcid.org/0000-0002-0736-9199]
synonym: "Liver inflammation" EXACT layperson []
xref: SNOMEDCT_US:128241005
xref: UMLS:C0019158
is_a: HP:0012649 ! Increased inflammatory response
is_a: HP:0410042 ! Abnormal liver morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-09-16T05:03:29Z

[Term]
id: HP:0012116
name: Abnormal circulating albumin concentration
def: "Deviation from normal concentration of albumin in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal albumin level" EXACT layperson []
xref: UMLS:C4023036
is_a: HP:0010876 ! Abnormal circulating protein concentration
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-09-16T05:14:53Z

[Term]
id: HP:0012117
name: Hyperalbuminemia
def: "Elevation in the concentration of albumin in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "High albumin" BROAD layperson []
synonym: "High blood albumin levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Hyperalbuminaemia" EXACT []
xref: SNOMEDCT_US:119248009
xref: UMLS:C1142113
is_a: HP:0012116 ! Abnormal circulating albumin concentration
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-09-16T05:15:41Z

[Term]
id: HP:0012118
name: Laryngeal carcinoma
def: "A carcinoma of the larynx." [https://orcid.org/0000-0002-0736-9199, NCIT:C4855]
comment: Laryngeal carcinoma often is related to a history of smoking and may manifest by hoarseness, a lump in the neck, persistent cough, stridor and other symptoms.
synonym: "Cancer of the larynx" EXACT []
synonym: "Laryngeal cancer" EXACT []
xref: SNOMEDCT_US:276975007
xref: UMLS:C0595989
is_a: HP:0100605 ! Neoplasm of the larynx
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-09-16T05:28:05Z

[Term]
id: HP:0012119
name: Methemoglobinemia
def: "Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:131171006
xref: SNOMEDCT_US:38959009
xref: UMLS:C0025637
is_a: HP:0011902 ! Abnormal hemoglobin
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-09-16T05:42:35Z

[Term]
id: HP:0012120
name: Methylmalonic aciduria
def: "Increased concentration of methylmalonic acid in the urine." [https://orcid.org/0000-0002-0736-9199]
comment: Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism.
synonym: "High blood methylmalonic acid levels" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Methymalonicaciduria" EXACT []
xref: UMLS:C1855119
is_a: HP:0003215 ! Dicarboxylic aciduria
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-09-16T06:02:23Z

[Term]
id: HP:0012121
name: Panuveitis
def: "Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:75614007
xref: UMLS:C0030343
is_a: HP:0000554 ! Uveitis
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-09-16T06:23:34Z

[Term]
id: HP:0012122
name: Anterior uveitis
def: "Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:4927003
xref: UMLS:C0701807
is_a: HP:0000554 ! Uveitis
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-09-16T06:24:32Z

[Term]
id: HP:0012123
name: Posterior uveitis
def: "Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid." [https://orcid.org/0000-0002-0736-9199]
synonym: "Choroiditis" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:16553002
xref: SNOMEDCT_US:43363007
xref: UMLS:C0008526
xref: UMLS:C0042167
is_a: HP:0000554 ! Uveitis
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-09-16T06:25:06Z

[Term]
id: HP:0012124
name: Intermediate uveitis
def: "Inflammation of the uveal tract in which the primary site of inflammation is the vitreous." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:314429009
xref: UMLS:C0042166
is_a: HP:0000554 ! Uveitis
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-09-16T06:25:53Z

[Term]
id: HP:0012125
name: Prostate cancer
def: "A cancer of the prostate." [https://orcid.org/0000-0002-0736-9199]
synonym: "Prostatic cancer" EXACT []
xref: SNOMEDCT_US:399068003
xref: UMLS:C0376358
is_a: HP:0100787 ! Prostate neoplasm
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-09-16T06:33:32Z

[Term]
id: HP:0012126
name: Stomach cancer
def: "A cancer arising in any part of the stomach." [https://orcid.org/0000-0002-0736-9199]
synonym: "Gastric cancer" EXACT []
xref: SNOMEDCT_US:372143007
xref: UMLS:C0699791
is_a: HP:0006753 ! Neoplasm of the stomach
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-09-16T06:45:29Z

[Term]
id: HP:0012127
name: Uraciluria
def: "Increased concentration of uracil in the urine." [https://orcid.org/0000-0002-0736-9199]
synonym: "High urine uracil levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021833
is_a: HP:0033162 ! Abnormal urinary pyrimidine level
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-09-16T06:53:53Z

[Term]
id: HP:0012128
name: Basal ganglia necrosis
def: "Death of cells in the basal ganglia. This finding can be confirmed by autopsy. It can be suspected with hyperintensities within the basal ganglia on FLAIR and T2-sequences on magnetic resonance imaging." [https://orcid.org/0000-0002-0736-9199, PMID:33198265]
xref: UMLS:C4023035
is_a: HP:0002134 ! Abnormal basal ganglia morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2012-09-16T07:00:22Z

[Term]
id: HP:0012129
name: Abnormality of bone marrow stromal cells
xref: UMLS:C4023034
is_a: HP:0005561 ! Abnormal bone marrow cell morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-16T07:13:26Z

[Term]
id: HP:0012130
name: Abnormal erythroid lineage cell morphology
def: "An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes." [https://orcid.org/0000-0003-2945-4463]
comment: Proerythroblasts are the earliest recognizable erythroid precursors. They are followined during the process of hematopoiesis by basophilic erythroblasts, polychromatic (polychromatophilic) erythroblasts, orthochromatic erythroblasts (normoblasts), reticulocytes, and finally mature erythrocytes (red blood cells). This term encompasses structural anomalies of erythroblast precursors in the bone marrow.
synonym: "Abnormality of cells of the erythroid lineage" EXACT []
xref: UMLS:C4020862
is_a: HP:0005561 ! Abnormal bone marrow cell morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-16T07:14:03Z

[Term]
id: HP:0012131
name: Abnormal number of erythroid precursors
def: "A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow." [https://orcid.org/0000-0003-2945-4463]
xref: UMLS:C4023033
is_a: HP:0001877 ! Abnormal erythrocyte morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-16T07:17:18Z

[Term]
id: HP:0012132
name: Erythroid hyperplasia
def: "Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow." [https://orcid.org/0000-0003-2945-4463]
synonym: "Bone marrow biopsy shows erythroid hyperplasia" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Bone marrow smear shows erythroid hyperplasia" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C0014800
xref: UMLS:C1838111
xref: UMLS:C3552917
is_a: HP:0012131 ! Abnormal number of erythroid precursors
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-16T07:19:21Z

[Term]
id: HP:0012133
name: Erythroid hypoplasia
def: "Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow." [https://orcid.org/0000-0003-2945-4463]
synonym: "Erythroblastopenia" EXACT []
synonym: "Erythroid hypoplasia in the bone marrow" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:167923006
xref: SNOMEDCT_US:41614006
xref: UMLS:C0178416
xref: UMLS:C0542035
is_a: HP:0012131 ! Abnormal number of erythroid precursors
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-16T07:21:19Z

[Term]
id: HP:0012134
name: Dysplastic erythropoesis
xref: UMLS:C4023032
is_a: HP:0001877 ! Abnormal erythrocyte morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-16T08:01:11Z

[Term]
id: HP:0012135
name: Abnormal granulocytopoietic cell morphology
def: "An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell." [https://orcid.org/0000-0003-2945-4463]
synonym: "Abnormality of cells of the granulocytic lineage" EXACT []
xref: UMLS:C4023031
is_a: HP:0005561 ! Abnormal bone marrow cell morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-16T08:02:11Z

[Term]
id: HP:0012136
name: Dysplastic granulopoesis
xref: UMLS:C4023030
is_a: HP:0012135 ! Abnormal granulocytopoietic cell morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-16T08:05:13Z

[Term]
id: HP:0012137
name: Abnormal number of granulocyte precursors
xref: UMLS:C4023029
is_a: HP:0012135 ! Abnormal granulocytopoietic cell morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-16T08:09:13Z

[Term]
id: HP:0012138
name: Granulocytic hyperplasia
xref: UMLS:C4023028
is_a: HP:0012137 ! Abnormal number of granulocyte precursors
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-16T08:09:36Z

[Term]
id: HP:0012139
name: Granulocytic hypoplasia
def: "Decreased number of granulocyte precursors in the bone marrow." [https://orcid.org/0000-0003-2945-4463]
xref: SNOMEDCT_US:416627004
xref: UMLS:C1534864
is_a: HP:0012137 ! Abnormal number of granulocyte precursors
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-16T08:09:56Z

[Term]
id: HP:0012140
name: obsolete Abnormality of cells of the lymphoid lineage
is_obsolete: true
replaced_by: HP:0004332

[Term]
id: HP:0012142
name: Pancreatic squamous cell carcinoma
def: "A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium." [https://orcid.org/0000-0002-0736-9199, PMID:19079631]
synonym: "Squamous cell carcinoma of the pancreas" EXACT []
xref: UMLS:C2675993
is_a: HP:0002894 ! Neoplasm of the pancreas
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-16T08:55:24Z

[Term]
id: HP:0012143
name: Abnormal megakaryocyte morphology
def: "Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells." []
synonym: "Abnormality of cells of the megakaryocyte lineage" EXACT []
xref: UMLS:C4023026
is_a: HP:0005561 ! Abnormal bone marrow cell morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-16T08:20:38Z

[Term]
id: HP:0012144
name: Abnormal monocyte morphology
def: "Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []
xref: UMLS:C4023025
is_a: HP:0010974 ! Abnormal myeloid leukocyte morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-16T08:21:37Z

[Term]
id: HP:0012145
name: Abnormality of multiple cell lineages in the bone marrow
xref: UMLS:C4023024
is_a: HP:0005561 ! Abnormal bone marrow cell morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-16T08:21:57Z

[Term]
id: HP:0012146
name: Abnormality of von Willebrand factor
def: "Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces." [https://orcid.org/0000-0003-2945-4463]
xref: UMLS:C4023023
is_a: HP:0003256 ! Abnormality of the coagulation cascade
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-16T08:25:58Z

[Term]
id: HP:0012147
name: Reduced quantity of Von Willebrand factor
def: "Decreased quantity of von Willebrand factor." [https://orcid.org/0000-0003-2945-4463]
synonym: "Decreased von Willebrand factor" RELATED []
xref: UMLS:C1841816
xref: UMLS:C4023022
is_a: HP:0012146 ! Abnormality of von Willebrand factor
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-16T08:27:00Z

[Term]
id: HP:0012148
name: Multiple lineage myelodysplasia
def: "Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic." [https://orcid.org/0000-0003-2945-4463]
xref: UMLS:C4023021
is_a: HP:0002863 ! Myelodysplasia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-16T08:33:33Z

[Term]
id: HP:0012149
name: Bilineage myelodysplasia
def: "Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic." [https://orcid.org/0000-0003-2945-4463]
xref: UMLS:C4023020
is_a: HP:0002863 ! Myelodysplasia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-16T08:39:10Z

[Term]
id: HP:0012150
name: Single lineage myelodysplasia
def: "Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic)." [https://orcid.org/0000-0003-2945-4463]
xref: UMLS:C4023019
is_a: HP:0002863 ! Myelodysplasia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-16T08:39:39Z

[Term]
id: HP:0012151
name: Hemothorax
def: "The presence of blood in the pleural space." [https://orcid.org/0000-0002-0736-9199]
comment: Hemothorax may result from hemorrhage in the chest wall, lung parenchyma, heart, or great vessels.
xref: SNOMEDCT_US:31892009
xref: UMLS:C0019123
is_a: HP:0002103 ! Abnormal pleura morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-16T08:58:32Z

[Term]
id: HP:0012152
name: Foveoschisis
def: "Splitting of the retinal layers in the macula." [https://orcid.org/0000-0002-0736-9199]
synonym: "Retinoschisis involving the fovea" EXACT []
xref: UMLS:C2674407
is_a: HP:0000493 ! Abnormal foveal morphology
is_a: HP:0030502 ! Retinoschisis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-16T09:06:26Z

[Term]
id: HP:0012153
name: Hypotriglyceridemia
def: "An decrease in the level of triglycerides in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased circulating Tg levels" EXACT abbreviation []
synonym: "Decreased plasma Tg levels" EXACT abbreviation []
synonym: "Low blood triglyceride levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C0542037
is_a: HP:0045014 ! Hypolipidemia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-20T06:39:11Z

[Term]
id: HP:0012154
name: Anhedonia
def: "Decreased ability to experience or feel joy or pleasure from any experience that is usually found to be pleasurable by the individual. This applies to any of the senses, e.g., taste, smell, and sound. Food may no longer be tasty, or a musical experience may no longer be enjoyable. Anhedonia also refers to an inability to feel pleasure related to activities that an affected individual previously derived pleasure from." []
synonym: "Anhedonic" EXACT []
xref: SNOMEDCT_US:247796005
xref: SNOMEDCT_US:28669007
xref: UMLS:C0178417
is_a: HP:0031467 ! Abnormal negative emotional state
property_value: terms:contributor https://orcid.org/0000-0002-1111-7357
property_value: terms:contributor https://orcid.org/0000-0002-7954-5235
property_value: terms:contributor https://orcid.org/0000-0003-2897-0458
property_value: terms:contributor https://orcid.org/0000-0003-4298-5074
property_value: terms:contributor https://orcid.org/0000-0003-4618-6544
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2012-09-20T06:51:36Z

[Term]
id: HP:0012155
name: Decreased corneal sensation
def: "Reduced ability of the cornea to respond to stimulation." [https://orcid.org/0000-0002-0736-9199]
comment: Corneal sensitivity to touch can be assessed by an aesthesiometer, which measures the corneal touch threshold. Decreased corneal sensation is associated with a decreased corneal reflex (HP:0008000); however, impairment of the corneal reflex can have other causes such as trigeminal nerve compression or a cerebellopontine angle lesion. Well known causes of decreased corneal sensation include Herpes simplex keratitis, neuroparalytic keratitis, leprosy, acoustic neuroma, and absolute glaucoma.
synonym: "Corneal hypaesthesia" EXACT []
synonym: "Corneal hypesthesia" EXACT []
synonym: "Decreased corneal sensitivity" RELATED []
synonym: "Reduced corneal sensation" EXACT []
xref: SNOMEDCT_US:373433005
xref: UMLS:C0271292
xref: UMLS:C0859996
is_a: HP:0012373 ! Abnormal eye physiology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2013-01-04T08:36:10Z

[Term]
id: HP:0012156
name: Hemophagocytosis
def: "Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues." [https://orcid.org/0000-0002-0736-9199, PMID:25328776]
comment: Hemophagocytosis is a nonspecific phenotypic feature observed in several conditions including hemolytic anemia, malignant disease, infections, and hemophagocytic syndrome (also known as hemophagocytic lymphohistiocytosis, a rare hyperinflammatory syndrome caused by severe hypercytokinemia due to a highly stimulated but ineffective immune process).
xref: SNOMEDCT_US:61070002
xref: UMLS:C0876991
is_a: HP:0004311 ! Abnormal macrophage morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-01-07T10:11:21Z

[Term]
id: HP:0012157
name: Subcortical cerebral atrophy
def: "Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter." [https://orcid.org/0000-0002-0736-9199, PMID:20813998]
xref: UMLS:C4023018
is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-01-20T11:22:50Z

[Term]
id: HP:0012158
name: Carotid artery dissection
def: "A separation (dissection) of the layers of the carotid artery wall." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C0338585
is_a: HP:0005344 ! Abnormal carotid artery morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-16T07:19:57Z

[Term]
id: HP:0012159
name: Internal carotid artery dissection
def: "A separation (dissection) of the layers of the internal carotid artery wall." [https://orcid.org/0000-0002-0736-9199]
comment: The internal carotid begins at the bifurcation of the common carotid, opposite the upper border of the thyroid cartilage, and runs perpendicularly upward. It supplies the anterior part of the brain, the eye and its appendages, and sends branches to the forehead and nose. Interstitial hemorrhage into the media of the vessel wall can lead to occlusion of the internal carotid artery and aneurysm formation.
xref: SNOMEDCT_US:705066004
xref: UMLS:C0751815
is_a: HP:0012158 ! Carotid artery dissection
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-16T07:22:28Z

[Term]
id: HP:0012160
name: Intracranial internal carotid artery dissection
def: "A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023017
is_a: HP:0012159 ! Internal carotid artery dissection
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-16T07:31:51Z

[Term]
id: HP:0012161
name: External carotid artery dissection
def: "A separation (dissection) of the layers of the external carotid artery wall." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023016
is_a: HP:0012158 ! Carotid artery dissection
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-16T07:33:34Z

[Term]
id: HP:0012162
name: Common carotid artery dissection
def: "A separation (dissection) of the layers of the common carotid artery wall." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023015
is_a: HP:0012158 ! Carotid artery dissection
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-16T07:34:14Z

[Term]
id: HP:0012163
name: Carotid artery dilatation
def: "A dilatation (balooning or bulging out of the vessel wall) of a carotid artery." [https://orcid.org/0000-0002-0736-9199]
synonym: "Carotid artery aneurysm" NARROW []
xref: SNOMEDCT_US:233988005
xref: UMLS:C0340639
is_a: HP:0005344 ! Abnormal carotid artery morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-16T10:18:06Z

[Term]
id: HP:0012164
name: Asterixis
def: "A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints." [https://orcid.org/0000-0002-0736-9199]
comment: The examiner can test for asterixis by asking the patient to extend the arms, spread the fingers, dorsiflex the wrist and observe for the abnormal "flapping" tremor at the wrist. Asterixis represents the failure to actively maintain a position and is caused by the abnormal function of diencephalic motor centers that regulate the tone of the agonist and antagonist muscles involved in maintaining posture.
xref: SNOMEDCT_US:32838008
xref: UMLS:C0232766
is_a: HP:0100022 ! Abnormality of movement
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-16T10:20:08Z

[Term]
id: HP:0012165
name: Oligodactyly
def: "A developmental defect resulting in the presence of fewer than the normal number of digits." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C3887496
is_a: HP:0011297 ! Abnormal digit morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-16T10:44:40Z

[Term]
id: HP:0012166
name: Skin-picking
def: "Repetitive and compulsive picking of skin which results in tissue damage." [https://orcid.org/0000-0002-0736-9199, PMID:20575652]
synonym: "Compulsive skin picking" EXACT []
synonym: "Dermatillomania" EXACT []
xref: ICD-10:F63.3 "Trichotillomania"
xref: UMLS:C1696701
is_a: HP:0100716 ! Self-injurious behavior
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-20T07:12:33Z

[Term]
id: HP:0012167
name: Hair-pulling
def: "A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss." [https://orcid.org/0000-0002-0736-9199]
synonym: "Trichotillomania" EXACT []
xref: SNOMEDCT_US:17155009
xref: UMLS:C0040953
is_a: HP:0100716 ! Self-injurious behavior
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-20T07:16:10Z

[Term]
id: HP:0012168
name: Head-banging
def: "Habitual striking of one's own head against a surface such as a mattress or wall of a crib." []
xref: SNOMEDCT_US:43954004
xref: UMLS:C0018672
is_a: HP:0100716 ! Self-injurious behavior
is_a: HP:5200017 ! Stereotypic movements of face and head
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-0736-9199
property_value: terms:contributor https://orcid.org/0000-0002-4142-7153
property_value: terms:contributor https://orcid.org/0000-0002-4422-1708
property_value: terms:contributor https://orcid.org/0000-0003-3777-1389
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-20T09:33:57Z

[Term]
id: HP:0012169
name: Self-biting
def: "Habitual biting of one's own body." [https://orcid.org/0000-0002-0736-9199]
comment: Biting of one's own arms, lip, check, finger etc.
xref: SNOMEDCT_US:248072009
xref: UMLS:C0424375
is_a: HP:0100716 ! Self-injurious behavior
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-20T09:36:42Z

[Term]
id: HP:0012170
name: Nail-biting
def: "Habitual biting of one's own fingernails." []
synonym: "Nail-biting" EXACT layperson []
synonym: "Onychophagia" EXACT []
synonym: "Onychophagy" EXACT []
xref: ICD-10:F98.8
xref: SNOMEDCT_US:37298006
xref: UMLS:C0027338
is_a: HP:0000722 ! Compulsive behaviors
is_a: HP:0012169 ! Self-biting
property_value: terms:contributor https://orcid.org/0000-0001-6624-2975
property_value: terms:contributor https://orcid.org/0000-0002-2984-1124
property_value: terms:contributor https://orcid.org/0000-0002-4691-7362
property_value: terms:contributor https://orcid.org/0000-0002-6581-7754
property_value: terms:contributor https://orcid.org/0000-0002-7674-1767
property_value: terms:contributor https://orcid.org/0000-0003-2598-6622
property_value: terms:contributor https://orcid.org/0000-0003-4014-4490
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-20T09:40:31Z

[Term]
id: HP:0012171
name: Stereotypical hand wringing
def: "Habitual clasping and wringing of the hands in the middle of the body, similar to a hand-washing movement." [PMID:28838622]
synonym: "Hand clasping" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Hand-wringing" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
synonym: "Handwringing" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
xref: UMLS:C4023014
is_a: HP:5200009 ! Midline hand movements
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-0736-9199
property_value: terms:contributor https://orcid.org/0000-0002-4142-7153
property_value: terms:contributor https://orcid.org/0000-0002-4422-1708
property_value: terms:contributor https://orcid.org/0000-0003-3777-1389
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-20T09:44:45Z

[Term]
id: HP:0012172
name: Stereotypical body rocking
def: "Habitual repetitive movement of the entire body, front to back or side to side." []
xref: UMLS:C4023013
is_a: HP:5200019 ! Stereotypic whole-body movements
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-0736-9199
property_value: terms:contributor https://orcid.org/0000-0002-4142-7153
property_value: terms:contributor https://orcid.org/0000-0002-4422-1708
property_value: terms:contributor https://orcid.org/0000-0003-3777-1389
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-20T10:17:35Z

[Term]
id: HP:0012173
name: Orthostatic tachycardia
def: "An increase in heart rate with standing of 30 beats per minute or more." [https://orcid.org/0000-0002-0736-9199, PMID:9244228]
synonym: "Postural tachycardia" EXACT []
xref: UMLS:C4021099
is_a: HP:0012332 ! Abnormal autonomic nervous system physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-23T09:42:20Z

[Term]
id: HP:0012174
name: Glioblastoma multiforme
alt_id: HP:0100843
def: "A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation." [https://orcid.org/0000-0002-0736-9199, NCIT:C3058, PMID:10841526]
synonym: "Glioblastoma" EXACT []
xref: SNOMEDCT_US:393563007
xref: SNOMEDCT_US:63634009
xref: UMLS:C1621958
is_a: HP:0009733 ! Glioma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-23T09:47:02Z

[Term]
id: HP:0012175
name: Resistance to activated protein C
def: "Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay." [https://orcid.org/0000-0002-0736-9199, PMID:14976057]
comment: The protein C pathway is a major anticoagulant mechanism that down-regulates the prothrombin- and intrinsic factor X (FX)-activating complexes via inactivation of their respective cofactors, activated factors V (FVa) and VIII (FVIIIa). Cofactor inactivation occurs by limited proteolysis at certain amino acid positions in FVa and in FVIIIa. These reactions are catalyzed by the serine protease activated protein C (APC) and stimulated by the APC cofactor protein S. Functional defects of the protein C pathway determine a plasma phenotype known as APC resistance, which is a prevalent and important risk factor for venous thrombosis. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time (aPTT) assay.
synonym: "Activated protein C resistance" EXACT []
xref: SNOMEDCT_US:421527008
xref: UMLS:C0600433
is_a: HP:0030780 ! Abnormality of the protein C anticoagulant pathway
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-23T09:54:07Z

[Term]
id: HP:0012176
name: Abnormal natural killer cell morphology
def: "An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells." [https://orcid.org/0000-0002-0736-9199, PMID:21212348]
synonym: "Abnormal NK cells" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Abnormality of natural killer cells" EXACT []
xref: UMLS:C4021098
is_a: HP:0004332 ! Abnormal lymphocyte morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-23T10:02:16Z

[Term]
id: HP:0012177
name: Abnormal natural killer cell physiology
alt_id: HP:0012178
def: "Abnormal response of natural killer (NK) cells to stimuli." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal NK cell physiology" EXACT abbreviation []
synonym: "Reduced natural killer cell activity" EXACT []
xref: UMLS:C4023012
is_a: HP:0031409 ! Abnormal lymphocyte physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-23T10:03:37Z

[Term]
id: HP:0012178
name: obsolete Reduced natural killer cell activity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
is_obsolete: true
replaced_by: HP:0012177
creation_date: 2013-02-23T10:05:33Z

[Term]
id: HP:0012179
name: Craniofacial dystonia
def: "A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal craniofacial muscle tone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormal craniofacial posture" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormal facial muscle tone" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Distorted craniofacial posture" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Facial Dystonia" NARROW [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1851915
xref: UMLS:C4023011
xref: UMLS:C4072883
is_a: HP:0004373 ! Focal dystonia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-23T10:10:32Z

[Term]
id: HP:0012180
name: Cystic medial necrosis
alt_id: HP:0200145
def: "A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells." [https://orcid.org/0000-0002-0736-9199]
comment: The lesions of cystic medial necrosis are not true cysts.
synonym: "Arterial cystic medial necrosis" EXACT []
xref: SNOMEDCT_US:234021009
xref: SNOMEDCT_US:42182000
xref: SNOMEDCT_US:45894003
xref: UMLS:C0392775
is_a: HP:0011004 ! Abnormal systemic arterial morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-23T10:17:16Z

[Term]
id: HP:0012181
name: Entrapment neuropathy
def: "Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss." [https://orcid.org/0000-0002-0736-9199]
comment: An entrapment neuropathy is an isolated peripheral nerve injury due to mechanical constriction in a fibrous or fibro-osseous tunnel or to deformation of the nerve by a fibrous band.
xref: SNOMEDCT_US:45781009
xref: UMLS:C1510429
is_a: HP:0009830 ! Peripheral neuropathy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-23T10:20:59Z

[Term]
id: HP:0012182
name: Oropharyngeal squamous cell carcinoma
def: "A squamous cell carcinoma that originates in the oropharnyx." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:423464009
xref: SNOMEDCT_US:707585008
xref: UMLS:C0280313
is_a: HP:0002860 ! Squamous cell carcinoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-23T10:28:31Z

[Term]
id: HP:0012183
name: Hyperplastic colonic polyposis
def: "Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023010
is_a: HP:0030255 ! Large intestinal polyposis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-24T09:08:55Z

[Term]
id: HP:0012184
name: Increased HDL cholesterol concentration
def: "An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood." [https://orcid.org/0000-0002-0736-9199]
comment: The major apolipoproteins of HDL are apolipoprotein (apo) A-I and apo A-II, also known as the alpha lipoproteins. Thus, hyperalphalipoproteinemia refers to an elevated concentration of apo A-I and apo A-II.
synonym: "High blood HDL level" EXACT layperson []
synonym: "Hyperalphalipoproteinemia" EXACT []
synonym: "Increased circulating high-density lipoprotein levels" EXACT []
xref: SNOMEDCT_US:238080004
xref: UMLS:C0342883
is_a: HP:0010980 ! Hyperlipoproteinemia
is_a: HP:0031888 ! Abnormal HDL cholesterol concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-24T09:14:45Z

[Term]
id: HP:0012185
name: Constrictive median neuropathy
def: "Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand." [https://orcid.org/0000-0002-0736-9199]
comment: Constrictive median neuropathy is the major clinical feature of carpal tunnel syndrome.
synonym: "Carpal tunnel syndrome" RELATED []
xref: UMLS:C4023009
is_a: HP:0012181 ! Entrapment neuropathy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-24T09:24:32Z

[Term]
id: HP:0012186
name: Entrapment neuropathy of the ulnar nerve at elbow
def: "An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cubital tunnel syndrome" EXACT []
xref: UMLS:C4023008
is_a: HP:0012181 ! Entrapment neuropathy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-24T09:27:57Z

[Term]
id: HP:0012187
name: Increased erythrocyte protoporphyrin concentration
def: "Concentration of protoporphyrins in erythrocytes above the upper limit of normal." [https://orcid.org/0000-0002-0736-9199, PMID:18760763]
xref: UMLS:C4023007
is_a: HP:0034606 ! Elevated circulating porphyrin concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-24T09:49:59Z

[Term]
id: HP:0012188
name: Hyperemesis gravidarum
def: "Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight." [https://orcid.org/0000-0002-0736-9199, OMIM:603373]
xref: SNOMEDCT_US:14094001
xref: UMLS:C0020450
is_a: HP:0002686 ! Pregnancy history
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-24T09:58:18Z

[Term]
id: HP:0012189
name: Hodgkin lymphoma
def: "A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hodgkin disease" EXACT []
synonym: "Hodgkin's lymphoma" EXACT []
xref: SNOMEDCT_US:118599009
xref: SNOMEDCT_US:118602004
xref: SNOMEDCT_US:118605002
xref: SNOMEDCT_US:118606001
xref: SNOMEDCT_US:14537002
xref: SNOMEDCT_US:46923007
xref: SNOMEDCT_US:70600005
xref: SNOMEDCT_US:74189002
xref: UMLS:C0019829
is_a: HP:0002665 ! Lymphoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-27T06:53:11Z

[Term]
id: HP:0012190
name: T-cell lymphoma
def: "A type of lymphoma that originates in T-cells." [https://orcid.org/0000-0002-0736-9199]
synonym: "T cell lymphoma" EXACT []
xref: SNOMEDCT_US:109978004
xref: SNOMEDCT_US:3172003
xref: UMLS:C0079772
is_a: HP:0012539 ! Non-Hodgkin lymphoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-27T06:56:11Z

[Term]
id: HP:0012191
name: B-cell lymphoma
def: "A type of lymphoma that originates in B-cells." [https://orcid.org/0000-0002-0736-9199]
synonym: "B cell lymphoma" EXACT []
xref: SNOMEDCT_US:109979007
xref: SNOMEDCT_US:1929004
xref: SNOMEDCT_US:413616009
xref: UMLS:C0079731
is_a: HP:0012539 ! Non-Hodgkin lymphoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-27T06:59:05Z

[Term]
id: HP:0012192
name: Cutaneous T-cell lymphoma
def: "A type of T-cell lymphoma that exhibits malignant infiltration of the skin." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:28054005
xref: SNOMEDCT_US:400122007
xref: UMLS:C0079773
is_a: HP:0012190 ! T-cell lymphoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-27T07:03:19Z

[Term]
id: HP:0012193
name: Anaplastic large-cell lymphoma
def: "A type of T-cell lymphoma that is characterized by so-called hallmark cells with a pleomorphic appearance that express the CD30 antigen, are lobulated, and have indented nuclei." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:277637000
xref: SNOMEDCT_US:53237008
xref: UMLS:C0206180
is_a: HP:0012190 ! T-cell lymphoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-27T07:15:32Z

[Term]
id: HP:0012194
name: Episodic hemiplegia
def: "Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1863061
is_a: HP:0002301 ! Hemiplegia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-02-27T07:26:26Z

[Term]
id: HP:0012195
name: Irregular respiration
def: "Uneven rhythm of breathing." [https://orcid.org/0000-0002-0736-9199]
synonym: "Irregular respiratory rhythm" EXACT []
xref: SNOMEDCT_US:248585001
xref: UMLS:C0425492
is_a: HP:0002793 ! Abnormal pattern of respiration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-11T05:10:57Z

[Term]
id: HP:0012196
name: Cheyne-Stokes respiration
def: "An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cheyne-Stokes breathing" EXACT []
synonym: "Periodic respiration" EXACT []
xref: SNOMEDCT_US:271824009
xref: SNOMEDCT_US:309155007
xref: UMLS:C0008039
xref: UMLS:C1313952
is_a: HP:0002793 ! Abnormal pattern of respiration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-11T07:00:56Z

[Term]
id: HP:0012197
name: Insulinoma
def: "A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia." [https://orcid.org/0000-0002-0736-9199, NCIT:C95598]
synonym: "Pancreatic insulinoma" EXACT []
xref: SNOMEDCT_US:25324008
xref: SNOMEDCT_US:302822000
xref: UMLS:C0021670
is_a: HP:0008261 ! Pancreatic islet cell adenoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-11T07:06:29Z

[Term]
id: HP:0012198
name: Juvenile colonic polyposis
def: "The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands." [https://orcid.org/0000-0002-0736-9199, PMID:17768394, PMID:25022750]
comment: A juvenile polyp is a hamartomatous growth that projects from the lining of the intestine. It does not arise from the colonocytes themselves but from the tissues underneath the lining cells.
xref: UMLS:C4023006
is_a: HP:0004390 ! Hamartomatous polyposis
is_a: HP:0030255 ! Large intestinal polyposis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-11T07:09:42Z

[Term]
id: HP:0012199
name: Cluster headache
def: "A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs." [https://orcid.org/0000-0002-0736-9199, PMID:21912573]
comment: According to the International Classification of Headache Disorders (ICHD-II), the diagnosis of cluster headache can be made with at least five attacks fulfilling criteria B-D: (B) Severe or very severe unilateral orbital, supraorbital and/or temporal pain lasting 15-180 minutes if untreated. (C) Headache is accompanied by at least 1 of the following: (i) Ipsilateral conjunctival injection and/or lacrimation. (ii) Ipsilateral nasal congestion and/or rhinorrhea. (iii) Ipsilateral eyelid edema. (iv) Ipsilateral forehead and facial sweating. (v) Ipsilateral miosis and/or ptosis. (vi) A sense of restlessness or agitation. (D) Attacks have a frequency from 1 every other day to 8/day. Additionally, the headaches cannot attributed to another disorder.
xref: ICD-10:G44.0 "Cluster headache syndrome"
xref: SNOMEDCT_US:193031009
xref: SNOMEDCT_US:193947008
xref: SNOMEDCT_US:230473009
xref: UMLS:C0009088
is_a: HP:0002315 ! Headache
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-12T11:37:40Z

[Term]
id: HP:0012200
name: Abnormality of prothrombin
def: "An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023005
is_a: HP:0003256 ! Abnormality of the coagulation cascade
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-12T11:48:06Z

[Term]
id: HP:0012201
name: obsolete Reduced prothrombin activity
is_obsolete: true
replaced_by: HP:0008151

[Term]
id: HP:0012202
name: Increased serum bile acid concentration
def: "An increase in the concentration of bile acid in the blood." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023004
is_a: HP:0030984 ! Abnormal serum bile acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-12T11:56:40Z

[Term]
id: HP:0012203
name: Onychomycosis
def: "A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:414941008
xref: UMLS:C0040261
is_a: HP:0002841 ! Recurrent fungal infections
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-12T12:08:30Z

[Term]
id: HP:0012204
name: Recurrent vulvovaginal candidiasis
def: "Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4023003
is_a: HP:0002728 ! Chronic mucocutaneous candidiasis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-12T12:09:45Z

[Term]
id: HP:0012205
name: Globozoospermia
def: "Any structural anomaly of the acrosome resulting in a round sperm head." [https://orcid.org/0000-0002-0736-9199, MP:0002686]
xref: SNOMEDCT_US:236818008
xref: UMLS:C0403825
is_a: HP:0012865 ! Abnormal sperm head morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-12T12:21:08Z

[Term]
id: HP:0012206
name: Abnormal sperm motility
def: "An anomaly of the mobility of ejaculated sperm." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal sperm motility" EXACT layperson []
xref: UMLS:C0855512
is_a: HP:0034809 ! Abnormal sperm physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-12T12:23:21Z

[Term]
id: HP:0012207
name: Reduced sperm motility
def: "An abnormal reduction in the mobility of ejaculated sperm." [https://orcid.org/0000-0002-0736-9199]
synonym: "Asthenospermia" EXACT []
synonym: "Asthenozoospermia" EXACT []
synonym: "Reduced sperm motility" EXACT layperson []
xref: UMLS:C4023002
is_a: HP:0012206 ! Abnormal sperm motility
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-12T12:23:59Z

[Term]
id: HP:0012208
name: Immotile sperm
def: "A lack of mobility of ejaculated sperm." [https://orcid.org/0000-0002-0736-9199]
synonym: "Nonmotile sperm" EXACT []
xref: UMLS:C4023001
is_a: HP:0012207 ! Reduced sperm motility
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-12T12:24:28Z

[Term]
id: HP:0012209
name: Juvenile myelomonocytic leukemia
def: "Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor." [https://orcid.org/0000-0002-0736-9199, PMID:18954903]
synonym: "Juvenile myelomonocytic leukaemia" EXACT uk_spelling []
xref: SNOMEDCT_US:128832006
xref: SNOMEDCT_US:277587001
xref: SNOMEDCT_US:445227008
xref: UMLS:C0349639
is_a: HP:0012324 ! Myeloid leukemia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-12T12:27:41Z

[Term]
id: HP:0012210
name: Abnormal renal morphology
alt_id: HP:0000792
alt_id: HP:0004726
alt_id: HP:0004735
alt_id: HP:0008712
def: "Any structural anomaly of the kidney." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal kidney morphology" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormally shaped kidney" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Kidney malformation" EXACT layperson []
synonym: "Kidney structure issue" EXACT layperson []
synonym: "Renal malformation" EXACT []
synonym: "Structural anomalies of the renal tract" EXACT []
synonym: "Structural kidney abnormalities" EXACT layperson []
synonym: "Structural renal anomalies" EXACT []
xref: Fyler:4512
xref: SNOMEDCT_US:44513007
xref: UMLS:C0266292
is_a: HP:0000077 ! Abnormality of the kidney
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-14T07:41:11Z

[Term]
id: HP:0012211
name: Abnormal renal physiology
alt_id: HP:0000082
alt_id: HP:0000087
alt_id: HP:0005566
alt_id: HP:0008646
def: "An abnormal functionality of the kidney." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal kidney function" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormal renal function" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Abnormality of renal physiology" EXACT []
synonym: "Kidney function issue" EXACT layperson []
synonym: "Renal functional abnormality" EXACT []
xref: SNOMEDCT_US:39539005
xref: UMLS:C0151746
is_a: HP:0000077 ! Abnormality of the kidney
is_a: HP:0011277 ! Abnormality of the urinary system physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-14T07:43:34Z

[Term]
id: HP:0012212
name: Abnormal glomerular filtration rate
def: "An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time." [https://orcid.org/0000-0002-0736-9199, PMID:25710660]
comment: Glomerular filtration, the first step in urine formation, is the passive process of ultrafiltration of plasma from blood into Bowman's space as it traverses the glomerular capillaries. Because GFR varies by body size, it is indexed relative to an average body surface area (BSA) of 1.73 m2 and expressed as ml/min/per 1.73 m2. GFR cannot be measured directly; it can be assessed from clearance measurements or estimated from serum levels of endogenous filtration markers, such as creatinine or cystatin C. Clearance measurements require either multiple measurements of serum concentrations or timed urine collections and are not routinely performed. GFR is usually estimated from serum concentrations of a marker of filtration using GFR estimating equations.
synonym: "Abnormal GFR" EXACT abbreviation []
xref: UMLS:C0854050
is_a: HP:0012211 ! Abnormal renal physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-14T07:49:53Z

[Term]
id: HP:0012213
name: Decreased glomerular filtration rate
alt_id: HP:0000120
def: "An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time." [https://orcid.org/0000-0002-0736-9199, PMID:25710660]
comment: Renal clearance is defined as the volume of plasma per minute needed to excrete the quantity of a solute appearing in the urine in a minute. Normal values for adults are 97 to 137 ml/min (male) and 88 to 128 ml/min (female). This term refers to a reduction below normal limits in the ability of the kidney to clear creatinine from the bloodstream.
synonym: "Decreased GFR" EXACT abbreviation []
synonym: "Impaired renal creatinine clearance" EXACT []
synonym: "Reduced creatinine clearance" EXACT []
xref: UMLS:C0853068
is_a: HP:0012212 ! Abnormal glomerular filtration rate
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-14T07:54:30Z

[Term]
id: HP:0012214
name: Increased glomerular filtration rate
def: "An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased GFR" EXACT abbreviation []
xref: UMLS:C0856948
is_a: HP:0012212 ! Abnormal glomerular filtration rate
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-14T07:55:03Z

[Term]
id: HP:0012215
name: Testicular microlithiasis
def: "The deposition of calcium phosphate microliths within the seminiferous tubules." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:117261000119108
xref: UMLS:C1864873
is_a: HP:0000035 ! Abnormal testis morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-14T08:07:36Z

[Term]
id: HP:0012216
name: Entrapment neuropathy of suprascapular nerve
def: "An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region." [https://orcid.org/0000-0002-0736-9199]
synonym: "Suprascapular nerve entrapment" EXACT []
xref: SNOMEDCT_US:230635000
xref: UMLS:C0393890
is_a: HP:0012181 ! Entrapment neuropathy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-14T08:09:05Z

[Term]
id: HP:0012217
name: Increased urinary porphobilinogen
def: "The concentration of porphobilinogen in the urine, normalized for urine concentration, is above the upper limit of normal." [https://orcid.org/0000-0002-0736-9199, PMID:11861450]
comment: Increased porphobilinogen (PBG) in urine is pathognomonic of an attack of acute porphyria (acute intermittent porphyria, variegate porphyria, hereditary coproporphyria); the absence of increased urinary PBG in a suspected attack excludes the diagnosis.
xref: UMLS:C4023000
is_a: HP:0003215 ! Dicarboxylic aciduria
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-30T06:45:01Z

[Term]
id: HP:0012218
name: Alveolar soft part sarcoma
def: "A type of soft tissue sarcoma with a histological appearance reminiscent of alveoli because of its reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue." [https://orcid.org/0000-0002-0736-9199, PMID:11244503]
xref: SNOMEDCT_US:404056007
xref: SNOMEDCT_US:88195001
xref: UMLS:C0206657
is_a: HP:0030448 ! Soft tissue sarcoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-30T06:48:50Z

[Term]
id: HP:0012219
name: Erythema nodosum
def: "An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral." [https://orcid.org/0000-0002-0736-9199]
comment: The nodules of erythema nodosum are located predominantly on the shins with less common occurrence on the thighs and forearms. They undergo characteristic color changes ending in temporary bruise-like areas, and usually subside in 3-6 weeks without scarring or atrophy.
xref: SNOMEDCT_US:32861005
xref: UMLS:C0014743
is_a: HP:0011123 ! Inflammatory abnormality of the skin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-30T06:57:07Z

[Term]
id: HP:0012220
name: Non-caseating epithelioid cell granulomatosis
def: "The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese)." [https://orcid.org/0000-0002-0736-9199]
comment: This feature is a hallmark of sarcoidosis.
xref: UMLS:C4022999
is_a: HP:0002955 ! Granulomatosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-30T07:04:43Z

[Term]
id: HP:0012221
name: Pretibial blistering
def: "A type of blistering that affects the skin of the tibial region." [https://orcid.org/0000-0002-0736-9199, PMID:15265795]
synonym: "Pretibial epidermolysis bullosa" EXACT []
xref: SNOMEDCT_US:67653003
xref: UMLS:C0432321
is_a: HP:0033800 ! Blistering by anatomical location
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-30T07:10:17Z

[Term]
id: HP:0012222
name: Arachnoid hemangiomatosis
def: "The presence of multiple hemangiomas in the arachnoid." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022998
is_a: HP:0001028 ! Hemangioma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-30T07:17:01Z

[Term]
id: HP:0012223
name: Splenic rupture
def: "A breach of the capsule of the spleen." [https://orcid.org/0000-0002-0736-9199]
synonym: "Ruptured spleen" EXACT layperson []
synonym: "Splenic rupture" EXACT layperson []
xref: SNOMEDCT_US:234506007
xref: UMLS:C0038000
is_a: HP:0025408 ! Abnormal spleen morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-30T07:23:49Z

[Term]
id: HP:0012224
name: Circulating immune complexes
def: "Persistence of immune complexes in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
comment: Immune complexes are formed of interlocking antigens and antibodies and are normally are rapidly removed from the bloodstream by macrophages in the spleen and Kupffer cells in the liver. If they persist abnormally in the circulation, they may become trapped in various tissues and induce inflammatory reactions.
xref: UMLS:C3887628
is_a: HP:0005368 ! Abnormality of humoral immunity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-30T07:27:21Z

[Term]
id: HP:0012225
name: Oligodontia of primary teeth
def: "Reduced number of primary teeth." [https://orcid.org/0000-0002-0736-9199]
comment: Primary teeth are also called temporary teeth or deciduous teeth.
synonym: "Decreased number of baby teeth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased number of deciduous teeth" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased number of milk teeth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased number of primary teeth" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of some deciduous teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of some primary teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Fewer baby teeth than normal" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Fewer deciduous teeth than normal" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Fewer primary teeth than normal" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing some baby teeth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing some milk teeth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing some primary teeth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Partial anodontia of deciduous teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Partial anodontia of primary teeth" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4022997
xref: UMLS:C4280316
is_a: HP:0000677 ! Oligodontia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-30T07:31:16Z

[Term]
id: HP:0012226
name: Ovarian teratoma
def: "The presence of a teratoma in the ovary." [https://orcid.org/0000-0002-0736-9199]
xref: NCIT:C3403
xref: SNOMEDCT_US:716077006
xref: UMLS:C0280131
is_a: HP:0009792 ! Teratoma
is_a: HP:0100615 ! Ovarian neoplasm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-30T07:34:29Z

[Term]
id: HP:0012227
name: Urethral stricture
def: "Narrowing of the urethra associated with inflammation or scar tissue." [https://orcid.org/0000-0002-0736-9199, PMID:24346008]
comment: A urethral stricture may result from surgery, disease, or injury. The term should not be used for a congenital narrowing of the urethra (Consider the term Urethral stenosis, HP:0008661). All strictures result from injury to the epithelium of the urethra or underlying corpus spongiosum, which ultimately causes fibrosis during the healing process. The pathological changes associated with strictures show that the normal pseudostratified columnar epithelium is replaced with squamous metaplasia. Small tears in this metaplastic tissue result in urinary extravasation, which causes a fibrotic reaction within the spongiosum. At the time of injury, this fibrosis can be asymptomatic; however, over time, the fibrotic process can cause further narrowing of the lumen of the urethra, resulting in symptomatic obstructive voiding.
xref: SNOMEDCT_US:236647003
xref: SNOMEDCT_US:76618002
xref: UMLS:C0041974
is_a: HP:0008661 ! Urethral stenosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-30T07:37:46Z

[Term]
id: HP:0012228
name: Tension-type headache
def: "A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Tension-type headache" EXACT layperson []
xref: ICD-10:G44.2 "Tension-type headache"
xref: SNOMEDCT_US:398057008
xref: SNOMEDCT_US:66551002
xref: UMLS:C0033893
is_a: HP:0002315 ! Headache
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-30T07:50:13Z

[Term]
id: HP:0012229
name: CSF pleocytosis
def: "An increased white blood cell count in the cerebrospinal fluid." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cerebrospinal fluid pleocytosis" EXACT []
synonym: "Increased leukocyte count in CSF" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:91454002
xref: UMLS:C0151857
is_a: HP:0002921 ! Abnormal cerebrospinal fluid morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-31T09:01:55Z

[Term]
id: HP:0012230
name: Rhegmatogenous retinal detachment
def: "A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:19620000
xref: UMLS:C0271055
is_a: HP:0000541 ! Retinal detachment
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-31T09:20:35Z

[Term]
id: HP:0012231
name: Exudative retinal detachment
def: "A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123]
synonym: "Serous retinal detachment" EXACT []
xref: SNOMEDCT_US:38599001
xref: UMLS:C0154822
is_a: HP:0000541 ! Retinal detachment
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-31T09:24:20Z

[Term]
id: HP:0012232
name: Shortened QT interval
def: "Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG)." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:77867006
xref: UMLS:C0151879
is_a: HP:0031547 ! Abnormal QT interval
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-31T09:34:21Z

[Term]
id: HP:0012233
name: Intramuscular hematoma
def: "Blood clot formed within muscle tissue following leakage of blood into the tissue." [https://orcid.org/0000-0002-0736-9199]
synonym: "IM hematoma" EXACT abbreviation []
synonym: "Intramuscular haematoma" EXACT []
synonym: "Intramuscular hematomas" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:262969000
xref: UMLS:C0240412
is_a: HP:0011805 ! Abnormal skeletal muscle morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-31T09:38:57Z

[Term]
id: HP:0012234
name: Absence of circulating granulocytes
def: "Absence of detectable circulating granulocytes in the blood. Usually a value of less than 50 cells per microliter is considered to be an absence." [https://orcid.org/0000-0002-0736-9199]
comment: Agranulocytosis is defined as an absolute neutrophil count less than 500 cells/microliter.
synonym: "Agranulocytosis" EXACT []
xref: UMLS:C0702094
is_a: HP:0001913 ! Decreased total granulocyte count
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-31T09:42:50Z

[Term]
id: HP:0012235
name: Drug-induced agranulocytosis
def: "Absence of detectable circulating granulocytes in the blood caused by an exposure to a drug. Usually a value of less than 50 granulocytes per microliter is considered to be an absence." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:47318007
xref: UMLS:C0272178
is_a: HP:0012234 ! Absence of circulating granulocytes
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-31T09:44:55Z

[Term]
id: HP:0012236
name: Elevated sweat chloride
def: "An increased concentration of chloride in the sweat." [https://orcid.org/0000-0002-0736-9199]
comment: Sweat chloride is notably increased in cystic fibrosis, but also in some other diseases.
synonym: "Elevated sweat chloride" EXACT layperson []
synonym: "Elevated sweat Cl" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961]
synonym: "Elevated sweat Cl-" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961]
xref: UMLS:C1856646
is_a: HP:0040127 ! Abnormal sweat homeostasis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-31T09:50:28Z

[Term]
id: HP:0012237
name: Urocanic aciduria
def: "An increased concentration of urocanic acid in the urine." [https://orcid.org/0000-0002-0736-9199]
synonym: "High urine urocanic acid levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:60952007
xref: UMLS:C0268514
is_a: HP:0040156 ! Elevated urinary carboxylic acid
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-31T09:54:48Z

[Term]
id: HP:0012238
name: Increased circulating chylomicron concentration
def: "Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins." [https://orcid.org/0000-0002-0736-9199, MP:0009699]
synonym: "Hyperchylomicronemia" EXACT []
synonym: "Increased chylomicrons" EXACT []
synonym: "Increased circulating chylomicron levels" EXACT []
xref: UMLS:C1535978
is_a: HP:0010980 ! Hyperlipoproteinemia
is_a: HP:0031887 ! Abnormal chylomicron concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-31T04:17:11Z

[Term]
id: HP:0012239
name: Atransferrinemia
def: "Absence of transferrin, a protein that transports iron, in the blood." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:111571009
xref: UMLS:C0521802
is_a: HP:0032385 ! Abnormal circulating transferrin concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-03-31T04:20:43Z

[Term]
id: HP:0012240
name: Increased intramyocellular lipid droplets
def: "An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images." [https://orcid.org/0000-0002-0736-9199, PMID:20691590]
comment: In normal muscle cells, lipid content takes the aspect of small droplets which concentration and size are usually higher in type 1 fibers than in type 2 fibers.
synonym: "Increased muscle lipid droplets" RELATED []
xref: UMLS:C4020730
is_a: HP:0009058 ! Increased muscle lipid content
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-01T05:17:37Z

[Term]
id: HP:0012241
name: Levator palpebrae superioris atrophy
def: "Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1851107
is_a: HP:3000072 ! Abnormal levator palpebrae superioris morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-02T06:53:20Z

[Term]
id: HP:0012242
name: Superior rectus atrophy
def: "Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Rectus superior atrophy" EXACT []
xref: UMLS:C1851108
is_a: HP:0008049 ! Abnormality of the extraocular muscles
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-02T06:55:22Z

[Term]
id: HP:0012243
name: Abnormal reproductive system morphology
def: "A structural or developmental anomaly of any of the tissues involved in the genital system." [https://orcid.org/0000-0002-0736-9199, MP:0002160]
synonym: "Abnormal genital system morphology" EXACT []
xref: UMLS:C4021096
is_a: HP:0000078 ! Abnormality of the genital system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-02T07:02:20Z

[Term]
id: HP:0012244
name: Abnormal sex determination
def: "Anomaly of primary or secondary sexual development or characteristics." [https://orcid.org/0000-0002-0736-9199, MP:0002210]
xref: UMLS:C4022996
is_a: HP:0012243 ! Abnormal reproductive system morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-02T07:03:45Z

[Term]
id: HP:0012245
name: Sex reversal
def: "Development of the reproductive system is inconsistent with the chromosomal sex." [https://orcid.org/0000-0002-0736-9199, MP:0005652]
comment: Sex reversal is present if an XX individual develops phenotypically as a male or if an XY individual develops as a female.
xref: UMLS:C4022995
is_a: HP:0012244 ! Abnormal sex determination
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-02T07:04:44Z

[Term]
id: HP:0012246
name: Oculomotor nerve palsy
def: "Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Oculomotor neuropathy" RELATED []
xref: SNOMEDCT_US:388980004
xref: UMLS:C0028866
is_a: HP:0000597 ! Ophthalmoparesis
is_a: HP:0006824 ! Cranial nerve paralysis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-02T07:15:18Z

[Term]
id: HP:0012247
name: Specific anosmia
def: "Anosmia for one particular odor." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022994
is_a: HP:0000458 ! Anosmia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-02T07:20:11Z

[Term]
id: HP:0012248
name: Prolonged PR interval
def: "Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex)." [https://orcid.org/0000-0002-0736-9199, PMID:23677846]
comment: In adults, normal values are 120 to 200 ms long.
synonym: "Electrocardiographic long PR interval" EXACT []
synonym: "Lengthened PR interval on EKG" EXACT []
xref: SNOMEDCT_US:164947007
xref: UMLS:C0600125
is_a: HP:0031593 ! Abnormal PR interval
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T08:52:29Z

[Term]
id: HP:0012249
name: Abnormal ST segment
def: "An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022993
is_a: HP:0003115 ! Abnormal EKG
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T08:56:46Z

[Term]
id: HP:0012250
name: ST segment depression
def: "An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:26141007
xref: SNOMEDCT_US:429622005
xref: UMLS:C0520887
is_a: HP:0012249 ! Abnormal ST segment
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T08:59:59Z

[Term]
id: HP:0012251
name: ST segment elevation
def: "An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line." [https://orcid.org/0000-0002-0736-9199]
comment: ST segment elevation may have multiple causes including myocardial infaction, left ventricular aneurysm, and hyperkalemia.
xref: SNOMEDCT_US:164931005
xref: SNOMEDCT_US:76388001
xref: UMLS:C0520886
is_a: HP:0012249 ! Abnormal ST segment
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T09:03:06Z

[Term]
id: HP:0012252
name: Abnormal respiratory system morphology
def: "A structural anomaly of the respiratory system." [https://orcid.org/0000-0002-0736-9199]
xref: Fyler:4235
xref: UMLS:C4022992
is_a: HP:0002086 ! Abnormality of the respiratory system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T09:11:09Z

[Term]
id: HP:0012253
name: Abnormal respiratory epithelium morphology
def: "Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi." [https://orcid.org/0000-0002-0736-9199, MP:0010942]
xref: UMLS:C4022991
is_a: HP:0012252 ! Abnormal respiratory system morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T09:12:48Z

[Term]
id: HP:0012254
name: Ewing sarcoma
def: "A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones." [https://orcid.org/0000-0002-0736-9199, PMID:17272319]
comment: Histologically, Ewing's sarcoma is composed of a homogeneous population of small round cells with high nuclear to cytoplasmic ratios that are arrayed in sheets. There is scant cytoplasms, which is pale, vacuolated and characterized by faded boundaries. In contrast, the nuclei are clearly visualized by their intense color. Mitotic activity is typically low.
synonym: "Ewing's sarcoma" EXACT []
xref: SNOMEDCT_US:76909002
xref: UMLS:C0553580
is_a: HP:0100242 ! Sarcoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T01:54:14Z

[Term]
id: HP:0012255
name: Dynein arm defect of respiratory motile cilia
def: "An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy." [https://orcid.org/0000-0002-0736-9199, PMID:19606528]
comment: The peripheral microtubules in the canonical 9 + 2 microtubular pattern of motile cilia are studded with dynein arms that contain adenosine triphosphatases and act as molecular motors to effect the sliding of the peripheral microtubular pairs relative to one another.
xref: UMLS:C4022990
is_a: HP:0005938 ! Abnormal respiratory motile cilium morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T09:20:03Z

[Term]
id: HP:0012256
name: Absent outer dynein arms
def: "Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy." [https://orcid.org/0000-0002-0736-9199, PMID:19606528]
xref: UMLS:C4022989
is_a: HP:0200106 ! Absent/shortened dynein arms
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T09:35:55Z

[Term]
id: HP:0012257
name: Absent inner dynein arms
def: "Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy." [https://orcid.org/0000-0002-5316-1399, PMID:19606528]
xref: UMLS:C4022988
is_a: HP:0200106 ! Absent/shortened dynein arms
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T09:38:46Z

[Term]
id: HP:0012258
name: Abnormal axonemal organization of respiratory motile cilia
def: "Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms." [https://orcid.org/0000-0002-0736-9199, PMID:19606528]
comment: Abnormal axonemal organization comprises anomalies such as an eccentric central pair of microtubuli, abnormal radial spokes and nexin links, reduced number of inner dynein arms, and displacement of the outer doublet.
synonym: "Abnormal axonemal organisation of respiratory motile cilia" EXACT uk_spelling []
xref: UMLS:C4022987
is_a: HP:0005938 ! Abnormal respiratory motile cilium morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T09:49:56Z

[Term]
id: HP:0012259
name: Absent inner and outer dynein arms
def: "Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy." [https://orcid.org/0000-0002-0736-9199, PMID:19606528]
xref: UMLS:C4022986
is_a: HP:0012256 ! Absent outer dynein arms
is_a: HP:0012257 ! Absent inner dynein arms
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T09:40:14Z

[Term]
id: HP:0012260
name: Abnormal central microtubular pair morphology of respiratory motile cilia
def: "A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration." [https://orcid.org/0000-0002-0736-9199, PMID:19200523]
comment: The central microtubular pair is referred to as the central part of axoneme of cilium.
xref: UMLS:C4022985
is_a: HP:0005938 ! Abnormal respiratory motile cilium morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T09:58:27Z

[Term]
id: HP:0012261
name: Abnormal respiratory motile cilium physiology
def: "Any functional anomaly of the respiratory motile cilia." [https://orcid.org/0000-0002-0736-9199, MP:0011055]
comment: Abnormal respiratory motile cilium physiology may include alterations in ciliary beating pattern or frequency.
xref: UMLS:C4022984
is_a: HP:0002795 ! Abnormal respiratory system physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T10:05:43Z

[Term]
id: HP:0012262
name: Abnormal ciliary motility
def: "Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions." [https://orcid.org/0000-0002-0736-9199, PMID:19606528, PMID:20301301]
comment: Ciliated epithelial cells bear approximately 200 motile (9 + 2) cilia that move with both intracellular and intercellular synchrony. The pattern of beat in 9 + 2 motile cilia occurs in a waveform having a forward effective stroke followed by a return stroke. The direction of stroke is a function of the directional orientation of the central microtubules. In addition to moving in synchrony, individual cilia in normal cells are very plastic and move fluidly, sometimes deforming briefly upon encountering resistance and/or particles being transported over the mucosal surface. Cilia are embedded in a watery periciliary fluid of low viscosity, which facilitates the rapid beat cycle to move the more viscous overlying layer of mucus. Ciliary beat frequency ranges from approximately 8-20 Hz under normal conditions but may be accelerated by exposure to irritants such as tobacco smoke.
xref: UMLS:C4022983
is_a: HP:0012261 ! Abnormal respiratory motile cilium physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T10:10:35Z

[Term]
id: HP:0012263
name: Immotile cilia
xref: UMLS:C1855672
is_a: HP:0012262 ! Abnormal ciliary motility
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T10:11:17Z

[Term]
id: HP:0012264
name: Absent central microtubular pair morphology of respiratory motile cilia
def: "Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022982
is_a: HP:0005938 ! Abnormal respiratory motile cilium morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T10:12:06Z

[Term]
id: HP:0012265
name: Ciliary dyskinesia
def: "A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia." [https://orcid.org/0000-0002-0736-9199, PMID:19606528]
comment: Typically, but not always, dyskinesia is characterized by markedly attenuated ciliary beat frequency.
synonym: "Lack of coordinated beating of respiratory cilia" EXACT []
xref: SNOMEDCT_US:86204009
xref: UMLS:C0008780
is_a: HP:0012262 ! Abnormal ciliary motility
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T10:14:07Z

[Term]
id: HP:0012266
name: T-wave alternans
def: "A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG." [https://orcid.org/0000-0002-0736-9199, PMID:17592081]
xref: SNOMEDCT_US:428550008
xref: UMLS:C1998313
is_a: HP:0005135 ! Abnormal T-wave
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T10:23:08Z

[Term]
id: HP:0012267
name: Absent respiratory ciliary axoneme radial spokes
def: "Absence of the radial spokes of the axoneme of the respiratory cilium." [https://orcid.org/0000-0002-0736-9199, PMID:19606528]
xref: UMLS:C4022981
is_a: HP:0005938 ! Abnormal respiratory motile cilium morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T01:56:53Z

[Term]
id: HP:0012268
name: Myxoid liposarcoma
def: "A liposarcoma that contains myxomatous tissue." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:27849002
xref: SNOMEDCT_US:404069006
xref: UMLS:C0206634
is_a: HP:0012034 ! Liposarcoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T01:59:19Z

[Term]
id: HP:0012269
name: Abnormal muscle glycogen content
def: "Any anomaly in the amount of glycogen in muscle tissue." [https://orcid.org/0000-0002-0736-9199]
comment: Glycogen functions as a secondary short term energy storage in muscle.
xref: UMLS:C4022980
is_a: HP:0034370 ! Abnormal muscle tissue metabolite concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T02:04:03Z

[Term]
id: HP:0012270
name: Decreased muscle glycogen content
def: "A decreased amount of glycogen in muscle tissue." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022979
is_a: HP:0012269 ! Abnormal muscle glycogen content
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T02:05:15Z

[Term]
id: HP:0012271
name: Episodic upper airway obstruction
def: "Intermittent episodes of increased resistance to the passage of air in the upper airway." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022978
is_a: HP:0002781 ! Upper airway obstruction
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T02:08:33Z

[Term]
id: HP:0012272
name: J wave
def: "The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point." [https://orcid.org/0000-0002-0736-9199, PMID:19561994]
comment: J waves can be seen in hypothermia when the core body temperature falls below 32 degrees C. Then, they occur most prominently in the inferior leads: II, III, and aVF and the precordial leads: V5-V6. J waves can also be observed in other conditions such as some forms of Brugada syndrome.
synonym: "EKG J waves" EXACT []
synonym: "Osborne waves" EXACT []
xref: UMLS:C4018858
is_a: HP:0003115 ! Abnormal EKG
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T02:11:05Z

[Term]
id: HP:0012273
name: Increased carotid artery intimal medial thickness
def: "An increase in the combined thickness of the intima and media of the carotid artery." [https://orcid.org/0000-0002-0736-9199, PMID:9878640]
comment: This feature can be measured by ultrasonography and is thought to be a risk foctor for myocardial infarction and stroke.
xref: UMLS:C4022977
is_a: HP:0005344 ! Abnormal carotid artery morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T02:16:23Z

[Term]
id: HP:0012274
name: Autosomal dominant inheritance with paternal imprinting
def: "A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing." [https://orcid.org/0000-0002-0736-9199, PMID:18678320]
comment: Since the paternally inherited copy of such genes is silenced normally, only a maternally transmitted mutation leads to disease in this kind of inheritance.
xref: UMLS:C4022976
is_a: HP:0034338 ! Imprinted
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T02:19:07Z

[Term]
id: HP:0012275
name: Autosomal dominant inheritance with maternal imprinting
def: "A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing." [https://orcid.org/0000-0002-0736-9199]
comment: Since the maternally inherited copy of such genes is silenced normally, only a paternally transmitted mutation leads to disease in this kind of inheritance.
xref: UMLS:C4022975
is_a: HP:0034338 ! Imprinted
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T02:54:09Z

[Term]
id: HP:0012276
name: Digital flexor tenosynovitis
def: "Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit." [https://orcid.org/0000-0002-0736-9199, PMID:16443118]
comment: Tenosynovitis refers to inflammation of the protective sheath that surrounds a tendon. Stenosing tenosynovitis, or trigger finger, is diagnosed when a patient presents with a symptomatic locking or clicking of a finger or the thumb. It is caused by a mismatch between the volume of the flexor tendon sheath and its contents. As the flexor tendon attempts to glide through a relatively stenotic sheath, it catches, producing an inability to flex or extend the digit smoothly.
synonym: "Trigger finger" EXACT layperson []
xref: UMLS:C4022974
is_a: HP:0100261 ! Abnormal tendon morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T03:02:33Z

[Term]
id: HP:0012277
name: Hypoglycinemia
def: "An abnormally reduced concentration of glycine in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Low blood glycine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4022973
is_a: HP:0010895 ! Abnormal circulating glycine concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T03:54:41Z

[Term]
id: HP:0012278
name: Abnormal circulating serine concentration
def: "Any deviation from the normal concentration of serine in the blood circulation." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022972
is_a: HP:0010894 ! Abnormal circulating serine family amino acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T03:57:10Z

[Term]
id: HP:0012279
name: Hyposerinemia
def: "Reduced concentration of serine in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Low blood serine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4022971
is_a: HP:0012278 ! Abnormal circulating serine concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T03:57:25Z

[Term]
id: HP:0012280
name: Hepatic amyloidosis
def: "A form of amyloidosis that affects the liver." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:9551004
xref: UMLS:C0267839
is_a: HP:0011034 ! Amyloidosis
is_a: HP:0410042 ! Abnormal liver morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T03:59:46Z

[Term]
id: HP:0012281
name: Chylous ascites
def: "Extravasation of chyle into the peritoneal cavity." [https://orcid.org/0000-0002-0736-9199]
synonym: "Chyloperitoneum" EXACT []
xref: SNOMEDCT_US:52985009
xref: UMLS:C0008732
is_a: HP:0001541 ! Ascites
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T04:08:42Z

[Term]
id: HP:0012282
name: Morbilliform rash
def: "An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days." [https://orcid.org/0000-0002-0736-9199]
comment: A morbilliform rash is said to resemble the rash of measles, rubella or scarlet fever, thus mimicking viral and bacterial exanthemas.
xref: SNOMEDCT_US:247470007
xref: SNOMEDCT_US:50495000
xref: UMLS:C0234918
is_a: HP:4000054 ! Exanthem
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-07T10:11:58Z

[Term]
id: HP:0012283
name: Small distal femoral epiphysis
def: "Reduced size of the Distal epiphysis of femur." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small end part of outermost thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4022970
is_a: HP:0010590 ! Abnormality of the distal femoral epiphysis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-09T07:33:19Z

[Term]
id: HP:0012284
name: Small proximal tibial epiphyses
def: "Reduced size of the proximal epiphysis of the tibia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small end part of innermost shankbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Small end part of innermost shinbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4022969
is_a: HP:0010585 ! Small epiphyses
is_a: HP:0010591 ! Abnormality of the proximal tibial epiphysis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-09T07:36:38Z

[Term]
id: HP:0012285
name: Abnormal hypothalamus physiology
def: "An abnormal functionality of the hypothalamus." [https://orcid.org/0000-0002-0736-9199]
comment: The hypothalamus is linked vascularly with the anterior lobe of the pituitary gland and thereby controls the secretion of pituitary hormones.
xref: UMLS:C4022968
is_a: HP:0000864 ! Abnormality of the hypothalamus-pituitary axis
is_a: HP:0010662 ! Abnormal diencephalon morphology
is_a: HP:0012638 ! Abnormal nervous system physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-09T07:51:07Z

[Term]
id: HP:0012286
name: Abnormal hypothalamus morphology
alt_id: HP:0002443
def: "Any structural anomaly of the hypothalamus." [https://orcid.org/0000-0002-0736-9199]
comment: The hypothalamus is a cone-shaped cerebral structure that projects downward, ending in the pituitary (infundibular) stalk, a tubular connection to the pituitary gland. It is linked vascularly with the anterior lobe of the pituitary gland and thereby controls the secretion of pituitary hormones.
synonym: "Abnormal shape of hypothalamus" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of hypothalamus morphology" EXACT []
synonym: "Abnormality of the hypothalamus" EXACT []
xref: UMLS:C4021095
is_a: HP:0010662 ! Abnormal diencephalon morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-09T07:53:16Z

[Term]
id: HP:0012287
name: Hypothalamic luteinizing hormone-releasing hormone deficiency
def: "Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022967
is_a: HP:0012285 ! Abnormal hypothalamus physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-09T07:54:46Z

[Term]
id: HP:0012288
name: Neoplasm of head and neck
def: "A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx." [https://orcid.org/0000-0002-0736-9199]
synonym: "Head and neck cancer" RELATED []
synonym: "Head and neck tumor" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Head and neck tumour" EXACT uk_spelling []
xref: SNOMEDCT_US:255055008
xref: SNOMEDCT_US:255056009
xref: UMLS:C0018671
xref: UMLS:C0278996
is_a: HP:0011793 ! Neoplasm by anatomical site
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-11T05:44:24Z

[Term]
id: HP:0012289
name: Facial neoplasm
def: "A tumor (abnormal growth of tissue) of the face." [https://orcid.org/0000-0002-0736-9199]
synonym: "Face tumor" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Face tumour" EXACT uk_spelling []
xref: NCIT:C3262
xref: SNOMEDCT_US:126632002
xref: UMLS:C0015461
is_a: HP:0012288 ! Neoplasm of head and neck
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-11T05:46:35Z

[Term]
id: HP:0012290
name: obsolete Mouth neoplasm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
is_obsolete: true
replaced_by: HP:0100649
creation_date: 2013-04-11T05:48:12Z

[Term]
id: HP:0012291
name: obsolete Tracheal neoplasm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
is_obsolete: true
replaced_by: HP:0100551
creation_date: 2013-04-11T05:49:21Z

[Term]
id: HP:0012292
name: Fusion of gums
def: "A congenital defect with an abnormal joining of the gums of the upper and lower jaw." [https://orcid.org/0000-0002-0736-9199, PMID:19858676]
synonym: "Fusion of gums" EXACT layperson []
synonym: "Fusion of the gingiva" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Gingival synechia" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Partial fusion of the gums" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Synechia of the gums" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Upper and lower gums fused together" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4022966
is_a: HP:0000168 ! Abnormality of the gingiva
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-11T05:52:35Z

[Term]
id: HP:0012293
name: Abnormal genital pigmentation
def: "An abnormal pigmentation pattern of the external genitalia." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022965
is_a: HP:0000811 ! Abnormal external genitalia morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-11T06:02:08Z

[Term]
id: HP:0012294
name: Abnormal occipital bone morphology
def: "Abnormality of the occipital bone of the skull." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the occipital bone" EXACT []
xref: UMLS:C4022964
is_a: HP:0002683 ! Abnormal calvaria morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-11T06:21:12Z

[Term]
id: HP:0012295
name: Slender middle phalanx of finger
def: "Reduced diameter of the middle phalanx of finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Slender middle bone of finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4022963
is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-12T05:40:22Z

[Term]
id: HP:0012296
name: Slender distal phalanx of finger
def: "Reduced diameter of the distal phalanx of finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Slender outermost bone of finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4022962
is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-12T05:42:46Z

[Term]
id: HP:0012297
name: Slender proximal phalanx of finger
def: "Reduced diameter of the proximal phalanx of finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Slender innermost bone of finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4022961
is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-12T05:45:35Z

[Term]
id: HP:0012298
name: Long middle phalanx of finger
def: "Increased length of the middle phalanx of finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Long middle bone of finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4022960
is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-12T05:46:43Z

[Term]
id: HP:0012299
name: Long distal phalanx of finger
def: "Increased length of the distal phalanx of finger." [https://orcid.org/0000-0002-0736-9199]
synonym: "Long outermost bone of finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021865
is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-12T05:48:52Z

[Term]
id: HP:0012300
name: Ureteral agenesis
def: "Failure of the ureter to undergo development." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022959
is_a: HP:0025633 ! Abnormal ureter morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-13T06:00:10Z

[Term]
id: HP:0012301
name: Type II transferrin isoform profile
def: "Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation." [https://orcid.org/0000-0002-0736-9199, PMID:15105360, PMID:22516080]
comment: There are several methods in use with which this feature can be diagnosed. Using HPLC analysis increased mono- and trisialotransferrin and reduced tetrasialotransferrin are observed. Using immunoaffinity column analysis, the tri-sialo/di-oligosaccharide transferrin ratio is abnormal.
synonym: "Abnormal isoelectric focusing of serum transferrin, type 2 pattern" RELATED []
synonym: "Abnormal isoelectric focusing of serum transferrin, type II pattern" EXACT []
synonym: "Isoelectric focusing of serum transferrin consistent with CDG type II" EXACT []
synonym: "Type 2 transferrin isoform profile" EXACT []
xref: UMLS:C4021094
is_a: HP:0003160 ! Abnormal isoelectric focusing of serum transferrin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-14T08:55:20Z

[Term]
id: HP:0012302
name: Herpes simplex encephalitis
alt_id: HP:0020098
def: "Infection of the brain parenchyma with herpes simplex virus, resulting in inflammation of the brain parenchyma with neurologic dysfunction." [https://orcid.org/0000-0002-0736-9199, PMID:27106239]
comment: Although infection with HSV is very common in the population, only a miniscule proportion of infected persons develop encephalitis, so that an occurrence of HSV encephalitis is interpreted as a sign of increased susceptibility to HSV. Herpes encephalitis may occur in immunocompromised patients, but HSV-1 is consistently the single most common cause of sporadic encephalitis worldwide.
synonym: "Herpes encephalitis" EXACT []
xref: SNOMEDCT_US:428638009
xref: UMLS:C0276226
is_a: HP:0033993 ! Viral encephalitis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-04-14T02:43:10Z

[Term]
id: HP:0012303
name: Abnormal aortic arch morphology
def: "An anomaly of the arch of aorta." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the aortic arch" EXACT []
xref: Fyler:2700
xref: SNOMEDCT_US:448742006
xref: UMLS:C3163801
is_a: HP:0001679 ! Abnormal aortic morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-08-06T10:06:07Z

[Term]
id: HP:0012304
name: Hypoplastic aortic arch
def: "Underdevelopment of the arch of aorta." [https://orcid.org/0000-0002-0736-9199]
synonym: "Aortic arch hypoplasia" EXACT []
synonym: "Underdeveloped aortic arch" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: Fyler:2704
xref: SNOMEDCT_US:60787001
xref: UMLS:C0265881
is_a: HP:0012303 ! Abnormal aortic arch morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-08-06T10:10:36Z

[Term]
id: HP:0012305
name: Coarctation of the descending aortic arch
def: "Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022958
is_a: HP:0001680 ! Coarctation of aorta
is_a: HP:0012303 ! Abnormal aortic arch morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-08-06T10:34:15Z

[Term]
id: HP:0012306
name: Abnormal rib ossification
def: "An anomaly of the process of rib bone formation." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal maturation of rib bones" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4022957
is_a: HP:0000772 ! Abnormal rib morphology
is_a: HP:0003336 ! Abnormal enchondral ossification
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-08-10T09:31:03Z

[Term]
id: HP:0012307
name: Spatulate ribs
def: "Ribs that are increased in width and taper to the posterior ends." [https://orcid.org/0000-0002-0736-9199, PMID:20504305]
comment: This morphological anomaly of the rib has been compared to a canoe panel or a spatula, whence the name.
xref: UMLS:C1856637
is_a: HP:0000885 ! Broad ribs
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-08-10T10:15:15Z

[Term]
id: HP:0012308
name: Decreased circulating complement C9 concentration
def: "Concentration of the complement component C9 in the blood circulation below the lower limit of normal." [https://emedicine.medscape.com/article/135478-overview]
synonym: "Decreased serum C9" EXACT []
synonym: "Decreased serum complement C9" EXACT []
xref: UMLS:C4021093
is_a: HP:0033057 ! Decreased circulating terminal complement component concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-08-10T11:07:25Z

[Term]
id: HP:0012309
name: Cutaneous amyloidosis
def: "The presence of amyloid deposition in the superficial dermis." [https://orcid.org/0000-0002-0736-9199, PMID:19690585]
xref: SNOMEDCT_US:201337008
xref: SNOMEDCT_US:281882003
xref: SNOMEDCT_US:282834007
xref: SNOMEDCT_US:718105008
xref: UMLS:C0268397
is_a: HP:0011034 ! Amyloidosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-08-10T11:59:57Z

[Term]
id: HP:0012310
name: Abnormal monocyte count
def: "Abnormal increase or decrease of total monocytes, or their phenotype, in the blood, compared to a reference range for a given sex and age-group, measured ex vivo." [https://orcid.org/0000-0002-0736-9199]
comment: Mmonocytes are myeloid mononuclear recirculating leukocytes that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.
synonym: "Abnormal monocyte number" EXACT []
xref: SNOMEDCT_US:165540007
xref: SNOMEDCT_US:165541006
xref: UMLS:C0580319
is_a: HP:0011893 ! Abnormal leukocyte count
is_a: HP:0012144 ! Abnormal monocyte morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-08-10T12:07:14Z

[Term]
id: HP:0012311
name: Increased total monocyte count
def: "Abnormal increase of absolute number of monocytes in the blood, per microlitre, compared to a reference range for a given sex and age-group." [https://orcid.org/0000-0002-0736-9199]
synonym: "High blood monocyte number" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Monocytosis" EXACT []
xref: SNOMEDCT_US:19636003
xref: UMLS:C0085702
is_a: HP:0012310 ! Abnormal monocyte count
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-08-10T12:09:16Z

[Term]
id: HP:0012312
name: Decreased total monocyte count
def: "Abnormal decrease of absolute number of monocytes in the blood, per microlitre, compared to a reference range for a given sex and age-group." [https://orcid.org/0000-0002-0736-9199]
synonym: "Low blood monocyte number" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Monocytopenia" EXACT []
xref: SNOMEDCT_US:165539005
xref: UMLS:C0427544
is_a: HP:0012310 ! Abnormal monocyte count
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-08-10T12:10:07Z

[Term]
id: HP:0012313
name: Heberden node
def: "Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically." [https://orcid.org/0000-0002-0736-9199, PMID:10531070, PMID:17488856, PMID:18390583, PMID:9709182]
comment: Heberden's nodes are nodular deformities at the distal interphalangeal joint of the fingers (usually the middle and index) and are commonly seen in the elderly. The deformity is created by osteophyte formation and synovial thickening at the margin ofan osteoarthritic joint. Significant functional problems are rarely encountered though patients may suffer with stiffness and pain. Surgical intervention is seldom indicated unless there is severe pain or instability. In such cases, a joint fusion may be appropriate.
synonym: "Heberden's node" EXACT []
xref: SNOMEDCT_US:371598009
xref: UMLS:C0018862
is_a: HP:0006247 ! Enlarged interphalangeal joints
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-08-10T12:19:59Z

[Term]
id: HP:0012314
name: Bouchard node
def: "Bony swelling of the proximal interphalangeal joint (PIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically." [https://orcid.org/0000-0002-0736-9199, PMID:10531070, PMID:9709182]
comment: Heberden's nodes are generally a sign of osteoarthritis.
synonym: "Bouchard's node" EXACT []
xref: SNOMEDCT_US:20243008
xref: UMLS:C0263780
is_a: HP:0006247 ! Enlarged interphalangeal joints
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-08-10T12:27:25Z

[Term]
id: HP:0012315
name: Histiocytoma
def: "A neoplasm containing histiocytes." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:128741006
xref: SNOMEDCT_US:302843004
xref: UMLS:C1509147
is_a: HP:0012316 ! Fibrous tissue neoplasm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-08-10T12:30:05Z

[Term]
id: HP:0012316
name: Fibrous tissue neoplasm
def: "Any neoplasm composed of fibrous tissue." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C0206643
is_a: HP:0011792 ! Neoplasm by histology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-08-10T12:31:38Z

[Term]
id: HP:0012317
name: Sacroiliac arthritis
def: "Inflammation of the sacroiliac joint, generally accompanied by lower back pain." [https://orcid.org/0000-0002-0736-9199]
synonym: "Sacroiliitis" EXACT []
xref: UMLS:C0748473
is_a: HP:0002758 ! Osteoarthritis
is_a: HP:0100781 ! Abnormal sacroiliac joint morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-08-10T12:58:43Z

[Term]
id: HP:0012318
name: Occipital neuralgia
def: "A distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side." [https://orcid.org/0000-0002-0736-9199, PMID:21569290]
comment: Typically, the pain of occipital neuralgia begins at the base of the head and spreads upward within the distribution of the greater and lesser occipital nerves. Characteristically, it is neuropathic, with paroxysmal episodes of shooting electric shock-like symptoms.
xref: SNOMEDCT_US:71760005
xref: UMLS:C0007863
is_a: HP:0002315 ! Headache
is_a: HP:0033345 ! Neuralgia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-08-10T01:07:45Z

[Term]
id: HP:0012319
name: Absent pigmentation of the abdomen
def: "Lack of skin pigmentation (coloring) of the abdomen." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022956
is_a: HP:0200098 ! Absent skin pigmentation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-08-10T08:21:54Z

[Term]
id: HP:0012320
name: Absent pigmentation of the limbs
def: "Lack of skin pigmentation (coloring) of the arms and legs." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022955
is_a: HP:0200098 ! Absent skin pigmentation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-08-10T08:22:30Z

[Term]
id: HP:0012321
name: D-2-hydroxyglutaric aciduria
def: "An increased concentration of 2-hydroxyglutaric acid in the urine." [https://orcid.org/0000-0002-0736-9199, PMID:20847235]
xref: SNOMEDCT_US:237960000
xref: UMLS:C1833429
is_a: HP:0032278 ! 2-hydroxyglutarate aciduria
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-08-11T08:46:46Z

[Term]
id: HP:0012322
name: Perifolliculitis
def: "Inflammation surrounding hair follicles." [https://orcid.org/0000-0002-0736-9199]
synonym: "Perifollicular inflammation" EXACT []
xref: SNOMEDCT_US:83341004
xref: UMLS:C0263006
is_a: HP:0011123 ! Inflammatory abnormality of the skin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-08-11T09:25:58Z

[Term]
id: HP:0012323
name: Sleep myoclonus
def: "Myoclonus that occurs during the initial phases of sleep." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:34101000119105
xref: UMLS:C0751352
is_a: HP:0001336 ! Myoclonus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-08-11T10:21:47Z

[Term]
id: HP:0012324
name: Myeloid leukemia
def: "A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow." [https://orcid.org/0000-0002-0736-9199]
synonym: "Myeloid leukaemia" EXACT uk_spelling []
xref: SNOMEDCT_US:128934006
xref: SNOMEDCT_US:188732008
xref: SNOMEDCT_US:37810007
xref: UMLS:C0023470
is_a: HP:0001909 ! Leukemia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-08-12T06:38:18Z

[Term]
id: HP:0012325
name: Chronic myelomonocytic leukemia
def: "A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement." [NCIT:C3178]
synonym: "Chronic myelomonocytic leukaemia" EXACT uk_spelling []
xref: SNOMEDCT_US:127225006
xref: SNOMEDCT_US:128831004
xref: UMLS:C0023480
is_a: HP:0012324 ! Myeloid leukemia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-08-12T06:45:11Z

[Term]
id: HP:0012326
name: Abnormal celiac artery morphology
def: "An anomaly of the celiac artery." [https://orcid.org/0000-0002-0736-9199]
comment: The celiac artery (celiac trunk or truncus coeliacus) is the first major branch of the abdominal aorta.
synonym: "Abnormal coeliac artery morphology" EXACT uk_spelling []
synonym: "Abnormality of the celiac artery" EXACT []
synonym: "Abnormality of the coeliac artery" EXACT uk_spelling []
xref: UMLS:C4022954
is_a: HP:0011004 ! Abnormal systemic arterial morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-08-12T08:47:21Z

[Term]
id: HP:0012327
name: Celiac artery compression
def: "Compression of the celiac artery." [https://orcid.org/0000-0002-0736-9199]
comment: This feature may be characterized by abdominal pain related to compression of the celiac artery by fibers of the median arcuate ligament.
synonym: "Celiac axis syndrome" RELATED []
synonym: "Coeliac artery compression" EXACT uk_spelling []
synonym: "Coeliac axis syndrome" RELATED uk_spelling []
synonym: "Dunbar syndrome" RELATED []
synonym: "Median arcuate ligament syndrome" RELATED []
xref: SNOMEDCT_US:9250002
xref: UMLS:C0152098
xref: UMLS:C4020693
is_a: HP:0012326 ! Abnormal celiac artery morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-08-12T08:49:18Z

[Term]
id: HP:0012328
name: Cementoma
def: "An odontogenic tumor of the cementum of tooth." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:23255001
xref: SNOMEDCT_US:37258009
xref: UMLS:C0007659
is_a: HP:0100612 ! Odontogenic neoplasm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-08-12T08:55:10Z

[Term]
id: HP:0012329
name: Tufted angioma
def: "A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation." [https://orcid.org/0000-0002-0736-9199, PMID:2644316]
synonym: "Angioblastoma" EXACT []
synonym: "Angioblastoma of Nakagawa" EXACT []
synonym: "Hypertrophic hemangioma" EXACT []
synonym: "Progressive capillary hemangioma" EXACT []
synonym: "Tufted hemangioma" EXACT []
xref: SNOMEDCT_US:254786000
xref: SNOMEDCT_US:705155008
xref: UMLS:C0346073
is_a: HP:0001028 ! Hemangioma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-08-12T08:57:58Z

[Term]
id: HP:0012330
name: Pyelonephritis
def: "An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices." [https://orcid.org/0000-0002-0736-9199]
comment: Pyelonephritis may be unilateral or bilateral and is often characterized by abdominal pain, fever, nausea, and vomiting.
xref: SNOMEDCT_US:45816000
xref: UMLS:C0034186
is_a: HP:0000123 ! Nephritis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-13T07:37:08Z

[Term]
id: HP:0012331
name: Abnormal autonomic nervous system morphology
def: "A structural abnormality of the autonomic nervous system." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022953
is_a: HP:0002270 ! Abnormality of the autonomic nervous system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-13T07:52:31Z

[Term]
id: HP:0012332
name: Abnormal autonomic nervous system physiology
alt_id: HP:0002271
alt_id: HP:0002387
alt_id: HP:0002459
alt_id: HP:0007310
def: "A functional abnormality of the autonomic nervous system." [https://orcid.org/0000-0002-0736-9199]
synonym: "Autonomic dysfunction" EXACT []
synonym: "Autonomic dysregulation" EXACT []
synonym: "Dysautonomia" EXACT []
xref: UMLS:C4022952
is_a: HP:0002270 ! Abnormality of the autonomic nervous system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-13T07:53:55Z

[Term]
id: HP:0012333
name: Abnormal sudomotor regulation
def: "An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration." [https://orcid.org/0000-0002-0736-9199]
comment: Normally, the cholinergic innervation via the sympathetic nervous system activates muscarinic acetylcholine receptors in sweat glands, thereby leading to perspiration. This terms refers to an abnormally increased or decreased activity of this system.
synonym: "Sudomotor sympathetic dysfunction" EXACT []
xref: UMLS:C4021092
is_a: HP:0012332 ! Abnormal autonomic nervous system physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-13T08:04:38Z

[Term]
id: HP:0012334
name: Extrahepatic cholestasis
def: "Impairment of bile flow due to obstruction in large bile ducts outside the liver." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:20719006
xref: SNOMEDCT_US:8262006
xref: UMLS:C0005398
is_a: HP:0001396 ! Cholestasis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-13T08:13:48Z

[Term]
id: HP:0012335
name: Abnormality of folate metabolism
def: "An abnormality of the metabolism of folic acid, which is also known as vitamin B9." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022951
is_a: HP:0004340 ! Abnormality of vitamin B metabolism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-13T08:38:06Z

[Term]
id: HP:0012336
name: obsolete Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
is_obsolete: true
replaced_by: HP:0012446
creation_date: 2013-09-13T08:39:17Z

[Term]
id: HP:0012337
name: Abnormal homeostasis
def: "An anomaly in the processes involved in the maintenance of an internal equilibrium." [https://orcid.org/0000-0002-0736-9199]
xref: MP:0001764 "Abnormal homeostasis"
xref: UMLS:C4022950
is_a: HP:0001939 ! Abnormality of metabolism/homeostasis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-13T09:23:23Z

[Term]
id: HP:0012338
name: Abnormal energy expenditure
def: "Any anomaly in the utilization of energy (calories)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal energy expenditure" EXACT layperson []
xref: UMLS:C4022949
is_a: HP:0012337 ! Abnormal homeostasis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-13T09:24:54Z

[Term]
id: HP:0012339
name: Increased resting energy expenditure
def: "An increase in the number of calories used per unit time." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022948
is_a: HP:0012338 ! Abnormal energy expenditure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-13T09:25:29Z

[Term]
id: HP:0012340
name: Decreased resting energy expenditure
def: "A reduction in the number of calories used per unit time." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022947
is_a: HP:0012338 ! Abnormal energy expenditure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-13T09:27:05Z

[Term]
id: HP:0012341
name: Microprolactinoma
def: "A pituitary prolactin cell adenoma of less than 10 mm diameter." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:253010003
xref: UMLS:C0344452
is_a: HP:0006767 ! Pituitary prolactin cell adenoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-13T09:49:32Z

[Term]
id: HP:0012342
name: Macroprolactinoma
def: "A pituitary prolactin cell adenoma of more than 10 mm diameter." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:253011004
xref: UMLS:C0344453
is_a: HP:0006767 ! Pituitary prolactin cell adenoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-13T09:50:29Z

[Term]
id: HP:0012343
name: Decreased circulating ferritin concentration
def: "Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood." [https://orcid.org/0000-0002-0736-9199]
comment: Ferritin levels measured in serum usually have a direct correlation with the total amount of iron stored in the body, but ferritin levels may also be increased with anemia of chronic disease or in the course of an acute phase reaction.
synonym: "Decreased plasma ferritin" EXACT []
synonym: "Decreased serum ferritin" EXACT layperson []
synonym: "Low ferritin level" EXACT layperson []
synonym: "Reduced serum ferritin" EXACT layperson []
xref: UMLS:C0241012
is_a: HP:0040133 ! Abnormal circulating ferritin concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-13T09:51:46Z

[Term]
id: HP:0012344
name: Morphea
def: "Isolated patches of hardened skin (scleroderma)." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:201049004
xref: UMLS:C1527383
is_a: HP:0001072 ! Thickened skin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-13T09:55:47Z

[Term]
id: HP:0012345
name: Abnormal glycosylation
def: "An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022946
is_a: HP:0032245 ! Abnormal metabolism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-15T09:06:16Z

[Term]
id: HP:0012346
name: Abnormal protein glycosylation
def: "An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022945
is_a: HP:0012345 ! Abnormal glycosylation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-15T09:09:40Z

[Term]
id: HP:0012347
name: Abnormal protein N-linked glycosylation
def: "An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein." [https://orcid.org/0000-0002-0736-9199, PMID:22516080]
comment: Essentially, all proteins (except albumin) that travel through the ER-Golgi network undergo N-linked glycosylation. Glycans promote protein folding, stability, trafficking, localisation, and oligomerisation. They play vital parts in cell-cell interactions and intracellular signaling.
xref: UMLS:C4022944
is_a: HP:0012346 ! Abnormal protein glycosylation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-15T09:29:59Z

[Term]
id: HP:0012348
name: Decreased galactosylation of N-linked protein glycosylation
def: "A reduction in the amount of galactose residues of N-glycans." [https://orcid.org/0000-0002-0736-9199]
comment: The majority of complex and hybrid N-glycans have elongated branches that are made by the addition of a beta-linked galactose residue to the initiating N-acetylglucosamine to produce the ubiquitous building block Gal-beta-linked1-4GlcNAc, referred to as a type-2 N-acetyllactosamine (LacNAc) sequence.
xref: UMLS:C4022943
is_a: HP:0012347 ! Abnormal protein N-linked glycosylation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-15T10:02:47Z

[Term]
id: HP:0012349
name: Abnormal sialylation of N-linked protein glycosylation
def: "An anomaly of the addition of sialic acids to N-linked glycans." [https://orcid.org/0000-0002-0736-9199]
comment: The most common sialic acids is N-acetylneuraminic acid (Neu5Ac).
xref: UMLS:C4022942
is_a: HP:0012347 ! Abnormal protein N-linked glycosylation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-15T10:08:34Z

[Term]
id: HP:0012350
name: Decreased sialylation of N-linked protein glycosylation
def: "Decreased addition of sialic acids to N-linked glycans." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022941
is_a: HP:0012349 ! Abnormal sialylation of N-linked protein glycosylation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-15T10:14:42Z

[Term]
id: HP:0012351
name: Increased sialylation of N-linked protein glycosylation
def: "Increased addition of sialic acids to N-linked glycans." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022940
is_a: HP:0012349 ! Abnormal sialylation of N-linked protein glycosylation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-15T10:15:28Z

[Term]
id: HP:0012352
name: Abnormal fucosylation of protein N-linked glycosylation
def: "An anomaly of the addition of fucose sugar units to N-linked glycans." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022939
is_a: HP:0012347 ! Abnormal protein N-linked glycosylation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-15T10:17:55Z

[Term]
id: HP:0012353
name: Decreased fucosylation of N-linked protein glycosylation
def: "Decreased addition of fucose sugar units to N-linked glycans." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022938
is_a: HP:0012352 ! Abnormal fucosylation of protein N-linked glycosylation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-15T10:20:00Z

[Term]
id: HP:0012354
name: Increased fucosylation of N-linked protein glycosylation
def: "Increased addition of fucose sugar units to N-linked glycans." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022937
is_a: HP:0012352 ! Abnormal fucosylation of protein N-linked glycosylation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-15T10:21:15Z

[Term]
id: HP:0012355
name: Abnormal mannosylation of N-linked protein glycosylation
def: "An anomaly of the addition of mannose to N-linked glycans." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022936
is_a: HP:0012347 ! Abnormal protein N-linked glycosylation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-15T10:23:53Z

[Term]
id: HP:0012356
name: Decreased mannosylation of N-linked protein glycosylation
def: "Reduced addition of mannose to N-linked glycans." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022935
is_a: HP:0012355 ! Abnormal mannosylation of N-linked protein glycosylation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-15T10:24:56Z

[Term]
id: HP:0012357
name: Increased mannosylation of N-linked protein glycosylation
def: "Increased addition of mannose to N-linked glycans." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022934
is_a: HP:0012355 ! Abnormal mannosylation of N-linked protein glycosylation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-15T10:25:28Z

[Term]
id: HP:0012358
name: Abnormal protein O-linked glycosylation
def: "An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022933
is_a: HP:0012346 ! Abnormal protein glycosylation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-15T10:26:49Z

[Term]
id: HP:0012359
name: Abnormal fucosylation of O-linked protein glycosylation
def: "An anomaly of the addition of fucose sugar units to O-linked glycans." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022932
is_a: HP:0012358 ! Abnormal protein O-linked glycosylation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-15T10:31:07Z

[Term]
id: HP:0012360
name: Decreased fucosylation of O-linked protein glycosylation
def: "A reduction of the addition of fucose sugar units to O-linked glycans." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022931
is_a: HP:0012359 ! Abnormal fucosylation of O-linked protein glycosylation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-15T10:33:00Z

[Term]
id: HP:0012361
name: Increased fucosylation of O-linked protein glycosylation
def: "Increased addition of fucose sugar units to O-linked glycans." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022930
is_a: HP:0012359 ! Abnormal fucosylation of O-linked protein glycosylation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-15T10:34:38Z

[Term]
id: HP:0012362
name: Abnormal sialylation of O-linked protein glycosylation
def: "An anomaly of the addition of sialic acids to O-linked glycans." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022929
is_a: HP:0012358 ! Abnormal protein O-linked glycosylation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-15T10:36:12Z

[Term]
id: HP:0012363
name: Decreased sialylation of O-linked protein glycosylation
def: "An reduced addition of sialic acids to O-linked glycans." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022928
is_a: HP:0012362 ! Abnormal sialylation of O-linked protein glycosylation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-09-15T10:36:43Z

[Term]
id: HP:0012364
name: Decreased urinary potassium
def: "A decreased concentration of potassium(1+) in the urine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased urinary K" EXACT abbreviation []
synonym: "Hypokaliuria" EXACT []
synonym: "Hypokaluria" EXACT []
synonym: "Low urine potassium levels" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:54781007
xref: UMLS:C0268024
is_a: HP:0012598 ! Abnormal urine potassium concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-10-03T10:21:51Z

[Term]
id: HP:0012365
name: Hypophosphaturia
def: "An abnormally decreased phosphate concentration in the urine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Low urine phosphate levels" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:91632005
xref: UMLS:C0268077
is_a: HP:0012599 ! Abnormal urine phosphate concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-10-03T10:25:06Z

[Term]
id: HP:0012366
name: Basilar invagination
def: "Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama)." [https://orcid.org/0000-0002-0736-9199, PMID:10084535]
xref: UMLS:C3887851
is_a: HP:0000932 ! Abnormal posterior cranial fossa morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-10-13T12:18:53Z

[Term]
id: HP:0012367
name: Extra fontanelles
def: "Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull." [https://orcid.org/0000-0002-0736-9199]
comment: Extra fontanelles include glabellar, metopic, sagittal (parietal) and cerebellar fontanelles.
subset: hposlim_core
xref: UMLS:C4022927
is_a: HP:0011328 ! Abnormal fontanelle morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-10-13T12:27:03Z

[Term]
id: HP:0012368
name: Flat face
def: "Absence of concavity or convexity of the face when viewed in profile." [PMID:19125436]
comment: A useful guide is to imagine that a line connecting the glabella to the anterior most part of the mandible touches the top of the philtrum where it meets the base of the columella. The glabella is the most prominent point on the frontal bone above the root of the nose. If the superior philtrum is anterior to this line the face is convex, if the superior philtrum is posterior to this line the face is concave.
subset: hposlim_core
synonym: "Flat face" EXACT layperson []
synonym: "Flat facial profile" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Flat facial shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Flat facies" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1853241
is_a: HP:0001999 ! Abnormal facial shape
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-10-13T01:49:13Z

[Term]
id: HP:0012369
name: obsolete Abnormal malar bone morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
is_obsolete: true
replaced_by: HP:0010668
creation_date: 2013-10-13T02:37:51Z

[Term]
id: HP:0012370
name: Prominence of the zygomatic bone
def: "Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'." [https://orcid.org/0000-0001-5889-4463, PMID:19125436]
subset: hposlim_core
synonym: "Cheekbone excess" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Cheekbone prominence" EXACT []
synonym: "Hyperplasia of cheekbone" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Hyperplasia of zygomatic bone" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Malar hypertrophy" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Prominence of cheekbone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Pronounced cheekbone" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Zygomatic bone excess" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Zygomatic hypertrophy" NARROW [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:427888001
xref: UMLS:C0375511
xref: UMLS:C1997760
xref: UMLS:C4082245
is_a: HP:0010668 ! Abnormal zygomatic bone morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-10-13T02:50:15Z

[Term]
id: HP:0012371
name: Hyperplasia of midface
alt_id: HP:0010279
def: "Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face" [https://orcid.org/0000-0002-0736-9199, PMID:19125436]
comment: This term represents increased size of the maxilla (upper jaw) in length (increased midface height) or anterior-posterior projection (midface prominence). In the presence of normal mandible size, maxillary prominence may give the appearance of retrognathia.
subset: hposlim_core
synonym: "Big midface" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypertrophy of midface" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Large midface" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Midface hyperplasia" EXACT [https://orcid.org/0000-0002-5316-1399]
synonym: "Midfacial excess" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Midfacial prominence" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Overgrowth of the midface" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C0240309
is_a: HP:0000309 ! Abnormal midface morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-10-13T02:55:54Z

[Term]
id: HP:0012372
name: Abnormal eye morphology
alt_id: HP:0000489
alt_id: HP:0012374
def: "A structural anomaly of the globe of the eye, or bulbus oculi." [https://orcid.org/0000-0002-0736-9199]
comment: previously: Abnormal globe morphology
synonym: "Abnormal eye structure" EXACT layperson []
synonym: "Abnormality of the globe" EXACT []
synonym: "Abnormally shaped eye" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: Fyler:4863
xref: UMLS:C4022925
is_a: HP:0000478 ! Abnormality of the eye
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-10-13T03:44:43Z

[Term]
id: HP:0012373
name: Abnormal eye physiology
def: "A functional anomaly of the eye." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal eye physiology" EXACT layperson []
synonym: "Abnormal vision physiology" BROAD []
xref: UMLS:C4022924
is_a: HP:0000478 ! Abnormality of the eye
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-10-13T03:45:37Z

[Term]
id: HP:0012374
name: obsolete Abnormal globe morphology
is_obsolete: true
replaced_by: HP:0012372

[Term]
id: HP:0012375
name: Chemosis
def: "Edema (swelling) of the bulbar conjunctiva." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:8148005
xref: UMLS:C0271298
is_a: HP:0000502 ! Abnormal conjunctiva morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-10-13T05:45:45Z

[Term]
id: HP:0012376
name: Microphakia
def: "Abnormal smallness of the lens." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Small lens" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:35272001
xref: UMLS:C0266541
is_a: HP:0008063 ! Aplasia/Hypoplasia of the lens
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-10-13T06:11:11Z

[Term]
id: HP:0012377
name: Hemianopia
def: "Partial or complete loss of vision in one half of the visual field of one or both eyes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hemianopsia" EXACT []
xref: SNOMEDCT_US:77674003
xref: UMLS:C0018979
is_a: HP:0001123 ! Visual field defect
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-10-13T07:55:21Z

[Term]
id: HP:0012378
name: Fatigue
def: "A subjective feeling of tiredness characterized by a lack of energy and motivation." [https://orcid.org/0000-0002-0736-9199]
comment: Fatigue is distinct from muscle weakness.
synonym: "Fatigue" EXACT layperson []
synonym: "Tired" EXACT layperson []
synonym: "Tiredness" EXACT layperson []
xref: SNOMEDCT_US:248274002
xref: SNOMEDCT_US:84229001
xref: UMLS:C0015672
is_a: HP:0025142 ! Constitutional symptom
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-10-15T08:52:04Z

[Term]
id: HP:0012379
name: Abnormal circulating enzyme concentration or activity
def: "Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation." [https://orcid.org/0000-0002-0736-9199, MP:0005584]
xref: UMLS:C4022922
is_a: HP:0034684 ! Abnormal enzyme concentration or activity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-10-15T08:58:55Z

[Term]
id: HP:0012380
name: Reduced tissue carnitine O-palmitoyltransferase 2 activity
def: "Reduced carnitine O-palmitoyltransferase (CPT II; EC 2.3.1.21) activity or level, leading to a reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine. (CPT II activity can be measured in tissues including fibroblasts, lymphoblasts, and skeletal muscle." [https://orcid.org/0000-0002-0736-9199, PMID:1528846]
xref: UMLS:C4022921
is_a: HP:6000231 ! Abnormal tissue enzyme concentration or activity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-10-15T09:00:17Z

[Term]
id: HP:0012381
name: Delayed self-feeding during toddler years
def: "A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age)." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022920
is_a: HP:0011968 ! Feeding difficulties
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-10-16T11:46:54Z

[Term]
id: HP:0012382
name: Left-to-right shunt
def: "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right." [https://orcid.org/0000-0001-9114-8737]
xref: SNOMEDCT_US:66130006
xref: UMLS:C0428870
is_a: HP:0001693 ! Cardiac shunt
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-10-16T11:54:21Z

[Term]
id: HP:0012383
name: Bidirectional shunt
def: "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa." [https://orcid.org/0000-0001-9114-8737]
xref: SNOMEDCT_US:13352000
xref: UMLS:C0428872
is_a: HP:0001693 ! Cardiac shunt
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-10-16T11:54:45Z

[Term]
id: HP:0012384
name: Rhinitis
def: "Inflammation of the nasal mucosa with nasal congestion." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Nasal inflammation" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:70076002
xref: UMLS:C0035455
xref: UMLS:C2718128
is_a: HP:0000366 ! Abnormality of the nose
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2013-10-19T05:37:08Z

[Term]
id: HP:0012385
name: Camptodactyly
def: "The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension." [https://orcid.org/0000-0002-0736-9199]
subset: hposlim_core
synonym: "Permanent flexion of the finger or toe" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:29271008
xref: UMLS:C0685409
is_a: HP:0030044 ! Flexion contracture of digit
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2013-10-20T08:08:19Z

[Term]
id: HP:0012386
name: Absent hallux
def: "Aplasia of the hallux, that is, a development defect such that the big toe does not develop." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Agenesis of the halluces" EXACT []
synonym: "Aplasia of the hallux" EXACT []
synonym: "Missing big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1841686
is_a: HP:0008362 ! Aplasia/Hypoplasia of the hallux
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2013-10-20T12:03:14Z

[Term]
id: HP:0012387
name: Bronchitis
def: "Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:32398004
xref: UMLS:C0006277
is_a: HP:0011947 ! Respiratory tract infection
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-07T07:24:16Z

[Term]
id: HP:0012388
name: Acute bronchitis
def: "Inflammation of the large airways of the lung with rapid onset and short course usually associated with cough, mucus production, shortness of breath, wheezing, and chest tightness." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:10509002
xref: SNOMEDCT_US:35301006
xref: UMLS:C0149514
is_a: HP:0012387 ! Bronchitis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-07T07:27:42Z

[Term]
id: HP:0012389
name: Appendicular hypotonia
def: "Muscular hypotonia of one or more limbs." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022919
is_a: HP:0001252 ! Hypotonia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-07T07:31:51Z

[Term]
id: HP:0012390
name: Anal fissure
def: "A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Anal erosion" RELATED []
xref: SNOMEDCT_US:20928004
xref: SNOMEDCT_US:30037006
xref: UMLS:C0016167
is_a: HP:0034915 ! Abnormal anus morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-07T07:36:49Z

[Term]
id: HP:0012391
name: Hyporeflexia of upper limbs
def: "Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1836835
is_a: HP:0001265 ! Hyporeflexia
is_a: HP:0002817 ! Abnormality of the upper limb
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-07T07:42:49Z

[Term]
id: HP:0012392
name: Jaw hyporeflexia
def: "Reduced intensity of muscle tendon reflexes in jaw." [https://orcid.org/0000-0002-0736-9199]
comment: The jaw jerk is elicited by the examiner placing the tip of the index finger on a relaxed jaw, one that is about one-third open. One then taps briskly on the index finger with the other hand and notes the speed as the mandible is flexed.
synonym: "Mandibular hyporeflexia" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4022918
is_a: HP:0001265 ! Hyporeflexia
is_a: HP:0045037 ! Abnormality of jaw muscles
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-07T07:43:29Z

[Term]
id: HP:0012393
name: Allergy
def: "An allergy is an immune response or reaction to substances that are usually not harmful." [https://orcid.org/0000-0002-0736-9199]
synonym: "Allergy" EXACT layperson []
xref: SNOMEDCT_US:419076005
xref: UMLS:C1527304
is_a: HP:0100326 ! Immunologic hypersensitivity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-07T07:47:22Z

[Term]
id: HP:0012394
name: Iodine contrast allergy
def: "Allergy to iodine contrast media used in radiological studies." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022917
is_a: HP:0012393 ! Allergy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-07T07:49:32Z

[Term]
id: HP:0012395
name: Seasonal allergy
def: "An allergy experienced at a particular time of year when trees or grasses pollinate and elicit an allergic reaction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Seasonal allergy" EXACT layperson []
xref: SNOMEDCT_US:21719001
xref: SNOMEDCT_US:300910009
xref: SNOMEDCT_US:367498001
xref: SNOMEDCT_US:444316004
xref: UMLS:C0018621
is_a: HP:0012393 ! Allergy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-07T07:51:48Z

[Term]
id: HP:0012396
name: Biliary dyskinesia
def: "A motility disorder characterized by biliary colic in the absence of gallstones with a reduced gallbladder ejection fraction." [https://orcid.org/0000-0002-0736-9199, PMID:12095476]
xref: SNOMEDCT_US:197432008
xref: UMLS:C0005416
is_a: HP:0012439 ! Abnormal biliary tract physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-07T07:56:55Z

[Term]
id: HP:0012397
name: Aortic atherosclerotic lesion
def: "The presence of atheromas or atherosclerotic plaques in the aorta." [https://orcid.org/0000-0002-0736-9199, PMID:16818829]
synonym: "Aortic atherosclerosis" BROAD []
synonym: "Atherosclerosis of the aorta" EXACT []
synonym: "Atherosclerotic changes of aorta" EXACT []
synonym: "Plaque build-up in aorta artery" BROAD [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:81817003
xref: UMLS:C0155733
is_a: HP:0001679 ! Abnormal aortic morphology
is_a: HP:0002621 ! Atherosclerosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-07T08:04:30Z

[Term]
id: HP:0012398
name: Peripheral edema
def: "An abnormal accumulation of interstitial fluid in the soft tissues of the limbs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Peripheral oedema" EXACT uk_spelling []
xref: SNOMEDCT_US:271809000
xref: SNOMEDCT_US:82014009
xref: UMLS:C0085649
is_a: HP:0000969 ! Edema
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-08T08:09:45Z

[Term]
id: HP:0012399
name: Pressure ulcer
def: "A type of ulcer that is caused when an area of skin is subject to pressure over a prolonged period of time, ranging in range in severity from patches of discolored skin to open wounds that expose the underlying bone or muscle. The most common sites are the sacrum, coccyx, heels and the hips." [https://orcid.org/0000-0002-0736-9199]
comment: Pressure ulcers tend to affect persons with reduced mobility who are bedridden or wheelchair-bound.
synonym: "Bedsore" EXACT layperson []
synonym: "Decubitus Ulcer" EXACT []
synonym: "Pressure Sore" EXACT layperson []
synonym: "Pressure ulcer" EXACT layperson []
xref: SNOMEDCT_US:399912005
xref: SNOMEDCT_US:420226006
xref: UMLS:C0011127
is_a: HP:0200042 ! Skin ulcer
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-08T08:49:52Z

[Term]
id: HP:0012400
name: Abnormal circulating aldolase concentration
def: "An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate." [https://orcid.org/0000-0002-0736-9199]
comment: The reaction catalyzed by aldolase is a component of the glycolysis pathway.
synonym: "Abnormal aldolase level" EXACT []
xref: UMLS:C4022916
is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-09T03:35:35Z

[Term]
id: HP:0012401
name: Abnormal urine alpha-ketoglutarate concentration
def: "A deviation from normal of the concentration of 2-oxoglutaric acid in the urine." [https://orcid.org/0000-0002-0736-9199]
comment: Note that alpha-ketoglutaric acid is also known as 2-ketoglutaric acid, alpha-ketoglutaric acid, 2-xxoglutaric acid, and oxoglutaric acid.
synonym: "Abnormal urinary 2-oxoglutarate level" EXACT []
synonym: "Abnormality of urine alpha ketoglutarate concentration" EXACT []
xref: UMLS:C4020902
is_a: HP:0033354 ! Abnormal urine metabolite level
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-09T03:45:40Z

[Term]
id: HP:0012402
name: Increased urine alpha-ketoglutarate concentration
def: "A greater than normal concentration of 2-oxoglutaric acid in the urine." [https://orcid.org/0000-0002-0736-9199]
comment: Note that alpha-ketoglutaric acid is also known as 2-ketoglutaric acid, alpha-ketoglutaric acid, 2-xxoglutaric acid, and oxoglutaric acid.
synonym: "Elevated urinary 2-oxoglutarate" EXACT []
synonym: "Increased urine alpha-ketoglutarate concentration" EXACT layperson []
xref: UMLS:C4022915
is_a: HP:0012401 ! Abnormal urine alpha-ketoglutarate concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-09T03:48:37Z

[Term]
id: HP:0012403
name: Decreased urine alpha-ketoglutarate concentration
def: "A lower than normal concentration of 2-oxoglutaric acid in the urine." [https://orcid.org/0000-0002-0736-9199]
comment: Note that alpha-ketoglutaric acid is also known as 2-ketoglutaric acid, alpha-ketoglutaric acid, 2-xxoglutaric acid, and oxoglutaric acid.
synonym: "Decreased urinary 2-oxoglutarate" EXACT []
xref: UMLS:C4022914
is_a: HP:0012401 ! Abnormal urine alpha-ketoglutarate concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-09T03:49:45Z

[Term]
id: HP:0012404
name: Abnormal urine citrate concentration
def: "A deviation from normal of the concentration of citrate(3-) in the urine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal urine citrate concentration" EXACT layperson []
synonym: "Abnormal urine citric acid concentration" EXACT []
xref: UMLS:C4022913
is_a: HP:0033354 ! Abnormal urine metabolite level
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-09T03:51:30Z

[Term]
id: HP:0012405
name: Hypocitraturia
def: "A lower than normal concentration of citrate(3-) in the urine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased urine citrate concentration" EXACT []
xref: UMLS:C2673444
is_a: HP:0012404 ! Abnormal urine citrate concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-09T03:54:41Z

[Term]
id: HP:0012406
name: Hypercitraturia
def: "A greater than normal concentration of citrate(3-) in the urine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased urine citrate concentration" EXACT []
xref: UMLS:C4021090
is_a: HP:0012404 ! Abnormal urine citrate concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-09T03:56:26Z

[Term]
id: HP:0012407
name: Scissor gait
def: "A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use." [https://orcid.org/0000-0002-0736-9199]
comment: Scissor gait is a form of gait abnormality primarily associated with spastic cerebral palsy.
synonym: "Scissor gait" EXACT layperson []
synonym: "Scissor walk" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Scissoring gait" EXACT []
synonym: "Scissoring of the lower extremities" EXACT []
synonym: "Scissoring of the lower limbs" EXACT []
synonym: "Scissors gait" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:22090007
xref: UMLS:C0231698
is_a: HP:0031958 ! Spastic paraparetic gait
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-09T04:15:36Z

[Term]
id: HP:0012408
name: Medullary nephrocalcinosis
def: "The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney)." [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:236447005
xref: UMLS:C0403477
is_a: HP:0000121 ! Nephrocalcinosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-10T10:45:27Z

[Term]
id: HP:0012409
name: Cortical nephrocalcinosis
def: "The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla)." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:236446001
xref: UMLS:C0403476
is_a: HP:0000121 ! Nephrocalcinosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-10T11:03:33Z

[Term]
id: HP:0012410
name: Pure red cell aplasia
def: "A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction." [https://orcid.org/0000-0002-0736-9199]
comment: Pure red cell aplasia results from a maturation arrest occurs in the formation of erythrocytes.
synonym: "Red cell aplasia" EXACT []
xref: SNOMEDCT_US:50715003
xref: UMLS:C0034902
is_a: HP:0012131 ! Abnormal number of erythroid precursors
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-10T11:36:59Z

[Term]
id: HP:0012411
name: Premature pubarche
def: "The onset of growth of pubic hair at an earlier age than normal." [https://orcid.org/0000-0002-0736-9199]
synonym: "Premature pubic hair growth" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:237815000
xref: UMLS:C0342541
is_a: HP:0000826 ! Precocious puberty
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-10T11:50:16Z

[Term]
id: HP:0012412
name: Premature adrenarche
def: "Onset of adrenarche at an earlier age than usual." [https://orcid.org/0000-0002-0736-9199]
comment: Adrenarche is an early sexual maturation stage that typically occurs at around 6 to 8 years of age, during which the adrenal cortex begins to secrete increased levels of androgens resulting from the development of the zona reticularis in the adrenal cortex. Note that pubarche refers to the development of pubic hair, axillary hair, and adult sweat gland (apocrine) odor. The physical features associated with pubarche reflect the onset of adrenarche, which refers to the pubertal maturation of the adrenal and is associated with increased secretion of an adrenal hormone called dehydroepiandrosterone sulfate (DHEAS). {xref="PMID:10414639"}
xref: SNOMEDCT_US:103021001
xref: UMLS:C0342546
is_a: HP:0100000 ! Early onset of sexual maturation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-10T11:58:02Z

[Term]
id: HP:0012413
name: Notched primary central incisor
def: "The presence of a V-shaped indentation (notch) in the primary central incisor." [https://orcid.org/0000-0002-0736-9199]
synonym: "Notched front baby tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Notched front deciduous tooth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Notched front primary tooth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Syphilitic primary incisor" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:410500004
xref: SNOMEDCT_US:86443005
xref: UMLS:C0020186
xref: UMLS:C1444627
xref: UMLS:C4022912
is_a: HP:0011063 ! Abnormal incisor morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-10T12:07:34Z

[Term]
id: HP:0012414
name: Duodenal atrophy
def: "Wasting or decrease in size of all or part of the duodenum." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022911
is_a: HP:0002246 ! Abnormal duodenum morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-10T12:20:19Z

[Term]
id: HP:0012415
name: Abnormal blood gas level
def: "An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal blood gas level" EXACT layperson []
xref: SNOMEDCT_US:312391003
xref: UMLS:C0476337
is_a: HP:0002795 ! Abnormal respiratory system physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-10T04:59:20Z

[Term]
id: HP:0012416
name: Hypercapnia
def: "Abnormally elevated blood carbon dioxide (CO2) level." [https://orcid.org/0000-0002-0736-9199]
synonym: "High blood carbon dioxide level" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Hypercarbia" EXACT []
xref: SNOMEDCT_US:29596007
xref: UMLS:C0020440
is_a: HP:0500164 ! Abnormal blood carbon dioxide level
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-10T05:04:49Z

[Term]
id: HP:0012417
name: Hypocapnia
def: "Abnormally reduced blood carbon dioxide (CO2) level." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypocarbia" EXACT [https://en.wikipedia.org/wiki/hypocapnia, https://orcid.org/0000-0001-5208-3432]
synonym: "Reduced carbon dioxide in the blood" EXACT layperson [https://en.wikipedia.org/wiki/hypocapnia, https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:61031008
xref: UMLS:C0085383
is_a: HP:0500164 ! Abnormal blood carbon dioxide level
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-10T05:06:10Z

[Term]
id: HP:0012418
name: Hypoxemia
def: "An abnormally low level of blood oxygen." [https://orcid.org/0000-0002-0736-9199]
comment: Note that hypoxemia is defined as a condition where arterial oxygen tension is below normal (80-100mmHg). Hypoxia is defined as the failure of oxygenation at the tissue level. Hypoxia is not measured directly by a standard laboratory value.
synonym: "Hypoxia" RELATED [https://orcid.org/0000-0001-5208-3432]
synonym: "Low blood oxygen level" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:389087006
xref: UMLS:C0700292
is_a: HP:0500165 ! Abnormal blood oxygen level
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-10T05:07:07Z

[Term]
id: HP:0012419
name: Hyperoxemia
def: "An abnormally high level of blood oxygen." [https://orcid.org/0000-0002-0736-9199]
comment: Note that hyperoxemia is defined as a condition where arterial oxygen tension is above normal (80-100mmHg). Hyperoxia is defined as increased oxygen tension at the tissue level. Hyperoxia is not measured directly by a standard laboratory value.
xref: UMLS:C4022910
is_a: HP:0500165 ! Abnormal blood oxygen level
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-10T05:09:04Z

[Term]
id: HP:0012420
name: Meconium stained amniotic fluid
def: "Amniotic fluid containing the earliest stools of a mammalian infant." [https://orcid.org/0000-0002-0736-9199]
comment: Meconium may be expelled into the amniotic fluid before birth in response to fetal distress. If meconium is aspirated by the fetus, it may lead to meconium aspiration syndrome.
synonym: "Meconium staining of amniotic fluid" EXACT []
synonym: "Meconium-stained amniotic fluid" EXACT []
xref: SNOMEDCT_US:168092006
xref: SNOMEDCT_US:249135009
xref: UMLS:C0426209
is_a: HP:0001560 ! Abnormality of the amniotic fluid
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-10T06:01:40Z

[Term]
id: HP:0012421
name: Congenital absence of foreskin
def: "Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis." [https://orcid.org/0000-0002-0736-9199]
comment: Absence of the foreskin can be accompanied by Cryptorchidism and Hypospadias, which should be coded separately.
synonym: "Absent foreskin" EXACT []
synonym: "Aposthia" EXACT []
xref: SNOMEDCT_US:300519001
xref: UMLS:C0577242
is_a: HP:0100587 ! Abnormal preputium morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-10T06:17:21Z

[Term]
id: HP:0012422
name: Villous hypertrophy of choroid plexus
def: "Overgrowth of the choroid plexus." [https://orcid.org/0000-0002-0736-9199, PMID:16523225]
comment: The most common location for overgrowth is the lateral ventricles. The choroid plexus folds into many villi around capillaries, creating frond-like processes that project into the ventricles. The terms choroid plexus hypertrophy or choroid plexus hyperplasia are used interchangeably to refer to an increase in size of these structures. Diffuse villous hyperplasia of choroid plexus (DVHCP) is a rare condition which is characterized by the presence of diffuse enlargement of the entire choroid plexus throughout the length of the choroidal fissure and overproduction of CSF.
synonym: "Choroid plexus hypertrophy" EXACT []
synonym: "Diffuse villous hypertrophy of choroid plexus" RELATED []
xref: UMLS:C4020728
xref: UMLS:C4021089
is_a: HP:0007376 ! Abnormal choroid plexus morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-11T07:50:37Z

[Term]
id: HP:0012423
name: Colonic inertia
def: "The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days." [https://orcid.org/0000-0002-0736-9199, PMID:23449085]
xref: UMLS:C1257861
is_a: HP:0012700 ! Abnormal large intestine physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-11T08:04:46Z

[Term]
id: HP:0012424
name: Chorioretinitis
def: "An inflammation of the choroid and retina." [https://orcid.org/0000-0001-5208-3432, PMID:16196117]
comment: Chorioretinitis is a form of posterior uveitis. Note that the term Chorioretinitis suggests that the origin of the process is predominantly in the choroid while Retinitis suggests that the process is mainly in the retina.
xref: SNOMEDCT_US:46627006
xref: UMLS:C0008513
is_a: HP:0000532 ! Abnormal chorioretinal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-11T08:10:29Z

[Term]
id: HP:0012425
name: Stercoral ulcer
def: "An ulcer of the colon due to pressure and irritation from retained fecal masses." [https://orcid.org/0000-0001-5208-3432, PMID:7065551]
comment: Stercoral ulceration is the loss of bowel integrity from the pressure effects of inspissated feces. The lesion usually occurs in constipated, bedridden patients and presents as an isolated lesion in the rectosigmoid area.
synonym: "Colon ulcer" BROAD layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Recto-sigmoid colon stercoral ulcer" RELATED []
xref: SNOMEDCT_US:235766003
xref: SNOMEDCT_US:38084005
xref: SNOMEDCT_US:46040000
xref: UMLS:C0267491
xref: UMLS:C0333302
is_a: HP:0002250 ! Abnormal large intestine morphology
is_a: HP:0034274 ! Gastrointestinal ulcer
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-12T10:28:18Z

[Term]
id: HP:0012426
name: Optic disc drusen
def: "Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve." [https://orcid.org/0000-0002-0736-9199, PMID:22787500, PMID:23658477, PMID:30524490]
comment: Optic disc drusen can lead to an elevated disk and thus mimic disk swelling (pseudopapilledema).
synonym: "Optic nerve head drusen" EXACT []
xref: SNOMEDCT_US:33629003
xref: UMLS:C0029128
is_a: HP:0011510 ! Drusen
is_a: HP:0012795 ! Abnormal optic disc morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-12T10:36:06Z

[Term]
id: HP:0012427
name: Increased femoral anteversion
alt_id: HP:0031068
def: "An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward." [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-0736-9199, PMID:32579722]
comment: Femoral neck anteversion (FNA), also called femoral torsion or femoral version, is the angle between the projection of two lines in the axial plane perpendicular to the femoral shaft; one line going through the proximal femoral neck region and the second one through the distal condylar region, indicating the degree of twist of the femur. Excessive femoral anteversion is a common cause of in-toeing that first presents in early childhood. See Figure 1 of PMID:32579722.
synonym: "Excessive femoral anteversion" EXACT []
synonym: "Increased femoral neck anteversion" EXACT []
synonym: "Internally rotated hips" EXACT layperson []
xref: UMLS:C4022909
is_a: HP:0031069 ! Abnormal femoral torsion
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-12T10:51:07Z

[Term]
id: HP:0012428
name: Prominent calcaneus
def: "Protruding heel bone, or calcaneus." [https://orcid.org/0000-0001-5208-3432]
synonym: "Prominent heel bone" EXACT layperson []
xref: UMLS:C4021088
is_a: HP:0008364 ! Abnormality of the calcaneus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-12T11:04:49Z

[Term]
id: HP:0012429
name: Aplasia/Hypoplasia of the cerebral white matter
def: "Absence or underdevelopment of the cerebral white matter." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent/small cerebral white matter" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Absent/underdeveloped cerebral white matter" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021844
is_a: HP:0002500 ! Abnormal cerebral white matter morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-13T07:39:37Z

[Term]
id: HP:0012430
name: Cerebral white matter hypoplasia
def: "Underdevelopment of the cerebral white matter." [https://orcid.org/0000-0002-0736-9199]
synonym: "Paucity of cerebral white matter" RELATED []
xref: UMLS:C4020727
xref: UMLS:C4022908
is_a: HP:0012429 ! Aplasia/Hypoplasia of the cerebral white matter
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-13T07:42:02Z

[Term]
id: HP:0012431
name: Episodic fatigue
def: "Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022907
is_a: HP:0012378 ! Fatigue
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-13T07:45:40Z

[Term]
id: HP:0012432
name: Chronic fatigue
def: "Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer." [https://orcid.org/0000-0001-5208-3432]
comment: Note that chronic fatigue can be a symptom of chronic fatigue syndrome (CFS), which is characterized by profound fatigue that is not improved by bed rest and that may be worsened by physical or mental activity. Symptoms of CFS may include weakness, muscle pain, impaired memory, impaired mental concentration, and insomnia, which can result in reduced participation in daily activities.
synonym: "Chronic extreme exhaustion" EXACT layperson []
synonym: "Chronic fatigue" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C0518656
is_a: HP:0012378 ! Fatigue
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-13T07:49:08Z

[Term]
id: HP:0012433
name: Abnormal social behavior
def: "An abnormality of actions or reactions of a person taking place during interactions with others." []
synonym: "Abnormal social behavior" EXACT layperson [https://orcid.org/0000-0001-9112-5148, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-6670-9157, https://orcid.org/0000-0002-9593-5508]
synonym: "Abnormal social interactions" EXACT [https://orcid.org/0000-0001-9112-5148, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-6670-9157, https://orcid.org/0000-0002-9593-5508]
xref: UMLS:C4020726
xref: UMLS:C4021087
is_a: HP:0000708 ! Atypical behavior
property_value: terms:contributor https://orcid.org/0000-0001-9112-5148
property_value: terms:contributor https://orcid.org/0000-0002-4142-7153
property_value: terms:contributor https://orcid.org/0000-0002-6670-9157
property_value: terms:contributor https://orcid.org/0000-0002-9593-5508
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-23T08:37:01Z

[Term]
id: HP:0012434
name: Delayed early-childhood social milestone development
def: "A failure to meet one or more age-related milestones of social behavior." []
comment: This term may be applied to describe a child whose social development is delayed compared to age-related norms. For instance, at the age of three months, a child smiles in response to social interaction;. aAt the age of seven months, a child responds to the facial expressions of others;. aAnd at the age of 12 months, a child is shy around strangers.
synonym: "Delayed milestone development" EXACT []
synonym: "Delayed social development" EXACT layperson []
xref: UMLS:C4022906
is_a: HP:0012758 ! Neurodevelopmental delay
is_a: HP:0025732 ! Abnormal social development
property_value: terms:contributor https://orcid.org/0000-0001-5395-5036
property_value: terms:contributor https://orcid.org/0000-0001-6886-767X
property_value: terms:contributor https://orcid.org/0000-0001-8423-2623
property_value: terms:contributor https://orcid.org/0000-0001-9114-8737
property_value: terms:contributor https://orcid.org/0000-0002-0375-6247
property_value: terms:contributor https://orcid.org/0000-0002-2414-5605
property_value: terms:contributor https://orcid.org/0000-0002-4487-3589
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-23T08:40:29Z

[Term]
id: HP:0012435
name: Ventral shortening of foreskin
def: "Reduction in length of the ventral (lower) skin of prepuce of penis." [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4022905
is_a: HP:0100587 ! Abnormal preputium morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-23T08:45:20Z

[Term]
id: HP:0012436
name: Nonocclusive coronary artery atherosclerosis
def: "Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries." [https://orcid.org/0000-0001-5208-3432]
synonym: "Non-occlusive coronary artery disease" EXACT []
synonym: "Non-occlusive coronary artery stenosis" RELATED []
synonym: "Nonocclusive coronary artery disease" RELATED []
synonym: "Nonocclusive coronary artery stenosis" RELATED []
xref: UMLS:C4020724
xref: UMLS:C4020725
is_a: HP:0001677 ! Coronary artery atherosclerosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-23T08:50:05Z

[Term]
id: HP:0012437
name: Abnormal gallbladder morphology
def: "A structural anomaly of the gallbladder." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal gallbladder structure" EXACT layperson []
synonym: "Abnormal shape of gallbladder" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4022904
is_a: HP:0005264 ! Abnormality of the gallbladder
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-23T01:13:40Z

[Term]
id: HP:0012438
name: Abnormal gallbladder physiology
def: "A functional anomaly of the gallbladder." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022903
is_a: HP:0005264 ! Abnormality of the gallbladder
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-23T01:17:00Z

[Term]
id: HP:0012439
name: Abnormal biliary tract physiology
def: "A functional abnormality of the biliary tree." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022902
is_a: HP:0001080 ! Biliary tract abnormality
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-23T02:14:51Z

[Term]
id: HP:0012440
name: Abnormal biliary tract morphology
def: "A structural abnormality of the biliary tree." [https://orcid.org/0000-0002-0736-9199]
synonym: "Anomaly of the biliary tract" EXACT []
xref: UMLS:C4021086
is_a: HP:0001080 ! Biliary tract abnormality
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-23T02:15:33Z

[Term]
id: HP:0012441
name: Sphincter of Oddi dyskinesia
def: "Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum." [https://orcid.org/0000-0002-0736-9199]
comment: The sphincter of Oddi (also known as sphincter of ampulla) is a muscular valve that controls the flow of bile and pancreatic juice through the ampulla of Vater into the second part of the duodenum. Increased tone of the sphincter or disturbance in the coordination of contraction of the biliary ducts prevents normal emptying of the biliary tree. This may result in biliary pain, common bile duct dilation and episodes of pancreatitis.
synonym: "Sphincter of Oddi dysfunction" RELATED []
xref: SNOMEDCT_US:430887001
xref: UMLS:C0878588
xref: UMLS:C4048750
is_a: HP:0012396 ! Biliary dyskinesia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-23T02:21:59Z

[Term]
id: HP:0012442
name: Gallbladder dyskinesia
def: "Reduced motility of the gallbladder with reduced emptying fraction." [https://orcid.org/0000-0002-0736-9199, PMID:12095476, PMID:17761125]
comment: Patients with this gallbladder dyskinesia present with biliary-type pain but no evidence of gallstones in the gallbladder. The diagnosis is made by performing a radionuclide investigation of the gallbladder ejection fraction. An abnormal gallbladder ejection fraction has a value less than 40 percent.
xref: UMLS:C1449631
is_a: HP:0012396 ! Biliary dyskinesia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-23T02:28:07Z

[Term]
id: HP:0012443
name: Abnormal brain morphology
def: "A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal shape of brain" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of brain morphology" EXACT []
synonym: "Abnormality of the brain" EXACT layperson []
xref: UMLS:C4021085
is_a: HP:0002011 ! Morphological central nervous system abnormality
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-23T02:38:00Z

[Term]
id: HP:0012444
name: Brain atrophy
def: "Partial or complete wasting (loss) of brain tissue that was once present." [https://orcid.org/0000-0002-0736-9199]
synonym: "Brain degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Brain wasting" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:278849000
xref: SNOMEDCT_US:418143002
xref: SNOMEDCT_US:52522001
xref: UMLS:C0154671
xref: UMLS:C0235946
is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system
is_a: HP:0012443 ! Abnormal brain morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-23T02:46:15Z

[Term]
id: HP:0012446
name: Decreased CSF 5-methyltetrahydrofolate concentration
alt_id: HP:0012336
def: "A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cerebral folate deficiency" RELATED []
synonym: "Low CSF 5-methyltetrahydrofolate" EXACT []
synonym: "Reduced CSF 5-methyltetrahydrofolate concentration" EXACT abbreviation []
xref: SNOMEDCT_US:711403001
xref: UMLS:C2751584
xref: UMLS:C4022901
is_a: HP:0012335 ! Abnormality of folate metabolism
is_a: HP:0025454 ! Abnormal CSF metabolite concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-23T03:40:41Z

[Term]
id: HP:0012447
name: Abnormal myelination
def: "Any anomaly in the process by which myelin sheaths are formed and maintained around neurons." [https://orcid.org/0000-0002-0736-9199, MP:0000920]
xref: UMLS:C1857704
is_a: HP:0012639 ! Abnormal nervous system morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-23T03:45:58Z

[Term]
id: HP:0012448
name: Delayed myelination
def: "Delayed myelination." [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:135810007
xref: UMLS:C1277241
is_a: HP:0012447 ! Abnormal myelination
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-23T03:47:56Z

[Term]
id: HP:0012449
name: Sacroiliac joint synovitis
def: "Inflammation of the synovial membrane of the sacroiliac joint." [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4022900
is_a: HP:0100781 ! Abnormal sacroiliac joint morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-23T03:54:32Z

[Term]
id: HP:0012450
name: Chronic constipation
def: "Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation." [https://orcid.org/0000-0001-5208-3432]
synonym: "Chronic constipation" EXACT layperson []
synonym: "Infrequent bowel movements" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:236069009
xref: UMLS:C0401149
is_a: HP:0002019 ! Constipation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-23T04:03:43Z

[Term]
id: HP:0012451
name: Acute constipation
def: "Constipation of sudden onset and lasting for less than three months." [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:197119006
xref: UMLS:C0401148
is_a: HP:0002019 ! Constipation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-23T04:06:37Z

[Term]
id: HP:0012452
name: Restless legs
def: "Restless Leg Syndrome (RLS) is a condition characterized by an uncomfortable and restless sensation in the legs that occurs after going to bed, often leading to insomnia." [PMID:28613628, PMID:34732752, PMID:35808955]
comment: Restless legs syndrome is a disorder characterized by aching or burning sensations in the legs that occur prior to sleep or may awaken the affected individuals. Complying with an irresistible urge to move the affected limbs brings temporary relief. Sleep may become disrupted, resulting in excessive daytime hypersomnolence.
synonym: "Ekbom syndrome" RELATED []
synonym: "Restless legs syndrome" EXACT []
synonym: "Tachyathetosis" EXACT []
synonym: "Willis-Ekbom disease" RELATED layperson []
synonym: "Wittmaack-Ekbom syndrome" RELATED []
xref: SNOMEDCT_US:32914008
xref: UMLS:C0035258
is_a: HP:0031943 ! Akathisia
is_a: HP:5200300 ! Abnormal movement during sleep
property_value: terms:contributor https://orcid.org/0000-0001-6262-8264
property_value: terms:contributor https://orcid.org/0000-0001-9446-5121
property_value: terms:contributor https://orcid.org/0000-0002-1592-0825
property_value: terms:contributor https://orcid.org/0000-0002-4672-4923
property_value: terms:contributor https://orcid.org/0000-0002-5554-6946
property_value: terms:contributor https://orcid.org/0000-0002-7367-663X
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-23T07:42:59Z

[Term]
id: HP:0012453
name: Bilateral wrist flexion contracture
def: "A chronic loss of wrist joint motion on the right and left sides." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bilateral wrist contracture" RELATED []
xref: UMLS:C4020723
xref: UMLS:C4022899
is_a: HP:0001239 ! Wrist flexion contracture
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-23T07:58:50Z

[Term]
id: HP:0012454
name: Unilateral wrist flexion contracture
def: "A chronic loss of wrist joint motion on one side only." [https://orcid.org/0000-0002-0736-9199]
synonym: "Unilateral wrist contracture" RELATED []
xref: UMLS:C4020722
xref: UMLS:C4022898
is_a: HP:0001239 ! Wrist flexion contracture
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-23T07:59:39Z

[Term]
id: HP:0012455
name: obsolete Large artery calcification
is_obsolete: true
replaced_by: HP:0003207

[Term]
id: HP:0012456
name: Medial arterial calcification
def: "Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries." [https://orcid.org/0000-0002-0736-9199]
comment: Medial arterial calcification causes stiffening and decreased compliance of the affected arteries.
xref: UMLS:C4022896
is_a: HP:0003207 ! Arterial calcification
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-24T10:50:45Z

[Term]
id: HP:0012457
name: Medial calcification of medium-sized arteries
def: "Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries." [https://orcid.org/0000-0002-0736-9199]
comment: GitHub issue: https://github.com/obophenotype/human-phenotype-ontology/issues/6877
xref: UMLS:C4022895
is_a: HP:0012456 ! Medial arterial calcification
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-24T11:11:13Z

[Term]
id: HP:0012458
name: Medial calcification of small arteries
def: "Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries." [https://orcid.org/0000-0002-0736-9199]
comment: The general construction of small arteries is very similar to that of muscular arteries. The media is still muscular and has up to 8-10 layers of smooth muscle cells. A discussion on the logical definition can be found here: https://github.com/obophenotype/human-phenotype-ontology/issues/6877.
xref: UMLS:C4022894
is_a: HP:0012456 ! Medial arterial calcification
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-24T11:13:13Z

[Term]
id: HP:0012459
name: Hypnic headache
def: "A headache disorder that occurs exclusively at night, waking the affected individual from sleep." [https://orcid.org/0000-0002-0736-9199, PMID:20585827, PMID:23832130]
comment: Hypnic headache can be unilateral or bilateral, and is often but not always described as throbbing. The pain begins abruptly and can last from 15 minutes to 6 hours, although typically it is about 30-60 minutes.
synonym: "Alarm clock headache" EXACT layperson []
xref: SNOMEDCT_US:122711000119109
xref: UMLS:C0752150
is_a: HP:0002315 ! Headache
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-24T11:20:18Z

[Term]
id: HP:0012460
name: Dysmorphic inferior cerebellar vermis
def: "A structural anomaly of the inferior portion of the vermis of cerebellum." [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4022893
is_a: HP:0002334 ! Abnormal cerebellar vermis morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-24T11:59:06Z

[Term]
id: HP:0012461
name: Bacteriuria
def: "The presence of bacteria in the urine." [https://orcid.org/0000-0001-5208-3432]
comment: The urine is normally bacteria-free. The term refers to bacteria from the urinary tract and not to bacteria found in the urine because of contamination from the surrounding tissues. Significant bacteriuria is a sign of urinary tract infection.
synonym: "Bacteria in urine" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "High urine bacteria" EXACT layperson []
xref: SNOMEDCT_US:61373006
xref: UMLS:C0004659
is_a: HP:0003110 ! Abnormality of urine homeostasis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-24T12:15:47Z

[Term]
id: HP:0012462
name: Chin myoclonus
def: "Involuntary and irregular twitches of the chin." [https://orcid.org/0000-0002-0736-9199, PMID:16816905]
synonym: "Chin spasms" RELATED []
synonym: "Geniospasm" EXACT []
xref: UMLS:C1860972
is_a: HP:0001336 ! Myoclonus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-24T12:26:38Z

[Term]
id: HP:0012463
name: Elevated transferrin saturation
def: "An above normal level of saturation of serum transferrin with iron." [https://orcid.org/0000-0002-0736-9199]
comment: Transferrins are iron-binding blood plasma glycoproteins that control the level of free iron in biological fluids. The transferrin saturation test (TSAT) refers to the ratio of serum iron to total iron-binding capacity, expressed as a percentage. Transferrin saturations of less than 20% indicate iron deficiency, while transferrin saturations of more than 50% suggest iron overload. Note that the results of the TSAT can be influenced by inflammation.
xref: UMLS:C4022892
is_a: HP:0040135 ! Abnormal transferrin saturation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-24T12:46:56Z

[Term]
id: HP:0012464
name: Decreased transferrin saturation
def: "A below normal level of saturation of serum transferrin with iron." [https://orcid.org/0000-0002-0736-9199]
comment: Transferrins are iron-binding blood plasma glycoproteins that control the level of free iron in biological fluids. The transferrin saturation test (TSAT) refers to the ratio of serum iron to total iron-binding capacity, expressed as a percentage. Transferrin saturations of less than 20% indicate iron deficiency, while transferrin saturations of more than 50% suggest iron overload. Note that the results of the TSAT can be influenced by inflammation.
xref: UMLS:C0919785
is_a: HP:0040135 ! Abnormal transferrin saturation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-24T12:51:51Z

[Term]
id: HP:0012465
name: Elevated hepatic iron concentration
def: "An increased level of iron in liver tissues." [https://orcid.org/0000-0002-0736-9199, PMID:10922422, PMID:14668426]
comment: This abnormality can be measured by liver biopsy or by hepatic magnetic resonance imaging.
synonym: "Increased iron concentration in liver" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Increased liver iron level" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C4022891
is_a: HP:0040134 ! Abnormal hepatic iron concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-24T12:54:57Z

[Term]
id: HP:0012466
name: Chronic respiratory acidosis
def: "Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq/L)." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:8764008
xref: UMLS:C0268048
is_a: HP:0005972 ! Respiratory acidosis
is_a: HP:0012468 ! Chronic acidosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-24T01:11:15Z

[Term]
id: HP:0012467
name: Acute respiratory acidosis
def: "Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35)." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:70644008
xref: UMLS:C0268047
is_a: HP:0005972 ! Respiratory acidosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-24T01:11:51Z

[Term]
id: HP:0012468
name: Chronic acidosis
def: "Longstanding abnormal acid accumulation or depletion of base." [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1735903
is_a: HP:0001941 ! Acidosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-24T01:16:31Z

[Term]
id: HP:0012469
name: Infantile spasms
def: "Infantile spasms represent a subset of \"epileptic spasms\". Infantile Spasms are epileptic spasms starting in the first year of life (infancy)." [https://orcid.org/0000-0001-8486-0558]
xref: UMLS:C3887898
is_a: HP:0011097 ! Epileptic spasm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-26T05:36:45Z

[Term]
id: HP:0012470
name: Setting-sun eye phenomenon
def: "An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid." [https://orcid.org/0000-0002-0736-9199, PMID:17030938]
comment: Setting-sun eye phenomenon can also be transiently elicited in healthy infants up to 7 months of age by changes of position or removal of light (benign setting-sun phenomenon). When persistent, this sign is one of the most frequent markers of elevated intracranial pressure.
synonym: "Eyes fixed downward" RELATED layperson []
synonym: "Setting-sun eye phenomenon" EXACT layperson []
synonym: "Sun setting eyes" EXACT layperson []
synonym: "Sunsetting eye" EXACT layperson []
xref: SNOMEDCT_US:63342001
xref: UMLS:C0423128
xref: UMLS:C4020721
is_a: HP:0000597 ! Ophthalmoparesis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-26T05:40:01Z

[Term]
id: HP:0012471
name: Thick vermilion border
def: "Increased width of the skin of vermilion border region of upper lip." [https://orcid.org/0000-0002-0736-9199]
synonym: "Full lips" EXACT layperson []
synonym: "Increased volume of lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased volume of lip vermillion" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Plump lips" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Prominent lips" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
synonym: "Thick lips" EXACT layperson []
xref: UMLS:C1836543
is_a: HP:0000159 ! Abnormal lip morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-26T09:07:51Z

[Term]
id: HP:0012472
name: Eclabion
def: "A turning outward of the lip or lips, that is, eversion of the lips." [https://orcid.org/0000-0002-0736-9199]
synonym: "Eclabium" EXACT []
synonym: "Everted lips" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Outward turned lips" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C3550430
is_a: HP:0000159 ! Abnormal lip morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-26T10:20:23Z

[Term]
id: HP:0012473
name: Tongue atrophy
def: "Wasting of the tongue." [https://orcid.org/0000-0001-5208-3432]
synonym: "Atrophy of the tongue" EXACT []
synonym: "Lingual atrophy" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Lingual wasting" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Wasting of the tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:249382006
xref: SNOMEDCT_US:50805004
xref: UMLS:C0241423
xref: UMLS:C0426494
is_a: HP:0030809 ! Abnormal tongue morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-26T10:32:31Z

[Term]
id: HP:0012474
name: Carotid artery occlusion
def: "Complete obstruction of a carotid artery." [https://orcid.org/0000-0001-5208-3432]
comment: Carotid artery occlusion is usually caused by caused by atherosclerosis.
synonym: "Obstructed carotid artery" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:266254007
xref: SNOMEDCT_US:69798007
xref: UMLS:C0265101
is_a: HP:0005344 ! Abnormal carotid artery morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-27T10:11:40Z

[Term]
id: HP:0012475
name: Decreased circulating level of specific antibody
def: "The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against a specific antigen or microorganism." [https://orcid.org/0000-0002-0736-9199, PMID:17100769]
synonym: "Abnormal specific antibody response" EXACT []
synonym: "Decreased specific antibody in blood" EXACT []
synonym: "Specific antibody deficiency" EXACT []
xref: SNOMEDCT_US:234556002
xref: UMLS:C0398711
is_a: HP:0004313 ! Decreased circulating immunoglobulin concentration
is_a: HP:0031404 ! Impaired antigen-specific response
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-27T10:21:15Z

[Term]
id: HP:0012476
name: Decreased specific pneumococcal antibody level
def: "The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci." [https://orcid.org/0000-0002-0736-9199]
synonym: "Low pneumococcal antibody titer" EXACT []
synonym: "Specific pneumococcal antibody deficiency" EXACT []
xref: UMLS:C4022890
is_a: HP:0012475 ! Decreased circulating level of specific antibody
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-27T10:28:04Z

[Term]
id: HP:0012477
name: Vocal tremor
def: "A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability." [https://orcid.org/0000-0002-0736-9199, PMID:22505778]
synonym: "Shakey voice" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Vocal tremor" EXACT layperson []
xref: UMLS:C4022889
is_a: HP:0002345 ! Action tremor
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-28T07:11:37Z

[Term]
id: HP:0012478
name: Temporomandibular joint ankylosis
alt_id: HP:0040263
def: "Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening." [https://orcid.org/0000-0001-5208-3432]
synonym: "Adhesion of the temporomandibular joint" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Ankylosis of temporomandibular joint" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Freezing of jaw joint" EXACT layperson []
synonym: "Freezing of the temporomandibular joint" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Jaw ankylosis" EXACT []
synonym: "Rigidity of the temporomandibular joint" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Temporomandibular joint fusion" EXACT []
xref: SNOMEDCT_US:298231004
xref: SNOMEDCT_US:50603008
xref: SNOMEDCT_US:91866004
xref: UMLS:C0575010
xref: UMLS:C0685924
xref: UMLS:C2931375
is_a: HP:0010754 ! Abnormality of the temporomandibular joint
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-28T07:24:24Z

[Term]
id: HP:0012479
name: Temporomandibular joint crepitus
def: "Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound." [https://orcid.org/0000-0002-0736-9199]
synonym: "Jaw joint clicking sound" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Jaw joint crepitus" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Jaw joint grating sound" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Jaw joint noise" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Jaw joint popping sound" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Jaw joint sounds" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Temporomandibular joint clicking sound" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Temporomandibular joint grating sound" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Temporomandibular joint noise" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Temporomandibular joint popping sound" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Temporomandibular joint sounds" BROAD [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:298377005
xref: UMLS:C0575154
xref: UMLS:C4280313
xref: UMLS:C4280314
xref: UMLS:C4280315
is_a: HP:0010754 ! Abnormality of the temporomandibular joint
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-28T07:28:13Z

[Term]
id: HP:0012480
name: Abnormal cerebral vein morphology
def: "An anomaly of cerebral veins." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of cerebral veins" EXACT []
xref: UMLS:C4022888
is_a: HP:0100659 ! Abnormal cerebral vascular morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-28T08:01:32Z

[Term]
id: HP:0012481
name: Cerebral venous angioma
def: "A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system." [https://orcid.org/0000-0002-0736-9199, PMID:8770251]
comment: DVA is characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system.
synonym: "Developmental Venous Anomaly" EXACT []
xref: UMLS:C1956261
is_a: HP:0012480 ! Abnormal cerebral vein morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-28T08:03:08Z

[Term]
id: HP:0012482
name: Frontal venous angioma
def: "A venous angioma of the frontal lobe of the brain." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022887
is_a: HP:0012481 ! Cerebral venous angioma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-28T08:12:07Z

[Term]
id: HP:0012483
name: Abnormal alpha granules
def: "Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury." [https://orcid.org/0000-0002-7744-1790, PMID:8467233]
comment: This feature can be observed by electron microscopy. Alpha granules normally contain a number of proteins including von Willebrand factor, and fibrinogen.
xref: UMLS:C4022886
is_a: HP:0011883 ! Abnormal platelet granules
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-29T07:44:49Z

[Term]
id: HP:0012484
name: Abnormal dense granules
def: "Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin." [https://orcid.org/0000-0002-7744-1790]
comment: This feature can be observed by electron microscopy.
xref: UMLS:C4022885
is_a: HP:0011883 ! Abnormal platelet granules
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-29T07:48:08Z

[Term]
id: HP:0012485
name: Abnormal surface-connected open canalicular system
def: "An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction." [https://orcid.org/0000-0002-0736-9199, PMID:1760557]
xref: UMLS:C4021840
is_a: HP:0011875 ! Abnormal platelet morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-29T07:55:15Z

[Term]
id: HP:0012486
name: Myelitis
def: "Inflammation of the spinal cord." [https://orcid.org/0000-0002-0736-9199]
synonym: "Inflammation of spinal cord" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:41370002
xref: UMLS:C0026975
is_a: HP:0002143 ! Abnormal spinal cord morphology
is_a: HP:0033429 ! Neuroinflammation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-29T08:10:12Z

[Term]
id: HP:0012487
name: Cerebellopontine angle arachnoid cyst
def: "An arachnoid cyst located at the margin of the cerebellum and pons." [https://orcid.org/0000-0001-5208-3432]
comment: The cerebellopontine angle is in the posterior fossa.
xref: UMLS:C4022884
is_a: HP:0007291 ! Posterior fossa cyst
is_a: HP:0100702 ! Arachnoid cyst
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-29T09:03:39Z

[Term]
id: HP:0012488
name: Intraventricular arachnoid cyst
def: "An arachnoid cyst located within the ventricular system." [https://orcid.org/0000-0002-0736-9199, PMID:8951893]
comment: Arachnoid cysts very rarely occur within the ventricular system, where no arachnoid tissue exists.
xref: UMLS:C4022883
is_a: HP:0010576 ! Intracranial cystic lesion
is_a: HP:0100702 ! Arachnoid cyst
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-29T09:08:46Z

[Term]
id: HP:0012489
name: Suprasellar arachnoid cyst
def: "An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards." [https://orcid.org/0000-0002-0736-9199, PMID:21586175]
comment: As the cyst increases in size it fills and occludes the third ventricle, and distorts and blocks the aqueduct, which finally results in hydrocephalus.
xref: UMLS:C4022882
is_a: HP:0010576 ! Intracranial cystic lesion
is_a: HP:0100702 ! Arachnoid cyst
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-29T09:11:20Z

[Term]
id: HP:0012490
name: Panniculitis
def: "Inflammation of subcutaneous adipose tissue." [https://orcid.org/0000-0002-0736-9199, PMID:20666823]
comment: Panniculitis most commonly affects the skin and characterized by reddened subcutaneous nodules.
synonym: "Inflammation of adipose tissue" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Inflammation of fat tissue" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:22125009
xref: UMLS:C0030326
is_a: HP:0009124 ! Abnormal adipose tissue morphology
is_a: HP:0012649 ! Increased inflammatory response
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-29T09:28:11Z

[Term]
id: HP:0012491
name: Abnormal dense tubular system
def: "An anomaly of the intracellular membrane complexes known as the dense tubular system." [https://orcid.org/0000-0002-7744-1790, PMID:1322202]
comment: The dense tubular system (DTS) functions to regulate platelet activation by sequestering or releasing calcium, similar to the sarcotubules of skeletal muscle. In resting platelets, the DTS exists as thin elongated membranes. Within 10 seconds of the addition of thrombin, platelets show a major ultrastructural change in their DTS: from the thin elongated form to a rounded vesicular form.
xref: UMLS:C4022881
is_a: HP:0011875 ! Abnormal platelet morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-29T09:35:44Z

[Term]
id: HP:0012492
name: Cerebral artery stenosis
def: "Narrowing or constriction of the inner surface (lumen) of a cerebral artery." [https://orcid.org/0000-0001-5208-3432]
synonym: "Narrowing of a cerebral artery" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C1504438
is_a: HP:0009145 ! Abnormal cerebral artery morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-30T08:00:55Z

[Term]
id: HP:0012493
name: Middle cerebral artery stenosis
def: "Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:21290001000004104
xref: UMLS:C1504568
is_a: HP:0012492 ! Cerebral artery stenosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-30T08:04:27Z

[Term]
id: HP:0012494
name: Anterior cerebral artery stenosis
def: "Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1504567
is_a: HP:0012492 ! Cerebral artery stenosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-30T08:06:15Z

[Term]
id: HP:0012495
name: Posterior cerebral artery stenosis
def: "Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1504569
is_a: HP:0012492 ! Cerebral artery stenosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-30T08:07:04Z

[Term]
id: HP:0012496
name: Reduced maximal inspiratory pressure
def: "A decrease in the maximum amount of negative pressure a person can generate during an inhalation." [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4022880
is_a: HP:0004347 ! Weakness of muscles of respiration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-30T08:24:33Z

[Term]
id: HP:0012497
name: Reduced maximal expiratory pressure
def: "A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration." [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4022879
is_a: HP:0004347 ! Weakness of muscles of respiration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-30T08:28:49Z

[Term]
id: HP:0012498
name: Nuchal cord
def: "A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:302929008
xref: UMLS:C0405124
is_a: HP:0001787 ! Abnormal delivery
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-30T08:32:27Z

[Term]
id: HP:0012499
name: Descending aortic dissection
def: "A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space." [https://orcid.org/0000-0002-0736-9199]
comment: According to the Stanford classification, type B aortic dissection begins beyond brachiocephalic vessels (begins distal to the left subclavian artery).
synonym: "Type B aortic dissection" EXACT []
xref: UMLS:C4022878
is_a: HP:0002647 ! Aortic dissection
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-30T08:44:18Z

[Term]
id: HP:0012500
name: Verrucous papule
def: "A wartlike (with multiple small elevated projections) papule." [https://orcid.org/0000-0002-0736-9199]
synonym: "Papillomatous papule" EXACT []
xref: UMLS:C4022877
is_a: HP:0200034 ! Papule
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-30T09:03:16Z

[Term]
id: HP:0012501
name: Abnormal brainstem white matter morphology
def: "An anomaly of the white matter of brainstem." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the brainstem white matter" EXACT []
xref: UMLS:C4022876
is_a: HP:0002363 ! Abnormal brainstem morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-30T09:19:46Z

[Term]
id: HP:0012502
name: Abnormality of the internal capsule
def: "An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022875
is_a: HP:0002500 ! Abnormal cerebral white matter morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-30T09:29:18Z

[Term]
id: HP:0012503
name: Abnormal pituitary gland morphology
def: "An anomaly of the pituitary gland." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the pituitary gland" EXACT []
synonym: "disorder of pituitary gland" EXACT []
xref: SNOMEDCT_US:399244003
xref: UMLS:C0032002
is_a: HP:0000864 ! Abnormality of the hypothalamus-pituitary axis
is_a: HP:0012443 ! Abnormal brain morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-30T09:34:21Z

[Term]
id: HP:0012504
name: Abnormal size of pituitary gland
def: "A deviation from the normal size of the pituitary gland." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022874
is_a: HP:0012503 ! Abnormal pituitary gland morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-30T09:36:04Z

[Term]
id: HP:0012505
name: Enlarged pituitary gland
def: "An abnormally increased size of the pituitary gland." [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:237718009
xref: UMLS:C0342422
is_a: HP:0012504 ! Abnormal size of pituitary gland
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-30T09:36:45Z

[Term]
id: HP:0012506
name: Small pituitary gland
def: "An abnormally decreased size of the pituitary gland." [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4022873
is_a: HP:0012504 ! Abnormal size of pituitary gland
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-11-30T09:37:34Z

[Term]
id: HP:0012507
name: Weakness of orbicularis oculi muscle
def: "Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid." [https://orcid.org/0000-0002-0736-9199]
synonym: "Weakness of orbicularis oculi muscles" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1839030
is_a: HP:0001324 ! Muscle weakness
is_a: HP:0030319 ! Weakness of facial musculature
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-08T08:12:54Z

[Term]
id: HP:0012508
name: Metamorphopsia
def: "A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:42134006
xref: UMLS:C0271185
is_a: HP:0000504 ! Abnormality of vision
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-08T08:21:46Z

[Term]
id: HP:0012509
name: Reduced thyroxin-binding globulin
def: "An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream." [https://orcid.org/0000-0002-0736-9199]
comment: Thyroxin-binding globulin is known as serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), Entrez Gene ID 6906. Individuals with TBG deficiency are euthyroid.
xref: UMLS:C4022872
is_a: HP:0010876 ! Abnormal circulating protein concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-08T08:25:46Z

[Term]
id: HP:0012510
name: Extra-axial cerebrospinal fluid accumulation
def: "An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space." [https://orcid.org/0000-0002-0736-9199, PMID:22327705, PMID:23838695]
synonym: "Extra-axial CSF accumulation" EXACT abbreviation []
xref: UMLS:C4022871
is_a: HP:0002921 ! Abnormal cerebrospinal fluid morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-08T08:37:34Z

[Term]
id: HP:0012511
name: Temporal optic disc pallor
def: "A pale yellow discoloration of the temporal (lateral) portion of the optic disc." [https://orcid.org/0000-0002-0736-9199, PMID:19668477]
comment: Temporal pallor is seen in conditions that selectively affect the papillo-macular bundle. The word temporal refers to the temporal bone at the side of the head.
xref: SNOMEDCT_US:247220006
xref: UMLS:C0344299
is_a: HP:0000543 ! Optic disc pallor
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-08T08:55:48Z

[Term]
id: HP:0012512
name: Diffuse optic disc pallor
def: "A pale yellow discoloration of the entire optic disc." [https://orcid.org/0000-0002-0736-9199, PMID:19668477]
comment: Temporal pallor is seen in conditions that selectively affect the papillo-macular bundle. The word temporal refers to the temporal bone at the side of the head.
xref: UMLS:C4022870
is_a: HP:0000543 ! Optic disc pallor
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-08T09:02:25Z

[Term]
id: HP:0012513
name: Upper limb pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm." [https://orcid.org/0000-0001-5208-3432]
synonym: "Upper limb pain" EXACT layperson []
xref: SNOMEDCT_US:102556003
xref: UMLS:C0239377
is_a: HP:0009763 ! Limb pain
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-08T09:07:11Z

[Term]
id: HP:0012514
name: Lower limb pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg." [https://orcid.org/0000-0001-5208-3432]
synonym: "Leg pain" EXACT layperson []
synonym: "Lower limb pain" EXACT layperson []
xref: SNOMEDCT_US:10601006
xref: UMLS:C0023222
is_a: HP:0009763 ! Limb pain
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-08T09:10:29Z

[Term]
id: HP:0012515
name: Hip flexor weakness
def: "Reduced ability to flex the femur, that is, to pull the knee upward." [https://orcid.org/0000-0001-5208-3432]
comment: Hip flexion is mediated by multiple muscles including the iliopsoas, the rectus femoris, the sartorius, and several muscles from the medial compartment of thigh.
xref: UMLS:C3279725
is_a: HP:0003749 ! Pelvic girdle muscle weakness
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-08T09:14:34Z

[Term]
id: HP:0012516
name: Tetralogy of Fallot with pulmonary atresia
def: "An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries." [https://orcid.org/0000-0001-5208-3432, PMID:22368654]
comment: Tetralogy of Fallot with Pulmonary Atresia (TOF/PA) is a complex lesion with many different anatomic variants. The primary source of variability in this lesion is in the anatomy of the pulmonary arteries, with the spectrum ranging from well-formed, confluent pulmonary artery branches to completely absent native pulmonary arteries and major aorto-pulmonary collaterals (MAPCA's) providing all the pulmonary blood flow. The majority of cases fall somewhere in between these two ends of the spectrum, with the total pulmonary blood flow provided by a combination of diminutive native pulmonary arteries and multiple MAPCA.
xref: SNOMEDCT_US:253513005
xref: UMLS:C0344882
is_a: HP:0001636 ! Tetralogy of Fallot
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-08T09:44:24Z

[Term]
id: HP:0012517
name: Reduced circulating catalase activity
def: "Activity or concentration of catalase in the blood circulation below the lower limit of normal." [https://orcid.org/0000-0002-0736-9199]
comment: Catalase catalyzes the decomposition of hydrogen peroxide to water and oxygen.
synonym: "Reduced catalase level" EXACT []
xref: UMLS:C4022869
is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-09T06:49:18Z

[Term]
id: HP:0012518
name: Abnormal circle of Willis morphology
def: "An anomaly of the circle of Willis, also known as the cerebral arterial circle." [https://orcid.org/0000-0002-0736-9199]
comment: The circle of Willis is a circulatory anastomosis in the brain comprised of the anterior cerebral arteries, the anterior communicating artery, the internal carotid arteries, the posterior cerebral arteries, and the posterior communicating arteries.
synonym: "Abnormality of the cerebral arterial circle" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4022868
is_a: HP:0009145 ! Abnormal cerebral artery morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-09T07:03:02Z

[Term]
id: HP:0012519
name: Hypoplastic posterior communicating artery
def: "A developmental anomnaly characterized by underdevelopment of the posterior communicating artery." [https://orcid.org/0000-0001-5208-3432]
comment: The posterior communicating arteries connect the internal carotid artery just proximal to its bifurcation into the anterior cerebral artery and middle cerebral artery with the posterior cerebral artery. The posterior communicating artery is part of the circle of Willis.
synonym: "Hypoplastic posterior communicating arteries" RELATED []
xref: UMLS:C4020720
is_a: HP:0031772 ! Abnormal posterior circulating artery morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-09T07:06:12Z

[Term]
id: HP:0012520
name: Dilation of Virchow-Robin spaces
def: "Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery." [https://orcid.org/0000-0001-5208-3432, PMID:17620468, PMID:23867200, PMID:25564639]
comment: Virchow-Robin spaces are commonly seen at magnetic resonance imaging. These perivascular spaces as fluid-filled spaces that follow the typical course of a vessel as it goes through gray or white matter. The spaces have signal intensity similar to that of cerebrospinal fluid (CSF) on all magnetic resonance sequences.
synonym: "Dilated cerebral perivascular spaces" RELATED []
synonym: "Dilated Virchow-Robin spaces" EXACT []
synonym: "Perivascular spaces" EXACT []
xref: UMLS:C1853618
xref: UMLS:C4020719
is_a: HP:0100659 ! Abnormal cerebral vascular morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-09T07:17:47Z

[Term]
id: HP:0012521
name: Optic nerve aplasia
def: "Congenital absence of the optic nerve." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent optic nerve" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Aplastic optic nerve" EXACT []
xref: UMLS:C4021084
is_a: HP:0008058 ! Aplasia/Hypoplasia of the optic nerve
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-12T02:15:31Z

[Term]
id: HP:0012522
name: Spider hemangioma
def: "A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released." [https://orcid.org/0000-0002-0736-9199, PMID:22356347]
comment: Spider hemangiomas are up to a few centimeters in diameter.
xref: UMLS:C4022867
is_a: HP:0100585 ! Telangiectasia of the skin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-14T08:31:15Z

[Term]
id: HP:0012523
name: Oral aversion
def: "Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing)." [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C3665983
is_a: HP:0100738 ! Abnormal eating behavior
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-14T09:18:51Z

[Term]
id: HP:0012524
name: Abnormal platelet shape
def: "A deviation from the normal discoid platelet shape." [https://orcid.org/0000-0002-7744-1790]
xref: UMLS:C4022866
is_a: HP:0011875 ! Abnormal platelet morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-15T08:55:03Z

[Term]
id: HP:0012525
name: Abnormal alpha granule distribution
def: "An anomalous location and arrangement of platelet alpha granules." [https://orcid.org/0000-0002-7744-1790]
xref: UMLS:C4022865
is_a: HP:0012483 ! Abnormal alpha granules
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-15T08:56:17Z

[Term]
id: HP:0012526
name: Absence of alpha granules
def: "A lack of platelet alpha granules. This typically results in the gray appearance of platelets in giemsa stained blood smears." [https://orcid.org/0000-0002-0736-9199, PMID:3877532]
synonym: "Gray platelets" EXACT []
synonym: "Grey platelets" EXACT uk_spelling []
xref: UMLS:C4022864
is_a: HP:0012528 ! Abnormal number of alpha granules
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-15T08:57:46Z

[Term]
id: HP:0012527
name: Abnormal alpha granule content
def: "A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor." [https://orcid.org/0000-0002-0736-9199]
comment: The alpha granules contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor.
xref: UMLS:C4022863
is_a: HP:0012483 ! Abnormal alpha granules
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-15T09:02:48Z

[Term]
id: HP:0012528
name: Abnormal number of alpha granules
def: "A deviation from the normal count of alpha granules per thrombocyte." [https://orcid.org/0000-0002-7744-1790]
xref: UMLS:C4022862
is_a: HP:0012483 ! Abnormal alpha granules
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-15T09:07:34Z

[Term]
id: HP:0012529
name: Abnormal dense granule content
def: "A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated." [https://orcid.org/0000-0002-7744-1790]
xref: UMLS:C4021839
is_a: HP:0012484 ! Abnormal dense granules
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-15T09:12:44Z

[Term]
id: HP:0012530
name: Abnormal number of dense granules
def: "A deviation from the normal count of dense granules per thrombocyte." [https://orcid.org/0000-0002-7744-1790]
xref: UMLS:C4022861
is_a: HP:0012484 ! Abnormal dense granules
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-15T09:12:55Z

[Term]
id: HP:0012531
name: Pain
def: "An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage." [https://orcid.org/0000-0001-5208-3432]
synonym: "Pain" EXACT layperson []
xref: SNOMEDCT_US:22253000
xref: UMLS:C0030193
is_a: HP:0025142 ! Constitutional symptom
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-15T09:38:08Z

[Term]
id: HP:0012532
name: Chronic pain
def: "Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months." [https://orcid.org/0000-0002-0736-9199, PMID:1875958]
comment: Acute pain is provoked by a specific disease or injury, serves a useful biologic purpose, is associated with skeletal muscle spasm and sympathetic nervous system activation, and is self-limited. Chronic pain, in contrast, may be considered a disease state. It is pain that outlasts the normal time of healing.
synonym: "Chronic pain" EXACT layperson []
synonym: "Long-lasting pain" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:82423001
xref: UMLS:C0150055
is_a: HP:0012531 ! Pain
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-15T09:46:55Z

[Term]
id: HP:0012533
name: Allodynia
def: "Pain due to a stimulus that does not normally provoke pain." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:247404004
xref: UMLS:C0458247
is_a: HP:0012531 ! Pain
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-15T09:47:40Z

[Term]
id: HP:0012534
name: Dysesthesia
alt_id: HP:0031005
def: "Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds." [https://orcid.org/0000-0001-5208-3432]
synonym: "Dysaesthesia" EXACT []
synonym: "Dysesthesias" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Hyperalgesia" EXACT []
synonym: "Hyperpathia" EXACT []
xref: SNOMEDCT_US:279079003
xref: UMLS:C0392699
is_a: HP:0010832 ! Abnormality of pain sensation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-15T09:59:55Z

[Term]
id: HP:0012535
name: Abnormal synaptic transmission
def: "An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process." [https://orcid.org/0000-0002-0736-9199, MP:0003635]
synonym: "Abnormality of neurotransmitter metabolism" EXACT []
xref: UMLS:C4021083
is_a: HP:0012638 ! Abnormal nervous system physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-15T10:12:31Z

[Term]
id: HP:0012536
name: Maternal anticardiolipin antibody positive
def: "The presence of circulating autoantibodies to anticardiolipin in the mother." [https://orcid.org/0000-0001-5208-3432, PMID:1495720, PMID:9722063]
comment: There have been reports of cerebral infarction in a newborns in association with elevated maternal anticardiolipin antibodies.
xref: UMLS:C4022860
is_a: HP:0011437 ! Maternal autoimmune disease
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-15T10:20:51Z

[Term]
id: HP:0012537
name: Food intolerance
def: "A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction." [https://orcid.org/0000-0002-0736-9199]
synonym: "Food intolerance" EXACT layperson []
synonym: "Non-allergic food hypersensitivity" EXACT []
xref: SNOMEDCT_US:235719002
xref: UMLS:C0149696
is_a: HP:0012337 ! Abnormal homeostasis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-15T10:25:19Z

[Term]
id: HP:0012538
name: Gluten intolerance
def: "A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease." [https://orcid.org/0000-0002-0736-9199]
synonym: "Gluten intolerance" EXACT layperson []
synonym: "Gluten sensitivity" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:396331005
xref: SNOMEDCT_US:441831003
xref: UMLS:C0007570
xref: UMLS:C0850024
is_a: HP:0001984 ! Intolerance to protein
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-15T10:31:34Z

[Term]
id: HP:0012539
name: Non-Hodgkin lymphoma
def: "A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:118601006
xref: SNOMEDCT_US:128929007
xref: SNOMEDCT_US:188675007
xref: SNOMEDCT_US:1929004
xref: UMLS:C0024305
is_a: HP:0002665 ! Lymphoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-15T10:45:49Z

[Term]
id: HP:0012540
name: Axillary epidermoid cyst
def: "An epidermoid cyst in the armpit." [https://orcid.org/0000-0001-5208-3432]
synonym: "Armpit cyst" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4022859
is_a: HP:0200040 ! Epidermoid cyst
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-15T10:35:39Z

[Term]
id: HP:0012541
name: Cephalohematoma
def: "Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum." [https://orcid.org/0000-0001-5208-3432]
comment: Cephalohematoma is generally caused by trauma during labor.
synonym: "Cephalohaematoma" EXACT []
xref: SNOMEDCT_US:206200000
xref: SNOMEDCT_US:83095000
xref: UMLS:C0007722
is_a: HP:0001787 ! Abnormal delivery
is_a: HP:0001892 ! Abnormal bleeding
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-15T10:37:57Z

[Term]
id: HP:0012542
name: Onychauxis
def: "Thickened nails without deformity." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:30654002
xref: UMLS:C0263536
is_a: HP:0001805 ! Onychogryphosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-15T10:49:45Z

[Term]
id: HP:0012543
name: Hemosiderinuria
def: "The presence of hemosiderin in the urine." [https://orcid.org/0000-0002-0736-9199]
comment: Hemosiderinuria leads to a brown color of urine. It is a marker of chronic intravascular hemolysis, in which hemoglobin is released from RBCs into the bloodstream in excess of the binding capacity of haptoglobin.
xref: UMLS:C2721579
is_a: HP:0033354 ! Abnormal urine metabolite level
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-21T09:09:38Z

[Term]
id: HP:0012544
name: Elevated circulating aldolase concentration
def: "Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation above the upper limit of normal." [https://orcid.org/0000-0001-5208-3432]
comment: Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate.
synonym: "Elevated aldolase level" EXACT []
xref: UMLS:C4022858
is_a: HP:0012400 ! Abnormal circulating aldolase concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-21T09:18:43Z

[Term]
id: HP:0012545
name: Reduced circulating aldolase concentration
def: "Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation below the lower limit of normal." [https://orcid.org/0000-0001-5208-3432]
comment: Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate.
synonym: "Reduced aldolase level" EXACT []
xref: UMLS:C4022857
is_a: HP:0012400 ! Abnormal circulating aldolase concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-21T09:20:49Z

[Term]
id: HP:0012546
name: Skewed maternal X inactivation
def: "A deviation from equal (50%) inactivation of each parental X chromosome in maternal cells." [https://orcid.org/0000-0002-0736-9199, PMID:18097476]
comment: X chromosome inactivation (XCI) is the process by which one of the two copies of the X chromosome present in females is inactivated in order to achieves dosage equivalency for X-linked genes between XY males and XX females. An individual cell's decision to inactivate either the paternal or maternal X is made early in development, at approximately the time of implantation, such that normally there is a roughly equal distribution of either X being active. A deviation from equality is known as skewing, with common criteria for "skewed" inactivation being arbitrarily defined as the observation of inactivation of the same allele in 75% or 80% of cells (and very skewed inactivation resulting in 90% or 95% of cells with the same allele inactive). For some X-linked diseases there is strong selection in the heterozygous carrier in favor of cells bearing the mutation on the silenced inactive X, and thus, assessment of XCI skewing in female family members can be suggestive of carrier status.
xref: UMLS:C4022856
is_a: HP:0002686 ! Pregnancy history
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-21T09:22:57Z

[Term]
id: HP:0012547
name: Abnormal involuntary eye movements
def: "Anomalous movements of the eyes that occur without the subject wanting them to happen." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022855
is_a: HP:0000496 ! Abnormality of eye movement
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2013-12-21T10:37:42Z

[Term]
id: HP:0012548
name: Fatty replacement of skeletal muscle
def: "Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers" [https://orcid.org/0000-0001-9046-3540, https://orcid.org/0000-0002-0736-9199]
comment: Fatty infiltration of muscle tissue can be observed on muscle biopsy as well as through imaging by computed tomography and magnetic resonance tomography.
synonym: "Skeletal muscle fatty infiltration" EXACT []
xref: UMLS:C4021082
is_a: HP:0011805 ! Abnormal skeletal muscle morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-01T03:03:05Z

[Term]
id: HP:0012549
name: Conjunctival lipoma
def: "A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva." [https://orcid.org/0000-0002-0736-9199]
comment: Conjunctival lipoma displays yellowish-pink stromal mass, histologically with large lipid vacuoles surrounded by stellate cells.
xref: NCIT:C3192
xref: UMLS:C4022854
is_a: HP:0000502 ! Abnormal conjunctiva morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-01T03:13:56Z

[Term]
id: HP:0012550
name: Colonic varices
def: "The presence of varices (enlarged and convoluted blood vessels) in the colon." [https://orcid.org/0000-0002-0736-9199, PMID:16688816]
comment: Colonic varices are a rare cause of lower gastrointestinal bleeding, most commonly associated with portal hypertension and more rarely with congestive heart failure, mesenteric vein thrombosis, pancreatitis with splenic vein thrombosis and adhesions, and mesenteric vein compression. Colonic varices are usually located in the rectosigmoid region and the cecum.
xref: UMLS:C4022853
is_a: HP:0002250 ! Abnormal large intestine morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-01T03:54:41Z

[Term]
id: HP:0012551
name: Absent neutrophil specific granules
def: "Lack of specific granules in neutrophils." [https://orcid.org/0000-0002-0736-9199, PMID:6155073]
comment: Neutrophil polymorphonuclear leukocytes (PMNs) contain two principal types of granules. Azurophil granules appear early in neutrophil development and contain lysosomal enzymes, lysozyme, and myeloperoxidase (MPO). Specific granules are formed later, lack MPO and hydrolases, but contain lactoferrin and the remainder of the cell's complement of lysozyme. Consequently, specific granules may be conveniently detected at the electron-microscopic (EM) level by the cytochemical demonstration of their lack of MPO, while at the optical level their presence can be inferred from their positive immunocytochemical staining for lactoferrin with the use of specific antiserums.
xref: UMLS:C4022852
is_a: HP:0011992 ! Abnormal neutrophil morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-01T03:32:09Z

[Term]
id: HP:0012552
name: Increased neutrophil nuclear projections
def: "Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022851
is_a: HP:0011992 ! Abnormal neutrophil morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-01T03:41:24Z

[Term]
id: HP:0012553
name: Hypoplastic thumbnail
def: "A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small thumbnail" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Underdeveloped thumbnail" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4022850
is_a: HP:0001804 ! Hypoplastic fingernail
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-04T12:57:28Z

[Term]
id: HP:0012554
name: Absent thumbnail
def: "Absence of thumb nail." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022849
is_a: HP:0001817 ! Absent fingernail
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-04T01:05:52Z

[Term]
id: HP:0012555
name: Absent nail of hallux
def: "Absent nail of big toe." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent big toe nail" EXACT layperson []
synonym: "Absent nail of big toe" EXACT layperson []
xref: UMLS:C4021081
is_a: HP:0001802 ! Absent toenail
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-04T01:06:39Z

[Term]
id: HP:0012556
name: Hyperbeta-alaninemia
def: "Increased concentration of beta-alanine in the blood." [https://orcid.org/0000-0002-0736-9199]
synonym: "High blood beta-alanine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Hyperbetaalaninemia" EXACT []
xref: UMLS:C4021080
is_a: HP:0033109 ! Abnormal circulating non-proteinogenic amino acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-04T01:37:23Z

[Term]
id: HP:0012557
name: EEG with centrotemporal focal spike waves
def: "EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022848
is_a: HP:0011197 ! EEG with focal spike waves
is_a: HP:0033721 ! EEG with centrotemporal epileptiform discharges
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-04T01:43:32Z

[Term]
id: HP:0012558
name: Abnormal T3/T4 ratio
def: "A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal." [https://orcid.org/0000-0002-0736-9199, PMID:16982586]
xref: UMLS:C4022847
is_a: HP:0031508 ! Abnormal circulating thyroid hormone concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-04T01:50:30Z

[Term]
id: HP:0012559
name: Increased T3/T4 ratio
def: "A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022846
is_a: HP:0012558 ! Abnormal T3/T4 ratio
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-04T01:52:59Z

[Term]
id: HP:0012560
name: Decreased T3/T4 ratio
def: "A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022845
is_a: HP:0012558 ! Abnormal T3/T4 ratio
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-04T01:54:13Z

[Term]
id: HP:0012561
name: Unicuspid aortic valve
def: "The presence of an aortic valve with one instead of the normal three cusps (flaps)." [https://orcid.org/0000-0002-0736-9199, PMID:18480095, PMID:20329493]
comment: The aortic valve normally has three cusps (flaps), that is, it is normally tricuspid. Unicuspid aortic valve (UAV) shares many of the features of bicuspid aortic valve, including valvular dysfunction, aortic dilatation, aortic dissection, and dystrophic calcification, although these conditions develop at an earlier age and progress at a faster pace in UAV.
xref: SNOMEDCT_US:253610004
xref: UMLS:C0345001
is_a: HP:0031567 ! Abnormal aortic valve cusp morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-08T08:14:15Z

[Term]
id: HP:0012562
name: Premature epimetaphyseal fusion in hand
def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the hand, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022844
is_a: HP:0010588 ! Premature epimetaphyseal fusion
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-04T02:02:35Z

[Term]
id: HP:0012563
name: Premature epimetaphyseal fusion in foot
def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022843
is_a: HP:0010588 ! Premature epimetaphyseal fusion
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-04T02:05:25Z

[Term]
id: HP:0012564
name: Premature epimetaphyseal fusion in tibia
def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the tibia, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022842
is_a: HP:0010588 ! Premature epimetaphyseal fusion
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-04T02:07:34Z

[Term]
id: HP:0012565
name: Premature epimetaphyseal fusion in fibula
def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4021838
is_a: HP:0010588 ! Premature epimetaphyseal fusion
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-04T02:08:23Z

[Term]
id: HP:0012566
name: Premature epimetaphyseal fusion in radius
def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022841
is_a: HP:0010588 ! Premature epimetaphyseal fusion
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-04T02:09:50Z

[Term]
id: HP:0012567
name: Premature epimetaphyseal fusion in ulna
def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022840
is_a: HP:0010588 ! Premature epimetaphyseal fusion
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-04T02:10:05Z

[Term]
id: HP:0012568
name: Lower eyelid edema
def: "Edema in the region of the Lower eyelid." [https://orcid.org/0000-0001-5208-3432]
synonym: "Cellulitis of lower eyelid" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Fullness of lower eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Lower eyelid oedema" EXACT uk_spelling []
synonym: "Puffiness of lower eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Swelling of lower eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:700327003
xref: UMLS:C2025810
xref: UMLS:C3839997
is_a: HP:0100540 ! Palpebral edema
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-04T02:25:56Z

[Term]
id: HP:0012569
name: Delayed menarche
def: "First period after the age of 15 years." [https://orcid.org/0000-0002-0736-9199]
synonym: "Delayed start of first period" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C0949173
is_a: HP:0000140 ! Abnormality of the menstrual cycle
is_a: HP:0000823 ! Delayed puberty
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-08T08:20:18Z

[Term]
id: HP:0012570
name: Synovial sarcoma
def: "A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities." [https://orcid.org/0000-0002-0736-9199]
comment: Synovial sarcoma is a high-grade tumor that is associated with poor prognosis.
synonym: "Malignant synovioma" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:302851001
xref: SNOMEDCT_US:63211008
xref: UMLS:C0039101
is_a: HP:0030448 ! Soft tissue sarcoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-08T08:47:50Z

[Term]
id: HP:0012571
name: Ureter fissus
def: "A partial duplication of the ureter where the duplicated ureters fuse to a single ureter before their insertion into the bladder." [HPO_CONTRIBUTOR:Eurenomics_ewuehl]
comment: This anomaly is only seen in the presence of renal duplication.
synonym: "Partially duplicated ureter" EXACT []
xref: ICD-10:Q62.5 "Duplication of ureter"
xref: UMLS:C4021079
is_a: HP:0000073 ! Ureteral duplication
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T11:38:41Z

[Term]
id: HP:0012572
name: Ureter duplex
def: "A complete duplication of the ureter, where the duplicated ureters have separate insertions into the bladder." [HPO_CONTRIBUTOR:Eurenomics_fschaefer]
xref: ICD-10:Q62.5 "Duplication of ureter"
xref: SNOMEDCT_US:49496001
xref: UMLS:C0221365
is_a: HP:0000073 ! Ureteral duplication
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T11:42:00Z

[Term]
id: HP:0012573
name: Global proximal tubulopathy
def: "A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022839
is_a: HP:0000114 ! Proximal tubulopathy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T12:27:40Z

[Term]
id: HP:0012574
name: Mesangial hypercellularity
def: "Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain." [HPO_CONTRIBUTOR:Eurenomics_fschaefer, https://orcid.org/0000-0003-2356-950X, PMID:32866505]
comment: See Figure 3a of PMID:32866505.
synonym: "Mesangial proliferation" EXACT []
xref: SNOMEDCT_US:125510009
xref: UMLS:C0545017
is_a: HP:0033231 ! Abnormal glomerular mesangial cellularity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T12:43:25Z

[Term]
id: HP:0012575
name: Abnormal nephron morphology
def: "A structural anomaly of the nephron." [HPO_CONTRIBUTOR:Eurenomics_fschaefer]
synonym: "Abnormality of the nephron" EXACT []
xref: UMLS:C4022838
is_a: HP:0012210 ! Abnormal renal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T12:49:04Z

[Term]
id: HP:0012576
name: Glomerular C3 deposition
def: "The presence of complement 3 deposits in the glomerulus." [HPO_CONTRIBUTOR:Eurenomics_ewuehl]
synonym: "C3 nephropathy" RELATED []
synonym: "Renal C3 deposition" EXACT []
xref: UMLS:C4022837
is_a: HP:0030949 ! Glomerular deposits
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T01:08:21Z

[Term]
id: HP:0012577
name: Thin glomerular basement membrane
def: "Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-2356-950X, PMID:32866505]
comment: This finding is demonstrated on renal biopsy.
xref: UMLS:C3276821
is_a: HP:0033282 ! Abnormal glomerular basement membrane morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T01:21:17Z

[Term]
id: HP:0012578
name: Membranous nephropathy
def: "A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space." [HPO_CONTRIBUTOR:Eurenomics_fschaefer]
synonym: "Membranous glomerulonephritis" EXACT []
xref: SNOMEDCT_US:77182004
xref: UMLS:C0017665
is_a: HP:0000099 ! Glomerulonephritis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T01:22:41Z

[Term]
id: HP:0012579
name: Minimal change glomerulonephritis
def: "The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria." [HPO_CONTRIBUTOR:Eurenomics_fschaefer]
synonym: "Minimal change disease" EXACT []
synonym: "Minimal change nephropathy" EXACT []
xref: SNOMEDCT_US:44785005
xref: UMLS:C0027721
is_a: HP:0000099 ! Glomerulonephritis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T01:26:20Z

[Term]
id: HP:0012580
name: Calcium phosphate nephrolithiasis
def: "The presence of calcium- and phosphate-containing calculi (stones) in the kidneys." [https://orcid.org/0000-0002-0736-9199]
synonym: "Ca phosphate nephrolithiasis" EXACT abbreviation []
synonym: "Ca phosphate urolithiasis" EXACT abbreviation []
synonym: "Ca2+ phosphate nephrolitiasis" EXACT abbreviation []
synonym: "Ca2+ phosphate urolithiasis" EXACT abbreviation []
synonym: "Calcium phosphate urolithiasis" RELATED []
xref: UMLS:C3671880
is_a: HP:0004724 ! Calcium nephrolithiasis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T01:34:27Z

[Term]
id: HP:0012581
name: Simple renal cyst
def: "An isolated cyst of the kidney." [HPO_CONTRIBUTOR:Eurenomics_ewuehl]
synonym: "Simple kidney cyst" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "single cortical cyst" EXACT []
synonym: "Solitary renal cyst" EXACT []
xref: SNOMEDCT_US:77945009
xref: UMLS:C0268800
xref: UMLS:C4022836
is_a: HP:0000107 ! Renal cyst
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T03:06:37Z

[Term]
id: HP:0012582
name: Bilateral renal dysplasia
def: "A bilateral form of developmental dysplasia of the kidney." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:204950001
xref: UMLS:C0431698
is_a: HP:0000110 ! Renal dysplasia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T03:14:35Z

[Term]
id: HP:0012583
name: Unilateral renal hypoplasia
def: "One sided hypoplasia of the kidney." [HPO_CONTRIBUTOR:Eurenomics_fschaefer]
synonym: "Small kidney on one side" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Underdeveloped kidney on one side" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:204948009
xref: UMLS:C0431691
is_a: HP:0000089 ! Renal hypoplasia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T03:15:30Z

[Term]
id: HP:0012584
name: Bilateral renal hypoplasia
def: "Two sided hypoplasia of the kidney." [HPO_CONTRIBUTOR:Eurenomics_fschaefer]
xref: SNOMEDCT_US:268232000
xref: UMLS:C0431692
is_a: HP:0000089 ! Renal hypoplasia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T03:16:03Z

[Term]
id: HP:0012585
name: Renal atrophy
def: "Atrophy of the kidney." [https://orcid.org/0000-0002-0736-9199]
synonym: "Kidney degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:197659005
xref: UMLS:C0341698
is_a: HP:0012210 ! Abnormal renal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T03:21:19Z

[Term]
id: HP:0012586
name: Bilateral renal atrophy
def: "A two-sided form of atrophy of the kidney." [https://orcid.org/0000-0002-0736-9199]
synonym: "Bilateral kidney degeneration" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4022835
is_a: HP:0012585 ! Renal atrophy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T03:21:55Z

[Term]
id: HP:0012587
name: Macroscopic hematuria
def: "Hematuria that is visible upon inspection of the urine." [https://orcid.org/0009-0006-4530-3154]
synonym: "Bloody urine" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Gross hematuria" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:197941005
xref: UMLS:C0473237
is_a: HP:0000790 ! Hematuria
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T03:31:44Z

[Term]
id: HP:0012588
name: Steroid-resistant nephrotic syndrome
def: "A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication." [HPO_CONTRIBUTOR:Eurenomics_ewuehl, https://orcid.org/0000-0002-2234-4248, PMID:29910038]
comment: Genetic studies and biopsy are necessary. Treatment depends on result. Genetic forms are treated symptomatically with ACE-inhibitor or angiotensin receptor blockers. Non-genetic forms are usually treated with calcineurin inhibitors. Prognosis is worse than in SSNS. 50 % progress into end-stage renal disease.
synonym: "SRNS" EXACT abbreviation []
xref: SNOMEDCT_US:236381000
xref: UMLS:C0403397
is_a: HP:0000100 ! Nephrotic syndrome
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T03:47:57Z

[Term]
id: HP:0012589
name: Multidrug-resistant nephrotic syndrome
def: "A form of nephrotic syndrome that does not respond to any immunosuppresive treatment." [HPO_CONTRIBUTOR:Eurenomics_ewuehl]
xref: UMLS:C4022834
is_a: HP:0000100 ! Nephrotic syndrome
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T03:48:49Z

[Term]
id: HP:0012590
name: Abnormal urine output
def: "An abnormal amount of urine production." [HPO_CONTRIBUTOR:Eurenomics_ewuehl]
xref: UMLS:C3693260
is_a: HP:0011036 ! Abnormality of renal excretion
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T03:59:33Z

[Term]
id: HP:0012591
name: Abnormal urinary electrolyte concentration
def: "An abnormality in the concentration of electrolytes in the urine." [PMID:25215103]
synonym: "Urinary electrolyte imbalance" EXACT []
xref: UMLS:C4022833
is_a: HP:0003110 ! Abnormality of urine homeostasis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T05:44:11Z

[Term]
id: HP:0012592
name: Albuminuria
def: "Increased concentration of albumin in the urine." [HPO_CONTRIBUTOR:Eurenomics_fschaefer]
xref: SNOMEDCT_US:274769005
xref: UMLS:C0001925
is_a: HP:0020129 ! Abnormal urine protein level
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T05:49:16Z

[Term]
id: HP:0012593
name: Nephrotic range proteinuria
def: "Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children." [HPO_CONTRIBUTOR:Eurenomics_ewuehl]
xref: SNOMEDCT_US:264867001
xref: UMLS:C0445118
is_a: HP:0000093 ! Proteinuria
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T05:50:21Z

[Term]
id: HP:0012594
name: Moderate albuminuria
def: "The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol)." [HPO_CONTRIBUTOR:Eurenomics_fschaefer, PMID:30571025]
synonym: "High urine albumin levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Microalbuminuria" EXACT []
xref: SNOMEDCT_US:312975006
xref: UMLS:C0730345
xref: UMLS:C1654921
is_a: HP:0012592 ! Albuminuria
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T05:54:41Z

[Term]
id: HP:0012595
name: Mild proteinuria
def: "Mildly increased levels of protein in the urine (150-500 mg per day in adults)." [HPO_CONTRIBUTOR:Eurenomics_eweuehl]
xref: UMLS:C4022832
is_a: HP:0000093 ! Proteinuria
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T05:55:47Z

[Term]
id: HP:0012596
name: Moderate proteinuria
def: "Moderately increased levels of protein in the urine (500-1000 mg per day in adults)." [HPO_CONTRIBUTOR:Eurenomics_fschaefer]
xref: UMLS:C4022831
is_a: HP:0000093 ! Proteinuria
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T05:56:26Z

[Term]
id: HP:0012597
name: Heavy proteinuria
def: "Severely increased levels of protein in the urine (1000-3000 mg per day in adults)." [HPO_CONTRIBUTOR:Eurenomics_ewuehl]
synonym: "Severely high blood protein levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4022830
is_a: HP:0000093 ! Proteinuria
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T05:56:38Z

[Term]
id: HP:0012598
name: Abnormal urine potassium concentration
def: "An abnormal concentration of potassium(1+) in the urine." [HPO_CONTRIBUTOR:Eurenomics_fschaefer]
synonym: "Abnormal urine K concentration" EXACT abbreviation []
xref: UMLS:C4022829
is_a: HP:0012591 ! Abnormal urinary electrolyte concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T06:11:59Z

[Term]
id: HP:0012599
name: Abnormal urine phosphate concentration
def: "An abnormal phosphate concentration in the urine." [HPO_CONTRIBUTOR:Eurenomics_ewuehl]
xref: UMLS:C4022828
is_a: HP:0012591 ! Abnormal urinary electrolyte concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T06:14:49Z

[Term]
id: HP:0012600
name: Abnormal urine chloride concentration
def: "An abnormal concentration of chloride in the urine." [HPO_CONTRIBUTOR:Eurenomics_fschaefer]
synonym: "Abnormal urine Cl concentration" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961]
synonym: "Abnormal urine Cl- concentration" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961]
xref: UMLS:C4022827
is_a: HP:0012591 ! Abnormal urinary electrolyte concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T06:16:24Z

[Term]
id: HP:0012601
name: Hypochloriduria
def: "An decreased concentration of chloride in the urine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased urinary chloride" EXACT []
synonym: "Low urine chloride levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021078
is_a: HP:0012600 ! Abnormal urine chloride concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T06:17:06Z

[Term]
id: HP:0012602
name: Renal chloride wasting
def: "High urine chloride in the presence of hypochloridemia." [HPO_CONTRIBUTOR:Eurenomics_ewuehl]
synonym: "Kidney chloride wasting" EXACT [https://orcid.org/0000-0001-7941-2961]
synonym: "Renal Cl wasting" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961]
synonym: "Renal Cl- wasting" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961]
xref: UMLS:C4022826
is_a: HP:0012600 ! Abnormal urine chloride concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T06:18:11Z

[Term]
id: HP:0012603
name: Abnormal urine sodium concentration
def: "An abnormal concentration of sodium in the urine." [HPO_CONTRIBUTOR:Eurenomics_fschaefer]
synonym: "Abnormal urine Na concentration" EXACT []
synonym: "Abnormal urine Na+ levels" EXACT []
xref: UMLS:C4022825
is_a: HP:0012591 ! Abnormal urinary electrolyte concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T06:19:27Z

[Term]
id: HP:0012604
name: Hyponatriuria
def: "An abnormally decreased sodium concentration in the urine." [HPO_CONTRIBUTOR:Eurenomics_ewuehl]
synonym: "Low urine sodium levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4022824
is_a: HP:0012603 ! Abnormal urine sodium concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T06:22:09Z

[Term]
id: HP:0012605
name: Hypernatriuria
alt_id: HP:0003608
def: "An increased concentration of sodium(1+) in the urine." [HPO_CONTRIBUTOR:Eurenomics_ewuehl]
synonym: "Increased urinary sodium" EXACT []
xref: UMLS:C3671887
is_a: HP:0012603 ! Abnormal urine sodium concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T06:22:44Z

[Term]
id: HP:0012606
name: Renal sodium wasting
def: "An abnormally increased sodium concentration in the urine in the presence of hyponatremia." [HPO_CONTRIBUTOR:Eurenomics_ewuehl]
synonym: "Kidney sodium wasting" EXACT []
synonym: "Renal Na wasting" EXACT abbreviation []
synonym: "Renal Na+ wasting" EXACT abbreviation []
xref: UMLS:C2748576
is_a: HP:0012603 ! Abnormal urine sodium concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-16T06:23:16Z

[Term]
id: HP:0012607
name: Abnormal urine magnesium concentration
def: "An abnormal concentration of magnesium the urine." [HPO_CONTRIBUTOR:Eurenomics_ewuehl]
synonym: "Abnormal urine magnesium concentration" EXACT layperson []
xref: UMLS:C4022823
is_a: HP:0012591 ! Abnormal urinary electrolyte concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-17T11:37:50Z

[Term]
id: HP:0012608
name: Hypermagnesiuria
def: "An increased concentration of magnesium the urine." [HPO_CONTRIBUTOR:Eurenomics_fschaefer]
xref: UMLS:C2673443
is_a: HP:0012607 ! Abnormal urine magnesium concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-17T11:38:51Z

[Term]
id: HP:0012609
name: Hypomagnesiuria
def: "An decreased concentration of magnesium the urine." [HPO_CONTRIBUTOR:Eurenomics_fschaefer]
synonym: "Decreased urine magnesium" EXACT layperson []
synonym: "Low urine magnesium levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C3203528
is_a: HP:0012607 ! Abnormal urine magnesium concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-17T11:39:31Z

[Term]
id: HP:0012610
name: Abnormality of urinary uric acid level
def: "Abnormal amount of urate in the urine." [https://orcid.org/0000-0002-0736-9199]
comment: Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid. Uric acid is the final oxidation product of purine catabolism.
xref: UMLS:C4022822
is_a: HP:6000531 ! Abnormal urinary organic compound level
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-17T11:56:43Z

[Term]
id: HP:0012611
name: obsolete Increased urinary urate
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
is_obsolete: true
replaced_by: HP:0003149
creation_date: 2014-01-17T11:57:29Z

[Term]
id: HP:0012612
name: Abnormal urinary sulfate concentration
def: "Abnormal concentration of sulfate in the urine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal urinary sulphate concentration" EXACT uk_spelling []
xref: UMLS:C4022821
is_a: HP:0033354 ! Abnormal urine metabolite level
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-17T11:58:23Z

[Term]
id: HP:0012613
name: Increased urinary sulfate
def: "Elevated concentration of SO4(2-), i.e., sulfate, in the urine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased urinary sulphate" EXACT uk_spelling []
xref: UMLS:C4022820
is_a: HP:0012612 ! Abnormal urinary sulfate concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-17T11:58:51Z

[Term]
id: HP:0012614
name: Abnormal urine cytology
def: "An anomalous finding in the examination of the urine for cells." [HPO_CONTRIBUTOR:Eurenomics_ewuehl]
xref: SNOMEDCT_US:310439007
xref: UMLS:C0587955
is_a: HP:0003110 ! Abnormality of urine homeostasis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-17T12:01:16Z

[Term]
id: HP:0012615
name: Cylindruria
def: "The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine." [HPO_CONTRIBUTOR:Eurenomics_ewuehl, PMID:26079824]
comment: Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. The casts are suibsequently eliminated via the urine and may be seen by microscopy of the urine sediment. A large number of casts can indicate kidney disease. Urinary casts are composed of Tamm-Horsfall protein, which is a mucoprotein that is secreted by the distal loop of Henle. {xref="PMID:26079824"}
synonym: "Urinary casts" EXACT []
xref: SNOMEDCT_US:5277004
xref: UMLS:C0151990
is_a: HP:0012614 ! Abnormal urine cytology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-17T12:03:19Z

[Term]
id: HP:0012616
name: Leukocyte cylindruria
def: "Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine." [HPO_CONTRIBUTOR:Eurenomics_fschaefer]
synonym: "White blood cell casts" EXACT []
xref: UMLS:C4022819
is_a: HP:0031197 ! Cellular urinary casts
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-17T12:05:08Z

[Term]
id: HP:0012617
name: Erythrocyte cylindruria
def: "Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine." [HPO_CONTRIBUTOR:Eurenomics_fschaefer, PMID:8856231]
synonym: "Red blood cell casts" EXACT []
synonym: "Urinary erythrocyte cast" EXACT []
xref: UMLS:C4022818
is_a: HP:0031197 ! Cellular urinary casts
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-17T12:06:50Z

[Term]
id: HP:0012618
name: Urachal cyst
def: "A cyst located along the allantois canal." [HPO_CONTRIBUTOR:Eurenomics_fschaefer]
xref: SNOMEDCT_US:17234001
xref: UMLS:C0041915
is_a: HP:0010478 ! Abnormality of the urachus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-17T12:15:15Z

[Term]
id: HP:0012619
name: Multiple bladder diverticula
def: "Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder." [HPO_CONTRIBUTOR:Eurenomics_fschaefer]
synonym: "Multiple pouches in bladder wall" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4022817
is_a: HP:0000015 ! Bladder diverticulum
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-17T12:21:05Z

[Term]
id: HP:0012620
name: Cloacal abnormality
def: "A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022816
is_a: HP:0000119 ! Abnormality of the genitourinary system
is_a: HP:0010866 ! Abdominal wall defect
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-17T12:27:06Z

[Term]
id: HP:0012621
name: Persistent cloaca
def: "Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cloacogenic bladder" EXACT []
xref: SNOMEDCT_US:74829002
xref: UMLS:C0266225
is_a: HP:0012620 ! Cloacal abnormality
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-17T12:28:30Z

[Term]
id: HP:0012622
name: Chronic kidney disease
alt_id: HP:0000106
alt_id: HP:0001918
alt_id: HP:0008671
def: "Functional anomaly of the kidney persisting for at least three months." [HPO_CONTRIBUTOR:Eurenomics_ewuehl]
synonym: "Chronic kidney disease" EXACT layperson []
synonym: "CKD" EXACT abbreviation []
synonym: "Loss of renal function" RELATED []
synonym: "Progressive renal failure" RELATED []
synonym: "Progressive renal insufficiency" RELATED []
synonym: "Renal failure, progressive" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Renal insufficiency, progressive" RELATED []
xref: SNOMEDCT_US:709044004
xref: UMLS:C0748318
xref: UMLS:C1561643
is_a: HP:0000083 ! Renal insufficiency
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-17T01:14:52Z

[Term]
id: HP:0012623
name: Stage 1 chronic kidney disease
def: "A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2)." [HPO_CONTRIBUTOR:Eurenomics_fschaefer]
comment: Proteinuria is commonly seen in stage 1 chronic kidney disease.
xref: SNOMEDCT_US:431855005
xref: UMLS:C2316401
is_a: HP:0012622 ! Chronic kidney disease
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-17T01:20:48Z

[Term]
id: HP:0012624
name: Stage 2 chronic kidney disease
def: "A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2)." [HPO_CONTRIBUTOR:Eurenomics_fschaefer]
xref: SNOMEDCT_US:431856006
xref: UMLS:C2316786
is_a: HP:0012622 ! Chronic kidney disease
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-17T01:22:13Z

[Term]
id: HP:0012625
name: Stage 3 chronic kidney disease
def: "A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2)." [HPO_CONTRIBUTOR:Eurenomics_fschaefer]
xref: SNOMEDCT_US:433144002
xref: UMLS:C2316787
is_a: HP:0012622 ! Chronic kidney disease
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-17T01:22:43Z

[Term]
id: HP:0012626
name: Stage 4 chronic kidney disease
def: "A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2)." [HPO_CONTRIBUTOR:Eurenomics_fschaefer]
synonym: "Stage 4 chronic kidney disease" EXACT layperson []
xref: SNOMEDCT_US:431857002
xref: UMLS:C2317473
is_a: HP:0012622 ! Chronic kidney disease
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-17T01:23:43Z

[Term]
id: HP:0012627
name: Pseudoexfoliation
def: "Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor." [https://orcid.org/0000-0002-0736-9199, PMID:23157966]
comment: In the eye, pseudoexfoliation syndrome is characterized by the deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor. PXM can be observed in vivo during slit lamp examination. It appears as 'dandruff-like' material in the anterior chamber or most characteristically on the anterior lens capsule deposited in a double concentric ring pattern. The rings are separated by a clear zone presumably created because of the movement of the iris on the anterior lens surface. The central ring is located at the area of the iris sphincter, while the peripheral ring is only visible after pupil dilation. PXM is also often observed by slit lamp examination at the pupillary margin, on the lens zonules and on the trabecular meshwork. The site of production of this material which is a complex of various glycoproteins is unclear, but PXM can potentially originate from the iris, lens epithelium, ciliary body, or the trabecular meshwork.
xref: UMLS:C4022815
is_a: HP:0004328 ! Abnormal anterior eye segment morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-17T10:50:32Z

[Term]
id: HP:0012628
name: Abnormal suspensory ligament of lens morphology
def: "An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the suspensory ligament of lens" EXACT []
synonym: "Abnormality of zinn's membrane" EXACT [https://en.wikipedia.org/wiki/zonule_of_zinn, https://orcid.org/0000-0001-6908-9849]
synonym: "Ciliary zonule abnormality" EXACT []
synonym: "Zonule of zinn abnormality" EXACT [https://en.wikipedia.org/wiki/zonule_of_zinn, https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4021077
is_a: HP:0004328 ! Abnormal anterior eye segment morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-17T10:59:37Z

[Term]
id: HP:0012629
name: Phakodonesis
def: "Tremulousness (trembling) of the lens of the eye." [https://orcid.org/0000-0002-0736-9199, PMID:5472193]
comment: Phacodonesis results from lesions of some or most of the zonular fibers are broken.
synonym: "Phacodonesis" EXACT []
synonym: "Trembling eye lens" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:116669003
xref: UMLS:C2939415
is_a: HP:0000517 ! Abnormal lens morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-17T11:03:09Z

[Term]
id: HP:0012630
name: Abnormal trabecular meshwork morphology
def: "An anomaly of the trabecular meshwork, which is the porelike structure surrounding the entire circumference of the anterior chamber at the base of the cornea and near the ciliary body. The trabecular mesh work is responsible for draining the aqueous humor into the canal of Schlemm." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the trabecular meshwork" EXACT []
xref: UMLS:C4022814
is_a: HP:0000593 ! Abnormal anterior chamber morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-17T11:12:27Z

[Term]
id: HP:0012631
name: Pigment deposition in the trabecular meshwork
def: "Accumulation of abnormal amounts of pigment within the trabecular meshwork." [https://orcid.org/0000-0002-0736-9199]
comment: Gonioscopy can be used to reveal pigment deposition on the trabecular meshwork.
xref: UMLS:C3805899
is_a: HP:0012630 ! Abnormal trabecular meshwork morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-17T11:15:03Z

[Term]
id: HP:0012632
name: Abnormal intraocular pressure
def: "An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal eye pressure" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Abnormal intraocular pressure" EXACT layperson []
xref: MP:0005257 "Abnormal intraocular pressure"
xref: SNOMEDCT_US:24075007
xref: UMLS:C0520999
is_a: HP:0012373 ! Abnormal eye physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-17T11:20:17Z

[Term]
id: HP:0012633
name: Asymmetry of intraocular pressure
def: "A difference in the amount of intraocular pressure in the right and left eye." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C3805901
is_a: HP:0012632 ! Abnormal intraocular pressure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-17T11:21:18Z

[Term]
id: HP:0012634
name: Iris pigment dispersion
def: "Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor." [https://orcid.org/0000-0002-0736-9199]
comment: These pigment granules can accumulate in the trabucular meshwork and lead to increased intraocular pressure. That is coded separately as HP:001263.
xref: UMLS:C4022813
is_a: HP:0008034 ! Abnormal iris pigmentation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-17T11:30:02Z

[Term]
id: HP:0012635
name: Iris hypoperfusion
def: "Reduction in the amount of blood flow to the iris." [https://orcid.org/0000-0002-0736-9199]
comment: This feature can be diagnosed by iris angiography.
xref: UMLS:C4022812
is_a: HP:0007905 ! Abnormal iris vasculature
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-17T11:41:07Z

[Term]
id: HP:0012636
name: Retinal vein occlusion
def: "Blockage of the retinal vein." [https://orcid.org/0000-0002-0736-9199]
comment: Retinal vein occlusion can lead to edema and ischemia of the retina.
xref: SNOMEDCT_US:46085004
xref: UMLS:C0035328
is_a: HP:0008046 ! Abnormal retinal vascular morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-17T11:43:32Z

[Term]
id: HP:0012637
name: Renal calcium wasting
def: "High urine calcium in the presence of hypocalcemia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Kidney Ca wasting" EXACT layperson []
synonym: "Kidney Ca2+ wasting" EXACT layperson []
synonym: "Kidney calcium wasting" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Renal Ca wasting" EXACT abbreviation []
synonym: "Renal Ca2+ wasting" EXACT abbreviation []
xref: UMLS:C2673441
is_a: HP:0011280 ! Abnormality of urine calcium concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-18T04:46:41Z

[Term]
id: HP:0012638
name: Abnormal nervous system physiology
def: "A functional anomaly of the nervous system." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of nervous system physiology" EXACT []
xref: UMLS:C4022811
is_a: HP:0000707 ! Abnormality of the nervous system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-19T08:02:46Z

[Term]
id: HP:0012639
name: Abnormal nervous system morphology
def: "A structural anomaly of the nervous system." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal shape of nervous system" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormality of nervous system morphology" EXACT []
xref: Fyler:4135
xref: Fyler:4300
xref: UMLS:C4022810
is_a: HP:0000707 ! Abnormality of the nervous system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-19T08:03:08Z

[Term]
id: HP:0012640
name: Abnormality of intracranial pressure
def: "A deviation from the norm of the intracranial pressure." [https://orcid.org/0000-0002-0736-9199]
comment: Intracranial pressure (i.e., the pressure inside the skull) represents the pressure in the brain tissue and in the cerebrospinal fluid (CSF). Deviations from normal are generally identified by measuring the pressure of the CSF.
xref: UMLS:C4022809
is_a: HP:0012638 ! Abnormal nervous system physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-19T08:06:51Z

[Term]
id: HP:0012641
name: Decreased intracranial pressure
def: "A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid." [https://orcid.org/0000-0002-0736-9199]
synonym: "Intracranial hypotension" EXACT []
xref: SNOMEDCT_US:167714004
xref: SNOMEDCT_US:277657001
xref: UMLS:C0456892
is_a: HP:0012640 ! Abnormality of intracranial pressure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-19T08:15:01Z

[Term]
id: HP:0012642
name: Cerebellar agenesis
def: "Cerebellar agenesis is defined by the near complete absence of cerebellar tissue with only remnants of the anterior vermis, flocculus, and/or middle cerebellar peduncles." [https://orcid.org/0000-0002-0736-9199, PMID:20305277, PMID:26331051]
comment: Usually, small remnants of the cerebellum are present; therefore the term subtotal cerebellar agenesis is also used in the literature. A secondary pontine hypoplasia is typically seen. The definition of cerebellar agenesis is based on the morphologic pattern and does not suggest the pathogenesis. Cerebellar agenesis may represent a malformation (e.g., mutations in PTF1A) or a disruption (e.g., hemorrhage that occurs during gestation or in the perinatal period, vascular insufficiency in Chiari II malformation and cerebellar herniation, and as a sequela of prematurity).
xref: UMLS:C4022808
is_a: HP:0007360 ! Aplasia/Hypoplasia of the cerebellum
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-22T08:14:57Z

[Term]
id: HP:0012643
name: Foveal hypopigmentation
def: "Decreased amount of pigmentation in the fovea centralis." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022807
is_a: HP:0030493 ! Abnormality of foveal pigmentation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-22T09:25:34Z

[Term]
id: HP:0012644
name: Increased caudate lactate level
def: "An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging." [https://orcid.org/0000-0002-0736-9199, PMID:23810640]
xref: UMLS:C4022806
is_a: HP:0002339 ! Abnormal caudate nucleus morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-01-28T08:19:22Z

[Term]
id: HP:0012645
name: Enlarged peripheral nerve
def: "Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve." [https://orcid.org/0000-0002-0736-9199]
comment: This feature can be appreciated by imaging studies (magnetic resonancy tomography), by palpation along the axis of a nerve, and by biopsy, and may be caused by axonal swelling or by myelin thickening. The differential diagnosis of enlarged peripheral nerves includes leprosy, hereditary motor and sensory neuropathy type 1 (about 30% of patients), but not type 2 (the axonal form), some other polyneuropathies, neurofibromatosis, and nerve tumors. A good review is available in Practical Neurology, 2003,3:40-45 by Michael Donaghy (no pubmed id).
synonym: "Enlarged peripheral nerves" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C2675074
is_a: HP:0000759 ! Abnormal peripheral nervous system morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-02-01T12:44:16Z

[Term]
id: HP:0012646
name: Retractile testis
def: "A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex." [https://orcid.org/0000-0002-0736-9199, PMID:23061004, PMID:4380054]
synonym: "Retractile testicle" EXACT []
xref: SNOMEDCT_US:21779006
xref: UMLS:C0520578
is_a: HP:0000035 ! Abnormal testis morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-02-01T12:57:41Z

[Term]
id: HP:0012647
name: Abnormal inflammatory response
def: "Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages." [https://orcid.org/0000-0001-9114-8737]
synonym: "Abnormal inflammatory response" EXACT layperson []
xref: UMLS:C4022805
is_a: HP:0010978 ! Abnormality of immune system physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-02-01T01:25:42Z

[Term]
id: HP:0012648
name: Decreased inflammatory response
def: "An abnormal reduction in the inflammatory response to injury or infection." [https://orcid.org/0000-0001-9114-8737]
synonym: "Decreased inflammatory response" EXACT layperson []
xref: UMLS:C4022804
is_a: HP:0012647 ! Abnormal inflammatory response
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-02-01T01:29:24Z

[Term]
id: HP:0012649
name: Increased inflammatory response
def: "A abnormal increase in the inflammatory response to injury or infection." [https://orcid.org/0000-0001-9114-8737]
xref: UMLS:C4022803
is_a: HP:0012647 ! Abnormal inflammatory response
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-02-01T01:29:58Z

[Term]
id: HP:0012650
name: Perisylvian polymicrogyria
alt_id: HP:0007095
def: "Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly." [http://www.wikidata.org/entity/Q90573458, https://orcid.org/0000-0002-0736-9199, PMID:15159468, PMID:20301504]
comment: The Sylvian fissure (also known as the lateral sulcus) separates the frontal and parietal lobes superiorly from the temporal lobe inferiorly.
synonym: "Frontoparietal polymicrogyria" EXACT []
xref: UMLS:C3279675
is_a: HP:0002126 ! Polymicrogyria
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-02-06T07:47:51Z

[Term]
id: HP:0012651
name: Abasia
def: "A severe form of gait ataxia such that an affected person cannot walk at all." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C0877217
is_a: HP:0002066 ! Gait ataxia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-02-06T07:52:50Z

[Term]
id: HP:0012652
name: Exercise-induced asthma
def: "Asthma attacks following exercise." [https://orcid.org/0000-0002-0736-9199]
synonym: "Exercise-induced asthma" EXACT layperson []
xref: SNOMEDCT_US:31387002
xref: UMLS:C0004099
is_a: HP:0002099 ! Asthma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-02-12T10:42:14Z

[Term]
id: HP:0012653
name: Status asthmaticus
def: "Severe asthma unresponsive to repeated courses of beta-agonist therapy such as inhaled albuterol, levalbuterol, or subcutaneous epinephrine." [https://orcid.org/0000-0002-0736-9199, PMID:22794687]
synonym: "Acute severe asthma" EXACT layperson []
xref: SNOMEDCT_US:708090002
xref: UMLS:C0038218
is_a: HP:0002099 ! Asthma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-02-12T10:43:34Z

[Term]
id: HP:0012654
name: Abnormal CSF dopamine concentration
def: "Abnormal concentration of dopamine in the cerebrospinal fluid (CSF)." [https://orcid.org/0000-0001-9114-8737]
synonym: "Abnormal CSF dopamine level" EXACT []
xref: UMLS:C4022802
is_a: HP:0025454 ! Abnormal CSF metabolite concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-02-15T10:35:24Z

[Term]
id: HP:0012655
name: Elevated CSF dopamine concentration
def: "Increased concentration of dopamine in the cerebrospinal fluid (CSF)." [https://orcid.org/0000-0001-9114-8737]
xref: UMLS:C4022801
is_a: HP:0012654 ! Abnormal CSF dopamine concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-02-15T10:36:53Z

[Term]
id: HP:0012656
name: Reduced CSF dopamine concentration
def: "Decreased concentration of dopamine in the cerebrospinal fluid (CSF)." [https://orcid.org/0000-0001-9114-8737]
xref: UMLS:C4022800
is_a: HP:0012654 ! Abnormal CSF dopamine concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-02-15T10:37:27Z

[Term]
id: HP:0012657
name: Abnormal brain positron emission tomography
def: "A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain." [https://orcid.org/0000-0002-0736-9199]
comment: Note that while structural brain anomalies can cause abnormal brain PET scan results, structural abnormalities are detectable by multiple neuroimaging modalities and should be coded using terms from the hierarchy under 'Abnormality of nervous system morphology' (HP:0012639).
synonym: "Abnormal brain PET scan" EXACT abbreviation []
xref: UMLS:C4022799
is_a: HP:0410263 ! Brain imaging abnormality
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-02-15T11:22:18Z

[Term]
id: HP:0012658
name: Abnormal brain FDG positron emission tomography
def: "An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal brain FDG PET scan" EXACT abbreviation []
xref: UMLS:C4022798
is_a: HP:0012657 ! Abnormal brain positron emission tomography
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-02-15T11:29:38Z

[Term]
id: HP:0012659
name: Prefrontal hypometabolism in FDG PET
def: "Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the prefrontal cortex as measured by positron emission tomography (PET) brain scan." [https://orcid.org/0000-0002-0736-9199, PMID:23585882]
comment: Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the prefrontal cortex.
xref: UMLS:C4022797
is_a: HP:0012658 ! Abnormal brain FDG positron emission tomography
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-02-15T11:33:12Z

[Term]
id: HP:0012660
name: Thalamic hypometabolism in FDG PET
def: "Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the thalamus as measured by positron emission tomography (PET) brain scan." [https://orcid.org/0000-0002-0736-9199]
comment: Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the thalamus.
xref: UMLS:C4022796
is_a: HP:0012658 ! Abnormal brain FDG positron emission tomography
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-02-15T11:35:25Z

[Term]
id: HP:0012661
name: Hypothalamic hypometabolism in FDG PET
def: "Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the hypothalamus as measured by positron emission tomography (PET) brain scan." [https://orcid.org/0000-0002-0736-9199]
comment: Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the hypothalamus.
xref: UMLS:C4022795
is_a: HP:0012658 ! Abnormal brain FDG positron emission tomography
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-02-15T11:37:59Z

[Term]
id: HP:0012662
name: Parietal hypometabolism in FDG PET
def: "Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan." [https://orcid.org/0000-0002-0736-9199, PMID:15073255]
comment: Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the parietal cortex.
xref: UMLS:C4022794
is_a: HP:0012658 ! Abnormal brain FDG positron emission tomography
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-02-15T11:45:41Z

[Term]
id: HP:0012663
name: Mildly reduced left ventricular ejection fraction
def: "A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 50 percent, and a mild reduction is defined as 40-49 percent." [https://orcid.org/0000-0002-0736-9199, PMID:16376782, PMID:27206819]
synonym: "Mildly reduced ejection fraction" EXACT []
xref: UMLS:C4022793
is_a: HP:0012664 ! Reduced left ventricular ejection fraction
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-02-15T01:06:28Z

[Term]
id: HP:0012664
name: Reduced left ventricular ejection fraction
def: "A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle." [https://orcid.org/0000-0002-0736-9199]
comment: The normal range is at least 55 percent.
synonym: "Reduced ejection fraction" EXACT []
xref: UMLS:C4022792
is_a: HP:0025169 ! Left ventricular systolic dysfunction
is_a: HP:0034314 ! Abnormal left ventricular ejection fraction
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-02-15T01:03:37Z

[Term]
id: HP:0012665
name: Moderately reduced left ventricular ejection fraction
def: "A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle, defined as a left ventricular ejection fraction of 30-39 percent." [https://orcid.org/0000-0002-0736-9199, PMID:16376782, PMID:27206819, PMID:29083812]
comment: The normal range in adults is over 50 percent, and a moderate reduction can be defined as 30-39 percent.
synonym: "Moderately reduced ejection fraction" EXACT []
xref: UMLS:C4022791
is_a: HP:0012664 ! Reduced left ventricular ejection fraction
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-02-15T01:08:33Z

[Term]
id: HP:0012666
name: Severely reduced left ventricular ejection fraction
def: "A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent." [https://orcid.org/0000-0002-0736-9199, PMID:16376782, PMID:27206819, PMID:29083812]
synonym: "Severely reduced ejection fraction" EXACT []
xref: UMLS:C4022790
is_a: HP:0012664 ! Reduced left ventricular ejection fraction
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-02-15T01:09:02Z

[Term]
id: HP:0012667
name: Regional left ventricular wall motion abnormality
def: "An abnormal motion of a segment of the left ventricle during the cardiac cycle." [https://orcid.org/0000-0002-0736-9199]
comment: This feature can be appreciated using color kinesis, which tracks the motion of the endocardium in real time throughout systole and results in color-encoded images reflecting the magnitude and timing of endocardial motion.
xref: UMLS:C4022789
is_a: HP:0005162 ! Abnormal left ventricular function
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-02-15T01:12:48Z

[Term]
id: HP:0012668
name: Vasovagal syncope
def: "A vasovagal episode or vasovagal syncope is the most common form of reflex syncope. Reflex syncope is a general term used to describe types of syncope resulting from a failure in autoregulation of blood pressure, and ultimately, in cerebral perfusion pressure resulting in transient loss of consciousness. The mechanisms responsible for this are complex and involve both depression of cardiac output as well as a decrease in vascular tone." [PMID:29262088]
synonym: "Neurocardiogenic syncope" EXACT []
synonym: "Reflex syncope" EXACT []
synonym: "Situational syncope" EXACT []
synonym: "Vasovagal episode" EXACT []
xref: SNOMEDCT_US:234167006
xref: SNOMEDCT_US:398652001
xref: SNOMEDCT_US:398665005
xref: UMLS:C0042420
xref: UMLS:C0340854
is_a: HP:0001279 ! Syncope
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-02-15T01:33:13Z

[Term]
id: HP:0012669
name: Carotid sinus syncope
def: "An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion." [https://orcid.org/0000-0002-0736-9199]
comment: Carotid sinus syncope cam be elicited mechanical manipulation of the carotid sinuses (eg, taking pulses in the neck, shaving).
xref: SNOMEDCT_US:51723007
xref: UMLS:C0221046
is_a: HP:0001279 ! Syncope
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-02-15T01:39:14Z

[Term]
id: HP:0012670
name: Orthostatic syncope
def: "Syncope following a quick change in position from lying down to standing." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C0749201
is_a: HP:0001279 ! Syncope
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-02-15T01:41:57Z

[Term]
id: HP:0012671
name: Abulia
def: "Abulia is characterized by difficulty in initiating and sustaining spontaneous movements; the person often appears frozen but will move hesitantly on request. There are frequently substantial reductions in emotional responsiveness, spontaneous speech, and social interaction. The individual appears to be content to remain still and inactive with minimal movement, but moves or reacts hesitantly in response to interactions." []
comment: Abulia is less severe than kinetic mutism and more severe than apathy.
synonym: "Aboulia" EXACT []
xref: UMLS:C0919974
is_a: HP:0000745 ! Abnormal diminished volition
property_value: terms:contributor https://orcid.org/0000-0002-1111-7357
property_value: terms:contributor https://orcid.org/0000-0002-7954-5235
property_value: terms:contributor https://orcid.org/0000-0003-2897-0458
property_value: terms:contributor https://orcid.org/0000-0003-4298-5074
property_value: terms:contributor https://orcid.org/0000-0003-4618-6544
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-02-27T10:48:32Z

[Term]
id: HP:0012672
name: Akinetic mutism
def: "The combined absence of spontaneous movement (akinesia) and speech (mutism). There may be eye movements consistent with visual tracking and the person may remember the events occurring at the time of the experience of stupor." [https://orcid.org/0000-0002-0736-9199]
comment: Akinetic mutism is essentially characterized by a total absence of spontaneous behavior and speech occurring in the presence of preserved visual tracking.
synonym: "Stuporous mutism" EXACT []
xref: SNOMEDCT_US:53333005
xref: UMLS:C0001889
is_a: HP:0000745 ! Abnormal diminished volition
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-02-27T10:50:59Z

[Term]
id: HP:0012673
name: Aplasia of the upper vagina
def: "A failure to develop of the upper vagina." [https://orcid.org/0000-0002-0736-9199]
comment: The female reproductive tract primarily develops from the Mullerian ducts (MD), which form as an invagination of the coelomic epithelium and further develop into the upper two-thirds of the vagina, the uterus and the Fallopian tubes. Complete aplasia of the uterus, cervix, and upper vagina is termed Mullerian aplasia. This term refers to the aplasia of the upper roughly two thirds of the vagina that is characteristic of Mullerian aplasia.
synonym: "Absent upper vagina" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4022788
is_a: HP:0003250 ! Aplasia of the vagina
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-02-27T11:00:26Z

[Term]
id: HP:0012674
name: Aplasia of the lower vagina
def: "A failure to develop of the lower part of the vagina." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent lower vagina" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Agenesis of the lower vagina" EXACT []
xref: SNOMEDCT_US:253834007
xref: UMLS:C0431646
is_a: HP:0003250 ! Aplasia of the vagina
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-02-27T11:09:14Z

[Term]
id: HP:0012675
name: Iron accumulation in brain
def: "An abnormal build up of iron (Fe) in brain tissue." [https://orcid.org/0000-0002-0736-9199]
synonym: "Brain iron deposition" EXACT []
synonym: "Iron accumulation in brain" EXACT layperson []
xref: UMLS:C4021076
is_a: HP:0012443 ! Abnormal brain morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-03-13T07:22:40Z

[Term]
id: HP:0012676
name: Copper accumulation in brain
def: "An anomalous build up of copper (Cu) in the brain." [https://orcid.org/0000-0002-0736-9199]
synonym: "Brain copper accumulation" EXACT []
synonym: "Copper accumulation in brain" EXACT layperson []
xref: UMLS:C4022787
is_a: HP:0012443 ! Abnormal brain morphology
is_a: HP:0032243 ! Abnormal tissue metabolite concentration
creation_date: 2014-03-13T07:28:03Z

[Term]
id: HP:0012677
name: obsolete Iron accumulation in globus pallidus
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
is_obsolete: true
replaced_by: HP:0002454
creation_date: 2014-03-13T07:29:37Z

[Term]
id: HP:0012678
name: Iron accumulation in substantia nigra
def: "An anomalous build up of iron (Fe) in the substantia nigra." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022785
is_a: HP:0012675 ! Iron accumulation in brain
is_a: HP:0045007 ! Abnormal substantia nigra morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-03-13T07:29:54Z

[Term]
id: HP:0012679
name: Widened interpedicular distance
def: "An increase in the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces." [HPO_CONTRIBUTOR:UToronto_htrang]
xref: UMLS:C4022784
is_a: HP:0008438 ! Vertebral arch anomaly
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-22T12:41:17Z

[Term]
id: HP:0012680
name: Abnormality of the pineal gland
def: "An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022783
is_a: HP:0000818 ! Abnormality of the endocrine system
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-22T12:46:36Z

[Term]
id: HP:0012681
name: Abnormal pineal morphology
def: "A structural abnormality of the pineal gland." [HPO_CONTRIBUTOR:UToronto_htrang]
comment: The pineal gland typically measures 7 x 6 x 3mm in size and is located in a groove between the laterally placed thalamic bodies.
synonym: "Abnormality of pineal morphology" EXACT []
xref: UMLS:C4022782
is_a: HP:0012443 ! Abnormal brain morphology
is_a: HP:0012680 ! Abnormality of the pineal gland
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-22T12:50:21Z

[Term]
id: HP:0012682
name: Pineal gland calcification
def: "Accumulation of calcium salts in the pineal gland." [https://orcid.org/0000-0002-0736-9199]
comment: This feature can be appreciated on skull radiography.
xref: UMLS:C1398718
is_a: HP:0012681 ! Abnormal pineal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-22T12:51:57Z

[Term]
id: HP:0012683
name: Pineal cyst
def: "A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland." [https://orcid.org/0000-0002-0736-9199, PMID:21801982]
comment: Pineal cysts are benign and often asymptomatic lesions. They are typically visualized by computed tomography or magnetic resonance imaging.
xref: SNOMEDCT_US:413099000
xref: UMLS:C1335411
is_a: HP:0010576 ! Intracranial cystic lesion
is_a: HP:0012681 ! Abnormal pineal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-22T01:01:45Z

[Term]
id: HP:0012684
name: Abnormal pineal volume
def: "An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland." [HPO_CONTRIBUTOR:UToronto_htrang]
comment: This feature is typically assessed by magnetic resonance tomography of the brain.
xref: UMLS:C4022781
is_a: HP:0012681 ! Abnormal pineal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-22T01:08:48Z

[Term]
id: HP:0012685
name: Decreased pineal volume
def: "An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland." [HPO_CONTRIBUTOR:UToronto_htrang, PMID:24456088]
xref: UMLS:C4022780
is_a: HP:0012684 ! Abnormal pineal volume
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-22T01:10:12Z

[Term]
id: HP:0012686
name: Increased pineal volume
def: "An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland." [HPO_CONTRIBUTOR:UToronto_htrang]
xref: UMLS:C4022779
is_a: HP:0012684 ! Abnormal pineal volume
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-22T01:11:33Z

[Term]
id: HP:0012687
name: Agenesis of pineal gland
def: "Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present." [HPO_CONTRIBUTOR:UToronto_htrang]
xref: UMLS:C3553078
is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system
is_a: HP:0012681 ! Abnormal pineal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-22T01:13:13Z

[Term]
id: HP:0012688
name: Abnormality of pineal physiology
def: "A functional abnormality of the pineal gland." [HPO_CONTRIBUTOR:UToronto_htrang]
xref: UMLS:C4022778
is_a: HP:0012638 ! Abnormal nervous system physiology
is_a: HP:0012680 ! Abnormality of the pineal gland
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-22T01:15:36Z

[Term]
id: HP:0012689
name: Abnormal pineal melatonin secretion
def: "An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland." [HPO_CONTRIBUTOR:UToronto_htrang, PMID:22724080]
comment: The rhythm of melatonin synthesized in and released from the pineal gland is characterized by a prominent nocturnal peak, which also contains temporal information that had originated in the suprachiasmatic nucleus. Strong reductions of circulating melatonin are also observed in numerous disorders and diseases, including Alzheimer's disease, various other neurological and stressful conditions, pain, cardiovascular diseases, cases of cancer, endocrine and metabolic disorders, in particular diabetes type 2.
xref: UMLS:C4022777
is_a: HP:0012688 ! Abnormality of pineal physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-22T01:16:40Z

[Term]
id: HP:0012690
name: T2 hypointense thalamus
def: "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022776
is_a: HP:0012696 ! Abnormal thalamic MRI signal intensity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-22T04:32:50Z

[Term]
id: HP:0012691
name: Focal T2 hypointense thalamic lesion
def: "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022775
is_a: HP:0012696 ! Abnormal thalamic MRI signal intensity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-22T04:52:32Z

[Term]
id: HP:0012692
name: Focal T2 hyperintense thalamic lesion
def: "A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus." [https://orcid.org/0000-0002-0736-9199]
comment: The term "unidentified bright object" has been used to describe T2 hyperintense lesions in the thalamus and elsewhere in patients with neurofibromatosis.
xref: UMLS:C4022774
is_a: HP:0012696 ! Abnormal thalamic MRI signal intensity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-22T04:54:03Z

[Term]
id: HP:0012693
name: Abnormal thalamic size
def: "Deviation from the normal range of size of the thalamus." [HPO_CONTRIBUTOR:UToronto_htrang]
xref: UMLS:C4022773
is_a: HP:0010663 ! Abnormal thalamus morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-22T05:45:51Z

[Term]
id: HP:0012694
name: Enlarged thalamic volume
def: "An increase in the quantity of space occupied by the thalamus." [HPO_CONTRIBUTOR:UToronto_htrang]
xref: UMLS:C4022772
is_a: HP:0012693 ! Abnormal thalamic size
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-22T05:47:14Z

[Term]
id: HP:0012695
name: Decreased thalamic volume
def: "A reduction in the quantity of space occupied by the thalamus." [HPO_CONTRIBUTOR:UToronto_htrang]
xref: UMLS:C4022771
is_a: HP:0012693 ! Abnormal thalamic size
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-22T05:48:28Z

[Term]
id: HP:0012696
name: Abnormal thalamic MRI signal intensity
def: "A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022770
is_a: HP:0010663 ! Abnormal thalamus morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-22T05:49:08Z

[Term]
id: HP:0012697
name: Small basal ganglia
def: "Decreased size of the basal ganglia." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022769
is_a: HP:0002134 ! Abnormal basal ganglia morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-22T06:01:22Z

[Term]
id: HP:0012698
name: Cerebellar gliosis
def: "Focal proliferation of glial cells in the cerebellum." [HPO_CONTRIBUTOR:UToronto_htrang]
xref: UMLS:C4022768
is_a: HP:0001317 ! Abnormal cerebellum morphology
is_a: HP:0002171 ! Gliosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-22T06:03:03Z

[Term]
id: HP:0012699
name: Anomaly of lower limb diaphyses
def: "A structural abnormality of a diaphysis of the leg." [HPO_CONTRIBUTOR:UToronto_htrang]
synonym: "Anomaly of shaft of long bone of lower limb" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4022767
is_a: HP:0000940 ! Abnormal diaphysis morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-22T06:14:15Z

[Term]
id: HP:0012700
name: Abnormal large intestine physiology
def: "A functional anomaly of the large intestine." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022766
is_a: HP:0025032 ! Abnormality of digestive system physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-22T06:20:38Z

[Term]
id: HP:0012701
name: Bowel urgency
def: "A sudden, irresistible need to have a bowel movement." [HPO_CONTRIBUTOR:UToronto_htrang]
synonym: "Faecal urgency" EXACT uk_spelling []
synonym: "Fecal urgency" EXACT []
xref: SNOMEDCT_US:71820002
xref: UMLS:C0426636
is_a: HP:0012700 ! Abnormal large intestine physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-22T06:22:14Z

[Term]
id: HP:0012702
name: Tenesmus
def: "A repeated, painful urge to defecate without excreting stool." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:267053000
xref: SNOMEDCT_US:6548007
xref: UMLS:C0232726
is_a: HP:0012700 ! Abnormal large intestine physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-22T06:23:05Z

[Term]
id: HP:0012703
name: Abnormal subarachnoid space morphology
def: "Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid." [HPO_CONTRIBUTOR:UToronto_htrang]
synonym: "Abnormality of the subarachnoid space" EXACT []
xref: UMLS:C4022765
is_a: HP:0002011 ! Morphological central nervous system abnormality
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-22T07:45:24Z

[Term]
id: HP:0012704
name: Widened subarachnoid space
def: "An increase in size of the anatomic space between the arachnoid membrane and pia mater." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlarged subarachnoid space" EXACT []
synonym: "Widened subarachnoid spaces" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1846151
is_a: HP:0012703 ! Abnormal subarachnoid space morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-22T07:59:21Z

[Term]
id: HP:0012705
name: Abnormal metabolic brain imaging by MRS
def: "An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS)." [https://orcid.org/0000-0002-0736-9199]
comment: MRS can only detect a few metabolites as least millimolar concentrations are necessary for the metabolites to be detected. The major brain metabolites detected are choline (Cho), creatine (Cr), N-acetyl aspartate (NAA), lactate, myo-inositol, glutamine and glutamate, lipids, and the amino acids leucine and alanine.
xref: UMLS:C4022764
is_a: HP:0410263 ! Brain imaging abnormality
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-22T08:04:18Z

[Term]
id: HP:0012706
name: Elevated brain choline level by MRS
def: "An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS)." [HPO_CONTRIBUTOR:UToronto_htrang]
comment: The Choline (Cho) peak is a heterogeneous peak representing various choline-containing compounds such as acetylcholine, phosphocholine (lecithin), glycerophosphocholine, and various other intermediates of phospholipids metabolism. It is an indicator of cell density and cell wall turnover. Elevated levels are found in tumors, especially malignant ones, and in certain demyelinating diseases. Choline resonance presents at 3.22 ppm. Studies have shown there is also a direct association between Cho and levels of Ki-67, a protein expressed in all phases of the cell cycle except GO that serves as a good marker for cellular proliferation. This observation makes Cho a reliable predictor of cellular activity in tumor tissue.
xref: UMLS:C4022763
is_a: HP:0025047 ! Abnormal brain choline level by MRS
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-22T08:06:29Z

[Term]
id: HP:0012707
name: Elevated brain lactate level by MRS
def: "An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS)." [HPO_CONTRIBUTOR:UToronto_htrang]
comment: Lactate (Lac) is absent in normal brain tissue and its presence is indicative of anerobic glycolysis at the cellular level. Elevated levels are associated with ischemic conditions or metabolic disorders (where anerobic glycolysis predominates) but is also noted at the edges of large brain tumors. The peak is very sensitive to the technique employed and unless the correct echo time is employed, it may be artifactually suppressed. The spectral peak lies at 1:33 ppm. The peak is often inverted or bifid.
xref: UMLS:C4022762
is_a: HP:0025045 ! Abnormal brain lactate level by MRS
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-22T08:08:20Z

[Term]
id: HP:0012708
name: Reduced brain N-acetyl aspartate level by MRS
def: "A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS)." [HPO_CONTRIBUTOR:UToronto_htrang]
comment: N-Acetyl Aspartate (NAA) is an amino acid found exclusively in neurons. It is regarded as a non-specific marker and is thought to be involved in Coenzyme A interactions and lipogenesis within the brain. It is a marker of neuronal viability. Normal NAA concentration is in the range of 8-9 mmol/kg in healthy adult brain. Concentrations are decreased in conditions leading to axonal injury or neuronal loss. NAA is also decreased in other conditions such as neoplasm, infarction, and inflammatory conditions such as multiple sclerosis. NAA peak is seen at 2.0 ppm (parts per million) on MR spectra.
synonym: "MR Spectroscopy: N-acetylaspartate low in brain" EXACT []
synonym: "Reduced brain N-acetyl aspartate level by magnetic resonance spectroscopy" EXACT []
xref: UMLS:C4022761
is_a: HP:0025052 ! Abnormal brain N-acetyl aspartate level by MRS
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-22T08:09:12Z

[Term]
id: HP:0012709
name: Abnormal brain choline/creatine ratio by MRS
def: "A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS)." [HPO_CONTRIBUTOR:UToronto_htrang]
comment: Creatine (Cr) is related to cell energy pathways, being both the substrate and product of creatine kinase. Creatine reflects the energy potential available in brain tissue. Its concentration in normal brain remains very high and stable due to high metabolic energy needs of brain cells. Its peak is noticed at 3.0 ppm. Creatine-Choline ratios are an important indicator of disease states such as demyelization.
xref: UMLS:C4022760
is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-22T08:12:15Z

[Term]
id: HP:0012710
name: Ingrown nail
def: "Excessive growth of a nail laterally into the nail fold." [https://orcid.org/0000-0002-0736-9199]
synonym: "Ingrown nail" EXACT layperson []
xref: SNOMEDCT_US:400097005
xref: SNOMEDCT_US:400200009
xref: UMLS:C0027343
is_a: HP:0001597 ! Abnormal nail morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T12:09:47Z

[Term]
id: HP:0012711
name: Delayed ossification of vertebral epiphysis
def: "A delay in the process of formation and maturation of the epiphysis of one or more vertebrae." [https://orcid.org/0000-0002-0736-9199]
synonym: "Delayed maturation of the end part of the vertebral bone" RELATED layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4022759
xref: UMLS:C4280312
is_a: HP:0100569 ! Abnormally ossified vertebrae
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T12:27:51Z

[Term]
id: HP:0012712
name: Mild hearing impairment
def: "The presence of a mild form of hearing impairment." [https://orcid.org/0000-0002-0736-9199]
synonym: "Mild hearing impairment" EXACT layperson []
xref: UMLS:C4022758
is_a: HP:0000365 ! Hearing impairment
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T12:33:46Z

[Term]
id: HP:0012713
name: Moderate hearing impairment
def: "The presence of a moderate form of hearing impairment." [https://orcid.org/0000-0002-0736-9199]
synonym: "Moderate hearing impairment" EXACT layperson []
xref: UMLS:C4022757
is_a: HP:0000365 ! Hearing impairment
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T12:35:59Z

[Term]
id: HP:0012714
name: Severe hearing impairment
def: "A severe form of hearing impairment." [https://orcid.org/0000-0002-0736-9199]
synonym: "Severe deafness" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Severe hearing impairment" EXACT layperson []
synonym: "Severe hearing loss" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:3561000119106
xref: UMLS:C3874334
is_a: HP:0000365 ! Hearing impairment
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T12:37:33Z

[Term]
id: HP:0012715
name: Profound hearing impairment
def: "A profound (essentially complete) form of hearing impairment." [https://orcid.org/0000-0002-0736-9199]
synonym: "Profound hearing impairment" EXACT layperson []
xref: UMLS:C4022756
is_a: HP:0000365 ! Hearing impairment
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T12:38:39Z

[Term]
id: HP:0012716
name: Moderate conductive hearing impairment
def: "The presence of a moderate form of conductive hearing impairment." [https://orcid.org/0000-0002-0736-9199]
comment: Conductive hearing impairment with 21-40 dB deficit.
synonym: "Conductive hearing loss, moderate" EXACT []
xref: UMLS:C4021075
is_a: HP:0000405 ! Conductive hearing impairment
is_a: HP:0012712 ! Mild hearing impairment
is_a: HP:0012713 ! Moderate hearing impairment
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T12:40:05Z

[Term]
id: HP:0012717
name: Severe conductive hearing impairment
def: "A severe form of conductive hearing impairment." [https://orcid.org/0000-0002-0736-9199]
comment: Conductive hearing impairment with 21-40 dB deficit.
synonym: "Conductive hearing loss, severe" EXACT []
xref: UMLS:C4021074
is_a: HP:0000405 ! Conductive hearing impairment
is_a: HP:0012712 ! Mild hearing impairment
is_a: HP:0012714 ! Severe hearing impairment
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T12:40:51Z

[Term]
id: HP:0012718
name: Abnormal gastrointestinal tract morphology
def: "Abnormal structure of the gastrointestinal tract." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal shape of the digestive system" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Morphological abnormality of the gastrointestinal tract" EXACT []
synonym: "Morphological abnormality of the GI tract" EXACT abbreviation []
synonym: "Morphological anomaly of the digestive system" EXACT []
xref: UMLS:C4021073
is_a: HP:0011024 ! Abnormality of the gastrointestinal tract
is_a: HP:0025033 ! Abnormal digestive system morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T01:09:02Z

[Term]
id: HP:0012719
name: Functional abnormality of the gastrointestinal tract
def: "Abnormal functionality of the gastrointestinal tract." [https://orcid.org/0000-0002-0736-9199]
synonym: "Functional abnormality of the GI tract" EXACT abbreviation []
synonym: "GI dysfunction" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4022755
is_a: HP:0011024 ! Abnormality of the gastrointestinal tract
is_a: HP:0025032 ! Abnormality of digestive system physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T01:10:47Z

[Term]
id: HP:0012720
name: Neoplasm of the nose
alt_id: HP:0100637
def: "Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity." [https://orcid.org/0000-0002-0736-9199]
synonym: "Nasal neoplasm" EXACT []
synonym: "Nasal tumor" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Nasal tumour" EXACT uk_spelling []
synonym: "Neoplasia of the nose" EXACT []
synonym: "Nose cancer" EXACT layperson []
synonym: "Tumor of the nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Tumour of the nose" EXACT uk_spelling []
xref: NCIT:C3262
xref: SNOMEDCT_US:126669004
xref: UMLS:C0028433
xref: UMLS:C0751394
is_a: HP:0012289 ! Facial neoplasm
is_a: HP:0100630 ! Neoplasia of the nasopharynx
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T01:16:06Z

[Term]
id: HP:0012721
name: Venous malformation
def: "A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region." [https://orcid.org/0000-0002-0736-9199]
comment: Venous malformations are always present at birth, and usually involve the skin of the face, limbs, or trunk.
synonym: "Venous malformations" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:297222002
xref: UMLS:C2937220
is_a: HP:0002624 ! Abnormal venous morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T01:20:33Z

[Term]
id: HP:0012722
name: Heart block
def: "Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:233916004
xref: UMLS:C0018794
is_a: HP:0031546 ! Cardiac conduction abnormality
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T01:32:14Z

[Term]
id: HP:0012723
name: Sinoatrial block
def: "Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria." [https://orcid.org/0000-0002-0736-9199]
comment: Sinoatrial block is characterized by a delayed in heartbeat and pauses between P waves as demonstrated by electrocardiography.
xref: Fyler:7014
xref: SNOMEDCT_US:65778007
xref: UMLS:C0037188
is_a: HP:0011702 ! Abnormal electrophysiology of sinoatrial node origin
is_a: HP:0012722 ! Heart block
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T01:34:01Z

[Term]
id: HP:0012724
name: Upper eyelid edema
def: "Edema in the region of the upper eyelid." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cellulitis of upper eyelid" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Fullness of upper eyelid" EXACT layperson []
synonym: "Puffiness of upper eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Swelling of upper eyelid" EXACT layperson []
synonym: "Upper eyelid oedema" EXACT uk_spelling []
xref: SNOMEDCT_US:700339006
xref: UMLS:C2025988
xref: UMLS:C3839407
is_a: HP:0100540 ! Palpebral edema
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T01:38:57Z

[Term]
id: HP:0012725
name: Cutaneous syndactyly
def: "A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cutaneous syndactyly of digits" EXACT []
synonym: "Syndactyly, cutaneous" EXACT []
xref: UMLS:C1861921
is_a: HP:0001159 ! Syndactyly
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T01:40:45Z

[Term]
id: HP:0012726
name: Episodic hypokalemia
def: "An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes." [https://orcid.org/0000-0002-0736-9199]
synonym: "Recurrent low potassium" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4022754
is_a: HP:0002900 ! Hypokalemia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T02:08:24Z

[Term]
id: HP:0012727
name: Thoracic aortic aneurysm
def: "An abnormal localized widening (dilatation) of the thoracic aorta." [https://orcid.org/0000-0002-0736-9199]
comment: Aneurysm is considered a severe form of dilatation.
synonym: "Dilatation of the thoracic aorta" BROAD []
xref: SNOMEDCT_US:433068007
xref: UMLS:C0162872
is_a: HP:0004942 ! Aortic aneurysm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T02:22:20Z

[Term]
id: HP:0012728
name: Fusiform descending thoracic aortic aneurysm
def: "A concentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves the full circumference of the vessel wall" [https://orcid.org/0000-0002-0736-9199]
comment: Aneurysm is considered a severe form of dilatation.
synonym: "Dilatation of the fusiform descending thoracic aorta" BROAD []
xref: UMLS:C4022753
is_a: HP:0004959 ! Descending thoracic aorta aneurysm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T02:26:12Z

[Term]
id: HP:0012729
name: Saccular descending thoracic aortic aneurysm
def: "An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall" [https://orcid.org/0000-0002-0736-9199]
comment: Aneurysm is considered a severe form of dilatation.
synonym: "Dilatation of the saccular descending thoracic aorta" BROAD []
xref: UMLS:C4022752
is_a: HP:0004959 ! Descending thoracic aorta aneurysm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T02:27:11Z

[Term]
id: HP:0012730
name: Aglossia
def: "Absence of the tongue owing to a developmental abnormality." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absence of tongue" EXACT []
synonym: "Failure of development of tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing tongue" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:74788000
xref: UMLS:C0158663
is_a: HP:0010295 ! Aplasia/Hypoplasia of the tongue
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T02:30:53Z

[Term]
id: HP:0012731
name: Ectopic anterior pituitary gland
alt_id: HP:0011765
def: "Abnormal anatomic location of the anterior pituitary gland." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022751
is_a: HP:0011747 ! Abnormality of the anterior pituitary
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T02:41:41Z

[Term]
id: HP:0012732
name: Anorectal anomaly
def: "An abnormality of the anus or rectum." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:33225004
xref: UMLS:C3495676
is_a: HP:0012718 ! Abnormal gastrointestinal tract morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T02:48:00Z

[Term]
id: HP:0012733
name: Macule
def: "A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin." [https://orcid.org/0000-0002-0736-9199]
synonym: "Flat, discolored area of skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Flat, discoloured area of skin" EXACT uk_spelling []
xref: SNOMEDCT_US:112629002
xref: UMLS:C0332573
is_a: HP:0011355 ! Localized skin lesion
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T02:54:25Z

[Term]
id: HP:0012734
name: Ketotic hypoglycemia
def: "Low blood glucose is accompanied by elevated levels of ketone bodies in the body." [https://orcid.org/0000-0002-0736-9199]
synonym: "Ketotic low blood sugar" EXACT [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:20825002
xref: UMLS:C0271713
is_a: HP:0001943 ! Hypoglycemia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T03:00:50Z

[Term]
id: HP:0012735
name: Cough
def: "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation." [https://orcid.org/0000-0002-0736-9199, PMID:16428719, PMID:17540788]
comment: The European Respiratory Society Task Force recommended two possible definitions of cough: (1) A three-phase expulsive motor act characterized by an inspiratory effort (inspiratory phase) followed by a forced expiratory effort against a closed glottis (compressive phase) and then by opening of the glottis and rapid expiratory airflow (expulsive phase);and (2) A forced expiratory maneuver, usually against a closed glottis and associated with a characteristic sound. The term Cough or any of its more specific descendents can be modified by the terms Acute (HP:0011009), Subacute (HP:0011011), and Chronic (HP:0011010). In adults, an acute cough lasts less than 3 weeks, a subacute cough from 3 to 8 weeks, and a chronic cough longer than 8 weeks. In children aged less than 15 years a chronic cough is defined as a daily cough lasting for over 4 weeks.
synonym: "Cough" EXACT layperson []
synonym: "Coughing" EXACT layperson []
xref: SNOMEDCT_US:263731006
xref: SNOMEDCT_US:272039006
xref: SNOMEDCT_US:49727002
xref: UMLS:C0010200
is_a: HP:0002795 ! Abnormal respiratory system physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T03:19:50Z

[Term]
id: HP:0012736
name: Profound global developmental delay
def: "A profound delay in the achievement of motor or mental milestones in the domains of development of a child." [https://orcid.org/0000-0002-6410-0882]
synonym: "Global developmental delay, profound" EXACT []
synonym: "Psychomotor retardation, profound" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C1855773
xref: UMLS:C3553450
is_a: HP:0001263 ! Global developmental delay
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T03:21:25Z

[Term]
id: HP:0012737
name: Small intestinal polyp
def: "A discrete abnormal tissue mass that protrudes into the lumen of the small intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:399723004
xref: UMLS:C1302645
is_a: HP:0005266 ! Intestinal polyp
is_a: HP:0100833 ! Neoplasm of the small intestine
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T03:50:25Z

[Term]
id: HP:0012738
name: Agenesis of canine
def: "Agenesis of canine tooth." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absence of canine" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Absence of eye tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Absent canines" EXACT layperson []
synonym: "Failure of development of canine" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Failure of development of eye tooth" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing canine" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Missing eye tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4021072
xref: UMLS:C4280311
is_a: HP:0001592 ! Selective tooth agenesis
is_a: HP:0011078 ! Abnormality of canine
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T04:26:04Z

[Term]
id: HP:0012739
name: Agenesis of the small intestine
def: "Failure to develop of the small intestine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small bowel agenesis" EXACT []
synonym: "Undeveloped small intestine" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4021071
is_a: HP:0002244 ! Abnormal small intestine morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T04:28:53Z

[Term]
id: HP:0012740
name: Papilloma
def: "A tumor of the skin or mucous membrane with finger-like projections." [https://orcid.org/0000-0002-0736-9199]
comment: The vast majority of papillomas are benign. Papillomas on the skin (cutaneous papillomas) are commonly referred to as warts.
xref: SNOMEDCT_US:23730008
xref: SNOMEDCT_US:711329002
xref: UMLS:C0030354
is_a: HP:0008069 ! Neoplasm of the skin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T04:36:41Z

[Term]
id: HP:0012741
name: Unilateral cryptorchidism
def: "Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum." [https://orcid.org/0000-0002-0736-9199]
synonym: "Cryptorchidism, unilateral" EXACT []
xref: SNOMEDCT_US:268227001
xref: UMLS:C0431664
is_a: HP:0000028 ! Cryptorchidism
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T04:41:57Z

[Term]
id: HP:0012742
name: Thin fingernail
alt_id: HP:0040037
def: "Fingernail that appears thin when viewed on end." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
comment: No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males (http://www.emedicine.com/orthoped/topic421.htm). Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it include other characteristics besides thin nails, it should not be used to indicate this. The affected digits should be specified.
synonym: "Thin fingernail" EXACT layperson []
xref: UMLS:C4022750
is_a: HP:0001231 ! Abnormal fingernail morphology
is_a: HP:0001816 ! Thin nail
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T04:47:40Z

[Term]
id: HP:0012743
name: Abdominal obesity
def: "Excessive fat around the stomach and abdomen." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abdominal obesity" EXACT layperson []
synonym: "Central obesity" EXACT layperson [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:248311001
xref: UMLS:C0311277
is_a: HP:0001513 ! Obesity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T05:00:05Z

[Term]
id: HP:0012744
name: Femoral aplasia
def: "Failure of the femur to develop." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent femur" EXACT []
synonym: "Absent thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Aplasia of the femur" EXACT []
xref: SNOMEDCT_US:47276000
xref: UMLS:C0265629
is_a: HP:0005613 ! Aplasia/hypoplasia of the femur
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T05:14:34Z

[Term]
id: HP:0012745
name: Short palpebral fissure
def: "Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures." [PMID:19125427]
subset: hposlim_core
synonym: "Decreased height of palpebral fissure" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Short opening between the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Short palpebral fissures" EXACT [https://orcid.org/0000-0002-5316-1399]
xref: SNOMEDCT_US:246802000
xref: UMLS:C0423112
is_a: HP:0200007 ! Abnormal size of the palpebral fissures
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T05:27:40Z

[Term]
id: HP:0012746
name: Thin toenail
alt_id: HP:0040038
def: "Toenail that appears thin when viewed on end." [https://orcid.org/0000-0002-0736-9199, PMID:19125433]
comment: No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males (http://www.emedicine.com/orthoped/topic421.htm). Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it include other characteristics besides thin nails, it should not be used to indicate this. The affected digits should be specified.
synonym: "Thin toenail" EXACT layperson []
synonym: "Thin toenails" RELATED layperson [https://orcid.org/0000-0002-5316-1399]
xref: UMLS:C3554113
is_a: HP:0001816 ! Thin nail
is_a: HP:0008388 ! Abnormal toenail morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-23T05:34:43Z

[Term]
id: HP:0012747
name: Abnormal brainstem MRI signal intensity
def: "A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem." [HPO_CONTRIBUTOR:UToronto_htrang]
xref: UMLS:C4022749
is_a: HP:0002363 ! Abnormal brainstem morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-30T06:41:13Z

[Term]
id: HP:0012748
name: Focal T2 hyperintense brainstem lesion
def: "A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem." [HPO_CONTRIBUTOR:UToronto_htrang]
xref: UMLS:C4022748
is_a: HP:0012747 ! Abnormal brainstem MRI signal intensity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-30T06:43:06Z

[Term]
id: HP:0012749
name: Focal T2 hypointense brainstem lesion
def: "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem." [HPO_CONTRIBUTOR:UToronto_htrang]
xref: UMLS:C4022747
is_a: HP:0012747 ! Abnormal brainstem MRI signal intensity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-30T06:43:56Z

[Term]
id: HP:0012750
name: T2 hypointense brainstem
def: "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem." [HPO_CONTRIBUTOR:UToronto_htrang]
xref: UMLS:C4022746
is_a: HP:0012747 ! Abnormal brainstem MRI signal intensity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-30T06:44:29Z

[Term]
id: HP:0012751
name: Abnormal basal ganglia MRI signal intensity
def: "A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia." [HPO_CONTRIBUTOR:UToronto_htrang]
xref: UMLS:C4022745
is_a: HP:0002134 ! Abnormal basal ganglia morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-30T06:47:28Z

[Term]
id: HP:0012752
name: Focal T2 hypointense basal ganglia lesion
def: "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022744
is_a: HP:0012751 ! Abnormal basal ganglia MRI signal intensity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-30T06:52:14Z

[Term]
id: HP:0012753
name: T2 hypointense basal ganglia
def: "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022743
is_a: HP:0012751 ! Abnormal basal ganglia MRI signal intensity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-30T06:52:42Z

[Term]
id: HP:0012754
name: CNS hypermyelination
def: "Increased amount of myelin in the central nervous system." [HPO_CONTRIBUTOR:UToronto_htrang]
xref: UMLS:C4022742
is_a: HP:0011400 ! Abnormal CNS myelination
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-30T07:15:56Z

[Term]
id: HP:0012755
name: Enlarged brainstem
def: "Abnormal increase in size of the brainstem." [HPO_CONTRIBUTOR:UToronto_htrang]
comment: An enlarged brainstem may be observed with diffuse infiltrating tumor, PNET (primitive neuroectodermal tumor), ganglionoma, hamartoma, vascular malformation, or inflammatory process.
xref: UMLS:C4022741
is_a: HP:0002363 ! Abnormal brainstem morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-03-30T07:23:06Z

[Term]
id: HP:0012756
name: CSF polymorphonuclear pleocytosis
def: "An increased polymorphonuclear cell count in the cerebrospinal fluid." [HPO_CONTRIBUTOR:KI_phemming]
xref: UMLS:C4022740
is_a: HP:0012229 ! CSF pleocytosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-02T01:07:51Z

[Term]
id: HP:0012757
name: Abnormal neuron morphology
def: "A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions." [HPO_CONTRIBUTOR:KI_phemming, PMID:28723006]
synonym: "Abnormal neuron shape" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Abnormal neuronal morphology" EXACT []
xref: UMLS:C4022739
is_a: HP:0012639 ! Abnormal nervous system morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-02T05:12:30Z

[Term]
id: HP:0012758
name: Neurodevelopmental delay
def: "Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems." [https://orcid.org/0000-0002-6670-9157, PMID:31783983]
comment: Though the definitions of NDD vary broadly in the literature, all are used to signify a delay in one or more developmental domains compared to typical development.
synonym: "NDD" EXACT abbreviation []
xref: UMLS:C4022738
is_a: HP:0012759 ! Neurodevelopmental abnormality
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-03T12:16:19Z

[Term]
id: HP:0012759
name: Neurodevelopmental abnormality
def: "A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities." [HPO_CONTRIBUTOR:KI_phemming]
comment: This term should be used to describe abnormalities with onset in the developmental period.
xref: UMLS:C4022737
is_a: HP:0012638 ! Abnormal nervous system physiology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-03T12:20:28Z

[Term]
id: HP:0012760
name: Reduced social responsiveness
alt_id: HP:0000735
alt_id: HP:5200004
alt_id: HP:5200103
alt_id: HP:5200131
def: "A reduced ability to participate in the back-and-forth flow of social interaction appropriate to culture and developmental level, which is normally characterized by an influence of the behavior of one person on the behavior of another person. This results in difficulty interacting with others through emotional, physical, or verbal communication." [PMID:28707360, PMID:34924788]
comment: Reciprocity can be assessed by determining the extent to which a child demonstrates activity similar to that of peers or of the examiner (e.g., playing the same game), shows turn-taking behavior, or recognizes the intentions of the other person and contributes to an activity that a peer or the examiner has initiated. In the diagnostic process, it may be difficult to decide whether limitations in social behavior of children with intellectual disability (ID) are due to a co-occurring autism spectrum disorder (ASD) and are often unduly attributed to the ID, a phenomenon also known as diagnostic overshadowing. This term is intended to apply to impaired social reciprocity that is not attributed to ID.
synonym: "Impaired social interaction" EXACT []
synonym: "Impaired social interactions" EXACT []
synonym: "Impaired social reciprocity" EXACT [https://orcid.org/0000-0001-9112-5148, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-6670-9157, https://orcid.org/0000-0002-9593-5508]
synonym: "Poor social interactions" EXACT layperson []
synonym: "Reduced friendship reciprocity" NARROW []
synonym: "Reduced social reciprocity" NARROW []
xref: UMLS:C4022736
is_a: HP:0025732 ! Abnormal social development
property_value: terms:contributor https://orcid.org/0000-0001-9112-5148
property_value: terms:contributor https://orcid.org/0000-0002-4142-7153
property_value: terms:contributor https://orcid.org/0000-0002-6670-9157
property_value: terms:contributor https://orcid.org/0000-0002-9593-5508
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-03T12:52:44Z

[Term]
id: HP:0012761
name: Absent mastoid
alt_id: HP:0200110
def: "A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent mastoids" EXACT []
synonym: "Failure of development of mastoid" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Mastoid agenesis" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4021070
is_a: HP:0000264 ! Abnormal mastoid morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-03T01:06:18Z

[Term]
id: HP:0012762
name: Cerebral white matter atrophy
def: "The presence of atrophy (wasting) of the cerebral white matter." [HPO_CONTRIBUTOR:UToronto_htrang]
xref: UMLS:C4022735
is_a: HP:0002500 ! Abnormal cerebral white matter morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-04-06T10:55:36Z

[Term]
id: HP:0012763
name: Paroxysmal dyspnea
def: "A sudden attack of dyspnea that occurs while the affected person is at rest." [https://orcid.org/0000-0002-0736-9199]
comment: Paroxysmal nocturnal dyspnea (PND) is a sensation of shortness of breath that awakens the patient, often after 1 or 2 hours of sleep, and is usually relieved in the upright position.
synonym: "Paroxysmal dyspnoea" EXACT uk_spelling []
xref: SNOMEDCT_US:59265000
xref: UMLS:C0013405
is_a: HP:0002094 ! Dyspnea
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-04-06T10:58:39Z

[Term]
id: HP:0012764
name: Orthopnea
def: "A sensation of breathlessness in the recumbent position, relieved by sitting or standing." [HPO_CONTRIBUTOR:UToronto_htrang]
xref: SNOMEDCT_US:62744007
xref: UMLS:C0085619
is_a: HP:0002094 ! Dyspnea
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-04-06T11:03:04Z

[Term]
id: HP:0012765
name: Widened cerebellar subarachnoid space
def: "An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum." [HPO_CONTRIBUTOR:UToronto_htrang]
xref: UMLS:C4022734
is_a: HP:0012704 ! Widened subarachnoid space
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-04-06T11:06:46Z

[Term]
id: HP:0012766
name: Widened cerebral subarachnoid space
def: "An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum." [HPO_CONTRIBUTOR:UToronto_htrang]
xref: UMLS:C4022733
is_a: HP:0012704 ! Widened subarachnoid space
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-04-06T11:08:12Z

[Term]
id: HP:0012767
name: Abnormal placental size
def: "A deviation from normal size of the placenta." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022732
is_a: HP:0100767 ! Abnormal placenta morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-07T12:11:29Z

[Term]
id: HP:0012768
name: Neonatal asphyxia
def: "Respiratory failure in the newborn." [https://orcid.org/0000-0002-0736-9199]
synonym: "Asphyxia neonatorum" EXACT []
xref: SNOMEDCT_US:28314004
xref: SNOMEDCT_US:413654009
xref: UMLS:C0004045
is_a: HP:0002643 ! Neonatal respiratory distress
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-07T12:39:08Z

[Term]
id: HP:0012769
name: Abnormal arm span
def: "A deviation from normal of the length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle)" [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal arm span" EXACT layperson []
xref: UMLS:C4022731
is_a: HP:0002817 ! Abnormality of the upper limb
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-07T03:09:08Z

[Term]
id: HP:0012770
name: Reduced arm span
def: "Decreased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Reduced arm span" EXACT layperson []
xref: UMLS:C4022730
is_a: HP:0012769 ! Abnormal arm span
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-07T03:09:58Z

[Term]
id: HP:0012771
name: Increased arm span
def: "Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Increased arm span" EXACT layperson []
xref: UMLS:C4022729
is_a: HP:0012769 ! Abnormal arm span
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-07T03:10:35Z

[Term]
id: HP:0012772
name: Abnormal upper to lower segment ratio
def: "A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022728
is_a: HP:0000002 ! Abnormality of body height
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-07T03:12:56Z

[Term]
id: HP:0012773
name: Reduced upper to lower segment ratio
def: "Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. Consider the term Disproportionate tall stature (HP:0001519) if tall stature is also present." [https://orcid.org/0000-0002-0736-9199]
comment: A ratio of less than 0.86 (or according to other sources 0.89) is considered abnormally reduced.
xref: UMLS:C1836996
is_a: HP:0012772 ! Abnormal upper to lower segment ratio
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-07T03:14:28Z

[Term]
id: HP:0012774
name: Increased upper to lower segment ratio
def: "Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C1844571
is_a: HP:0012772 ! Abnormal upper to lower segment ratio
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-07T03:16:21Z

[Term]
id: HP:0012775
name: Stellate iris
def: "A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel." [HPO_CONTRIBUTOR:CINEAS_asollie]
xref: UMLS:C4022727
is_a: HP:0008034 ! Abnormal iris pigmentation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-07T03:54:41Z

[Term]
id: HP:0012776
name: Abnormal ciliary body morphology
def: "A structural anomaly of the ciliary body." [HPO_CONTRIBUTOR:CINEAS_asollie]
synonym: "Abnormality of the ciliary body" EXACT []
xref: UMLS:C4022726
is_a: HP:0000553 ! Abnormal uvea morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-07T04:00:10Z

[Term]
id: HP:0012777
name: Retinal neoplasm
def: "A tumor (abnormal growth of tissue) of the retina." [HPO_CONTRIBUTOR:CINEAS_asollie]
xref: NCIT:C3262
xref: SNOMEDCT_US:127002001
xref: UMLS:C0524801
is_a: HP:0000479 ! Abnormal retinal morphology
is_a: HP:0100012 ! Neoplasm of the eye
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-07T05:38:24Z

[Term]
id: HP:0012778
name: Retinal astrocytic hamartoma
def: "A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte." [PMID:20435268, PMID:23436975]
comment: Classically retinal astrocytic hamartomas appear as a cream-white, well-circumscribed, elevated lesions that may present as multiple or solitary sites. A lesion is commonly seen with a multilobulated, "mulberry" appearance, but can also appear flat and semitranslucent. It is most frequently associated with tuberous sclerosis but may also be found rarely in patients with neurofibromatosis. Although the finding may point toward a systemic association, it can also be found incidentally on retinal examination as an isolated presentation.
xref: UMLS:C4022725
is_a: HP:0009594 ! Retinal hamartoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-07T05:38:54Z

[Term]
id: HP:0012779
name: Transient hearing impairment
def: "Hearing loss that occurs acutely and resolves completely." [PMID:21776317]
comment: Transient hearing loss is particularly common in childhood as a result of inadequate ventilation of the middle ear.
xref: UMLS:C4022724
is_a: HP:0000365 ! Hearing impairment
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-07T06:09:19Z

[Term]
id: HP:0012780
name: Neoplasm of the ear
def: "A tumor (abnormal growth of tissue) of the ear." [https://orcid.org/0000-0002-0736-9199]
synonym: "Ear tumor" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Ear tumour" EXACT uk_spelling []
xref: NCIT:C3262
xref: SNOMEDCT_US:363228008
xref: UMLS:C0013449
is_a: HP:0011793 ! Neoplasm by anatomical site
is_a: HP:0031703 ! Abnormal ear morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-07T06:11:56Z

[Term]
id: HP:0012781
name: Mid-frequency hearing loss
def: "A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz)." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022723
is_a: HP:0000365 ! Hearing impairment
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-08T11:04:07Z

[Term]
id: HP:0012782
name: Perilobar nephrogenic rest
def: "A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe." [https://orcid.org/0000-0002-0736-9199, PMID:20301471]
comment: Perilobar nephrogenic rests are associated with Beckwith-Wiedemann syndrome (BWS) and hemi-hyperplasia.
synonym: "Perilobar nephrogenic rests" EXACT plural_form []
xref: SNOMEDCT_US:405935000
xref: UMLS:C1319017
is_a: HP:0100880 ! Nephrogenic rest
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-20T03:23:16Z

[Term]
id: HP:0012783
name: Intralobar nephrogenic rest
def: "A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls." [https://orcid.org/0000-0002-0736-9199, PMID:20301471]
comment: Intralobar nephrogenic rests are associated WAGR (Wilms tumor-aniridia-genital anomalies-retardation) syndrome and Denys-Drash syndrome (DDS).
synonym: "Intralobar nephrogenic rests" EXACT plural_form []
xref: SNOMEDCT_US:405934001
xref: UMLS:C1319016
is_a: HP:0100880 ! Nephrogenic rest
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-20T03:24:35Z

[Term]
id: HP:0012784
name: Perinephritis
def: "Inflammation of the connective and adipose tissues surrounding the kidney." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:111404004
xref: UMLS:C0031065
is_a: HP:0000123 ! Nephritis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-20T03:32:07Z

[Term]
id: HP:0012785
name: Flexion contracture of finger
def: "Chronic loss of joint motion in a finger due to structural changes in non-bony tissue." [https://orcid.org/0000-0002-0736-9199]
comment: Note that the term camptodactyly refers to a painless flexion contracture of the proximal interphalangeal (PIP) joint and not to a finger joint contracture in general.
synonym: "Flexion deformity of finger" EXACT []
xref: UMLS:C1857304
is_a: HP:0034681 ! Finger joint contracture
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-20T04:09:34Z

[Term]
id: HP:0012786
name: Recurrent cystitis
def: "Repeated infections of the urinary bladder." [https://orcid.org/0000-0002-0736-9199, PMID:20639019]
comment: One definition of recurrent cystitis involves 3 or more diagnosed cystitis episodes (ICD-9 codes 595.0, 595.9, 597.81, 599.0 with episodes separated by 30 days or more) within a 12-month period or 2 episodes within 6 months.
synonym: "Recurrent bladder infections" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:197853008
xref: UMLS:C0581366
is_a: HP:0000010 ! Recurrent urinary tract infections
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-22T09:18:06Z

[Term]
id: HP:0012787
name: Recurrent pyelonephritis
def: "Repeated episodes of pyelonephritis." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C0748199
is_a: HP:0000010 ! Recurrent urinary tract infections
is_a: HP:0012330 ! Pyelonephritis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-22T09:24:10Z

[Term]
id: HP:0012788
name: Reticulate pigmentation of oral mucosa
def: "A net-like pattern of increased pigmentation of the oral cavity." [https://orcid.org/0000-0002-0736-9199]
synonym: "Mottled pigmentation of oral mucosa" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Reticulate pigmentation of oral mucous membrane" EXACT [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1852148
is_a: HP:0100669 ! Abnormal pigmentation of the oral mucosa
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-22T09:31:07Z

[Term]
id: HP:0012789
name: Hypoplasia of the calcaneus
def: "Underdevelopment of the heel bone." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hypoplastic calcaneus" EXACT []
synonym: "Small heel bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Underdeveloped heel bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C3550873
is_a: HP:0008363 ! Aplasia/Hypoplasia of the tarsal bones
is_a: HP:0008364 ! Abnormality of the calcaneus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-22T09:58:48Z

[Term]
id: HP:0012790
name: Abnormal intramembranous ossification
def: "An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal intramembranous bone ossification" EXACT []
xref: UMLS:C4021069
is_a: HP:0011849 ! Abnormal bone ossification
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-24T10:18:31Z

[Term]
id: HP:0012791
name: Abnormal humeral ossification
def: "An anomaly of the process of formation of bone in the humerus." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal maturation of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4022722
is_a: HP:0003336 ! Abnormal enchondral ossification
is_a: HP:0031095 ! Abnormal humerus morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-24T10:23:43Z

[Term]
id: HP:0012792
name: Absent ossification of thoracic vertebral bodies
def: "A lack of bone mineralization of one or more body of thoracic vertebra." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022721
is_a: HP:0004599 ! Absent or minimally ossified vertebral bodies
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-24T11:05:14Z

[Term]
id: HP:0012793
name: Kinked brainstem
def: "A kinked appearance of the brainstem, i.e., an exaggerated flexure." [https://orcid.org/0000-0002-0736-9199, PMID:16301726]
comment: Kinked brainstem is an indicator of severe neurodysgenesis arising early in gestation. This sign can be appreciated in prenatal magnetic resonance imaging.
synonym: "Kinked brain stem" EXACT []
xref: UMLS:C4021068
is_a: HP:0002363 ! Abnormal brainstem morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-25T02:51:49Z

[Term]
id: HP:0012794
name: Periventricular white matter hypodensities
def: "Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles." [https://orcid.org/0000-0002-0736-9199, PMID:16239634]
comment: See also definition for "Deep white matter hypodensities". These two entities are in contra-distinction to each other.
synonym: "Periventricular cerebral white matter hypodensities" EXACT []
xref: UMLS:C4022720
is_a: HP:0007103 ! Hypointensity of cerebral white matter on MRI
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-04-25T03:00:01Z

[Term]
id: HP:0012795
name: Abnormal optic disc morphology
def: "A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination." [https://orcid.org/0000-0002-0736-9199]
comment: The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination.
xref: UMLS:C3808249
is_a: HP:0000587 ! Abnormal optic nerve morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-05-24T04:37:10Z

[Term]
id: HP:0012796
name: Increased cup-to-disc ratio
def: "An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disk. The optic disc has an orange-pink rim with a pale center (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells." [https://orcid.org/0000-0002-0736-9199, PMID:23557744]
comment: A cup to disk ratio of 0.3 is generally considered normal. Note that the ratio is measured in the vertical orientation unless otherwise specified.
synonym: "Elevated cup to disc ratio" EXACT uk_spelling []
synonym: "Elevated cup to disk ratio" EXACT []
synonym: "Increased cup disc ratio" EXACT uk_spelling []
synonym: "Increased cup disk ratio" EXACT []
synonym: "Optic cupping" EXACT []
xref: UMLS:C3805911
is_a: HP:0012795 ! Abnormal optic disc morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-05-24T04:43:52Z

[Term]
id: HP:0012797
name: Lymphatic vessel neoplasm
def: "A benign or malignant neoplasm arising from the lymphatic vessels." [NCIT:C3723]
synonym: "Lymphatic vessel tumor" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Lymphatic vessel tumour" EXACT uk_spelling []
xref: NCIT:C3262
xref: SNOMEDCT_US:115236002
xref: UMLS:C0206619
is_a: HP:0100742 ! Vascular neoplasm
is_a: HP:0100766 ! Abnormal lymphatic vessel morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-05-24T05:00:34Z

[Term]
id: HP:0012798
name: Pulmonary lymphangiomyomatosis
def: "Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls." [https://orcid.org/0000-0002-0736-9199]
comment: Pulmonary lymphangiomyomatosis is a manifestation of lymphangioleiomyomatosis, which may also affect extrapulmonary locations. It can be seen in tuberous sclerosis.
synonym: "Lymphangioleiomyomatosis" RELATED []
synonym: "Pulmonary myomatosis" EXACT []
xref: SNOMEDCT_US:73017001
xref: UMLS:C0238399
xref: UMLS:C0751674
is_a: HP:0012797 ! Lymphatic vessel neoplasm
is_a: HP:0100526 ! Neoplasm of the lung
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-05-24T05:00:46Z

[Term]
id: HP:0012799
name: Unilateral facial palsy
def: "One-sided weakness of the muscles of facial expression and eye closure." [https://orcid.org/0000-0002-0736-9199]
synonym: "Facial droop" EXACT layperson []
synonym: "Paralysis of one side of the face" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Unilateral facial muscle paralysis" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Unilateral facial muscle weakness" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Unilateral facial paralysis" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Unilateral facial weakness" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Weakness of one side of the face" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C0239516
xref: UMLS:C4022719
is_a: HP:0010628 ! Facial palsy
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-05-25T10:35:53Z

[Term]
id: HP:0012800
name: Accessory cranial suture
def: "A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant." [https://orcid.org/0000-0002-0736-9199, PMID:20496093]
comment: The parietal and occipital bones in particular are common regions for accessory sutures because of their multiple ossification centers. Accessory sutures can be explained on the basis of incomplete union of the two separate ossification centers. Accessory sutures usually will show a zigzag pattern with interdigitations and sclerotic borders similar to major calvarial sutures.
synonym: "Accessory fontanelle" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Extra cranial suture" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Extra fontanelle" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Supernumary cranial suture" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Supernumary fontanelle" NARROW [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4021067
xref: UMLS:C4022927
is_a: HP:0011329 ! Abnormality of cranial sutures
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-05-25T10:54:52Z

[Term]
id: HP:0012801
name: Narrow jaw
def: "Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective)." [https://orcid.org/0000-0002-0736-9199, PMID:19125436]
comment: The width of the jaw is measured from the right gonion to the left gonion using spreading calipers. The gonion is the point at the angle of the bony mandible where the ramus changes direction to become the body of the mandible. It faces inferiorly and medially and is best found by placing a finger over the outward facing angle and rolling the finger downwards and inwards.
synonym: "Narrow jaw" EXACT layperson []
synonym: "Narrow lower face" EXACT layperson []
synonym: "Narrow lower jaw" EXACT layperson []
synonym: "Narrow mandible" EXACT []
synonym: "Thin lower face" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thin lower jaw" RELATED layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4021066
xref: UMLS:C4280310
is_a: HP:0000277 ! Abnormal mandible morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-05-25T02:37:13Z

[Term]
id: HP:0012802
name: Broad jaw
def: "Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective)." [https://orcid.org/0000-0002-0736-9199, PMID:19125436]
comment: The lower jaw is measured from the right gonion to the left gonion using spreading calipers. The gonion is the point at the angle of the bony mandible where the ramus changes direction to become the body of the mandible. It faces inferiorly and medially and is best found by placing a finger over the outward facing angle and rolling the finger downwards and inwards. When a broad jaw is accompanied by a broad upper face the term Square face is used.
synonym: "Broad jaw" EXACT layperson []
synonym: "Broad lower face" EXACT layperson []
synonym: "Broad mandible" EXACT []
synonym: "Wide jaw" EXACT layperson []
synonym: "Wide mandible" EXACT []
xref: UMLS:C3281059
is_a: HP:0000277 ! Abnormal mandible morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-05-25T02:41:43Z

[Term]
id: HP:0012803
name: Anisometropia
def: "Inequality of refractive power of the two eyes." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:3289004
xref: UMLS:C0003081
is_a: HP:0000539 ! Abnormality of refraction
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-05-25T03:05:21Z

[Term]
id: HP:0012804
name: Corneal ulceration
def: "Disruption of the epithelial layer of the cornea with involvement of the underlying stroma." [https://orcid.org/0000-0002-0736-9199]
synonym: "Corneal ulcer" EXACT []
synonym: "Corneal ulcerations" EXACT []
xref: SNOMEDCT_US:91514001
xref: UMLS:C0010043
is_a: HP:0011495 ! Abnormal corneal epithelium morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-05-25T03:25:51Z

[Term]
id: HP:0012805
name: Iris transillumination defect
def: "Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris." [https://orcid.org/0000-0002-0736-9199, PMID:19920562]
comment: Initially, transillumination defects are usually slit-like, but if pigment loss increases, the defects may be become larger and irregularly shaped.
xref: UMLS:C1096099
is_a: HP:0008034 ! Abnormal iris pigmentation
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-05-25T03:43:06Z

[Term]
id: HP:0012806
name: Proboscis
def: "A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline." [https://orcid.org/0000-0002-0736-9199, PMID:19152422]
comment: A proboscis has a single cavity. It may be found in association with a malformed nose and absence of one or both nares.
xref: UMLS:C0687082
is_a: HP:0005105 ! Abnormal nasal morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-05-25T05:46:42Z

[Term]
id: HP:0012807
name: High insertion of columella
def: "Insertion of the posterior columella superior to the nasal base." [PMID:19152422]
comment: This feature is different from a convex Low hanging columella that has a normal insertion. It may be associated with a Short philtrum, but this should be assessed and coded separately. A low insertion is best appreciated when viewed from the side.
subset: hposlim_core
synonym: "Ala lower than columella" BROAD [https://orcid.org/0000-0001-5889-4463]
synonym: "Columella, high insertion" EXACT []
xref: UMLS:C4020909
is_a: HP:0009929 ! Abnormal columella morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-05-25T05:51:17Z

[Term]
id: HP:0012808
name: Abnormal nasal base norphology
def: "An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face." [https://orcid.org/0000-0002-0736-9199, PMID:19152422]
synonym: "Abnormal nasal base" EXACT layperson []
synonym: "Abnormality of base of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Anomaly of base of nose" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Anomaly of nasal base" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of base of nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Deformity of nasal base" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of base of nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Malformation of nasal base" NARROW layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4022718
is_a: HP:0005105 ! Abnormal nasal morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-05-25T05:56:47Z

[Term]
id: HP:0012809
name: Narrow nasal base
def: "Decreased distance between the attachments of the alae nasi to the face." [https://orcid.org/0000-0002-0736-9199, PMID:19152422]
comment: There is a marked difference in width of the nasal base depending on ethnic background.
synonym: "Decreased width of base of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased width of nasal base" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Narrow base of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Narrow nasal base" EXACT layperson []
synonym: "Thin base of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Thin nasal base" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4022717
is_a: HP:0012808 ! Abnormal nasal base norphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-05-25T05:58:16Z

[Term]
id: HP:0012810
name: Wide nasal base
def: "Increased distance between the attachments of the alae nasi to the face." [https://orcid.org/0000-0002-0736-9199, PMID:19152422]
comment: There is a marked difference in width of the nasal base depending on ethnic background.
synonym: "Broad base of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Broad nasal base" EXACT layperson []
synonym: "Increased width of base of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased width of nasal base" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Wide base of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Wide nasal base" EXACT layperson []
xref: UMLS:C1849667
is_a: HP:0012808 ! Abnormal nasal base norphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-05-25T05:59:12Z

[Term]
id: HP:0012811
name: Wide nasal ridge
def: "Increased width of the nasal ridge." [https://orcid.org/0000-0002-0736-9199, PMID:19152422]
comment: This feature should be assessed in a frontal view. There is no objective measure of width. This may give the impression of a Depressed nasal ridge, but this should be assessed in profile and separately coded. Marked widening of the nasal ridge may be difficult to distinguish from a Bifid nose.
synonym: "Broad dorsum of nose" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Broad nasal dorsum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Broad nasal ridge" RELATED layperson []
synonym: "Increased width of dorsum of nose" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased width of nasal dorsum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased width of nasal ridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Nasal ridge, wide" EXACT []
synonym: "Wide dorsum of nose" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Wide nasal dorsum" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Wide nasal ridge" EXACT layperson []
xref: UMLS:C4020718
is_a: HP:0011119 ! Abnormal nasal dorsum morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-05-25T10:38:03Z

[Term]
id: HP:0012812
name: Fullness of paranasal tissue
def: "Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues." [https://orcid.org/0000-0002-0736-9199, PMID:19152422]
comment: This feature is distinct from Wide nasal ridge and Wide nasal bridge.
synonym: "Fullness of tissue around the nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Hyperplasia of paranasal tissue" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypertrophy of paranasal tissue" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Laterally built up nose" EXACT []
synonym: "Paranasal fullness" EXACT []
synonym: "Thick paranasal tissue" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Thick tissue around the nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4021065
xref: UMLS:C4280308
xref: UMLS:C4280309
is_a: HP:0005105 ! Abnormal nasal morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-05-25T10:40:06Z

[Term]
id: HP:0012813
name: Unilateral breast hypoplasia
def: "Underdevelopment of the breast on one side only." [https://orcid.org/0000-0002-0736-9199]
synonym: "One underdeveloped breast" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C1844722
is_a: HP:0003187 ! Breast hypoplasia
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-05-26T08:11:58Z

[Term]
id: HP:0012814
name: Bilateral breast hypoplasia
def: "Underdevelopment of the breast on both sides." [https://orcid.org/0000-0002-0736-9199]
synonym: "Two underdeveloped breasts" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4022716
is_a: HP:0003187 ! Breast hypoplasia
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-05-26T08:12:34Z

[Term]
id: HP:0012815
name: Hypoplastic female external genitalia
def: "Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris)." [https://orcid.org/0000-0002-0736-9199]
synonym: "Underdeveloped female external genitalia" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: UMLS:C4022715
is_a: HP:0000055 ! Abnormal female external genitalia morphology
is_a: HP:0003241 ! External genital hypoplasia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-05-27T08:14:55Z

[Term]
id: HP:0012816
name: Right ventricular noncompaction cardiomyopathy
def: "A predominantly right ventricular variant of isolated noncompaction cardiomyopathy." [https://orcid.org/0000-0002-0736-9199, PMID:23921774]
xref: UMLS:C4022714
is_a: HP:0012817 ! Noncompaction cardiomyopathy
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-05-28T08:35:01Z

[Term]
id: HP:0012817
name: Noncompaction cardiomyopathy
def: "A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber." [https://orcid.org/0000-0002-0736-9199, PMID:15210614, PMID:24282766]
comment: Noncompaction of the ventricular myocardium is a cardiomyopathy thought to be caused by arrest of normal embryogenesis of the endocardium and myocardium. This abnormality is often associated with other congenital cardiac defects, but it is also seen in the absence of other cardiac anomalies. During early embryonic development, the myocardium is a loose network of interwoven fibers separated by deep recesses that link the myocardium with the left ventricular cavity. Gradual compaction of this spongy meshwork of fibers and intertrabecular recesses, or sinusoids, occurs between weeks 5 and 8 of embryonic life, proceeding from the epicardium to endocardium and from the base of the heart to the apex. Noncompaction of the ventricular myocardium (NVM) is an uncommon finding. It is thought to be caused by arrest of the normal process of endomyocardial morphogenesis. The left ventricle is uniformly affected, but biventricular noncompaction has been reported, with right ventricular noncompaction described in less than one-half of patients. Because of difficulty in distinguishing normal variants in the highly trabeculated right ventricle from the pathological noncompacted ventricle, several authors dispute the existence of right ventricular noncompaction [PMID:15210614].
synonym: "Noncompaction of the ventricular myocardium" EXACT []
synonym: "Spongiform cardiomyopathy" EXACT []
xref: UMLS:C1839832
is_a: HP:0001638 ! Cardiomyopathy
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-05-28T08:37:34Z

[Term]
id: HP:0012818
name: Biventricular noncompaction cardiomyopathy
def: "Noncompaction cardiomyopathy that affects both ventricles." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022713
is_a: HP:0012817 ! Noncompaction cardiomyopathy
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-05-28T08:49:23Z

[Term]
id: HP:0012819
name: Myocarditis
def: "Inflammation of the myocardium." [https://orcid.org/0000-0002-0736-9199, PMID:21304213, PMID:22185868, PMID:22361396]
comment: Myocarditis can be caused by a variety of bacterial and viral infections. Enteroviruses, especially coxsackievirus B, and adenovirus and parvovirus B19 are often associated with acute myocarditis. Exposure to drug treatment, physical stimuli such as radiation and heat, metabolic disorders, immune disorders, and pregnancy are also causes of myocarditis. Many cases of myocarditis are idiopathic. Myocarditis presents with non-specific symptoms including chest pain, dyspnea, and palpitations, and thus often mimics more common disorders such as coronary artery disease. In some patients, cardiac MRI and endomyocardial biopsy can help identify myocarditis, predict risk of cardiovascular events, and guide treatment.
synonym: "Inflammation of heart muscle" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:50920009
xref: UMLS:C0027059
is_a: HP:0001637 ! Abnormal myocardium morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-05-28T09:01:32Z

[Term]
id: HP:0012820
name: Bilateral vocal cord paralysis
def: "A loss of the ability to move the vocal fold on both sides." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C2146481
is_a: HP:0001605 ! Vocal cord paralysis
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-05-28T09:22:32Z

[Term]
id: HP:0012821
name: Unilateral vocal cord paresis
def: "Decreased strength of the vocal fold on one side." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C0751577
is_a: HP:0001604 ! Vocal cord paresis
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-05-28T09:25:11Z

[Term]
id: HP:0012822
name: Bilateral vocal cord paresis
def: "Decreased strength of the vocal fold on both sides." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C0751574
is_a: HP:0001604 ! Vocal cord paresis
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-05-28T09:25:43Z

[Term]
id: HP:0012823
name: Clinical modifier
alt_id: HP:0000004
def: "This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects." [https://orcid.org/0000-0002-0736-9199]
comment: Note that some of the terms, such as Intellectual disability, have children terms such as Severe intellectual disability that represent precomposed combinations of modifiers and phenotypic abnormality terms. This done where the medical community commonly uses these terms with a fixed meaning (for instance, the Intellectual disability terms are used with specific IQ ranges). For computational reasoning, the semantics are intended to be the same as if there was a combination of the phenotype term and the clinical modifier term.
synonym: "Phenotypic modifier" EXACT []
xref: UMLS:C4021064
is_a: HP:0000001 ! All
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-06T06:34:24Z

[Term]
id: HP:0012824
name: Severity
def: "The intensity or degree of a manifestation." [https://orcid.org/0000-0002-0736-9199]
comment: Synonymous with PATO:0000049, intensity.
synonym: "Intensity" EXACT []
xref: SNOMEDCT_US:103370009
xref: UMLS:C0522510
is_a: HP:0012823 ! Clinical modifier
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-06T06:39:22Z

[Term]
id: HP:0012825
name: Mild
def: "Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean." [https://orcid.org/0000-0002-0736-9199]
comment: PATO:0000394, mild.
synonym: "Mild" EXACT layperson []
xref: SNOMEDCT_US:446411000124101
xref: UMLS:C1513302
is_a: HP:0012824 ! Severity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-06T06:41:33Z

[Term]
id: HP:0012826
name: Moderate
def: "Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean." [https://orcid.org/0000-0002-0736-9199]
comment: PATO:0000395, moderate.
xref: SNOMEDCT_US:446421000124109
xref: SNOMEDCT_US:6736007
xref: UMLS:C0205081
is_a: HP:0012824 ! Severity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-06T06:48:12Z

[Term]
id: HP:0012827
name: Borderline
def: "Having a minor degree of severity that is considered to be on the boundary between the normal and the abnormal ranges. For quantitative traits, a deviation of that is less than two standard deviations from the appropriate population mean." [https://orcid.org/0000-0002-0736-9199]
comment: PATO:0000394, mild.
synonym: "Borderline" EXACT layperson []
xref: UMLS:C0205189
is_a: HP:0012824 ! Severity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-06T06:52:16Z

[Term]
id: HP:0012828
name: Severe
def: "Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean." [https://orcid.org/0000-0002-0736-9199]
comment: PATO:0000396, severe.
synonym: "Severe" EXACT layperson []
xref: SNOMEDCT_US:24484000
xref: UMLS:C0205082
is_a: HP:0012824 ! Severity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-06T07:03:17Z

[Term]
id: HP:0012829
name: Profound
def: "Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean." [https://orcid.org/0000-0002-0736-9199]
synonym: "Profound" EXACT layperson []
xref: SNOMEDCT_US:795002
xref: UMLS:C0439808
is_a: HP:0012824 ! Severity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-06T07:05:46Z

[Term]
id: HP:0012830
name: Position
def: "The anatomical localization of the specified phenotypic abnormality." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4019252
is_a: HP:0012823 ! Clinical modifier
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-06T07:18:35Z

[Term]
id: HP:0012831
name: Laterality
def: "The localization with respect to the side of the body of the specified phenotypic abnormality." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:272741003
xref: UMLS:C0332304
is_a: HP:0012830 ! Position
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-06T07:19:19Z

[Term]
id: HP:0012832
name: Bilateral
def: "Being present on both sides of the body." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:51440002
xref: UMLS:C0238767
is_a: HP:0012831 ! Laterality
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-06T07:20:42Z

[Term]
id: HP:0012833
name: Unilateral
def: "Being present on only the left or only the right side of the body." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:66459002
xref: UMLS:C0205092
is_a: HP:0012831 ! Laterality
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-06T07:21:12Z

[Term]
id: HP:0012834
name: Right
def: "Being located on the right side of the body." [https://orcid.org/0000-0002-0736-9199]
synonym: "Right-sided" EXACT []
xref: SNOMEDCT_US:264180000
xref: UMLS:C0444532
is_a: HP:0012831 ! Laterality
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-06T07:21:46Z

[Term]
id: HP:0012835
name: Left
def: "Being located on the left side of the body." [https://orcid.org/0000-0002-0736-9199]
synonym: "Left-sided" EXACT []
xref: SNOMEDCT_US:263795004
xref: UMLS:C0443246
is_a: HP:0012831 ! Laterality
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-06T07:23:17Z

[Term]
id: HP:0012836
name: Spatial pattern
def: "The pattern by which a phenotype affects one or more regions of the body." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022711
is_a: HP:0012830 ! Position
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-06T07:25:02Z

[Term]
id: HP:0012837
name: Generalized
def: "Affecting all regions without specificity of distribution." [https://orcid.org/0000-0002-0736-9199]
comment: PATO:0002403.
synonym: "Generalised" EXACT uk_spelling []
xref: SNOMEDCT_US:60132005
xref: UMLS:C0205246
is_a: HP:0012836 ! Spatial pattern
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-06T07:25:58Z

[Term]
id: HP:0012838
name: Localized
def: "Being confined or restricted to a particular location." [https://orcid.org/0000-0002-0736-9199]
comment: PATO:0000627.
synonym: "Localised" EXACT uk_spelling []
synonym: "Localized" EXACT layperson []
xref: SNOMEDCT_US:255471002
xref: UMLS:C0392752
is_a: HP:0012836 ! Spatial pattern
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-06T07:27:48Z

[Term]
id: HP:0012839
name: Distal
def: "Localized away from the central point of the body." [https://orcid.org/0000-0002-0736-9199]
synonym: "Outermost" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: SNOMEDCT_US:46053002
xref: UMLS:C0205108
is_a: HP:0012836 ! Spatial pattern
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-06T07:29:38Z

[Term]
id: HP:0012840
name: Proximal
def: "Localized close to the central point of the body." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:40415009
xref: UMLS:C0205107
is_a: HP:0012836 ! Spatial pattern
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-06T07:30:42Z

[Term]
id: HP:0012841
name: Retinal vascular tortuosity
def: "The presence of an increased number of twists and turns of the retinal blood vessels." [https://orcid.org/0000-0002-0736-9199]
synonym: "Tortuous retinal vessels" EXACT []
xref: UMLS:C1860475
is_a: HP:0008046 ! Abnormal retinal vascular morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-06T07:53:56Z

[Term]
id: HP:0012842
name: Skin appendage neoplasm
def: "A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands." [NCIT:C4463]
synonym: "Skin adnexal neoplasm" EXACT []
synonym: "Skin adnexal tumor" EXACT []
synonym: "Skin adnexal tumour" EXACT uk_spelling []
xref: NCIT:C3262
xref: SNOMEDCT_US:126489007
xref: SNOMEDCT_US:55681005
xref: UMLS:C0345988
is_a: HP:0008069 ! Neoplasm of the skin
is_a: HP:0011138 ! Abnormal skin adnexa morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-06T08:02:51Z

[Term]
id: HP:0012843
name: Hair follicle neoplasm
def: "An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth." [https://orcid.org/0000-0002-0736-9199, NCIT:C7367]
xref: NCIT:C3262
xref: SNOMEDCT_US:44155009
xref: UMLS:C0859920
is_a: HP:0012842 ! Skin appendage neoplasm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-06T08:03:49Z

[Term]
id: HP:0012844
name: Trichilemmoma
def: "A benign tumor originating from the outer root sheath of the hair follicle." [HPO_CONTRIBUTOR:UToronto_htrang]
synonym: "Tricholemmoma" EXACT []
xref: SNOMEDCT_US:274900003
xref: SNOMEDCT_US:46199002
xref: UMLS:C0334263
is_a: HP:0012843 ! Hair follicle neoplasm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-06T08:05:05Z

[Term]
id: HP:0012845
name: Single trichilemmoma
def: "Presence of a unitary trichilemmoma, a benign tumor originating from the outer root sheath of the hair follicle." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022710
is_a: HP:0012844 ! Trichilemmoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-06T08:06:37Z

[Term]
id: HP:0012846
name: Multiple trichilemmomata
def: "Presence of multiple trichilemmomata, a benign tumor originating from the outer root sheath of the hair follicle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Multiple trichilemmomas" EXACT []
xref: UMLS:C4021063
is_a: HP:0012844 ! Trichilemmoma
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-06T08:07:30Z

[Term]
id: HP:0012847
name: Epilepsia partialis continua
def: "Epilepsia partialis continua (also called Kojevnikov's or Kozhevnikov's epilepsia) is a type of focal motor status epilepticus characterized by repeated stereotyped simple motor manifestations such as jerks, typically of a limb or the face, recurring every few seconds or minutes for extended periods (days or years)." [HPO_CONTRIBUTOR:UToronto_htrang, https://orcid.org/0000-0002-1735-8178, PMID:26336950]
comment: The focal motor features may exhibit a Jacksonian march and a post-ictal (Todd's) paresis may be seen in the affected body part.
synonym: "Epilepsia partialis continua of Kojevnikov" EXACT []
synonym: "Kojevnikov's epilepsia" EXACT []
synonym: "Kozhevnikov's epilepsia" EXACT []
xref: SNOMEDCT_US:241006
xref: UMLS:C0085543
is_a: HP:0032663 ! Focal motor status epilepticus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-06T08:09:22Z

[Term]
id: HP:0012848
name: Small intestinal stenosis
def: "The narrowing or partial blockage of a portion of the small intestine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Narrowing of small intestine" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C0151924
is_a: HP:0002244 ! Abnormal small intestine morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-07T09:00:19Z

[Term]
id: HP:0012849
name: Small intestinal bleeding
def: "Bleeding from the small intestine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Small intestinal bleeding" EXACT layperson []
synonym: "Small intestinal haemorrhage" EXACT uk_spelling []
synonym: "Small intestinal hemorrhage" EXACT []
xref: SNOMEDCT_US:70375006
xref: UMLS:C0520561
is_a: HP:0002244 ! Abnormal small intestine morphology
is_a: HP:0002584 ! Intestinal bleeding
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-07T09:12:22Z

[Term]
id: HP:0012850
name: Small intestinal dysmotility
def: "Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:253768006
xref: UMLS:C0345200
is_a: HP:0002579 ! Gastrointestinal dysmotility
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-07T09:15:02Z

[Term]
id: HP:0012851
name: Colonic stenosis
def: "A narrowing of a segment of colon whereby bowel continuity is maintained." [https://orcid.org/0000-0002-0736-9199]
synonym: "Narrowing of the colon" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Stenosis of the colon" EXACT []
xref: SNOMEDCT_US:19132000
xref: SNOMEDCT_US:8543007
xref: UMLS:C0267466
is_a: HP:0002250 ! Abnormal large intestine morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-07T09:22:41Z

[Term]
id: HP:0012852
name: Hepatic bridging fibrosis
def: "Hepatic fibrosis that reaches from a portal area to another portal area." [https://orcid.org/0000-0002-0736-9199, PMID:14568255]
xref: UMLS:C4022709
is_a: HP:0001395 ! Hepatic fibrosis
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-07T09:27:43Z

[Term]
id: HP:0012853
name: Scrotal hypospadias
def: "Hypospadias with location of the urethral meatus in the scrotum." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:702462000
xref: UMLS:C2197691
is_a: HP:0000047 ! Hypospadias
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-08T10:56:11Z

[Term]
id: HP:0012854
name: Midshaft hypospadias
def: "Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis." [https://orcid.org/0000-0002-0736-9199, PMID:12371222]
xref: UMLS:C4022708
is_a: HP:0003244 ! Penile hypospadias
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-08T10:57:24Z

[Term]
id: HP:0012855
name: Scrotal hyperpigmentation
def: "Increased pigmentation (skin color) of the scrotum." [https://orcid.org/0000-0002-0736-9199]
comment: This finding may be normal variation but can also be seen with congenital adrenal hyperplasia and other causes of excessive adrenocorticotrophic hormone (ACTH) stimulation.
synonym: "Hyperpigmentation of the scrotum" EXACT []
synonym: "Hyperpigmented scrotum" EXACT []
synonym: "Increased pigmentation in scrotum" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4021062
is_a: HP:0000045 ! Abnormal scrotum morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-08T11:03:38Z

[Term]
id: HP:0012856
name: Abnormal scrotal rugation
def: "Anomaly of the folded ridges (wrinkles) of skin of the scrotum." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022707
is_a: HP:0000045 ! Abnormal scrotum morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-08T11:10:00Z

[Term]
id: HP:0012857
name: Increased scrotal rugation
def: "Increased number or density of the folded ridges (wrinkles) of skin of the scrotum." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022706
is_a: HP:0012856 ! Abnormal scrotal rugation
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-08T11:12:46Z

[Term]
id: HP:0012858
name: Decreased scrotal rugation
def: "Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022705
is_a: HP:0012856 ! Abnormal scrotal rugation
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-08T11:14:00Z

[Term]
id: HP:0012859
name: Esophageal leukoplakia
def: "A white patch or plaque occurring on the surface of the esophageal mucous membranes that cannot be rubbed off and cannot be characterized clinically as any other disease." [HPO_CONTRIBUTOR:UToronto_htrang, PMID:23765246]
synonym: "Esophageal epidermoid metaplasia" RELATED []
xref: SNOMEDCT_US:89057003
xref: UMLS:C0267095
is_a: HP:0002031 ! Abnormal esophagus morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-08T11:16:53Z

[Term]
id: HP:0012860
name: Testicular fibrosis
def: "Formation of excess connective tissue in the testicle." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fibrotic testes" EXACT []
synonym: "Fibrotic testicle" EXACT []
xref: UMLS:C4021061
is_a: HP:0000035 ! Abnormal testis morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-09T09:29:22Z

[Term]
id: HP:0012861
name: Ovotestis
def: "A gonad that contains both ovarian follicles and testicular tubular elements." [https://orcid.org/0000-0002-0736-9199]
comment: An ovotestis is usually observed to have connective tissue separating the ovarian components from the testicular components, but ovarian and testicular elements may be intermixed.
xref: SNOMEDCT_US:18978002
xref: UMLS:C0266361
is_a: HP:0000062 ! Ambiguous genitalia
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-09T09:48:37Z

[Term]
id: HP:0012862
name: Abnormal germ cell morphology
def: "Any structural anomaly of a reproductive cell." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal shape of a reproductive cell" EXACT []
synonym: "Abnormally shaped germ cell" EXACT []
synonym: "Abnormally shaped reproductive cell" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4022704
is_a: HP:0012243 ! Abnormal reproductive system morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-09T10:01:49Z

[Term]
id: HP:0012863
name: Abnormal male germ cell morphology
def: "A structural anomaly of a male reproductive cell." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4022703
is_a: HP:0012862 ! Abnormal germ cell morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-09T10:05:33Z

[Term]
id: HP:0012864
name: Abnormal sperm morphology
def: "A structural anomaly of sperm." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal shape of sperm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Teratospermia" EXACT []
synonym: "Teratozoospermia" EXACT []
xref: SNOMEDCT_US:236817003
xref: UMLS:C0403824
is_a: HP:0012863 ! Abnormal male germ cell morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-09T10:07:03Z

[Term]
id: HP:0012865
name: Abnormal sperm head morphology
def: "A structural abnormality of the sperm head." [https://orcid.org/0000-0002-0736-9199, PMID:22198630]
synonym: "Sperm head anomaly" EXACT []
xref: UMLS:C4022702
is_a: HP:0012864 ! Abnormal sperm morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-09T10:48:21Z

[Term]
id: HP:0012866
name: Abnormal sperm neck morphology
def: "A structural abnormality of the sperm neck." [https://orcid.org/0000-0002-0736-9199, PMID:22198630]
comment: The neck of spermatozoa is the site of articulation between the head and tail, and comprises the sperm centriole and connecting piece.
synonym: "Sperm neck anomaly" EXACT []
xref: UMLS:C4022701
is_a: HP:0012864 ! Abnormal sperm morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-09T10:50:20Z

[Term]
id: HP:0012867
name: Abnormal sperm mid-piece morphology
def: "A structural abnormality of the sperm mid-piece." [https://orcid.org/0000-0002-0736-9199]
synonym: "Sperm mid-piece anomaly" EXACT []
xref: UMLS:C4022700
is_a: HP:0012864 ! Abnormal sperm morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-09T10:50:37Z

[Term]
id: HP:0012868
name: Abnormal sperm tail morphology
def: "A structural abnormality of the sperm tail." [https://orcid.org/0000-0002-0736-9199, PMID:22198630]
comment: The ultrastructure of the mammalian flagellum is highly conserved and is structurally divided into four major parts: the connecting piece, the mid piece, the principal piece, and the end piece. The axoneme extends from the remnant of the centriole attached to the implantation fossa of the nucleus and is the core structure along the length of the sperm tail. Defective sperm flagella are the principal cause of sperm motility disorders.
synonym: "Sperm tail anomaly" EXACT []
xref: UMLS:C4022699
is_a: HP:0012864 ! Abnormal sperm morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-09T10:50:50Z

[Term]
id: HP:0012869
name: Acephalic spermatozoa
def: "Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head." [https://orcid.org/0000-0002-0736-9199, PMID:10402395]
xref: UMLS:C4022698
is_a: HP:0012865 ! Abnormal sperm head morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-09T10:57:11Z

[Term]
id: HP:0012870
name: Vanishing testis
def: "A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction." [https://orcid.org/0000-0002-0736-9199, PMID:22985611]
synonym: "Testicular regression syndrome" RELATED []
synonym: "Vanishing testis" EXACT layperson []
xref: SNOMEDCT_US:53599007
xref: UMLS:C0266427
is_a: HP:0000035 ! Abnormal testis morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-09T11:00:13Z

[Term]
id: HP:0012871
name: Varicocele
def: "A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum." [https://orcid.org/0000-0002-0736-9199]
comment: "vaginal" refers to the tunica vaginalis of the testis, not to the vagina.
synonym: "Vaginal varicocele" EXACT []
xref: SNOMEDCT_US:46871008
xref: SNOMEDCT_US:51070004
xref: UMLS:C0042341
is_a: HP:0000045 ! Abnormal scrotum morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-09T11:07:41Z

[Term]
id: HP:0012872
name: Abnormal vas deferens morphology
def: "A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct." [https://orcid.org/0000-0002-0736-9199, MP:0002769]
xref: UMLS:C4022697
is_a: HP:0000022 ! Abnormal male internal genitalia morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-09T11:13:37Z

[Term]
id: HP:0012873
name: Absent vas deferens
def: "Aplasia (congenital absence) of the vas deferens." [https://orcid.org/0000-0002-0736-9199]
synonym: "Absent deferent duct" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Absent ductus deferens" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Congenital absence of the vas deferens" EXACT []
xref: SNOMEDCT_US:300506000
xref: SNOMEDCT_US:5286009
xref: SNOMEDCT_US:702610009
xref: UMLS:C0266444
is_a: HP:0012872 ! Abnormal vas deferens morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-09T11:14:47Z

[Term]
id: HP:0012874
name: Abnormal male reproductive system physiology
def: "An abnormal functionality of the male genital system." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormal male genital system physiology" RELATED []
xref: UMLS:C4020716
is_a: HP:0000080 ! Abnormality of reproductive system physiology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-09T11:20:46Z

[Term]
id: HP:0012875
name: Abnormal ejaculation
def: "Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:386674000
xref: UMLS:C2937350
is_a: HP:0012874 ! Abnormal male reproductive system physiology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-09T11:21:29Z

[Term]
id: HP:0012876
name: Premature ejaculation
def: "The emission of semen and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration." [https://orcid.org/0000-0002-0736-9199]
synonym: "Premature ejaculation" EXACT layperson []
xref: SNOMEDCT_US:44001008
xref: UMLS:C0033038
is_a: HP:0012875 ! Abnormal ejaculation
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-09T11:24:37Z

[Term]
id: HP:0012877
name: Retrograde ejaculation
def: "The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:50112006
xref: UMLS:C0403673
is_a: HP:0012875 ! Abnormal ejaculation
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-09T11:25:24Z

[Term]
id: HP:0012878
name: Retarded ejaculation
def: "Difficulty of a male in achieving orgasm." [https://orcid.org/0000-0002-0736-9199, PMID:24528812]
synonym: "Delayed ejaculation" EXACT layperson []
xref: SNOMEDCT_US:15405008
xref: UMLS:C0234047
is_a: HP:0012875 ! Abnormal ejaculation
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-09T11:29:28Z

[Term]
id: HP:0012879
name: Anejaculation
def: "Inability to ejaculate." [https://orcid.org/0000-0002-0736-9199, PMID:24528812]
synonym: "Ejaculatory incompetence" EXACT []
xref: SNOMEDCT_US:248782001
xref: SNOMEDCT_US:42288005
xref: UMLS:C0278106
is_a: HP:0012875 ! Abnormal ejaculation
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-09T11:33:16Z

[Term]
id: HP:0012880
name: Abnormal labia minora morphology
def: "An anomaly of the labia minora, the folds of skin between the outer labia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the inner vaginal lips" EXACT layperson []
synonym: "Abnormality of the labia minora" EXACT []
xref: UMLS:C4022696
is_a: HP:0000058 ! Abnormal labia morphology
creation_date: 2014-06-11T07:44:31Z

[Term]
id: HP:0012881
name: Abnormal labia majora morphology
def: "An anomaly of the outer labia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the labia majora" EXACT []
synonym: "Abnormality of vaginal lips" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4022695
is_a: HP:0000058 ! Abnormal labia morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-11T07:46:41Z

[Term]
id: HP:0012882
name: Hyperplastic labia majora
def: "Overgrowth of the outer labia." [https://orcid.org/0000-0002-0736-9199]
synonym: "Enlarged labia majora" EXACT []
synonym: "Hyperplasia of labia majora" EXACT []
xref: UMLS:C4021060
is_a: HP:0012881 ! Abnormal labia majora morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-11T07:54:42Z

[Term]
id: HP:0012883
name: Fallopian tube cyst
def: "A fluid filled sac located in the Fallopian tube." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:59401005
xref: UMLS:C0269173
is_a: HP:0011027 ! Abnormal fallopian tube morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-11T08:00:04Z

[Term]
id: HP:0012884
name: Fallopian tube torsion
def: "A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation." [https://orcid.org/0000-0002-0736-9199, PMID:24251052]
comment: Fallopian tube torsion, though rare, should be considered in women of reproductive age with unilateral pelvic pain. Early diagnostic laparoscopy is important for an accurate diagnosis and could salvage the tube.
synonym: "Twisted fallopian tube" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:46946009
xref: UMLS:C0269169
is_a: HP:0011027 ! Abnormal fallopian tube morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-11T08:01:57Z

[Term]
id: HP:0012885
name: Fallopian tube duplication
def: "The presence of a supernumerary Fallopian tube." [https://orcid.org/0000-0002-0736-9199, PMID:23532389]
comment: Accessory fallopian tube is the congenital anomaly attached to the ampullary part of main tube. This accessory tube is common site of pyosalpinx, hydrosalpinx, cystic swelling and torsion.
synonym: "Accessory fallopian tube" EXACT []
xref: SNOMEDCT_US:48672005
xref: UMLS:C0266375
is_a: HP:0011027 ! Abnormal fallopian tube morphology
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-11T08:05:41Z

[Term]
id: HP:0012886
name: Hemorrhagic ovarian cyst
def: "An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst." [https://orcid.org/0000-0002-0736-9199, PMID:12928726]
comment: The clinical signs and symptoms of hemorrhagic ovarian cyst (HOC) are variable and include such patients as asymptomatic cases or patients showing symptoms of acute abdomen. HOC is detected as pelvic masses by ultrasonography, but it is often misdiagnosed with other organic masses because of its variable clinical and sonographic findings, and in some cases may lead to laparotomy.
xref: SNOMEDCT_US:119420007
xref: UMLS:C0473311
is_a: HP:0000138 ! Ovarian cyst
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-11T09:26:15Z

[Term]
id: HP:0012887
name: Ovarian serous cystadenoma
def: "A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue." [https://orcid.org/0000-0002-0736-9199, PMID:23766763]
comment: Ovarian serous cystadenoma HAS a malignant potential several times greater than that of mucinous cystadenoma. It can be unilocular, parvilocular, or multilocular. It is often bilateral and papillary. The cysts may vary greatly in size.
synonym: "Serous ovarian cyst" RELATED []
xref: SNOMEDCT_US:119421006
xref: UMLS:C0346170
xref: UMLS:C4020715
is_a: HP:0000138 ! Ovarian cyst
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-11T09:32:06Z

[Term]
id: HP:0012888
name: Abnormal uterine cervix morphology
def: "An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix." [https://orcid.org/0000-0002-0736-9199]
synonym: "Abnormality of the uterine cervix" EXACT []
xref: UMLS:C4022694
is_a: HP:0000130 ! Abnormality of the uterus
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-11T09:40:02Z

[Term]
id: HP:0012889
name: Cervical endometriosis
def: "Abnormal growth of endometrial cells (which are normally limited to the uterus) within the cervix." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:61640006
xref: UMLS:C0269107
is_a: HP:0012888 ! Abnormal uterine cervix morphology
is_a: HP:0030127 ! Endometriosis
property_value: terms:creator https://orcid.org/0000-0002-6996-5279
creation_date: 2014-06-11T09:42:02Z

[Term]
id: HP:0012890
name: Posteriorly placed anus
def: "Posterior malposition of the anus." [HPO_CONTRIBUTOR:UToronto_htrang]
xref: UMLS:C4022693
is_a: HP:0004397 ! Ectopic anus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-23T10:55:41Z

[Term]
id: HP:0012891
name: High posterior hairline
def: "Hair on the neck extends less inferiorly than usual." [HPO_CONTRIBUTOR:UToronto_htrang]
synonym: "High hairline at back of head" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4022692
is_a: HP:0030141 ! Abnormality of the posterior hairline
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-23T10:57:10Z

[Term]
id: HP:0012892
name: Facial muscle hypertrophy
def: "Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve)." [HPO_CONTRIBUTOR:UToronto_htrang]
synonym: "Hyperplasia of facial muscles" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased size of facial muscles" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Large facial muscles" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4022691
xref: UMLS:C4280307
is_a: HP:0000301 ! Abnormality of facial musculature
is_a: HP:0003712 ! Skeletal muscle hypertrophy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-23T10:58:42Z

[Term]
id: HP:0012893
name: Neck muscle hypertrophy
def: "Muscle hypertrophy affecting the muscles of the neck." [HPO_CONTRIBUTOR:UToronto_htrang]
synonym: "Hyperplasia of neck muscles" RELATED [https://orcid.org/0000-0001-5889-4463]
synonym: "Hypertrophy of cervical muscles" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Increased size of neck muscles" BROAD layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Large neck muscles" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Overgrowth of neck muscles" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4022690
xref: UMLS:C4280306
is_a: HP:0003712 ! Skeletal muscle hypertrophy
is_a: HP:0011006 ! Abnormal morphology of the musculature of the neck
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-23T10:59:17Z

[Term]
id: HP:0012894
name: Paraspinal muscle hypertrophy
def: "Muscle hypertrophy affecting the paraspinal muscles." [HPO_CONTRIBUTOR:UToronto_htrang]
xref: UMLS:C4022689
is_a: HP:0003712 ! Skeletal muscle hypertrophy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-23T10:59:48Z

[Term]
id: HP:0012895
name: Scapular muscle hypertrophy
def: "Muscle hypertrophy affecting the scapular muscles." [HPO_CONTRIBUTOR:UToronto_htrang]
xref: UMLS:C4022688
is_a: HP:0003712 ! Skeletal muscle hypertrophy
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-23T11:00:11Z

[Term]
id: HP:0012896
name: Abnormal motor evoked potentials
def: "An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways." [https://orcid.org/0000-0002-0736-9199, PMID:10402095]
xref: UMLS:C4022687
is_a: HP:0430106 ! Abnormal brain-evoked potentials
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-23T11:04:24Z

[Term]
id: HP:0012897
name: Abnormal upper-limb motor evoked potentials
def: "An anomaly identified by motor evoked potentials (MEPs) in the arm." [HPO_CONTRIBUTOR:UToronto_htrang]
synonym: "Abnormal motor evoked potentials in the upper limb" EXACT []
xref: UMLS:C4021059
is_a: HP:0012896 ! Abnormal motor evoked potentials
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-23T11:08:22Z

[Term]
id: HP:0012898
name: Abnormal lower-limb motor evoked potentials
def: "An anomaly identified by motor evoked potentials (MEPs) in the leg." [HPO_CONTRIBUTOR:UToronto_htrang]
synonym: "Abnormal motor evoked potentials in the lower limb" EXACT []
xref: UMLS:C4021058
is_a: HP:0012896 ! Abnormal motor evoked potentials
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-23T11:09:22Z

[Term]
id: HP:0012899
name: Handgrip myotonia
def: "Difficulty releasing one's grip associated with prolonged first handgrip relaxation times." [HPO_CONTRIBUTOR:UToronto_htrang, PMID:22987687]
synonym: "Grip myotonia" EXACT []
xref: UMLS:C1868623
is_a: HP:0002486 ! Myotonia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-23T11:10:53Z

[Term]
id: HP:0012900
name: Myotonia of the face
def: "Slowed relaxation of muscles in the face." [HPO_CONTRIBUTOR:UToronto_htrang]
xref: UMLS:C4022686
is_a: HP:0002486 ! Myotonia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-23T11:14:55Z

[Term]
id: HP:0012901
name: Myotonia of the jaw
def: "Slowed relaxation of muscles in the jaw." [HPO_CONTRIBUTOR:UToronto_htrang]
xref: UMLS:C4022685
is_a: HP:0002486 ! Myotonia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-23T11:18:29Z

[Term]
id: HP:0012902
name: Myotonia of the lower limb
def: "Slowed relaxation of muscles in the leg." [HPO_CONTRIBUTOR:UToronto_htrang]
xref: UMLS:C4022684
is_a: HP:0002486 ! Myotonia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-23T11:18:59Z

[Term]
id: HP:0012903
name: Myotonia of the upper limb
def: "Slowed relaxation of muscles in the arm." [HPO_CONTRIBUTOR:UToronto_htrang]
xref: UMLS:C4022683
is_a: HP:0002486 ! Myotonia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-23T11:19:18Z

[Term]
id: HP:0012904
name: Cold-sensitive myotonia
def: "An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold." [HPO_CONTRIBUTOR:UToronto_htrang, PMID:14617673]
xref: UMLS:C4022682
is_a: HP:0002486 ! Myotonia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-23T11:20:32Z

[Term]
id: HP:0012905
name: Euryblepharon
def: "Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening." [https://orcid.org/0000-0002-0736-9199, PMID:15249382, PMID:15530943, PMID:24719364]
comment: The palpebral fissure length may be increased with an enlargement of the palpebral aperture. The lateral part is usually more everted defining euryblepharon. The whole length eversion of the lower lid defines congenital ectropion. Euryblepharon is characteristic of the Kabuki syndrome.
synonym: "Kabuki syndrome eyelids" RELATED [https://orcid.org/0000-0001-5889-4463]
xref: SNOMEDCT_US:400954002
xref: UMLS:C1303001
xref: UMLS:C4280305
is_a: HP:0000492 ! Abnormal eyelid morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2014-06-23T11:43:42Z

[Term]
id: HP:0020006
name: Ciliary body coloboma
def: "A coloboma of the ciliary body." []
xref: UMLS:C4072884
is_a: HP:0000589 ! Coloboma

[Term]
id: HP:0020034
name: Diffuse
def: "A spatial pattern that is spread out, i.e., not localized." [https://orcid.org/0000-0002-0736-9199]
xref: SNOMEDCT_US:19648000
xref: UMLS:C0205219
is_a: HP:0012836 ! Spatial pattern

[Term]
id: HP:0020035
name: Lower limb dysmetria
def: "A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg." [https://orcid.org/0000-0002-2353-596X, PMID:25573808]
is_a: HP:0002406 ! Limb dysmetria
property_value: dc:date "2017-10-13T12:24:09Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020036
name: Upper limb dysmetria
def: "A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm." [https://orcid.org/0000-0002-2353-596X, PMID:20301629]
is_a: HP:0002406 ! Limb dysmetria
property_value: dc:date "2017-10-13T12:28:26Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020037
name: Astasia
def: "A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength." [https://orcid.org/0000-0002-2353-596X, PMID:27821973]
is_a: HP:0100022 ! Abnormality of movement
property_value: dc:date "2017-10-13T12:38:30Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020038
name: Vertebrobasilar dolichoectasia
def: "Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm." [PMID:24765483]
comment: The basilar artery arises from the confluence of the two vertebral arteries.
is_a: HP:0030321 ! Abnormal vertebral artery morphology
property_value: dc:date "2017-10-13T12:54:00Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020041
name: Double elevator palsy
def: "A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia." [https://orcid.org/0000-0003-0986-4123, PMID:23479532]
is_a: HP:0025068 ! Incomitant strabismus
property_value: dc:date "2017-12-20T17:09:14Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020042
name: Double depressor palsy
def: "An ocular movement abnormality characterized by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye." [https://orcid.org/0000-0003-0986-4123]
is_a: HP:0025068 ! Incomitant strabismus
property_value: dc:date "2017-12-20T17:12:54Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020043
name: Vertical incomitant strabismus
def: "A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards." [https://orcid.org/0000-0003-0986-4123]
is_a: HP:0025068 ! Incomitant strabismus
property_value: dc:date "2017-12-20T17:14:25Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020044
name: Horizontal incomitant strabismus
comment: A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts horizontally.
is_a: HP:0025068 ! Incomitant strabismus
property_value: dc:date "2017-12-20T17:14:39Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020045
name: Esodeviation
def: "A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally." [https://orcid.org/0000-0003-0986-4123]
synonym: "Convergent squint" EXACT []
synonym: "Convergent strabismus" EXACT []
is_a: HP:0000486 ! Strabismus
property_value: dc:date "2017-12-20T17:20:06Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020046
name: Accommodative esotropia
def: "A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex." [https://orcid.org/0000-0003-0986-4123]
comment: Accommodative esotropia refers to strabismus (cross of the eyes) that occurs with focusing efforts of the eyes.
is_a: HP:0000565 ! Esotropia
property_value: dc:date "2017-12-20T17:25:43Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020047
name: Abnormal myeloid cell morphology
def: "Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage." []
is_a: HP:0005561 ! Abnormal bone marrow cell morphology
property_value: dc:date "2017-12-22T14:32:10Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020048
name: Reduced bone-marrow pro-B cell count
def: "A reduction in the numbers of pro-B cells (defined by coexpression of CD34 and CD19). Earlier B-cell precursors are defined by expressing surface CD34 and cytoplasmic TdT in the absence of CD19." []
is_a: HP:0005561 ! Abnormal bone marrow cell morphology
property_value: dc:date "2017-12-22T14:57:04Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020049
name: Exodeviation
def: "A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally." [https://orcid.org/0000-0003-0986-4123]
synonym: "Divergent strabismus" EXACT []
is_a: HP:0000486 ! Strabismus
property_value: dc:date "2017-12-22T15:01:01Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020050
name: Anti-granulocyte-macrophage colony stimulating factor antibody positivity
def: "The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor." [PMID:23509356]
comment: Anti-granulocyte macrophage-colony stimulating factor (GM-CSF) autoantibodies have been shown to cause acquired pulmonary alveolar proteinosis (PAP)(1, 2), a chronic lung disease characterized by abnormalities of surfactant metabolism.
synonym: "Anti-GM-CSF antibody positivity" EXACT abbreviation []
is_a: HP:0030057 ! Autoimmune antibody positivity
property_value: dc:date "2017-12-22T15:05:06Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020054
name: Abnormal erythrocyte physiology
def: "Any functional abnormality of erythrocytes (red-blood cells)." []
is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues
property_value: dc:date "2018-09-28T23:39:07Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020058
name: Abnormal red blood cell count
def: "Any deviation from the normal number of red blood cells per volume in the circulation." []
synonym: "Abnormal RBC count" EXACT abbreviation []
is_a: HP:0001877 ! Abnormal erythrocyte morphology
property_value: dc:date "2018-09-28T23:44:47Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020059
name: Increased red blood cell count
def: "An abnormal elevation above the normal number of red blood cells per volume in the circulation." []
synonym: "Increased RBC count" EXACT abbreviation []
is_a: HP:0020058 ! Abnormal red blood cell count
property_value: dc:date "2018-09-28T23:45:36Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020060
name: Decreased red blood cell count
def: "An abnormal reduction below the normal number of red blood cells per volume in the circulation." []
synonym: "Decreased RBC count" EXACT abbreviation []
is_a: HP:0020058 ! Abnormal red blood cell count
property_value: dc:date "2018-09-28T23:46:01Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020061
name: Abnormal hemoglobin concentration
def: "Any deviation from the normal concentration of hemoglobin in the blood." []
synonym: "Abnormal haemoglobin concentration" EXACT uk_spelling []
synonym: "Abnormal Hb concentration" EXACT abbreviation []
is_a: HP:0001877 ! Abnormal erythrocyte morphology
property_value: dc:date "2018-09-28T23:52:35Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020062
name: Decreased hemoglobin concentration
def: "An abnormal reduction below normal hemoglobin concentration in the circulation." []
synonym: "Decreased haemoglobin concentration" EXACT uk_spelling []
synonym: "Decreased Hb concentration" EXACT abbreviation []
is_a: HP:0020061 ! Abnormal hemoglobin concentration
property_value: dc:date "2018-09-28T23:53:11Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020063
name: obsolete Increased hemoglobin concentration
property_value: dc:date "2018-09-28T23:53:24Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
is_obsolete: true
replaced_by: HP:0001900

[Term]
id: HP:0020064
name: Abnormal total eosinophil count
def: "Abnormal increase or decrease of absolute number of eosinophils in the blood, per microlitre, compared to a reference range for a given sex and age-group." []
is_a: HP:0001879 ! Abnormal eosinophil morphology
is_a: HP:0032309 ! Abnormal granulocyte count
property_value: dc:date "2018-10-17T13:48:52Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020071
name: Viremia
def: "The presence of virus in the blood." []
is_a: HP:0031863 ! Bloodstream infectious agent
property_value: dc:date "2019-01-21T22:33:34Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020072
name: Persistent EBV viremia
def: "Persistent presence of Epstein-Barr virus in the blood." []
comment: Primary EBV infection is often asymptomatic in the immunocompetent host. In immunodeficient patients, however, primary EBV infection or secondary reactivation may result in persistent symptomatic EBV viremia, a clinical condition with a prolonged (over 6 months) and distinct symptomatic phase with fever, lymphadenophathy and several other possible features such as hepatitis and pneumonia. Persistent symptomatic EBV viremia can be associated with lymphoma, lymphoproliferative disease, hemophagocyticlymphohistiocytosis (HLH) and aplastic anemia, but most typically goes into spontaneous remission.
is_a: HP:0032248 ! Persistent viremia
property_value: dc:date "2019-01-21T22:36:17Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020073
name: Hypopigmented macule
def: "A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation." [PMID:24023426]
comment: A reduction in skin pigmentation can be the result of factors such as decreased melanin content or anomalous melanin distribution. In diagnosing pigmentary disorders, Wood's light examination plays an important role, distinguishing hypo- and depigmentation. While a decreased pigment production is reported as hypopigmentation, depigmentation has been defined as loss of pigment. In a similar way, partial lack of melanin is known as hypomelanosis while amelanosis is the total absence of melanin.
is_a: HP:0012733 ! Macule
property_value: dc:date "2019-01-25T13:41:52Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020074
name: Crystalluria
def: "The presence of crystals in the urine." [PMID:26509782]
comment: Crystalluria is a marker of urine supersaturation with substances deriving from metabolic disorders, inherited diseases or drugs. The investigation of crystalluria must be done according to a protocol which includes the delivery to the laboratory of a proper urine sample, the use of a microscope equipped with polarized light, the accurate knowledge of urine pH, and a comprehensive examination of the crystals, which is based on their identification, quantification and size measurement. For unusual crystals, infrared spectroscopy may also be needed. The main urinary crystalline categories include: calcium oxalates, calcium phosphates, uric acids and urates, struvite, aminoacids (cystine), purines (2,8-dihydroxyadenine and xanthine) and drugs (e.g. sulfamethoxazole, amoxycillin, ceftriaxone, atazanavir).
is_a: HP:0003110 ! Abnormality of urine homeostasis
property_value: dc:date "2019-02-25T13:07:52Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020075
name: Leucine crystalluria
def: "The presence of leucine crystals in the urine." [PMID:8671802]
comment: Leucine crystals are oily-looking spheres with concentric striations, which form pseudo-Maltese crosses under polarized light. Leucine, like tyrosine, which appears as thin needles often aggregated inbundles or rosettes, is typical of patients with hepatic failure.
is_a: HP:0020074 ! Crystalluria
property_value: dc:date "2019-02-25T13:13:14Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020076
name: Wrist ganglion
def: "A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule." [PMID:17488856, PMID:19468907]
comment: Thirteen to twenty percent of ganglia are found on the volar aspect of the wrist, arising via a pedicle from the radio scaphoid/scapholunate interval, scaphotrapezial joint, or the metacarpotrapezial joint, in that order of frequency.
synonym: "Ganglion cyst of the wrist" EXACT []
is_a: HP:0025798 ! Abnormal wrist morphology
property_value: dc:date "2019-02-25T13:18:34Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020077
name: Carnitinuria
def: "An elevated level of carnitine in the urine." [https://orcid.org/0000-0002-8169-9049, PMID:11196742]
synonym: "Carnitine high in urine" EXACT []
is_a: HP:0031980 ! Abnormal urine carboxylic acid level
property_value: dc:date "2019-02-25T13:29:26Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020078
name: Alaninuria
def: "An increased level of alanine in the urine." [https://orcid.org/0000-0002-8169-9049]
synonym: "Increased urinary alanine" EXACT []
is_a: HP:0033100 ! Increased proteinogenic amino acid level in urine
property_value: dc:date "2019-02-25T13:31:43Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020079
name: Beta-alaninuria
alt_id: HP:6000276
def: "The amount of beta-alanine in the urine, when normalized for urine concentration, is above the upper limit of normal." [PMID:7936305]
comment: Beta-alanine is a component of carnosine, anserine and pantothenic acid. It is comprised of propionic acid with the amino group in the 3-position.
synonym: "Beta-alanine high in urine" EXACT []
synonym: "Elevated urinary beta-alanine level" EXACT []
synonym: "Hyper-beta-alaninuria" EXACT []
is_a: HP:0033098 ! Increased urinary non-proteinogenic amino acid level
property_value: dc:date "2019-02-25T13:34:18Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020080
name: Erythrocyte inclusion bodies
def: "Nuclear or cytoplasmic aggregates of substances in red blood cells." []
is_a: HP:0001877 ! Abnormal erythrocyte morphology
property_value: dc:date "2019-02-25T13:41:04Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020081
name: Pappenheimer bodies
def: "A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain)." [PMID:15054821, PMID:21250106]
is_a: HP:0020080 ! Erythrocyte inclusion bodies
property_value: dc:date "2019-02-25T13:56:37Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020082
name: Heinz bodies
def: "A type of erythrocyte inclusion composed of denatured hemoglobin." [PMID:21250106, PMID:24713708]
is_a: HP:0020080 ! Erythrocyte inclusion bodies
property_value: dc:date "2019-02-25T14:00:35Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020083
name: Furuncle
def: "An infection of a hair follicle that extends subcutaneously, forming an abscess." []
synonym: "Boil" EXACT layperson []
is_a: HP:0025084 ! Folliculitis
property_value: dc:date "2019-04-08T16:59:51Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020084
name: Carbuncle
def: "A pustular lesion of the skin emerging from group of infected hair follicles, characterized by a deep location and dissecting through tissue planes. A carbuncle is larger and deeper than a furuncle." [PMID:32119346]
is_a: HP:0025084 ! Folliculitis
property_value: dc:date "2019-04-08T17:02:42Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020085
name: Infection following live vaccination
def: "An infection resulting from live attenuated vaccines (LAV), that is, a vaccine prepared from living viruses or bacteria that have been weakened under laboratory conditions. LAV vaccines will replicate in a vaccinated individual and produce an immune response but usually cause mild or no disease. are derived from disease-causing pathogens." []
is_a: HP:0032101 ! Unusual infection
property_value: dc:date "2019-04-08T17:21:47Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020086
name: BCGitis
def: "Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination." [PMID:24722620]
comment: The Bacillus Calmette-Guerin (BCG) vaccine has existed for 80 years and is one of the most widely used of all current vaccines. The BCG vaccine has a protective effect against meningitis and disseminated tuberculosis in children. or most children, BCG vaccination is harmless. However, infection, even disseminated infection, caused by BCG has occasionally been reported. The incidence of BCG infection is approximately one in ten thousand to a million. The BCG-induced disease phenotypes were designated as local, regional, distant, or disseminated pattern. The former two patterns were conventionally termed as BCGitis and the latter two as BCGosis.
is_a: HP:0020085 ! Infection following live vaccination
property_value: dc:date "2019-04-08T17:25:28Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020087
name: BCGosis
alt_id: HP:0031698
def: "Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis." [PMID:21412596, PMID:24722620]
comment: The Bacillus Calmette-Guerin (BCG) vaccine has existed for 80 years and is one of the most widely used of all current vaccines. The BCG vaccine has a protective effect against meningitis and disseminated tuberculosis in children. or most children, BCG vaccination is harmless. However, infection, even disseminated infection, caused by BCG has occasionally been reported. The incidence of BCG infection is approximately one in ten thousand to a million. The BCG-induced disease phenotypes were designated as local, regional, distant, or disseminated pattern. The former two patterns were conventionally termed as BCGitis and the latter two as BCGosis.
synonym: "BCGiosis" EXACT []
synonym: "Disseminated Bacillus Calmette-Guerin infection" EXACT []
is_a: HP:0020085 ! Infection following live vaccination
property_value: dc:date "2019-04-08T17:27:13Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020088
name: Post-vaccination measles
def: "Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases." [PMID:29152266]
synonym: "Vaccine associated measles" EXACT []
is_a: HP:0020085 ! Infection following live vaccination
property_value: dc:date "2019-04-08T17:31:45Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020089
name: Post-vaccination rubella
def: "Infection with the rubella virus of the live-attenuated vaccine." []
is_a: HP:0020085 ! Infection following live vaccination
property_value: dc:date "2019-04-08T17:36:47Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020090
name: Post-vaccination polio
def: "Infection with live attenuated polio vaccine following vaccination. This is an extremely rare event that may indicate immunocompromise." [PMID:25285130]
is_a: HP:0020085 ! Infection following live vaccination
property_value: dc:date "2019-04-08T17:38:52Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020091
name: Post-vaccination rotavirus infection
def: "Infection with live attenuated rotavirus vaccine following vaccination." [PMID:21477676]
is_a: HP:0020085 ! Infection following live vaccination
property_value: dc:date "2019-04-08T17:42:33Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020093
name: Recurrent deep organ abscess formation
def: "Repeated episodes of the formation of abscesses in organs. An abscess is a circumscribed area of pus or necrotic debris in the parenchyma or an organ." []
is_a: HP:0032169 ! Severe infection
property_value: dc:date "2019-04-08T17:44:58Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020095
name: Prolonged need of intravenous antibiotic therapy
def: "Clinical assessment of a requirement to treat with intravenous antibiotics over an unusually prolonged period of time." []
is_a: HP:0032169 ! Severe infection
property_value: dc:date "2019-04-08T17:48:52Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020096
name: Recurrent streptococcal infections
def: "Increased susceptibility to streptococcal infections, as manifested by recurrent episodes of streptococcal infections." []
is_a: HP:0002718 ! Recurrent bacterial infections
property_value: dc:date "2019-04-08T17:59:21Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020097
name: Infection due to encapsulated bacteria
def: "An infection by an encapsulated bacterial agent. Isolates which cause invasive disease are usually surrounded by a polysaccharide capsule, which is a major virulence factor and the key antigen in protective protein-polysaccharide conjugate vaccines." [PMID:30515161]
comment: Encapsulated bacteria have been responsible for the majority of bacteremia and meningitis in children for many decades. In children aged over 3 months, Streptococcus pneumoniae (pneumococcus), Neisseria meningitidis (meningococcus), and Haemophilus influenzae have been the predominant pathogens, with H. influenzae being a less significant problem since the introduction of vaccines against type b organisms. Disease is most common in young children less than 5 years of age and older adults aged over 65 years. In neonates and young infants, Group B Streptococcus (GBS) is the major cause of bacteremia and meningitis. These organisms have the shared characteristic of being surrounded by a polysaccharide capsule, which is a key virulence factor because it helps the bacteria evade complement deposition and subsequent phagocytosis and killing. These polysaccharides have also been the basis for successful vaccines against all except GBS, because immune responses against the polysaccharide capsule are the primary mechanism of protection for the human host. Each species can be encapsulated by polysaccharides of different biochemical compositions, which has been used for categorization into capsular groups or serotypes.
is_a: HP:0032260 ! Opportunistic bacterial infection
property_value: dc:date "2019-04-08T18:54:35Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020098
name: obsolete Herpes encephalitis
property_value: dc:date "2019-04-08T18:58:22Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
is_obsolete: true
replaced_by: HP:0012302

[Term]
id: HP:0020099
name: Severe norovirus infection
def: "An unusually severe course of infection with Human norovirus, previously known as Norwalk virus. Norovirus, an RNA virus of the family Caliciviridae, is a human enteric pathogen. Norovirus infection-associated illness may also be more prolonged and severe in immunocompromised individuals and may be associated with remarkably persistent viral excretion in some of these individuals." [PMID:25567225]
is_a: HP:0032169 ! Severe infection
property_value: dc:date "2019-04-08T19:02:54Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020100
name: Unusual fungal infection
def: "An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent." []
is_a: HP:0032101 ! Unusual infection
property_value: dc:date "2019-04-08T19:05:28Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020101
name: Invasive fungal infection
def: "Fungal infection characterized by invasion of host tissues." [PMID:24718393]
comment: Invasive fungal infections are a significant health problem in immunocompromised patients. Major risk factors for IFI include neutropenia less than 500 neutrophils/ml for more than 10 days, hematological malignancies, bone marrow transplantation, prolonged (over 4 wk) treatment with corticosteroids; prolonged (over 7 days) stays in intensive care, chemotherapy, HIV infection, invasive medical procedures, and the newer immune suppressive agents.
is_a: HP:0020100 ! Unusual fungal infection
property_value: dc:date "2019-04-08T19:11:15Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020102
name: Pneumocystis jirovecii pneumonia
alt_id: HP:0034286
def: "An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing." [PMID:26281787]
comment: Pneumocystis pneumonia (PCP) is caused by Pneumocystis jirovecii, a ubiquitous fungus. The taxonomy of the organism has been changed; Pneumocystis carinii now refers only to the Pneumocystis that infects rats, and P. jirovecii refers to the distinct species that infects humans. However, the abbreviation PCP is still the preferred acronym to designate the clinical syndrome of Pneumocystis pneumonia, although PJP is commonly used.
synonym: "Pneumocystis carinii pneumonia" EXACT []
is_a: HP:0032255 ! Opportunistic fungal infection
property_value: dc:date "2019-04-08T19:15:19Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020103
name: Invasive pulmonary aspergillosis
def: "Infection of the lungs with aspergillus. In the respiratory mucosa, the spores may germinate into hyphae, which in turn can invade the mucosa leading to invasive pulmonary aspergillosis." [PMID:25656673]
comment: Invasive pulmonary aspergillosis usually occurs in severely immunocompromised patients. Classic at-risk patients are those with prolonged neutropenia, either due to chemotherapy or immunosuppressive therapy, post hematopoietic stem cell transplant (SCT), or solid organ transplant.
is_a: HP:0020101 ! Invasive fungal infection
property_value: dc:date "2019-04-08T19:17:44Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020104
name: Unusual protozoan infection
def: "An unusual protozoan infection that is regarded as a sign of a pathological susceptibility to infection by a protozoal agent." []
is_a: HP:0032101 ! Unusual infection
property_value: dc:date "2019-04-08T19:21:25Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020105
name: Severe toxoplasmosis
def: "Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs)." [PMID:25762774]
is_a: HP:0020104 ! Unusual protozoan infection
property_value: dc:date "2019-04-08T19:22:59Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020106
name: Severe giardiasis
def: "An unusually severe infection due to Giardia lamblia, also called Giardia duodenalis or Giardia intestinalis, which is a protozoan parasite of the small intestine that causes extensive morbidity worldwide." [PMID:11148005, PMID:17042927]
comment: Several reports of giardiasis in immunocompromised patients exist.
is_a: HP:0020104 ! Unusual protozoan infection
property_value: dc:date "2019-04-08T19:25:29Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020107
name: Unusual helminthic infection
def: "An unusual helminthic infection that is regarded as a sign of a pathological susceptibility to infection by a worm (helminth)." [PMID:18382743]
is_a: HP:0032101 ! Unusual infection
property_value: dc:date "2019-04-08T19:28:54Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020108
name: Unusual parasitic infection
def: "An unusual parasitic infection that is regarded as a sign of a pathological susceptibility to infection by a parasite." [PMID:16148530]
is_a: HP:0032101 ! Unusual infection
property_value: dc:date "2019-04-08T19:30:24Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020110
name: Bone fracture
def: "A partial or complete breakage of the continuity of a bone." []
is_a: HP:0011842 ! Abnormal skeletal morphology
property_value: dc:date "2019-04-08T20:45:29Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020111
name: Abnormal regulatory T cell proportion
def: "Abnormal increase or decrease of the regulatory (Treg) CD4+ T cell subpopulation, commonly characterized by the CD127lowCD25hi phenotype, with the optional additional positivity for FoxP3, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group." [PMID:19751267]
comment: Identification of Treg cells remains problematic, because accumulating evidence suggests that all the presently-used Treg markers (CD25, CTLA-4, GITR, LAG-3, CD127 and Foxp3) represent general T-cell activation markers, rather than being truly Treg-specific.
synonym: "Abnormal CD4+CD25+ regulatory T cell proportion" EXACT []
synonym: "Abnormal CD4+CD25+ Treg cell proportion" EXACT []
synonym: "Abnormal Treg proportion" EXACT []
is_a: HP:0031392 ! Abnormal CD4+ T cell subset proportion
property_value: dc:date "2019-04-08T20:48:36Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020112
name: Increased proportion of regulatory T cells
def: "Abnormal increase of the regulatory (Treg) CD4+ T cell subpopulation, commonly characterized by the CD127lowCD25hi phenotype, with the optional additional positivity for FoxP3, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group." []
synonym: "Elevated proportion of CD4+CD25+ regulatory T cells" EXACT []
synonym: "Increased proportion of CD4+CD25+ regulatory T cells" EXACT []
synonym: "Increased proportion of CD4+CD25+ Treg cells" EXACT []
is_a: HP:0020111 ! Abnormal regulatory T cell proportion
property_value: dc:date "2019-04-08T20:50:53Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020113
name: Decreased proportion of regulatory T cells
def: "Abnormal decrease of the regulatory (Treg) CD4+ T cell subpopulation, commonly characterized by the CD127lowCD25hi phenotype, with the optional additional positivity for FoxP3, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group." []
synonym: "Decreased proportion of CD4+CD25+ regulatory T cells" EXACT []
synonym: "Decreased proportion of CD4+CD25+ Treg cells" EXACT []
synonym: "Reduced proportion of CD4+CD25+ regulatory T cells" EXACT []
is_a: HP:0020111 ! Abnormal regulatory T cell proportion
property_value: dc:date "2019-04-08T20:51:32Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020114
name: Persistent human papillomavirus infection
def: "Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease." [PMID:24643184, PMID:26239127]
synonym: "Chronic HPV infection" EXACT []
synonym: "Persistent HPV infection" EXACT []
is_a: HP:0032169 ! Severe infection
property_value: dc:date "2019-04-08T20:54:37Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0020117
name: Hypoplastic dermoepidermal hemidesmosomes
def: "Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin." [PMID:11851880, PMID:25487405]
comment: With this feature, the intracellular attachment plates may be thinner than usualler or separated into small, triangular segments. The thickness of the hemidesmosomes may be less than usual.
is_a: HP:0032449 ! Abnormal dermoepidermal hemidesmosome morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-02T14:49:12Z

[Term]
id: HP:0020118
name: Radial artery aplasia
def: "Congenital absence of the radial artery." [PMID:24650137]
is_a: HP:0031640 ! Abnormal radial artery morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-02T16:30:41Z

[Term]
id: HP:0020119
name: Abnormal retinal nerve fiber layer morphology
def: "A structural abnormality of the retinal nerve fiber layer" []
comment: The retinal nerve fiber layer consists of unmyelinated ganglion cell axons coursing on the vitreal surface of the retina to the optic disc. These axons become myelinated after entering the optic nerve.
synonym: "Abnormal retinal nerve fibre layer morphology" EXACT uk_spelling []
is_a: HP:0000479 ! Abnormal retinal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-02T16:34:14Z

[Term]
id: HP:0020120
name: Retinal nerve fiber edema
def: "Swelling (edema) of the retinal nerve fibers." []
synonym: "Retinal nerve fibre oedema" EXACT uk_spelling []
is_a: HP:0020119 ! Abnormal retinal nerve fiber layer morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-02T16:39:25Z

[Term]
id: HP:0020121
name: Conception by assisted reproductive technology
def: "A history of conception by an assisted reproductive technology such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and cryopreservation." [PMID:28844405]
comment: Assisted reproductive technology is used primarily for infertility treatments to achieve pregnancy.
is_a: HP:0032443 ! Past medical history
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-02T16:46:09Z

[Term]
id: HP:0020122
name: Bite cells
def: "Red blood cells that appear to have parts of them bitten away." [ISBN:978-0-07174889-6]
comment: This feature can be observed with acute hemolytic anemia (AHA) related to glucose-6-phosphate dehydrogenase (G6PD) deficiency. In this disorder, AHA can be triggered by ingestion of fave beans, infections, and certain medications. The blood film can show poikilocytosis with bite cells.
synonym: "Blister cells" EXACT []
synonym: "Degmacytes" EXACT []
is_a: HP:0004447 ! Poikilocytosis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-02T20:24:07Z

[Term]
id: HP:0020123
name: Tympanosclerosis
def: "A stiffening of the tympanic membrane due to calcification, typically presents as white plaque-like lesions, involving discrete regions of the tympanic membrane and/or middle ear." [PMID:27656306]
comment: Plaques related to tympanosclerosis do not form spherical lesions and are typically within the drum substance itself which is normally easily discerned when using the binocular view of a microscope rather than the monocular, two-dimensional view of a hand-held otoscope. Such plaques can alter compliance of the tympanic membrane and can lead to sclerotic fixation of the ossicles, both of which can result in a mild conductive hearing loss. Histologically, lesions vary slightly according to their stage of development showing differing amounts of increased fibroblasts, abnormal fibers, areas of hyalinization, and areas of calcification into an osseous-like matrix. Most patients require no treatment.
synonym: "Tympanic calcification" EXACT []
is_a: HP:0008609 ! Abnormal middle ear morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-02T20:36:06Z

[Term]
id: HP:0020125
name: Spontaneous conjunctival filtering bleb
def: "Avascular cystic elevations of the superior conjunctiva not related to ocular surgery or trauma." [PMID:24768550, PMID:8749053]
synonym: "Conjunctival avascular cysts (filtering blebs)" EXACT plural_form []
synonym: "Spontaneous filtering bleb" EXACT []
is_a: HP:0000502 ! Abnormal conjunctiva morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-02T22:49:55Z

[Term]
id: HP:0020126
name: Prostate mass
def: "A lump detected in the prostate. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction." []
comment: The word mass is often used interchangeably with tumor, which derives from the Latin word tumor that originally meant any form of swelling. A small mass may be asymptomatic. Larger masses may cause pain if they press on a nerve or organ, or may lead to other manifestations depending on their location. In general, the finding of a mass will lead to a workup to determine the nature of the mass.
is_a: HP:0008775 ! Abnormal prostate morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-03T17:10:08Z

[Term]
id: HP:0020127
name: Periarticular soft-tissue mass
def: "A lump detected in the region that surrounds a joint. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction." []
comment: The word mass is often used interchangeably with tumor, which derives from the Latin word tumor that originally meant any form of swelling. A small mass may be asymptomatic. Larger masses may cause pain if they press on a nerve or organ, or may lead to other manifestations depending on their location. In general, the finding of a mass will lead to a workup to determine the nature of the mass.
is_a: HP:0001367 ! Abnormal joint morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-03T17:35:14Z

[Term]
id: HP:0020128
name: Aplasia of the olfactory tract
def: "Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell." [https://orcid.org/0000-0001-5208-3432, PMID:27863011]
is_a: HP:0100547 ! Abnormal forebrain morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-05T15:49:35Z

[Term]
id: HP:0020129
name: Abnormal urine protein level
def: "Any deviation of the concentration of one or more proteins in the urine." []
is_a: HP:0033354 ! Abnormal urine metabolite level
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-05T16:29:22Z

[Term]
id: HP:0020130
name: Increased urinary neutrophil gelatinase-associated lipocalin
def: "An increased concentration of neutrophil gelatinase-associated lipocalin in the urine (there is no generally accepted threshold, but some studies choose a threshold of above 150 nanogram per milliliter)." [PMID:18725016]
comment: An increased urinary NGAL concentration may indicate tubular injury.
synonym: "Increased urinary NGAL" EXACT abbreviation []
is_a: HP:0020129 ! Abnormal urine protein level
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-05T16:30:20Z

[Term]
id: HP:0020131
name: Abnormal tubular basement membrane morphology
def: "Abnormal structure of the basement membrane of the renal tubulus." []
is_a: HP:0000091 ! Abnormal renal tubule morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-05T16:55:32Z

[Term]
id: HP:0020132
name: Thickening of the tubular basement membrane
def: "Increase in thickness of the basement membrane of the tubulus of the kidney." [PMID:20142905]
is_a: HP:0020131 ! Abnormal tubular basement membrane morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-05T16:56:26Z

[Term]
id: HP:0020133
name: Podocyte hypertrophy
def: "Increased visceral epithelial cell size, with or without cytoplasmic protein droplets." [PMID:15610239, PMID:32866505]
comment: Podocytes, also called visceral glomerular epithelial cells, are terminally differentiated cells that line the outer surface of the glomerular basement membrane. Podocytes prevent protein leakage into the urinary space, and also provide important tensile strength to the glomerular capillaries, by opposing the hydrostatic pressure from within. In contrast to glomerular endothelial and mesangial cells, podocytes do not typically proliferate. Studies have shown that following podocyte loss, the inability of podocytes to proliferate contributes to the development of glomerulosclerosis. Consequently, in order to cover the denuded glomerular basement membrane, podocytes increase in size due to hypertrophy. Although this is initially compensatory, podocyte hypertrophy is likely maladaptive, and contributes to glomerulosclerosis.
synonym: "Glomerular visceral epithelial cell hypertrophy" EXACT []
synonym: "Hypertrophy of visceral epithelial cells" EXACT []
is_a: HP:0031265 ! Abnormal glomerular visceral epithelial cell morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-05T17:07:56Z

[Term]
id: HP:0020134
name: Increased urine neutrophil count
def: "Abnormally increased count of neutrophils in urine." [https://orcid.org/0000-0001-7941-2961]
is_a: HP:0012085 ! Pyuria
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-05T17:23:53Z

[Term]
id: HP:0020135
name: Myofibromatosis
def: "A mesenchymal neoplasm characterized by solitary or multiple nodules involving the skin, striated muscles, bones and, sometimes, viscera. It usually appears as a subcutaneous nodule, but can also appear as an ulcer, pedunculated lesion, or similar to a hemangioma. Histology shows well-circumscribed tapered cell lobes, resembling smooth muscle cells. At its center, perivascular round cells (hemangiopericitoides) are usually observed, giving a biphasic appearance." [NCIT:C3742, PMID:29364448]
is_a: HP:0031459 ! Soft tissue neoplasm
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-05T17:28:59Z

[Term]
id: HP:0020136
name: Anticardiolipin IgG antibody positivity
def: "The presence of circulating IgG autoantibodies to cardiolipin." [PMID:30256771]
is_a: HP:0003613 ! Antiphospholipid antibody positivity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-05T17:39:35Z

[Term]
id: HP:0020137
name: Anticardiolipin IgM antibody positivity
def: "The presence of circulating IgM autoantibodies to cardiolipin." [PMID:30256771]
is_a: HP:0003613 ! Antiphospholipid antibody positivity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-05T17:41:28Z

[Term]
id: HP:0020138
name: History of recent animal bite
def: "Medical history of a recent bite injury due to an animal." [PMID:26179017]
comment: The spectrum of injury is broad and infectious complications, generally due to unusual pathogens, are common.
is_a: HP:4000144 ! Recent past medical history
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-05T17:44:09Z

[Term]
id: HP:0020139
name: History of recent insect bite
def: "Medical history of a recent bite injury due to an insect." [PMID:24364549]
is_a: HP:4000144 ! Recent past medical history
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-05T17:46:38Z

[Term]
id: HP:0020140
name: History of recent tick bite
def: "Medical history of a recent bite injury due to a tick." [PMID:24364549]
is_a: HP:0020139 ! History of recent insect bite
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-05T17:48:14Z

[Term]
id: HP:0020141
name: Blood pressure substantially higher in legs than arms
def: "An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the legs being much higher than the blood pressure measure in the arms. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm." [PMID:12101189]
comment: This feature may be seen, for instance, in Takayasu arteritis.
synonym: "Blood pressure substantially higher in lower than upper extremities" EXACT []
synonym: "Blood pressure substantially lower in arms than legs" EXACT []
synonym: "Blood pressure substantially lower in upper than lower extremities" EXACT []
is_a: HP:0030972 ! Abnormal systemic blood pressure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-05T17:52:19Z

[Term]
id: HP:0020142
name: Blood pressure substantially higher in arms than legs
def: "An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the arms being much higher than the blood pressure measure in the legs. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm." [PMID:28377475]
comment: This feature can be observed in aortic coarctation.
synonym: "Blood pressure substantially higher in upper than lower extremities" EXACT []
synonym: "Increased arm-leg blood pressure gradient" EXACT []
is_a: HP:0030972 ! Abnormal systemic blood pressure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-05T17:56:44Z

[Term]
id: HP:0020143
name: Tracheal duplication cyst
def: "A cyst in the trachea, whose wall is made up by tissue similar to the bronchial tree, including cartilage and smooth muscle, and is lined by secretory respiratory epithelium composed of cuboid or columnar ciliated epithelium." [PMID:25313910]
comment: Tracheal duplication cyst is a rare congenital malformation presenting in childhood with stridor or dysphagia from a mass effect on the trachea or esophagus. The features of the tracheal duplication cyst are similar to those of bronchogenic duplication cyst and laryngeal duplication cyst, but with histopathological features of the trachea. The trachea is known to originate from the respiratory diverticulum, a ventral outpouching of foregut lumen. The postulated embryological basis of a tracheal duplication cyst may be similar to that of the anomalous bronchi and is a result of abnormal budding of the bronchial tree during the fourth to sixth weeks of embryogenesis.
is_a: HP:0002778 ! Abnormal tracheal morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-05T19:01:46Z

[Term]
id: HP:0020144
name: Calcium phosphate crystalluria
def: "The presence of calcium phosphate crystals in the urine." [PMID:26509782, PMID:3599249, PMID:8671802]
comment: Calcium phosphate crystals are pleiomorphic, often appearing as birefringent stars or needles, occurring in isolation or in clumps. Plates are granular and non-birefringent.
is_a: HP:0020074 ! Crystalluria
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-05T19:05:11Z

[Term]
id: HP:0020145
name: Calcium oxalate crystalluria
def: "The presence of calcium oxalate crystals in the urine." [PMID:26509782, PMID:3599249, PMID:8671802]
comment: There are two types of calcium oxalate crystals, the dihydrate (or Wedellite) and the monohydrate (orWhewellite), which are frequently found together in the same sample. The former have mostly a typical bipyramidal shape, while the latter are more pleiomorphic, although the ovoid shape is the most frequent. Bipyramidal crystals are birefringent only when large or in aggregates, but even then birefringence is usually not intense. The monohydrates, however, are always strongly birefringent. Calcium oxalate may be found in normal subjects, often as a consequence of ingestion of foods like chocolate, beet-root, peanuts, rhubarb, spinach, etc., in stoneformers, in patients with hyperoxaluria, or after ethylene glycol poisoning.
is_a: HP:0020074 ! Crystalluria
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-05T19:06:11Z

[Term]
id: HP:0020146
name: Calcium carbonate crystalluria
def: "The presence of calcium carbonate crystals in the urine." [PMID:26509782, PMID:8671802]
comment: Calcium carbonate crystals usually appear as clumped granules.
is_a: HP:0020074 ! Crystalluria
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-05T19:11:59Z

[Term]
id: HP:0020147
name: 2-Methylbutyryl glycinuria
def: "Increased concentration of 2-methylbutyryl glycine in the urine." [https://orcid.org/0000-0002-8169-9049, PMID:17883863]
comment: This phenotype can be related to a defect in the degradation pathway of L- isoleucine leading to increased urinary excretion of 2-methylbutyryl glycine.
is_a: HP:0033097 ! Increased urine proteinogenic amino acid derivative level
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-05T19:25:20Z

[Term]
id: HP:0020148
name: Increased circulating mead acid level
def: "An abnormally elevated concentration od mead acid in the blood circulation." [PMID:25440954]
comment: Elevated serum Mead acid as a proportion of total fatty acids is an indirect marker of a deficiency of essential fatty acids.
is_a: HP:0003455 ! Elevated circulating long chain fatty acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-05T19:33:18Z

[Term]
id: HP:0020149
name: Elevated circulating succinate
def: "An increase concentration of succinate in the blood circulation." [PMID:29434314]
is_a: HP:0010995 ! Abnormal circulating dicarboxylic acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-05T19:49:33Z

[Term]
id: HP:0020150
name: Elevated urinary uromodulin level
def: "The concentration of uromodulin (also known as Tamm Horsfall protein) in the urine, normalized for urine concentration, is above the upper limit of normal." [PMID:28781372]
comment: Uromodulin (also known as Tamm Horsfall protein) is exclusively produced in the kidney and is the most abundant protein in normal urine. Levels of uromodulin in the urine and in the blood, where it is present in lower amounts, are valuable biomarkers for tubular mass and renal function.
synonym: "Elevated urinary Tamm-Horsfall protein concentration" EXACT []
is_a: HP:0034885 ! Abnormal urinary uromodulin level
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-05T19:52:14Z

[Term]
id: HP:0020151
name: Anti-dsDNA antibody positivity
def: "The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA." [PMID:15804704]
comment: Anti-DNA antibodies can be observed in persons with systemic lupus erythematosus (SLE), being a formal classification criterion.
synonym: "Anti-double-stranded DNA antibody positivity" EXACT []
is_a: HP:0003493 ! Antinuclear antibody positivity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-05T20:03:40Z

[Term]
id: HP:0020152
name: Distal joint hypermobility
def: "Lack of stability of a distal joint (e.g., finger)." []
synonym: "Distal joint laxity" EXACT []
is_a: HP:0430046 ! Small joint hypermobilty
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-05T20:21:18Z

[Term]
id: HP:0020153
name: Positive blood 1,3 beta glucan test
def: "Beta-1,3-glucan is a major constituent of all of the characterized fungal cell walls, making up between 30-80 percent of the mass of the wall. It is a biomarker of fungal infections such as invasive pulmonary aspergillosis." [PMID:27475024]
is_a: HP:0410172 ! Blood xenobiotic
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-05T21:01:45Z

[Term]
id: HP:0020154
name: Nevus comedonicus
def: "A type of epidermal nevus characterized by closely arranged, dilated follicular openings with keratinous plugs resembling classical comedones." [PMID:23888253]
comment: Nevus comedonicus has a predilection for the face and neck area. Nevus comedonicus presents with grouped, dilated, plugged follicular ostia in a honeycomb pattern. The plugged ostia contain lamellated keratinaceous material. Their appearance resembles black dots but the material cannot be easily removed mechanically in contrast to acne comedones. Nevus comedonicus lesions might present with various patterns of distribution: unilateral, bilateral, linear, interrupted, segmental, or blaschkoid.
is_a: HP:0010816 ! Epidermal nevus
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-05T21:03:08Z

[Term]
id: HP:0020155
name: Abnormal oocyte morphology
def: "An abnormal structure of the female germ cell (egg cell)." []
is_a: HP:0025461 ! Abnormal cell morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-06T18:45:54Z

[Term]
id: HP:0020156
name: Abnormal zona pellucida morphology
def: "Abnormal structure of the oocyte extracellular matrix region known as the zona pellucida." [PMID:26329136]
comment: During mammalian fertilization, sperm need to reach the cumulus-oocyte complex, get through the hyaluronic matrix of the cumulus and penetrate the zona pellucida (ZP) in order to fuse with the egg.
is_a: HP:0020155 ! Abnormal oocyte morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-06T18:49:23Z

[Term]
id: HP:0020157
name: Thin zona pellucida
def: "Reduced thickness of the zona pellucida." [PMID:7657763]
is_a: HP:0020156 ! Abnormal zona pellucida morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-06T18:52:13Z

[Term]
id: HP:0020158
name: Increased circulating adrenic acid concentration
def: "An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation." [https://orcid.org/0000-0002-8169-9049, PMID:28456640]
synonym: "Increased circulating docosatetraenoate level" EXACT []
is_a: HP:0004359 ! Abnormal circulating fatty-acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-06T19:34:06Z

[Term]
id: HP:0020159
name: Reduced response to gonadotropin-releasing hormone stimulation test
def: "Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels." [PMID:22723321]
synonym: "Reduce response to GnRH stimulation test" EXACT abbreviation []
is_a: HP:0031279 ! Abnormal response to gonadotropin-releasing hormone stimulation test
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-06T19:39:36Z

[Term]
id: HP:0020160
name: GM1-ganglioside accumulation
def: "Cellular accumulation of GM1 gangliosides." [PMID:9063740]
comment: At the neuropathological level, severe infantile GM1-gangliosidosis patients exhibit distended neurons that contain typical lamellar inclusions referred to as membranous cytoplasmic bodies which are also found in other lipidoses. Although neurons are the primary target for storage, astrocytes may also appear abnormally vacuolated. Neuronal pathology in late onset forms is delayed and tends to be more severe in deeper structures of the brain than in the cortex. Inclusions in the liver are of fibrillar nature and are different from the lamellar bodies in neurons. Abnormal accumulation of GM1-ganglioside and, to a much lesser extent, its asialo-derivative GA1, in the brain is the most prominent biochemical feature.
is_a: HP:0004345 ! Ganglioside accumulation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-06T19:48:26Z

[Term]
id: HP:0020161
name: Branch retinal artery occlusion
def: "Blockage of a branch of the retinal artery. This can cause loss of a section of visual field." [https://orcid.org/0000-0003-0986-4123, PMID:19376586]
is_a: HP:0025326 ! Retinal arterial occlusion
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-06T20:57:42Z

[Term]
id: HP:0020163
name: Cilioretinal artery occlusion
def: "Blockage of the cilioretinal artery. The central retinal artery supplies the inner retina and the surface of the optic nerve. In some individuals, the cilioretinal artery, a branch of the ciliary circulation, may supply a portion of the retina including the macula. In cilioretinal artery occlusion, vision loss results from cell death in the inner retinal layers (mainly ganglion cells) despite relative sparing of the outer layers." [https://orcid.org/0000-0003-0986-4123, PMID:28058169]
is_a: HP:0025326 ! Retinal arterial occlusion
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-06T21:01:57Z

[Term]
id: HP:0020164
name: Ophthalmic artery occlusion
def: "A partial or complete obstruction of the ophthalmic artery (branch of the internal carotid artery) that may lead to severe ischemia of the affected globe and associated ocular tissues. It can present with a similar picture to central retinal artery occlusion; however, profound choroidal ischaemia also occurs." [https://orcid.org/0000-0003-0986-4123, PMID:30148234]
is_a: HP:0025326 ! Retinal arterial occlusion
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-06T21:05:14Z

[Term]
id: HP:0020165
name: Branch retinal vein occlusion
def: "Blockage of a branch of the retinal vein. It may present with sudden-onset of painless vision loss or visual field defect correlating to the area of perfusion of the obstructed vessels." [https://orcid.org/0000-0003-0986-4123, PMID:30570991]
is_a: HP:0012636 ! Retinal vein occlusion
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-06T21:08:14Z

[Term]
id: HP:0020166
name: Central retinal vein occlusion
def: "Central retinal vein occlusion is an occlusion of the main retinal vein posterior to the lamina cribrosa of the optic nerve and is typically caused by thrombosis." [PMID:30252241]
is_a: HP:0012636 ! Retinal vein occlusion
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-06T21:10:20Z

[Term]
id: HP:0020167
name: Hemiretinal vein occlusion
def: "A variant of central retinal vein occlusions that involves the superior or inferior half of the retina." [https://orcid.org/0000-0003-0986-4123, PMID:22069354]
is_a: HP:0012636 ! Retinal vein occlusion
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-06T21:12:32Z

[Term]
id: HP:0020169
name: Abnormal drug response
def: "An anomalous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy." [https://orcid.org/0000-0002-7440-8864, PMID:16948615]
is_a: HP:0001939 ! Abnormality of metabolism/homeostasis
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-06T21:39:59Z

[Term]
id: HP:0020170
name: Increased blood drug concentration
def: "High plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime." [https://orcid.org/0000-0002-7440-8864, PMID:26075072]
synonym: "Elevated blood drug concentration" EXACT []
synonym: "Elevated plasma drug concentration" EXACT []
synonym: "Elevated serum drug concentrations" EXACT []
synonym: "Increased plasma drug concentration" EXACT []
synonym: "Increased serum drug concentration" EXACT []
is_a: HP:0020169 ! Abnormal drug response
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-06T21:41:53Z

[Term]
id: HP:0020171
name: Decreased blood drug concentration
def: "Low plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime." [https://orcid.org/0000-0002-7440-8864, PMID:26075072]
synonym: "Decreased plasma drug concentration" EXACT []
synonym: "Decreased serum drug concentration" EXACT []
synonym: "Reduced blood drug concentration" EXACT []
synonym: "Reduced plasma drug concentration" EXACT []
synonym: "Reduced serum drug concentrations" EXACT []
is_a: HP:0020169 ! Abnormal drug response
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-06T21:44:04Z

[Term]
id: HP:0020172
name: Adverse drug response
def: "An unpleasant or harmful reaction resulting from treatment with a drug." [https://orcid.org/0000-0002-7440-8864, PMID:11072960]
synonym: "Adverse drug reaction" EXACT []
synonym: "Drug-induced reaction" EXACT []
synonym: "Drug-induced response" EXACT []
synonym: "Toxic drug response" EXACT []
is_a: HP:0020169 ! Abnormal drug response
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-06T21:45:45Z

[Term]
id: HP:0020173
name: Reduced drug efficacy
def: "Decreased response to a drug intervention in comparison to the expected response." [https://orcid.org/0000-0002-7440-8864, PMID:26178435]
synonym: "Decreased drug efficacy" EXACT []
is_a: HP:0020169 ! Abnormal drug response
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-06T21:46:54Z

[Term]
id: HP:0020174
name: Refractory drug response
def: "Absent or significantly reduced efficacy of drug intervention characterized by lack of measurable benefit or deterioration of disease course." [https://orcid.org/0000-0002-7440-8864, PMID:29188449]
synonym: "Drug resistance" EXACT []
is_a: HP:0020169 ! Abnormal drug response
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-06T21:47:57Z

[Term]
id: HP:0020175
name: Reduced circulating cholinesterase activity
def: "Activity or concentration of cholinesterase in the blood circulation below the lower limit of normal." [https://orcid.org/0000-0002-8169-9049, PMID:29853783]
comment: Serum cholinesterase (butyrylcholinesterase (BChE)) is an enzyme that hydrolyzes acetylcholine. BChE is synthetized in the liver and has conventionally been used as a liver function test.
synonym: "Reduced cholinesterase level" EXACT []
is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-06T22:04:04Z

[Term]
id: HP:0020176
name: Cholesterol crystalluria
def: "The presence of cholesterol crystals in the urine." [PMID:8671802]
comment: Cholesterol crystals are transparent plates with well-defined edges and corners, which polarize light inconstantly. They are not found in normal subjects, and characteristically occur in patients with lipiduria secondary to nephrotic syndrome.
is_a: HP:0020074 ! Crystalluria
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-06T22:11:11Z

[Term]
id: HP:0020177
name: Abnormal CD8-positive TEMRA T cell proportion
def: "An abnormal proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative." []
synonym: "Abnormal proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated" EXACT []
is_a: HP:0410380 ! Abnormal CD8+ memory T cell proportion
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-06T22:18:57Z

[Term]
id: HP:0020178
name: Abnormal dendritic cell count
def: "A deviation from the normal count of dendritic cells in the peripheral blood circulation. Dendritic cells are of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative)." [CL:0000451, PMID:15795906]
comment: Dendritic cells (DC), the professional antigen-pre-senting cells that prime specific immune responses,comprise a very small percentage of circulating whiteblood cells.
is_a: HP:0011893 ! Abnormal leukocyte count
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-06T22:25:02Z

[Term]
id: HP:0020179
name: Abnormal circulating haptoglobin concentration
def: "A deviation from the normal concentration of haptoglobin in the blood circulation." [PMID:24809098]
comment: Haptoglobin is primarily produced in the liver and is functionally important for binding free hemoglobin fromlysed red cells in vivo, preventing its toxic effects.
synonym: "Abnormal haptoglobin level" EXACT []
is_a: HP:0010876 ! Abnormal circulating protein concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-11T20:28:25Z

[Term]
id: HP:0020180
name: Elevated haptoglobin level
def: "An abnormally high concentration of haptoglobin in the blood circulation. Haptoglobin is an acute-phase reactant whose levels can become elevated in the presence of infection and inflammation." [PMID:24809098]
is_a: HP:0020179 ! Abnormal circulating haptoglobin concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-11T20:30:03Z

[Term]
id: HP:0020181
name: Reduced haptoglobin level
def: "An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state." [PMID:24809098]
is_a: HP:0020179 ! Abnormal circulating haptoglobin concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-11T20:36:13Z

[Term]
id: HP:0020182
name: Abnormal circulating A-type atrial natriuretic peptide concentration
def: "A measurable change in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure." [HPO_CONTRIBUTOR:RGD_SJWang, PMID:28552863]
synonym: "Abnormal A-type atrial natriuretic peptide level" EXACT []
is_a: HP:6000692 ! Abnormal circulating atrial natriuretic peptide pro-hormone concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-24T16:39:04Z

[Term]
id: HP:0020183
name: Increased circulating A-type natriuretic peptide concentration
def: "A measurable elevation in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure." [HPO_CONTRIBUTOR:RGD_SJWang, PMID:28552863]
synonym: "Increased circulating A-type natriuretic peptide level" EXACT []
is_a: HP:0020182 ! Abnormal circulating A-type atrial natriuretic peptide concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-24T16:40:06Z

[Term]
id: HP:0020184
name: Decreased circulating A-type natriuretic peptide concentration
def: "A measurable reduction in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure." [HPO_CONTRIBUTOR:RGD_SJWang, PMID:28552863]
synonym: "Decreased circulating A-type natriuretic peptide level" EXACT []
is_a: HP:0020182 ! Abnormal circulating A-type atrial natriuretic peptide concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-07-24T16:42:47Z

[Term]
id: HP:0020185
name: Superior cerebellar dysplasia
def: "Abnormal morphological development of the superior part of the cerebellum." []
is_a: HP:0007033 ! Cerebellar dysplasia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-09-03T12:21:50Z

[Term]
id: HP:0020186
name: Multilobulated spleen
def: "The fetal spleen is lobulated, and these lobules normally disappear before the birth. Lobulation of the spleen may persist into adult life and be typically seen along the medial part of the spleen. A persisting lobule results in a variation in shape of the spleen." [PMID:23710135]
comment: Sometimes a splenic lobule may extend medially anterior to the upper pole of the left kidney and less often posterior to the upper pole of the left kidney. Although these lobules are not of any clinical importance, close relation of the splenic lobule to the upper pole of the left kidney may cause misinterpretations as a mass originating from the kidney by the radiologists.
synonym: "Multi-lobulated spleen" EXACT []
is_a: HP:0025408 ! Abnormal spleen morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-09-03T12:36:55Z

[Term]
id: HP:0020187
name: Thick pachygyria
def: "Pachygyria with a very thick cerebral cortex measuring 10-20 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age." [PMID:28440899]
synonym: "Pachygyria with cortical thickness > 10 mm" EXACT []
synonym: "Pachygyria with cortical thickness above 10 mm" EXACT []
is_a: HP:0001302 ! Pachygyria
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-09-03T12:56:36Z

[Term]
id: HP:0020188
name: Anterior predominant pachygyria with 5-10 mm cortical thickness
def: "Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria." [http://www.wikidata.org/entity/Q90573458, PMID:28440899]
is_a: HP:0020192 ! Pachygyria with 5-10 mm cortical thickness
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-09-03T12:58:34Z

[Term]
id: HP:0020189
name: Posterior predominant thick cortex pachygyria
def: "Pachygyria with cortical thickness above 10 mm with and a posterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria." [http://www.wikidata.org/entity/Q90573458, PMID:28440899]
synonym: "Occipital predomimant classic pachygyria" EXACT []
synonym: "Pachygyria with cortical thickness over 10 mm posterior predominant" EXACT []
is_a: HP:0020187 ! Thick pachygyria
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-09-03T13:01:16Z

[Term]
id: HP:0020190
name: Perisylvian predominant thick cortex pachygyria
def: "Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria." [http://www.wikidata.org/entity/Q90573458, PMID:28440899]
synonym: "Pachygyria with cortical thickness > 10 mm perisylvian predominant" EXACT []
is_a: HP:0020187 ! Thick pachygyria
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-09-03T13:03:33Z

[Term]
id: HP:0020191
name: Anterior predominant thick cortex pachygyria
def: "Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes." [http://www.wikidata.org/entity/Q90573458]
synonym: "Pachygyria with cortical thickness > 10 mm anterior predominant" EXACT []
is_a: HP:0020187 ! Thick pachygyria
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-09-03T13:06:53Z

[Term]
id: HP:0020192
name: Pachygyria with 5-10 mm cortical thickness
def: "Pachygyria with a mildly thickened cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age." [http://www.wikidata.org/entity/Q90573458, PMID:28440899]
is_a: HP:0001302 ! Pachygyria
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-09-03T13:36:14Z

[Term]
id: HP:0020193
name: Prolonged reptilase time
def: "An abnormally increased duration of the reptilase time. Reptilase time is a functional plasma clotting assay, which is based on the enzymatic activity of batroxobin. By specifically cleaving fibrinogen A from fibrinogen, batroxobin leads to the formation of a stable fibrin clot. The time, starting from the addition of batroxobin to the plasma sample, until clot formation is the reptilase time and is given in seconds." [PMID:23546720]
comment: Reptilase time may be increased with a deficiency of fibronogen. Unlike the thrombin time, this assay is not affected by the presence of heparin, hirudin, or direct thrombin inhibitors in a blood sample.
is_a: HP:0001928 ! Abnormality of coagulation
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-09-05T13:57:09Z

[Term]
id: HP:0020194
name: IgA heavy chain paraproteinemia
def: "An abnormal IgA heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells." [PMID:25125965]
synonym: "Alpha heavy chain disease" RELATED []
is_a: HP:0031049 ! Heavy-chain paraproteinemia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-09-05T14:01:38Z

[Term]
id: HP:0020195
name: IgG heavy chain paraproteinemia
def: "An abnormal IgG heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells." [PMID:22301495]
synonym: "Gamma heavy-chain disease" RELATED []
is_a: HP:0031049 ! Heavy-chain paraproteinemia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-09-05T14:04:32Z

[Term]
id: HP:0020196
name: IgM heavy chain paraproteinemia
def: "An abnormal IgM heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells." [PMID:17403946]
is_a: HP:0031049 ! Heavy-chain paraproteinemia
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-09-05T14:05:43Z

[Term]
id: HP:0020197
name: Increased circulating arachidonic acid concentration
def: "An increased circulation of arachidonic acid in the blood circulation." [https://orcid.org/0000-0002-8169-9049, PMID:30034875]
synonym: "Increased circulating arachidonate level" EXACT []
synonym: "Increased circulating arachidonic acid level" EXACT []
is_a: HP:0010964 ! Abnormal circulating long-chain fatty-acid concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-09-05T14:12:41Z

[Term]
id: HP:0020198
name: Abnormal circulating 18-hydroxycorticosterone level
def: "Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation." [PMID:2669615]
is_a: HP:0012112 ! Abnormal circulating corticosterone level
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-09-05T14:20:11Z

[Term]
id: HP:0020199
name: Decreased circulating 18-hydroxycortisone level
def: "A subnormal concentration of 18-Hydroxycorticosterone level in the blood circulation." []
is_a: HP:0020198 ! Abnormal circulating 18-hydroxycorticosterone level
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-09-05T14:21:53Z

[Term]
id: HP:0020200
name: Increased circulating 18-hydroxycortisone level
def: "An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation." [PMID:22238407]
is_a: HP:0020198 ! Abnormal circulating 18-hydroxycorticosterone level
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-09-05T14:22:21Z

[Term]
id: HP:0020201
name: Abnormal sarcomere morphology
def: "Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z disks." []
is_a: HP:0004303 ! Abnormal muscle fiber morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-12-23T15:56:20Z

[Term]
id: HP:0020202
name: Abnormal Z disk morphology
def: "Any structural anomaly of the Z disk, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached." [PMID:22028589]
comment: Z-discs (Z-disk, Z-line, Z-band) delineate the lateral borders of sarcomeres and are the smallest functional units in striated muscle. The core of a Z-disc consists of actin filaments coming from adjacent sarcomeres which are crosslinked by alpha-actinin molecules. Z-discs, which are difficult to detect in conventional light microscopy, appear in the longitudinal view of electron microscopy as electron dense bands with varying sizes, ranging from 30 to 50 nm in fast muscle and 100 t0 140 nm in slow muscle and cardiac myocytes.
is_a: HP:0020201 ! Abnormal sarcomere morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-12-23T15:57:40Z

[Term]
id: HP:0020203
name: Z-band streaming
def: "Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disk may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change." [PMID:1180479, PMID:22028589]
is_a: HP:0020202 ! Abnormal Z disk morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-12-23T15:58:23Z

[Term]
id: HP:0020204
name: Tubulointerstitial bacterial infiltration
def: "Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains." [https://orcid.org/0000-0003-2356-950X]
comment: Tubulointerstitial bacteria can be ascending or vascuolcentric/blood-born. This finding can be associated with neutrophil rich infiltrates.
synonym: "Renal tubulointerstitial bacterial organisms" EXACT []
is_a: HP:0032635 ! Tubulointerstitial microganismal infiltration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-12-23T16:29:36Z

[Term]
id: HP:0020205
name: Tubulointerstitial fungal infiltration
def: "Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains." [https://orcid.org/0000-0003-2356-950X]
comment: Tubulointerstitial fungi be ascending or vascuolcentric/blood-born. This finding can be associated with necrotizing tubulointerstitial lesions.
synonym: "Renal tubulointerstitial fungal organisms" EXACT []
is_a: HP:0032635 ! Tubulointerstitial microganismal infiltration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-12-23T16:33:20Z

[Term]
id: HP:0020206
name: Simple ear
def: "The pinna has fewer folds and grooves than usual." [PMID:15523657]
is_a: HP:0000377 ! Abnormal pinna morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2019-12-23T20:41:28Z

[Term]
id: HP:0020207
name: Reflex seizure
def: "Seizures precipitated by exogenous stimuli." [https://orcid.org/0000-0002-1735-8178, PMID:11422340]
comment: Included in 2001 ILAE Proposed Classification of Seizures. Seizures precipitated by fever, head injury, or alcohol withdrawal or anti-epileptic medication withdrawal are not provoked seizures.
is_a: HP:0001250 ! Seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2020-02-24T13:36:35Z

[Term]
id: HP:0020208
name: Eating-induced seizure
def: "A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period." [https://orcid.org/0000-0002-1735-8178, PMID:11422340]
is_a: HP:0020207 ! Reflex seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2020-02-24T13:39:28Z

[Term]
id: HP:0020209
name: Hot water-induced seizure
def: "A seizure precipitated by pouring cupfuls of very hot water (40 to 50 degrees Celsius) in rapid succession over the head. Bathing in this manner is the most common trigger." [https://orcid.org/0000-0002-1735-8178, PMID:11422340]
is_a: HP:0020207 ! Reflex seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2020-02-24T13:40:34Z

[Term]
id: HP:0020210
name: Praxis-induced seizure
def: "A seizure precipitated by complex, cognition-guided tasks often involving visuomotor coordination and decision-making." [https://orcid.org/0000-0002-1735-8178, PMID:11422340, PMID:24512781]
is_a: HP:0020207 ! Reflex seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2020-02-24T13:41:45Z

[Term]
id: HP:0020211
name: Proprioceptive-induced seizure
def: "A seizure precipitated by movement or a change in posture." [https://orcid.org/0000-0002-1735-8178, PMID:11422340]
is_a: HP:0020207 ! Reflex seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2020-02-24T13:46:03Z

[Term]
id: HP:0020212
name: Reading-induced seizure
def: "A seizure precipitated by reading." [https://orcid.org/0000-0002-1735-8178, PMID:11422340]
comment: These are typically manifest by myoclonic movements of the jaw or throat, increasing in frequency and potentially culminating in a bilateral tonic-clonic seizure if reading continues.
is_a: HP:0020207 ! Reflex seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2020-02-24T13:47:03Z

[Term]
id: HP:0020213
name: Somatosensory-induced seizure
def: "A somatosensory reflex seizure is a seizure precipitated by somatic stimulation of a specific part of the body in the absence of startle or surprise." [https://orcid.org/0000-0002-1735-8178, PMID:11422340]
is_a: HP:0020207 ! Reflex seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2020-02-24T13:48:34Z

[Term]
id: HP:0020214
name: Startle-induced seizure
def: "Startle-induced seizures are triggered by multiple and non-specific stimuli (auditory, somatosensory, and rarely visual) and are characterized by their sudden unexpected nature. Sudden noise rather than pure sound is the most effective acoustic stimulus." [https://orcid.org/0000-0002-1735-8178, PMID:11422340]
comment: Seizures are stereotyped and typically unilateral or bilateral tonic in nature.
is_a: HP:0020207 ! Reflex seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2020-02-24T13:51:07Z

[Term]
id: HP:0020215
name: Thinking-induced seizure
def: "Seizures induced by thinking and decision-making." [https://orcid.org/0000-0002-1735-8178, PMID:11422340]
comment: These have been reported occurring in response to higher nonverbal mental activity such as playing chess or card games, performing mathematical calculation, drawing complex figures, manipulating spatial information, and typing.
synonym: "Cognition induced seizure" EXACT []
is_a: HP:0020207 ! Reflex seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2020-02-24T13:53:17Z

[Term]
id: HP:0020216
name: Visually-induced seizure
def: "Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect." [https://orcid.org/0000-0002-1735-8178, PMID:11422340]
synonym: "Photosensitive seizure" EXACT []
is_a: HP:0020207 ! Reflex seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2020-02-24T13:55:09Z

[Term]
id: HP:0020217
name: Focal aware motor seizure
def: "A type of focal motor seizure in which awareness is retained throughout the seizure." [https://orcid.org/0000-0002-1735-8178, PMID:28276060, PMID:28276064]
synonym: "Focal motor aware seizure" EXACT []
is_a: HP:0002349 ! Focal aware seizure
is_a: HP:0011153 ! Focal motor seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2020-02-24T14:10:19Z

[Term]
id: HP:0020218
name: Focal aware atonic seizure
def: "A type of focal atonic seizure during which awareness is fully retained throughout." [https://orcid.org/0000-0002-1735-8178, PMID:11580774, PMID:28276060, PMID:28276064]
is_a: HP:0020217 ! Focal aware motor seizure
is_a: HP:0020220 ! Focal atonic seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2020-02-24T14:12:12Z

[Term]
id: HP:0020219
name: Motor seizure
def: "A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement." [https://orcid.org/0000-0002-1735-8178, PMID:28276060]
comment: This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized.
is_a: HP:0001250 ! Seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2020-02-24T14:20:36Z

[Term]
id: HP:0020220
name: Focal atonic seizure
def: "A focal seizure characterized at onset by sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting more than 500 ms but less than 2 seconds. It may involve the head, trunk, jaw or limb musculature." [https://orcid.org/0000-0002-1735-8178, PMID:11580774, PMID:28276060, PMID:28276064]
synonym: "Localised atonic seizure" EXACT []
synonym: "Localised hypotonic seizure" EXACT []
synonym: "Localized atonic seizure" EXACT []
synonym: "Localized hypotonic seizure" EXACT []
synonym: "Partial atonic seizure" EXACT []
synonym: "Partial hypotonic seizure" EXACT []
synonym: "Segmental atonic seizure" EXACT []
synonym: "Segmental hypotonic seizure" EXACT []
is_a: HP:0010819 ! Atonic seizure
is_a: HP:0011153 ! Focal motor seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2020-02-24T14:54:22Z

[Term]
id: HP:0020221
name: Clonic seizure
def: "A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive." [https://orcid.org/0000-0002-1735-8178, PMID:11580774]
comment: This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding clonic seizures when the onset is not known.
is_a: HP:0020219 ! Motor seizure
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2020-02-24T15:50:52Z

[Term]
id: HP:0020222
name: Hypohomocysteinemia
def: "A decreased concentration of homocysteine in the blood." [PMID:29018201]
synonym: "Lower blood homocysteine" EXACT []
is_a: HP:0010919 ! Abnormal circulating homocysteine concentration
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2022-10-04T17:59:43Z

[Term]
id: HP:0020223
name: Dermal sinus tract
def: "A dermal sinus tract is an abnormality present at birth over the dorsal midline where an abnormal epithelialized connection from the skin tracks inwards towards the spine, most commonly seen in the lumbosacral region." [PMID:31484633]
comment: The dermal sinus tracks in from the skin and may end in the soft tissues, epidural space, or intradurally, where it is commonly associated with (generally benign) intradural inclusion tumors (including dermoid, epidermoid, or teratoma), thickened fatty filum, tethered cord, or diastematomyelia (split cord syndrome). Dermal sinus tracts are different from innocuous coccygeal dimples, which are located lower within the gluteal cleft and are not associated with cutaneous stigmata; completely 'classic' dimples do not require further workup or follow-up. See Figure 1 of PMID:31484633.
is_a: HP:0034238 ! Closed neural tube defect
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
creation_date: 2022-10-04T18:12:37Z

[Term]
id: HP:0020224
name: Mammary duct ectasia
def: "A non-proliferative inflammatory disorder of the large duct (milk duct) of the breast; as such, it affects nipple and areola complex. The condition is characterized by focal dilatation of the lactiferous duct system is due to endoluminal changes, as well as the loss of duct wall elastin, leading to abnormally dilated and tortuous lactiferous ducts with associated periductal inflammation and fibrosis. Mammary duct ectasia may present with nipple discharge or palpable mass." [PMID:32491597]
is_a: HP:0031093 ! Abnormal breast morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-09-16T17:00:10Z" xsd:dateTime

[Term]
id: HP:0020225
name: Breast abscess
def: "A circumscribed area of pus or necrotic debris in the breast." []
is_a: HP:0025615 ! Abscess
is_a: HP:0031093 ! Abnormal breast morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-09-16T17:01:56Z" xsd:dateTime

[Term]
id: HP:0020226
name: Nipple tenderness
def: "Pain or discomfort produced by touching the nipple." []
is_a: HP:0012531 ! Pain
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-09-16T17:06:09Z" xsd:dateTime

[Term]
id: HP:0020227
name: Floating gallbladder
def: "An abnormal configuration in which the gallbladder is pedunculated, hanging free of the liver, and attached only by the cystic mesentery," [PMID:20529542]
is_a: HP:0012437 ! Abnormal gallbladder morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-09-16T17:09:59Z" xsd:dateTime

[Term]
id: HP:0020228
name: Biospecimen phenotypic feature
def: "A phenotypic abnormality obvserved in a biospecimen such as a biopsy or an extirpated tumor or tissue." []
is_a: HP:0000001 ! All
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T16:31:31Z" xsd:dateTime

[Term]
id: HP:0020229
name: Abnormal lymph-node biospecimen
def: "Any abnormal phenotypic feature observed in a biospecimen derived from a lymph node, generally obtained by lymph node biopsy (removal of lymph node tissue for microscopic examination)." [PMID:17067938]
comment: The lymph nodes are organized lymphoid organs that contain lymphocytes within a fine reticular stroma. The structures within a lymph node include the capsule, subcapsular sinus, cortex (B cell zone with follicles and germinal centers), paracortex (T cell zone), medullary sinuses, medullary cords and hilus.
is_a: HP:0020228 ! Biospecimen phenotypic feature
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T16:45:57Z" xsd:dateTime

[Term]
id: HP:0020230
name: Abnormal lymph-node tissue architecture
def: "Any phenotypic abnormality of the architecture of the tissue of a lymph node." []
comment: Each tissue is composed of many different cell types that assemble into organized patterns. Tissue architecture is defined by the cellular and extracellular compartments that cooperate with each other through division of labor.
is_a: HP:0020229 ! Abnormal lymph-node biospecimen
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T16:51:38Z" xsd:dateTime

[Term]
id: HP:0020231
name: Abnormal lymph-node cellular finding
def: "Any phenotypic abnormality within cells located in a lymph node." []
is_a: HP:0020229 ! Abnormal lymph-node biospecimen
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T16:53:04Z" xsd:dateTime

[Term]
id: HP:0020233
name: Abnormal lymph-node cellular antigen expression
def: "Abnormal expression of an antigen (marker) by cells located in a lymph node." []
is_a: HP:0020229 ! Abnormal lymph-node biospecimen
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T16:56:09Z" xsd:dateTime

[Term]
id: HP:0020234
name: Altered lymph-node tissue architecture
def: "An alteration that affects multiple components of the architecture of a lymph node." []
synonym: "Distorted lymph node architecture" EXACT []
is_a: HP:0020230 ! Abnormal lymph-node tissue architecture
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T16:56:56Z" xsd:dateTime

[Term]
id: HP:0020235
name: Effaced lymph-node architecture
def: "Effacement of architecture typically refers to a cellular infiltrate destroying the normal follicular architecture of a lymph node. This effacement may result in sheets of cells that do not form clear architecture (seen in many lymphomas) or may lead to replacement of the normal architecture by atypical architecture, for example effacement of normal lymph node architecture (including normal follicles and patent lymph node sinuses) by many abnormal follicles in follicular lymphoma." []
is_a: HP:0020234 ! Altered lymph-node tissue architecture
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T17:09:27Z" xsd:dateTime

[Term]
id: HP:0020236
name: Vaguely nodular lymph-node architecture
def: "In contrast to normal lymph node architecture or that of follicular lymphoma, where follicles are typically distinct and readily identifiable on H&E stained biopsy sections, the cells within an atypical lymph node may show what appear to groups of cells forming vague nodules but not forming clear follicles." []
comment: This finding, if not an artifact of poor tissue processing, favors lymphoma but may be seen in reactive states.
is_a: HP:0020234 ! Altered lymph-node tissue architecture
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T17:10:19Z" xsd:dateTime

[Term]
id: HP:0020237
name: Lymph-node capsular invasion by lymphocytes
def: "Migration of substantial numbers of lymphocytes into the capsule of a lymph node." []
comment: Lymph node capsules are formed by fibrous tissue encapsulating the lymph node, and typically have few or no lymphocytes within the capsule itself.
is_a: HP:0020230 ! Abnormal lymph-node tissue architecture
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T17:22:55Z" xsd:dateTime

[Term]
id: HP:0020238
name: Lymph-node extracapsular extension by lymph-node lymphocytes
def: "Migration of lymphocytes into the soft tissues surrounding the lymph node." []
comment: Lymph node capsules are formed by fibrous tissue encapsulating the lymph node, and typically the lymphocytes within a lymph node do not extravasate outside of the capsule into soft tissues surrounding the lymph node.
is_a: HP:0020230 ! Abnormal lymph-node tissue architecture
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T17:23:08Z" xsd:dateTime

[Term]
id: HP:0020239
name: Increased lymph-node epithelioid histiocyte count
def: "Number of epithelioid histiocytes (histiocytes are tissue-resident macrophages) located within a lymph node above the upper limit of normal." []
is_a: HP:0020231 ! Abnormal lymph-node cellular finding
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T17:28:51Z" xsd:dateTime

[Term]
id: HP:0020240
name: Scattered lymph node individual epithelioid histiocytes
def: "Many individual (not clustered) epithelioid histiocytes throughout at least part of a lymph node." []
comment: Histiocytes are tissue-resident macrophages with a moderate amount of cytoplasm that can occasionally show more abundant cytoplasm and appear similar to epithelial cells. These epithelioid histiocytes may be scattered and/or clustered together within lymph nodes under certain conditions, but are generally not prominent in benign non-reactive lymph nodes.
is_a: HP:0020239 ! Increased lymph-node epithelioid histiocyte count
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T17:29:25Z" xsd:dateTime

[Term]
id: HP:0020241
name: Clustered lymph node epithelioid histiocytes
def: "Formation of clusters (group of cells positioned near each other) of epithelioid histiocytes within a lymph node." []
comment: Histiocytes are tissue-resident macrophages with a moderate amount of cytoplasm that can occasionally show more abundant cytoplasm and appear similar to epithelial cells. These epithelioid histiocytes may be scattered and/or clustered together within lymph nodes under certain conditions, but are generally not prominent in benign non-reactive lymph nodes.
is_a: HP:0020239 ! Increased lymph-node epithelioid histiocyte count
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T17:29:50Z" xsd:dateTime

[Term]
id: HP:0020242
name: Abnormal lymph-node follicle architecture
def: "Any phenotypic abnormality of the architecture of follicles of a lymph node." [PMID:17067937]
comment: A lymph node follicle is a loosely arranged structure with an outer mantle of small T lymphocytes and a germinal center composed of B lymphocytes, follicular dendritic cells, and macrophages.
synonym: "Abnormal follicular lymph-node architecture" EXACT []
is_a: HP:0020230 ! Abnormal lymph-node tissue architecture
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T17:30:31Z" xsd:dateTime

[Term]
id: HP:0020243
name: Floral-pattern lymph node follicles
def: "Atypical lymph node follicles that have mantle zone cells invaginating/infiltrating into the follicle centers, which is said to confer a flower-like appearance." []
synonym: "Floral follicular lymph node architecture" EXACT []
synonym: "Floral growth pattern" EXACT []
is_a: HP:0020242 ! Abnormal lymph-node follicle architecture
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T17:33:40Z" xsd:dateTime

[Term]
id: HP:0020244
name: Colonization of follicles by lymphoma cells
def: "In contrast to follicular lymphoma, which typically is a lymphoma that forms follicles or potentially completely replaces normal follicles, some lymphomas (most commonly marginal zone lymphoma) can infiltrate normal follicles so both normal lymphocytes and the infiltrating lymphoma cells are present. This is called colonization of follicles by the lymphoma cells." []
synonym: "Follicular colonisation" EXACT uk_spelling []
synonym: "Follicular colonization" EXACT []
is_a: HP:0020242 ! Abnormal lymph-node follicle architecture
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T17:36:23Z" xsd:dateTime

[Term]
id: HP:0020245
name: Crowded lymph-node follicles
def: "Reduction in the average distance between adjacent lymph node follicles." []
comment: Follicles in lymph nodes are usually spaced apart, however in certain conditions such as florid reactive follicular hyperplasia and follicular lymphoma, the follicles can become very crowded, even back-to-back with few interfollicular cells in between.
synonym: "Crowded follicles" EXACT []
is_a: HP:0020242 ! Abnormal lymph-node follicle architecture
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T17:50:48Z" xsd:dateTime

[Term]
id: HP:0020246
name: Lymph-node follicular lysis
def: "An abnormal morphology of hyperplastic lymph node follicles characterized by distortion of the follicular architecture by tongues and clusters of dark blue mantle cells impinging on and invading the reactive germinal center (Mostly T cells and mantle-zone B cells)." [PMID:14502795]
synonym: "Follicular lysis" EXACT []
is_a: HP:0020242 ! Abnormal lymph-node follicle architecture
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T17:51:28Z" xsd:dateTime

[Term]
id: HP:0020247
name: Non-polarized lymph node germinal centers
def: "A loss of the typical polarization of the architecture of a lymph node germinal center." []
comment: Germinal centers typically have one side containing mostly larger centroblasts and the other side containing mostly small centrocytes. The side with more centroblasts appears darker on an H&E stained section and is termed the dark zone and the other side appears lighter and is termed the light zone. This polarization of germinal center topology is often visualized on H&E stained sections of reactive lymph nodes but may not be as obvious if the germinal centers are small or if the specific section happens to contain mostly dark zone or mostly light zone. This polarization is typically lost in follicular lymphomas.
is_a: HP:0020255 ! Abnormal lymph-node germinal center morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T18:54:26Z" xsd:dateTime

[Term]
id: HP:0020248
name: Irregularly shaped lymph node germinal centers
def: "A deviation from the typically fairly round or oval form of a lymph node germinal center." []
comment: Germinal centers may become more elongated and/or take on irregular shapes such as somewhat snake-like/serpentine or other shapes.
is_a: HP:0020255 ! Abnormal lymph-node germinal center morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T18:59:23Z" xsd:dateTime

[Term]
id: HP:0020249
name: Abnormal lymph-node marginal or mantle zone morphology
def: "An abnormality of the structure of the mantle or marginal zone of a lymph node." []
comment: The normal marginal zone is the area circumferentially adjacent to the mantle zone and distal to the germinal center of a reactive (secondary) follicle.
is_a: HP:0020242 ! Abnormal lymph-node follicle architecture
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T19:13:12Z" xsd:dateTime

[Term]
id: HP:0020250
name: Abnormal lymph node marginal zone morphology
comment: Marginal zones are not typically present in lymph nodes, and when they are, they are difficult to distinguish from mantle zones on H&E. Marginal zones are a rim/band of lymphocytes surrounding mantle zones in secondary follicles (those containing germinal centers), and are typically only visualized in specific locations such as Peyer patches of the small bowel, or spleen, and not normally seen in lymph nodes. Expansion of marginal zones should prompt evaluation for a possible marginal zone lymphoma.
is_a: HP:0020249 ! Abnormal lymph-node marginal or mantle zone morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T19:13:37Z" xsd:dateTime

[Term]
id: HP:0020251
name: Abnormal lymph node mantle zone morphology
is_a: HP:0020249 ! Abnormal lymph-node marginal or mantle zone morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T19:13:46Z" xsd:dateTime

[Term]
id: HP:0020253
name: Lymph node with expanded mantle zones
def: "Enlargement of the typical outer ring of small lymphocytes (mantle zone) surrounding a germinal center of a lymph node." []
comment: Secondary follicles (follicles with germinal centers) typically show mantle zones which are a rim or band of mostly B cells surrounding germinal centers that on H&E appears as densely packed small lymphocytes immediately surrounding germinal centers. The mantle zone is usually relatively thin (i.e. only a few rows of lymphocytes extending out from the germinal center), however may be significantly expanded, particularly in mantle cell lymphoma.
synonym: "Germinal centers with expanded mantle zones" EXACT []
synonym: "Germinal centres with expanded mantle zones" EXACT uk_spelling []
is_a: HP:0020251 ! Abnormal lymph node mantle zone morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T19:15:33Z" xsd:dateTime

[Term]
id: HP:0020254
name: Lymph node with poorly defined germinal center borders
def: "Reduced demarcation of the border between germinal centers and mantle zones. This border is typically seen as a crisp line on hematoxylin and eosin (H&E)-stained lymph node sections." []
comment: Although not necessarily a neoplastic feature, the border between germinal centers and mantle zones may become poorly demarcated in certain lymphomas.
is_a: HP:0020255 ! Abnormal lymph-node germinal center morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T19:16:18Z" xsd:dateTime

[Term]
id: HP:0020255
name: Abnormal lymph-node germinal center morphology
def: "Any phenotypic abnormality of germinal centers of a lymph node." [PMID:30410492]
comment: The germinal center is a specialized microstructure that forms in secondary lymphoid tissues, producing long-lived antibody secreting plasma cells and memory B cells, which can provide protection against reinfection.
is_a: HP:0020242 ! Abnormal lymph-node follicle architecture
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T19:18:31Z" xsd:dateTime

[Term]
id: HP:0020257
name: Mantle zone pattern
def: "This refers to an architectural pattern of infiltration where atypical lymphocytes surround germinal centers, often expanding the mantle zones but without effacing architecture." []
comment: This pattern may be observed in mantle cell lymphoma.
is_a: HP:0020251 ! Abnormal lymph node mantle zone morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T19:32:09Z" xsd:dateTime

[Term]
id: HP:0020258
name: Germinal centers with absent marginal zones
is_a: HP:0020250 ! Abnormal lymph node marginal zone morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T19:32:58Z" xsd:dateTime

[Term]
id: HP:0020261
name: Poorly defined primary lymph-node follicles
def: "Lack of the typical easily recognized delineation of primary follicles within lymph nodes." []
comment: Follicles generally are relatively distinct at low magnification on H&E stained slides, however may not be obvious on the H&E stained slide, requiring immunohistochemistry to confirm the presence of follicle formation.
is_a: HP:0020242 ! Abnormal lymph-node follicle architecture
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T19:36:39Z" xsd:dateTime

[Term]
id: HP:0020262
name: Progressive transformation of germinal centers
def: "This is a condition sometimes seen in a subset of germinal centers of reactive lymph nodes where germinal centers become enlarged and infiltrated by benign mantle zone cells and some T cells." [PMID:14502795]
comment: While PTGC is a relatively common finding, there is an association with nodular lymphocyte predominant Hodgkin lymphoma, and morphologically may mimic follicular lymphoma (as well as immunohistochemically with regard to BCL2 staining if not carefully evaluated at high magnification), particularly the floral variant.
synonym: "PTGC" EXACT abbreviation []
is_a: HP:0020255 ! Abnormal lymph-node germinal center morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T19:37:12Z" xsd:dateTime

[Term]
id: HP:0020263
name: Absent germinal center tingible body macrophages
def: "Lack of observable tingible body macrophages (TBMs) in germinal centers (GCs) of secondary lymphoid follicles. TBMs represent unique, large phagocytic cells that reside and are a subset of mononuclear phagocytes." [PMID:33967475]
comment: Germinal centers typically contain macrophages that are engulfing cells undergoing apoptosis from the antigen selection process. The macrophages have relatively abundant cytoplasm containing apoptotic debris and are termed tingible-body macrophages (tingible is a somewhat non-specific term simply meaning capable of being stained). Tingible-body macrophages may be rare or absent in abnormal germinal centers such as in follicular lymphoma. Tingible body macrophages owe their name to their ability to actively phagocytose apoptotic lymphoid cells, and the tingible bodies (TBs) observed in their cytoplasm are apoptotic bodies.
is_a: HP:0020255 ! Abnormal lymph-node germinal center morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T19:49:24Z" xsd:dateTime

[Term]
id: HP:0020264
name: Lack of germinal center mitotic figures
def: "Absence of extreme paucity of mitotic figures in a lymph node germinal center." []
comment: Germinal centers typically have many cells undergoing cell division and therefore mitotic figures are frequently seen within germinal centers. If multiple germinal centers are present, it is unusual not to see at least some mitotic figures. Absent/decreased mitotic figures is an abnormal finding typically seen in low grade follicular lymphomas.
is_a: HP:0020255 ! Abnormal lymph-node germinal center morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T19:54:40Z" xsd:dateTime

[Term]
id: HP:0020265
name: Non-polarized mantle zones
def: "Lack of the typical polarization of the outer ring of small lymphocytes (mantle zone) surrounding a germinal center of a lymph node." []
comment: Secondary follicles (follicles with germinal centers) typically show mantle zones which are a rim or band of mostly B cells surrounding germinal centers that on H&E appears as densely packed small lymphocytes immediately surrounding germinal centers. The mantle zones typically are thicker (are several rows of lymphocytes extending out from the germinal center) on one side and thinner (only one or very few rows of lymphocytes extending out from the germinal center) on the other side. This polarization is not always obvious but is often seen, and is often lost in some atypical conditions such as lymphomas involving or surrounding germinal centers.
is_a: HP:0020251 ! Abnormal lymph node mantle zone morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T19:55:20Z" xsd:dateTime

[Term]
id: HP:0020266
name: Hyalinized lymph-node vessels
def: "Hyalinized means to become clear/translucent such as collagen becoming more pale staining (collagen is typically quite eosinophilic, meaning attracted to the pink/red dye eosin); however, with regard to vessels in the lymph node, hyalinization is often used to describe vessel walls that appear markedly thickened or surrounded by eosinophilic material such as collagen, not necessarily translucent appearing." []
is_a: HP:0020230 ! Abnormal lymph-node tissue architecture
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T20:10:23Z" xsd:dateTime

[Term]
id: HP:0020267
name: Lymph-node follicular sclerosis
def: "Collagen deposition, typically with decreased cellularity, within lymph-node follicles." []
synonym: "Follicular sclerosis" EXACT []
is_a: HP:0020242 ! Abnormal lymph-node follicle architecture
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T20:12:24Z" xsd:dateTime

[Term]
id: HP:0020268
name: Compressed lymph-node sinuses
def: "Loss of the typical patency (openness) of lymph node sinuses." []
comment: Lymph node sinuses are structures that carry fluid and some cells traveling to and from the lymph node parenchyma, and often contain some histiocytes. These are normally patent but may be compressed by proliferating or infiltrating cells such as lymphoma to the point where they are no longer visible on routine H&E stained sections.
is_a: HP:0020230 ! Abnormal lymph-node tissue architecture
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T20:14:01Z" xsd:dateTime

[Term]
id: HP:0020269
name: Lymph-node proliferation centers
def: "Proliferation centers are a finding specific to chronic lymphocytic leukemia/small lymphocytic lymphoma where regions (typically relatively small, comparable to the size of a lymph node follicle) appear more pale on H&E stained sections (though they may become enlarged to merge together). These areas contain increased numbers of enlarged lymphoma cells with nucleoli (prolymphocytes and paraimmunoblasts) and show a higher proliferation rate (readily visualized with a Ki-67 immunohistochemical stain) than surrounding lymphoma cells. They can be mistaken as vague follicle formation and are therefore sometimes referred to as pseudofollicles." []
synonym: "Pseudofollicles" EXACT []
is_a: HP:0020230 ! Abnormal lymph-node tissue architecture
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T20:15:07Z" xsd:dateTime

[Term]
id: HP:0020270
name: Cytologic atypia in mantle cells
def: "Lymphocytes in the mantle zones of lymph node secondary follicles show cellular atypia such as enlarged size, increased cytoplasm, atypical distribution of chromatin, or irregular nuclear contours." []
comment: This finding may raise suspicion of a neoplasm of mantle zone cells such as mantle cell lymphoma. Other lymphomas with cytologic atypia such as marginal zone lymphoma may also replace normal mantle zone cells.
is_a: HP:0020231 ! Abnormal lymph-node cellular finding
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T20:16:11Z" xsd:dateTime

[Term]
id: HP:0020271
name: Increased lymph-node eosinophils
def: "Eosinophils count within a lymph node above normal limits." []
comment: Lymph nodes typically contain very few if any eosinophils but the number of eosinophils may be high in certain reactive or neoplastic states.
is_a: HP:0020231 ! Abnormal lymph-node cellular finding
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T20:39:36Z" xsd:dateTime

[Term]
id: HP:0020272
name: Increased lymph-node plasma cells
def: "Number of plasma cells per lymph node above the upper limit of normal." []
comment: Lymph nodes typically contain some plasma cells and the number of plasma cells may be increased, sometimes forming sheets of plasma cells, in certain reactive or neoplastic conditions.
is_a: HP:0020231 ! Abnormal lymph-node cellular finding
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T20:40:09Z" xsd:dateTime

[Term]
id: HP:0020273
name: High lymph node non-germinal center mitotic activity
def: "Increased numbers of mitotic figures outside of germinal centers." []
comment: Within lymph nodes, germinal centers typically show a high rate of cell division and correspondingly high number of cells undergoing mitosis. Cells outside of germinal centers typically show low levels of cell division visualized as low numbers of mitotic figures. Increased numbers of mitotic figures outside of germinal centers may be seen in certain reactive or neoplastic states.
is_a: HP:0020231 ! Abnormal lymph-node cellular finding
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T20:42:17Z" xsd:dateTime

[Term]
id: HP:0020274
name: Lymph-node lymphocyte monocytoid morphology
def: "Lymphocytes that show morphologic features resembling monocytes, such as increased cytoplasm and slightly enlarged nuclei that are more irregular than most lymph node lymphocytes." []
comment: This finding may be seen in reactive conditions such as monocytoid B-cell hyperplasia of certain infections or in neoplastic states such as certain marginal zone lymphomas.
is_a: HP:0020231 ! Abnormal lymph-node cellular finding
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T20:43:15Z" xsd:dateTime

[Term]
id: HP:0020275
name: Reduced lymph node lymphocyte morphological variability
def: "Decreased morphological variability of lymph node lymphocytes as compared to the typically somewhat heterogeneous morphology of populations of benign lymph node lymphocytes." []
comment: Lymph nodes often contain primarily small lymphocytes but typically have some admixed larger lymphocytes and show a little morphological variability. Neoplastic states may show increased morphological variability or decreased morphological variability, the latter showing unusually monotonous morphology among the population of lymphocytes.
synonym: "Monomorphic cells" EXACT []
is_a: HP:0020231 ! Abnormal lymph-node cellular finding
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T20:48:12Z" xsd:dateTime

[Term]
id: HP:0020276
name: Increased large lymphocytes in lymph node
def: "An increased number of large lymphocytes within a lymph node compared to a normal non-reactive lymph node." []
comment: Lymph nodes will often show primarily small lymphocytes with relatively few scattered large lymphocytes (often termed immunoblasts). Increased large cells may indicate a reactive condition such as mononucleosis or a neoplastic condition. It may also help differentiate two different neoplasms such as marginal zone lymphoma (which often has increased scattered large cells) and mantle cell lymphoma (which usually has decreased scattered large cells).
is_a: HP:0020231 ! Abnormal lymph-node cellular finding
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T20:51:47Z" xsd:dateTime

[Term]
id: HP:0020277
name: Hodgkin morphology cells
def: "Hodgkin cells are typically large and often show very large nucleoli and sometimes binucleation or multinucleation. Reed-Sternberg cells are a type of Hodgkin cell that is binucleated with very large nucleoli that stains slightly red on H&E stained sections (often said to mimic owl eyes). Other Hodgkin cell morphologies include cells that are dying with dark basophilic (blue) nuclei that appear somewhat smudged (mummified cells) and cells with a large space around or adjacent to the nuclei and retracted cytoplasm after tissue fixation (lacunar cells). Hodgkin cells are characteristic of Hodgkin lymphoma, however several non-Hodgkin lymphomas and noN-neoplastic conditions are known to sometimes show a few similar morphology cells." [PMID:31194473]
is_a: HP:0020231 ! Abnormal lymph-node cellular finding
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T20:56:04Z" xsd:dateTime

[Term]
id: HP:0020278
name: Abnormal lymph-node lymphoctye nuclear morphology
is_a: HP:0020231 ! Abnormal lymph-node cellular finding
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T20:58:14Z" xsd:dateTime

[Term]
id: HP:0020279
name: Irregular lymph-node lymphocyte nuclei
def: "Lymph node lymphocyte nuclei that are more irregular than the typical round to slightly oval shapes of the majority of lymph node lymphocytes." []
comment: More irregularly shaped nuclei can be seen in normal germinal centers (i.e. centrocytes) and in many types of lymphomas.
is_a: HP:0020278 ! Abnormal lymph-node lymphoctye nuclear morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T21:00:50Z" xsd:dateTime

[Term]
id: HP:0020280
name: Lymph-node Dutcher bodies
def: "Dutcher bodies are collections of immunoglobulin protein that overlie or invaginate into the nucleus of plasma cells. These nuclear pseudoinclusions can occasionally be seen in reactive states and may be increased in specific neoplastic conditions." [PMID:31309083]
is_a: HP:0020231 ! Abnormal lymph-node cellular finding
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T21:07:57Z" xsd:dateTime

[Term]
id: HP:0020281
name: Finely dispersed lymph node lymphocyte chromatin
def: "Nuclei of lymphocytes with less dense, evenly distributed chromatin than the normal densely packed, often clumped chromatin of mature lymphocytes." []
comment: This finding is seen in very immature lymphocyte precursors (i.e. lymphoblasts in lymphoblastic leukemia/lymphoma) or blastoid cells such as in blastoid mantle cell lymphoma.
is_a: HP:0020282 ! Abnormal lymph-node lymphocyte chromatin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T21:10:16Z" xsd:dateTime

[Term]
id: HP:0020282
name: Abnormal lymph-node lymphocyte chromatin
def: "Any phenotypic abnormality of the chromatin (complex of DNA and protein which comprises chromosomes) of lymphocytes that are located within a lymph node." []
is_a: HP:0020278 ! Abnormal lymph-node lymphoctye nuclear morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T21:12:30Z" xsd:dateTime

[Term]
id: HP:0020283
name: Clumping of lymph node lymphocyte chromatin
def: "Nuclei of lymphocytes show multiple small densely packed areas of chromatin that appear as relatively evenly spaced clumps of basophilic (blue) staining within the nuclei on Hematoxylin and eosin (H&E) stained sections." []
comment: This is a somewhat non-specific finding but one that is often more prominent in lymphocytes of chronic lymphocytic leukemia/small lymphocytic lymphoma.
is_a: HP:0020282 ! Abnormal lymph-node lymphocyte chromatin
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T21:12:49Z" xsd:dateTime

[Term]
id: HP:0020284
name: Abnormal lymph-node lymphocyte cytoplasm morphology
def: "Any phenotypic abnormality of the cytoplasm (material located within the cell membrane but excluding the nucleus) of lymphocytes that are located within a lymph node." []
is_a: HP:0020231 ! Abnormal lymph-node cellular finding
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T21:14:57Z" xsd:dateTime

[Term]
id: HP:0020285
name: Decreased lymph node lymphocyte cytoplasm
def: "The amount of cytoplasm in lymphocytes is even less than the relatively little cytoplasm found in the majority of lymphocytes within lymph nodes." []
comment: This finding is typically seen in centrocytes, either within normal germinal centers or neoplastic centrocytes in follicles of follicular lymphoma.
synonym: "Scant lymph node lymphocyte cytoplasm" EXACT []
is_a: HP:0020284 ! Abnormal lymph-node lymphocyte cytoplasm morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T21:15:10Z" xsd:dateTime

[Term]
id: HP:0020286
name: Increased lymph node lymphocyte cytoplasm
def: "Increased amount of cytoplasm compared to the majority of lymphocytes in a benign lymph node." []
comment: This finding may be observed in reactive or neoplastic lymphocytes located in a lymph node.
is_a: HP:0020284 ! Abnormal lymph-node lymphocyte cytoplasm morphology
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T21:16:06Z" xsd:dateTime

[Term]
id: HP:0020287
name: Abnormal level of lymph-node cellular CD19 expression
def: "Detection of an abnormal level of CD19 on the cell(s) of interest in a lymph node with the use of anti-CD19 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry)." []
comment: Most B-lineage lymphomas and leukemias show CD19 expression. Neoplastic plasma cells (plasma cells are derived from B cells), however, often lose CD19 expression.
is_a: HP:0020288 ! Abnormal lymph-node cellular B-cell marker expression
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T21:24:24Z" xsd:dateTime

[Term]
id: HP:0020288
name: Abnormal lymph-node cellular B-cell marker expression
def: "Abnormal expression of an antigen (marker) that is normally expressed by B lymphocytes." []
comment: This term is intended to be applied to findings of lymph-node biopsies in diseases such as lymphoma.
is_a: HP:0020233 ! Abnormal lymph-node cellular antigen expression
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T21:25:13Z" xsd:dateTime

[Term]
id: HP:0020289
name: Abnormal level of lymph-node cellular CD20 expression
def: "Detection of abnormal levels of CD20 on the cell(s) of interest with the use of anti-CD20 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry)." []
comment: CD20 is normally expressed fairly highly on B-lineage cells, except plasma cells (down-regulate CD20 expression to the point where only a small subset of cells show expression).
is_a: HP:0020288 ! Abnormal lymph-node cellular B-cell marker expression
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T21:25:52Z" xsd:dateTime

[Term]
id: HP:0020290
name: CD79a expression
def: "Detection of the presence of CD79a on the cell(s) of interest with the use of anti-CD79a antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry)." []
comment: Most B-lineage lymphomas and leukemias as well as plasma cell neoplasms (plasma cells are derived from B cells) show CD79a expression.
is_a: HP:0430091 ! Marker expression
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T21:26:16Z" xsd:dateTime

[Term]
id: HP:0020291
name: Increased lymph-node cellular CD20 expression
def: "Increased levels of CD20 expression compared to normal B cells." []
comment: CD20 is normally expressed fairly highly on B-lineage cells, but occasionally may show increased levels of expression relative to normal resting B cells. Increased expression is best visualized using flow cytometry when a population of normal B cells is present for comparison.
is_a: HP:0020289 ! Abnormal level of lymph-node cellular CD20 expression
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T21:27:29Z" xsd:dateTime

[Term]
id: HP:0020292
name: Decreased lymph-node cellular CD20 expression
def: "Decreased levels of CD20 expression compared to normal B cells." []
comment: CD20 is normally expressed fairly highly on B-lineage cells, but occasionally may show decreased levels of expression relative to normal resting B cells. Decreased expression is best visualized using flow cytometry when a population of normal B cells is present for comparison.
is_a: HP:0020289 ! Abnormal level of lymph-node cellular CD20 expression
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T21:27:35Z" xsd:dateTime

[Term]
id: HP:0020293
name: Decreased lymph-node cellular CD19 expression
def: "Decreased levels of CD19 expression compared to normal B cells." []
comment: CD19 is normally expressed fairly highly on B-lineage cells, but occasionally may show decreased levels of expression relative to normal resting B cells. Decreased expression is best visualized using flow cytometry when a population of normal B cells is present for comparison.
is_a: HP:0020287 ! Abnormal level of lymph-node cellular CD19 expression
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T21:28:23Z" xsd:dateTime

[Term]
id: HP:0020294
name: Increased lymph-node cellular CD19 expression
def: "Increased levels of CD19 expression compared to normal B cells." []
comment: CD19 is normally expressed fairly highly on B-lineage cells, but occasionally may show increased levels of expression relative to normal resting B cells. Increased expression is best visualized using flow cytometry when a population of normal B cells is present for comparison.
is_a: HP:0020287 ! Abnormal level of lymph-node cellular CD19 expression
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T21:28:31Z" xsd:dateTime

[Term]
id: HP:0020295
name: PAX5 expression
def: "Detection of the presence of PAX5 on the cell(s) of interest with the use of anti-PAX5 antibodies conjugated to a chromogen (for immunohistochemistry)." []
comment: PAX5 is a transcription factor that helps control B-cell lineage differentiation and is expressed in the nucleus of immature and mature B cells (including most neoplastic forms), but not in plasma cells.
is_a: HP:0430091 ! Marker expression
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T21:28:56Z" xsd:dateTime

[Term]
id: HP:0020296
name: Germinal center B-lymphocyte BCL2 expression
def: "Positive staining for BCL2 apoptosis regulator protein in lymph-node germinal center B cells." []
comment: The BCL2 family of proteins regulate apoptosis, and BCL2 itself displays anti-apoptotic functions. In normal germinal centers, where antigenic selection leads to apoptosis of B cells that recognize self proteins, BCL2 is not expressed. Most low grade follicular lymphomas show aberrant expression of the anti-apoptotic protein BCL2, presumably helping to prevent the germinal center derived neoplastic B cells from undergoing apoptosis. Expression of BCL2 by germinal center B cells is abnormal and typically seen in low grade follicular lymphomas and in at least a subset of B cells in many high grade follicular lymphomas as well. Careful inspection is required when interpreting the stain, however, as normal T cells and occasionally infiltrating mantle zone B cells may also be seen in germinal centers, and these should not be interpreted as BCL2 expression in germinal center B cells.
is_a: HP:0020233 ! Abnormal lymph-node cellular antigen expression
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
property_value: terms:date "2023-11-10T21:31:00Z" xsd:dateTime

[Term]
id: HP:0025004
name: Hallux rigidus
def: "Osteoarthritis of the metatarsophalangeal joint of the first toe." [https://orcid.org/0000-0002-0736-9199, PMID:24649409]
comment: Hallux rigidus is characterized by arthralgia, which is usually worsened by walking. With time the joint enlarges and the symptoms become more pronounced with pain at the dorsal bony prominence of the first metatarsophalengeal joint (MTPJ) and decreased range of motion, especially dorsiflexion. In this process the destruction of the cartilage commonly starts at the dorsal portion of the metatarsal head and the bony prominence might impinge against the proximal phalanx.. Physical examination usually shows a painful, tender and swollen first MTPJ with limited motion and pain usually when dorsiflexed. Typical radiographic findings are asymmetric joint narrowing and a flattened metatarsal head. With advancement of the disease more of the joint surface is involved and subchondral cysts, sclerosis and bony proliferation at the joint margins occur and the joint narrowing progresses [PMID:24649409].
synonym: "Arthritis of the big toe" EXACT layperson []
xref: SNOMEDCT_US:6654000
xref: UMLS:C0264134
is_a: HP:0001844 ! Abnormal hallux morphology
property_value: dc:date "2016-06-25T09:23:22Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025005
name: Thickening of glomerular capillary wall
def: "Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself." [https://orcid.org/0000-0002-0736-9199, PMID:6879730]
is_a: HP:0025006 ! Abnormal glomerular capillary morphology
property_value: dc:date "2016-08-06T22:31:55Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025006
name: Abnormal glomerular capillary morphology
def: "A structural anomaly of the capillary blood vessels in the renal glomerulus." []
synonym: "Abnormalities of the glomerular capillary wall" RELATED []
is_a: HP:0000095 ! Abnormal renal glomerulus morphology
property_value: dc:date "2016-08-06T22:53:26Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025007
name: Ectopic fovea
def: "An abnormal anatomic position of the fovea, the small, central pit composed of closely packed cones that is located in the macula of the retina." []
synonym: "Ectopic macula" BROAD []
is_a: HP:0000493 ! Abnormal foveal morphology
property_value: dc:date "2016-08-06T23:07:53Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025008
name: Tracheal tug on inspiration
def: "Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree." [https://orcid.org/0000-0002-0003-6754]
is_a: HP:0002795 ! Abnormal respiratory system physiology
property_value: dc:date "2016-08-06T23:22:12Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025009
name: Forward slanting upper incisors
def: "The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards." []
synonym: "Forward directed upper incisors" EXACT []
synonym: "Proclination of the upper incisors" EXACT []
synonym: "Protruding upper incisors" EXACT []
is_a: HP:0011062 ! Misalignment of incisors
property_value: dc:date "2016-08-07T12:52:55Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025010
name: Foveal atrophy
def: "Partial or complete loss of foveal tissue that was once present." [https://orcid.org/0000-0002-0736-9199]
comment: Loss of foveal tissue (atrophy) may be inferred by a medical history of loss of vision and the observation of a foveal lesion such as reduced foveal thickness on optical coherence tomography (OCT).
is_a: HP:0000493 ! Abnormal foveal morphology
property_value: dc:date "2016-08-07T13:52:09Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025011
name: Pyriform aperture stenosis
def: "Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose." [https://orcid.org/0000-0002-0736-9199]
comment: Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of nasal airway obstruction that clinically mimics choanal atresia, but needs to be differentiated from the latter because of the widely divergent modes of management [PMID:21423901].
is_a: HP:0005105 ! Abnormal nasal morphology
property_value: dc:date "2016-08-07T22:32:49Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025012
name: Status cribrosum
def: "Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations." [https://orcid.org/0000-0002-0736-9199]
is_a: HP:0002134 ! Abnormal basal ganglia morphology
property_value: dc:date "2016-08-07T23:40:40Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025013
name: Decerebrate rigidity
def: "A type of rigidity that is manifested by an exaggerated extensor posture of all extremities." [https://orcid.org/0000-0002-0003-6754]
comment: Decerebrate rigidity results from release of vestibular nuclei from cerebral control because of a brainstem lesion (i.e., decerebration).
synonym: "Decerebrate posturing" EXACT []
is_a: HP:0002063 ! Rigidity
property_value: dc:date "2016-08-09T11:43:43Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025014
name: Subcutaneous spheroids
def: "Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray." [PMID:20847697]
comment: This feature can be observed in individuals with the classic type of Ehlers Danlos syndrome.
is_a: HP:0001482 ! Subcutaneous nodule
property_value: dc:date "2016-08-12T11:18:11Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025015
name: Abnormal vascular morphology
is_a: HP:0002597 ! Abnormality of the vasculature
is_a: HP:0030680 ! Abnormal cardiovascular system morphology
property_value: dc:date "2016-08-12T11:24:56Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025016
name: Abnormal capillary morphology
def: "A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues." []
is_a: HP:0033353 ! Abnormal blood vessel morphology
property_value: dc:date "2016-08-12T11:42:27Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025017
name: Capillary fragility
def: "Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises)." []
comment: The formation of petechiae distal to a tourniquet or sphygmomanometer on release of pressure is known as the Rumpel-Leede sign. This sign was reported in 1909 by Theodor Rumpel, and again independently in 1911 by Carl Stockbridge Leede. Historically, the tourniquet test (or Rumpel-Leede Capillary-Fragility Test) was used to assess patients for thrombocytopenia and capillary fragility. Today, the Rumpel-Leede sign may be observed iatrogenically in the context of continuous blood-pressure monitoring [PMID:24382085].
is_a: HP:0025018 ! Abnormal capillary physiology
property_value: dc:date "2016-08-12T11:50:33Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025018
name: Abnormal capillary physiology
def: "A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues." []
is_a: HP:0030163 ! Abnormal vascular physiology
property_value: dc:date "2016-08-12T11:56:48Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025019
name: Arterial rupture
def: "Sudden breakage of an artery leading to leakage of blood from the circulation." [https://orcid.org/0000-0002-0736-9199]
is_a: HP:0025323 ! Abnormal arterial physiology
property_value: dc:date "2016-08-12T12:03:50Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025020
name: Elevated prostate-specific antigen level
def: "An increased concentration of prostate specific antigen (PSA) in the circulation." [PMID:26366236]
comment: Prostate-specific antigen (PSA) screening for prostate cancer has been common practice although the utility of general PSA screening has been called into question.
is_a: HP:0010876 ! Abnormal circulating protein concentration
property_value: dc:date "2016-08-12T12:13:13Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025021
name: Abnormal erythrocyte sedimentation rate
def: "A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling." [PMID:10524488]
synonym: "Abnormal ESR" EXACT layperson []
synonym: "Abnormal Westergren sedimentation rate" EXACT []
is_a: HP:0001939 ! Abnormality of metabolism/homeostasis
property_value: dc:date "2016-08-22T10:26:22Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025022
name: Decreased erythrocyte sedimentation rate
def: "A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling." [PMID:10524488]
synonym: "Decreased ESR" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961]
synonym: "Low ESR" EXACT layperson []
is_a: HP:0025021 ! Abnormal erythrocyte sedimentation rate
property_value: dc:date "2016-08-22T10:39:06Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025023
name: Rectal atresia
def: "A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum." [https://orcid.org/0000-0002-0736-9199, PMID:20006038]
synonym: "Atresia of the rectum" EXACT []
is_a: HP:0002034 ! Abnormal rectum morphology
is_a: HP:0011100 ! Intestinal atresia
property_value: dc:date "2016-08-26T11:13:58Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025024
name: Megarectum
def: "An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum." [https://orcid.org/0000-0002-0736-9199, PMID:10869000]
comment: Patients with idiopathic megarectum have a dilated rectum but the proximal colon is usually of normal diameter. The condition usually starts in childhood or adolescence, and fecal impaction is common. By contrast, patients with idiopathic megacolon usually do not experience impaction, and the symptoms often begin in adult life [PMID:9301507].
is_a: HP:0002034 ! Abnormal rectum morphology
property_value: dc:date "2016-08-26T11:18:38Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025025
name: Rectovestibular fistula
def: "A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening." [https://orcid.org/0000-0002-0736-9199]
comment: The condition can cause feces and gas to exit the vaginal vestibule.
synonym: "Vestibular fistula" EXACT []
is_a: HP:0100590 ! Rectal fistula
property_value: dc:date "2016-08-26T11:49:07Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025026
name: H-type rectovestibular fistula
def: "Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract." [PMID:20223314]
is_a: HP:0025025 ! Rectovestibular fistula
property_value: dc:date "2016-08-26T11:58:54Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025027
name: Osteoma cutis
def: "The term osteoma refers to the anomalous presence of ossification (bone formation) in the interior of the dermis or epidermis. The dermal or subcutaneous bone formation presents as stony hard nodules. The osteomata appear as irregular, hardened small nodules that are well circumscribed and generally of the same color as the skin." [https://orcid.org/0000-0002-0736-9199, PMID:21152797, PMID:26273166]
synonym: "Cutaneous osteosis" EXACT []
synonym: "Miliary osteoma" EXACT []
synonym: "Osteomatosis" EXACT []
is_a: HP:0200036 ! Skin nodule
property_value: dc:date "2016-08-26T12:11:51Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025028
name: Abnormal enteric nervous system morphology
def: "A structural anomaly of nerves of the enteric nervous system." []
comment: The enteric nervous system represents a collection of about 500 million neurons that control virtually all gut functions (including motility), largely independent from the central nervous system. The enteric nervous system is located in the gut wall and extends throughout its length from the esophagus to the internal anal sphincter.
synonym: "Abnormality of enteric nervous system morphology" EXACT []
is_a: HP:0002242 ! Abnormal intestine morphology
is_a: HP:0012331 ! Abnormal autonomic nervous system morphology
property_value: dc:date "2016-08-27T11:10:48Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025029
name: Abnormal enteric neuron morphology
synonym: "Abnormality of enteric neuron morphology" EXACT []
is_a: HP:0025028 ! Abnormal enteric nervous system morphology
property_value: dc:date "2016-08-27T11:22:10Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025030
name: Enteric neuronal degeneration
def: "Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons." []
synonym: "Degenerative enteric neuropathy" RELATED []
is_a: HP:0025029 ! Abnormal enteric neuron morphology
property_value: dc:date "2016-08-27T11:43:00Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025031
name: Abnormality of the digestive system
comment: Any anomaly of the digestive system, a collection of organs that is made up of the gastrointestinal tract and the liver, pancreas, and gallbladder. The gastrointestinal tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus, including the mouth, esophagus, stomach, small intestine, large intestine and anus.
is_a: HP:0000118 ! Phenotypic abnormality
property_value: dc:date "2016-08-27T13:44:32Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025032
name: Abnormality of digestive system physiology
def: "A functional anomaly of the digestive system." []
is_a: HP:0025031 ! Abnormality of the digestive system
property_value: dc:date "2016-08-27T13:58:05Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025033
name: Abnormal digestive system morphology
def: "A structural anomaly of the digestive system." []
synonym: "Abnormality of digestive system morphology" EXACT []
is_a: HP:0025031 ! Abnormality of the digestive system
property_value: dc:date "2016-08-27T13:58:23Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025034
name: Abnormal morphology of erythroid progenitor cell
def: "Abnormal form of the progenitor cells committed to the erythroid lineage." []
is_a: HP:0012130 ! Abnormal erythroid lineage cell morphology
property_value: dc:date "2016-09-02T11:14:05Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025035
name: Abnormal proerythroblast morphology
def: "Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers." []
is_a: HP:0012130 ! Abnormal erythroid lineage cell morphology
property_value: dc:date "2016-09-02T11:16:54Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025037
name: Hypothalamic gliosis
def: "Focal proliferation of glial cells in the hypothalamus." [https://orcid.org/0000-0002-0736-9199, PMID:26530930]
is_a: HP:0002171 ! Gliosis
property_value: dc:date "2016-09-20T10:59:06Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025038
name: Intratesticular abscess
def: "A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins." [PMID:11598263]
synonym: "Testicular abscess" EXACT []
is_a: HP:0000035 ! Abnormal testis morphology
is_a: HP:0025615 ! Abscess
property_value: dc:date "2016-09-21T11:02:09Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025039
name: Basal ganglia edema
def: "Swelling within the basal ganglia due to the accumulation of fluid." []
synonym: "Basal ganglia edema" EXACT []
synonym: "Edema of the basal ganglia" EXACT []
synonym: "Oedema of the basal ganglia" EXACT []
is_a: HP:0002134 ! Abnormal basal ganglia morphology
property_value: dc:date "2016-09-25T14:00:54Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025040
name: Thalamic edema
def: "Swelling within the thalamus due to the accumulation of fluid." []
synonym: "Edema of the thalamus" EXACT []
synonym: "Oedema of the thalamus" EXACT []
synonym: "Thalamic edema" EXACT []
is_a: HP:0010663 ! Abnormal thalamus morphology
property_value: dc:date "2016-09-25T14:11:37Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025041
name: Thalamic calcification
def: "Calcium deposition in the thalamus." []
is_a: HP:0010663 ! Abnormal thalamus morphology
property_value: dc:date "2016-09-25T14:15:01Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025042
name: Abnormality of mesenteric lymph nodes
def: "A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery." []
is_a: HP:0002733 ! Abnormal lymph node morphology
property_value: dc:date "2016-09-25T14:21:49Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025043
name: Enlarged mesenteric lymph node
def: "Increase in size of one or more mesenteric lymph nodes." []
comment: Mesenteric lymph nodes measured by CT as being larger than 10 mm are considered enlarged.
is_a: HP:0025042 ! Abnormality of mesenteric lymph nodes
property_value: dc:date "2016-09-25T14:26:25Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025044
name: Lung abscess
def: "A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity." [PMID:26366400]
is_a: HP:0011947 ! Respiratory tract infection
is_a: HP:0025615 ! Abscess
property_value: dc:date "2016-09-25T14:30:50Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025045
name: Abnormal brain lactate level by MRS
def: "A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS)." []
synonym: "Abnormal lactate level by magnetic resonance spectroscopy" EXACT []
is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS
property_value: dc:date "2016-09-25T16:43:58Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025046
name: Reduced brain lactate level by MRS
def: "A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS)." []
synonym: "Reduced brain lactate level by magnetic resonance spectroscopy" EXACT []
is_a: HP:0025045 ! Abnormal brain lactate level by MRS
property_value: dc:date "2016-09-25T16:45:22Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025047
name: Abnormal brain choline level by MRS
def: "A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS)." []
synonym: "Abnormal brain choline level by magnetic resonance spectroscopy" EXACT []
is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS
property_value: dc:date "2016-09-25T16:48:23Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025048
name: Reduced brain choline level by MRS
def: "An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS)." []
synonym: "Reduced brain choline level by magnetic resonance spectroscopy" EXACT []
is_a: HP:0025047 ! Abnormal brain choline level by MRS
property_value: dc:date "2016-09-25T16:49:14Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025049
name: Abnormal brain creatine level by MRS
comment: A deviation from normal in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).
synonym: "Abnormal brain creatine level by magnetic resonance spectroscopy" EXACT []
is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS
property_value: dc:date "2016-09-26T08:45:22Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025050
name: Elevated brain creatine level by MRS
def: "An increase in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS)." []
synonym: "Elevated brain creatine level by magnetic resonance spectroscopy" EXACT []
is_a: HP:0025049 ! Abnormal brain creatine level by MRS
property_value: dc:date "2016-09-26T08:46:45Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025051
name: Reduced brain creatine level by MRS
def: "A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS)." [PMID:12557293, PMID:15625559]
synonym: "Low brain creatine phosphate" EXACT []
synonym: "Reduced brain creatine level by magnetic resonance spectroscopy" EXACT []
is_a: HP:0025049 ! Abnormal brain creatine level by MRS
property_value: dc:date "2016-09-26T08:48:05Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025052
name: Abnormal brain N-acetyl aspartate level by MRS
def: "A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS)." []
synonym: "Abnormal brain N-acetyl aspartate level by magnetic resonance spectroscopy" EXACT []
is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS
property_value: dc:date "2016-09-26T08:50:52Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025053
name: Elevated brain N-acetyl aspartate level by MRS
def: "An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS)." []
synonym: "Elevated brain N-acetyl aspartate level by magnetic resonance spectroscopy" EXACT []
is_a: HP:0025052 ! Abnormal brain N-acetyl aspartate level by MRS
property_value: dc:date "2016-09-26T08:52:49Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025057
name: Abnormal olfactory lobe morphology
def: "A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell." []
synonym: "Abnormality of olfactory lobe morphology" EXACT []
is_a: HP:0100547 ! Abnormal forebrain morphology
property_value: dc:date "2016-09-26T09:03:16Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025058
name: Hypothalamic atrophy
def: "Partial or complete wasting (loss) of hypothalamus tissue that was once present." []
synonym: "Atrophy of the hypothalamus" EXACT []
is_a: HP:0012286 ! Abnormal hypothalamus morphology
property_value: dc:date "2016-09-26T09:07:40Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025059
name: Splenic abscess
def: "A circumscribed area of pus or necrotic debris in the parenchyma of the spleen." [PMID:21319348]
comment: Splenic abscesses generally occur in patients with neoplasia, immunodeficiency, trauma, metastatic infection, splenic infarct or diabetes.
is_a: HP:0025408 ! Abnormal spleen morphology
property_value: dc:date "2016-09-26T09:11:25Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025060
name: Multifocal splenic abscess
def: "Multiple abscess lesions in the spleen." []
synonym: "Multilocular splenic abscess" EXACT []
is_a: HP:0025059 ! Splenic abscess
property_value: dc:date "2016-09-26T09:19:25Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025061
name: Unifocal splenic abscess
def: "Single (solitary) abscess in the spleen." []
synonym: "Solitary splenic abscess" EXACT []
synonym: "Unilocular splenic abscess" EXACT []
is_a: HP:0025059 ! Splenic abscess
property_value: dc:date "2016-09-26T09:21:20Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025062
name: Geophagia
def: "The practice of eating earth or soil-like substrates such as clay or chalk." [PMID:23816735]
synonym: "Geophagy" EXACT []
is_a: HP:0011856 ! Pica
property_value: dc:date "2016-09-26T09:47:56Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025063
name: Scaphoid abdomen
def: "The anterior abdominal wall is sunken and presents a concave rather than a convex contour." []
comment: Scaphoid abdomen can be observed in diseases such as congenital diaphragmatic hernia (since the abdominal contents can be in the thorax).
is_a: HP:0011458 ! Abdominal symptom
property_value: dc:date "2016-09-26T09:54:43Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025064
name: Thalamic hemorrhage
def: "Bleeding in the thalamus." []
comment: Thalamic hemorrhage may be observed in individuals with hypertension. In both the acute and chronic phases of bleeding, prominent susceptibility effect, seen as hypointense blooming on sequences, is typically seen upon magnetic resonance imaging.
synonym: "Thalamic hemorrhage" EXACT []
is_a: HP:0010663 ! Abnormal thalamus morphology
property_value: dc:date "2016-09-26T10:03:34Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025065
name: Abnormal mean corpuscular volume
def: "A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters." []
synonym: "Abnormal erythrocyte volume" EXACT []
synonym: "Abnormal MCV" EXACT abbreviation []
is_a: HP:0001877 ! Abnormal erythrocyte morphology
property_value: dc:date "2016-09-26T10:08:33Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025066
name: Decreased mean corpuscular volume
def: "A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters)." []
synonym: "Decreased MCV" EXACT abbreviation []
synonym: "Microcytosis" EXACT []
synonym: "Reduced erythrocyte volume" EXACT []
is_a: HP:0025065 ! Abnormal mean corpuscular volume
property_value: dc:date "2016-09-26T10:10:48Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025068
name: Incomitant strabismus
def: "Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort." [https://orcid.org/0000-0003-0986-4123]
is_a: HP:0000486 ! Strabismus
property_value: dc:date "2016-09-26T10:25:28Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025069
name: Concomitant strabismus
def: "Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing." []
synonym: "Comitant strabismus" EXACT []
is_a: HP:0000486 ! Strabismus
property_value: dc:date "2016-09-26T10:29:59Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025070
name: Abnormal U wave
def: "An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3." [PMID:22665396]
comment: U waves represent prolonged repolarisation of myocardial M cells. Under normal conditions the M cells are electrically coupled to adjacent cell layers. However, in conditions that produce electrical uncoupling, these M cells have significant effects on repolarisation producing prolonged rounded ST-T waves or U waves. The finding of U wave inversion on an ECG at rest or baseline is a non-specific finding. It is significant when observed post exercise, being originally described in early 1940s. Subsequent studies in the late 1970s, demonstrated a significant correlation of U wave inversion with either left main or LAD disease.
is_a: HP:0003115 ! Abnormal EKG
property_value: dc:date "2016-09-26T10:36:56Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025071
name: U wave inversion
def: "Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves." []
comment: Inverted U wave may be a sign of coronary artery disease, hypertension, valvular heart disease, congenital heart disease, cardiomyopathy, or hyperthyroidism. In individuals with acute chest pain, it may be a sign of myocardial ischemia.
is_a: HP:0025070 ! Abnormal U wave
property_value: dc:date "2016-09-26T10:39:43Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025072
name: Prominent U wave
def: "Increased amplitude of the U wave, defined as an amplitude greater than 1-2mm or 25 percent of the height of the T wave." []
synonym: "Increased U wave amplitude" EXACT []
is_a: HP:0025070 ! Abnormal U wave
property_value: dc:date "2016-09-26T10:42:48Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025073
name: Exercise-induced U wave inversion
def: "U wave inversion that is induced by exercise stress testing." [PMID:22665396]
is_a: HP:0025071 ! U wave inversion
property_value: dc:date "2016-09-26T10:44:21Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025074
name: Abnormal QRS complex
def: "An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram." []
is_a: HP:0003115 ! Abnormal EKG
property_value: dc:date "2016-09-26T10:46:17Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025075
name: Increased QRS voltage
def: "Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm)." []
is_a: HP:0025076 ! Abnormal QRS voltage
property_value: dc:date "2016-09-26T10:48:06Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025076
name: Abnormal QRS voltage
def: "Abnormal amplitude of the QRS complex of the electrocardiogram (EKG)." []
is_a: HP:0025074 ! Abnormal QRS complex
property_value: dc:date "2016-09-26T10:50:26Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025077
name: Decreased QRS voltage
def: "Reduced amplitude (height) of the QRS complex of the electrocardiogram (EKG), defined as amplitudes of all the QRS complexes in the limb leads are less than 5 mm or amplitudes of all the QRS complexes in the precordial leads less than 10 mm." []
is_a: HP:0025076 ! Abnormal QRS voltage
property_value: dc:date "2016-09-26T10:50:45Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025078
name: Electrical alternans
def: "The QRS complexes of the electrocardiogram alternate in height." [PMID:8222799]
is_a: HP:0025076 ! Abnormal QRS voltage
property_value: dc:date "2016-09-26T10:52:41Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025079
name: Pancreatic abscess
def: "A circumscribed area of pus or necrotic debris in the parenchyma of the pancreas." []
synonym: "Pancreas abscess" EXACT []
is_a: HP:0012090 ! Abnormal pancreas morphology
is_a: HP:0025615 ! Abscess
property_value: dc:date "2016-09-26T11:01:28Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025080
name: Orthokeratotic hyperkeratosis
def: "A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei." []
comment: Hyperkeratosis is most commonly orthokeratotic.
is_a: HP:0000962 ! Hyperkeratosis
property_value: dc:date "2016-10-12T23:40:17Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025081
name: Darier's sign
def: "A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP." [PMID:24701633]
is_a: HP:0001025 ! Urticaria
property_value: dc:date "2016-10-12T23:46:34Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025082
name: Abnormal cutaneous elastic fiber morphology
def: "Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils." [PMID:12082143, PMID:21738362]
comment: Elastic fibers help the skin return to its normal configuration after being stretched or deformed. The elastic fibers consist of two components: microfibrils and matrix elastin. The microfibrillar component amounts to only 15% of the elastic fiber, whereas the amorphous, electron-lucid elastin makes up 85% of the fiber. In light microscope sections that are routinely stained, elastic fibers are inconspicuous. With special elastic tissue stains, such as orcein or resorcin-fuchisin, or in plastic-embedded sections they are found entwined among the collagen bundles [PMID:21738362].
synonym: "Abnormal cutaneous elastic fibre morphology" EXACT uk_spelling []
is_a: HP:0011121 ! Abnormal skin morphology
property_value: dc:date "2016-10-15T12:16:20Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025083
name: Elevated dermal desmosine content
def: "An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin." [PMID:2307214]
comment: Disorders of elastosis may show an increased content of desmosines, whereas elastolytic disorders may show a reduced content of desmosine.
is_a: HP:0034924 ! Abnormal dermis morphology
property_value: dc:date "2016-10-15T13:13:02Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025084
name: Folliculitis
def: "Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule." []
comment: In contrast to folliculitis, perifolliculitis refers to inflammatory cells, usually lymphocytes, within the perifollicular tissues with focal extension into the adjacent reticular dermis. Folliculitis and perifolliculitis can occur independently or incombination owing to follicular disruption and irritation.
synonym: "Follicular pustule" EXACT []
synonym: "Hair follicle inflammation" EXACT []
is_a: HP:0011123 ! Inflammatory abnormality of the skin
property_value: dc:date "2016-10-15T13:35:26Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025085
name: Bloody diarrhea
def: "Passage of many stools containing blood." []
comment: Diarrhea that contains bright red or maroon-colored blood may be referred to as hematochezia, while melena is used to describe black, tarry, and smelly diarrhea.
synonym: "Blood in stool" BROAD layperson []
synonym: "Bloody bowel movement" EXACT layperson []
synonym: "Bloody diarrhea" EXACT layperson []
synonym: "Bloody stool" BROAD layperson []
is_a: HP:0002014 ! Diarrhea
property_value: dc:date "2016-10-15T13:58:14Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025086
name: Bloody mucoid diarrhea
def: "Passage of many stools containing blood and mucus." []
synonym: "Bloody mucoid diarrhea" EXACT []
is_a: HP:0025085 ! Bloody diarrhea
property_value: dc:date "2016-10-15T13:59:04Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025087
name: Delayed recoil upon stretching of skin
def: "Area of skin requiring an increased amount of time to return to its original shape after being stretched." []
comment: see PMID:23919031
is_a: HP:0008067 ! Abnormally lax or hyperextensible skin
property_value: dc:date "2016-10-15T14:50:00Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025088
name: Onychomadesis
def: "Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth." [PMID:24882996, PMID:25473242, PMID:28207011]
comment: Onychomadesis is defined as proximal nail plate separation from the nail matrix and nail bed caused by a temporary arrest in nail matrix activity, and may present as a Beau's line.
is_a: HP:0001806 ! Onycholysis
property_value: dc:date "2016-10-24T00:35:53Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025089
name: Feculent vomiting
def: "Vomiting of material that is of fecal origin." []
comment: Feculent vomiting is usually due to mechanical intestinal obstruction but it can be due to paralytic obstruction (adynamic ileus).
synonym: "Faecal vomiting" EXACT uk_spelling []
synonym: "Fecal vomiting" EXACT []
synonym: "Stercoraceous vomiting" EXACT []
synonym: "Vomiting faecal matter" EXACT uk_spelling []
synonym: "Vomiting fecal matter" EXACT []
is_a: HP:0002013 ! Vomiting
property_value: dc:date "2016-10-24T00:38:50Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025090
name: Abnormal large intestinal mucosa morphology
def: "A structural anomaly of the mucous lining of the large intestine." []
is_a: HP:0002250 ! Abnormal large intestine morphology
property_value: dc:date "2016-10-24T00:55:54Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025092
name: Epidermal acanthosis
def: "Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin)." []
comment: Note that we use the preferred label 'Epidermal acanthocytosis' to distinguish this term from acanthocytosis of red blood cells.
synonym: "Acanthosis" EXACT []
synonym: "Acanthotic epidermis" EXACT []
synonym: "Epidermal hyperplasia" RELATED []
synonym: "Thickening of upper layer of skin" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
is_a: HP:0011124 ! Abnormal epidermal morphology
property_value: dc:date "2016-10-24T01:14:11Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025093
name: Peripapillary exudate
def: "A retinal exudate in the area surrounding the optic nerve head." []
synonym: "Peripapillary exudation" EXACT []
is_a: HP:0001147 ! Retinal exudate
property_value: dc:date "2016-10-24T01:19:32Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025094
name: Disciform macular scar
def: "A subretinal scar with a disc-like shape in the region of the macula." []
is_a: HP:0200056 ! Macular scar
property_value: dc:date "2016-10-24T01:29:42Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025095
name: Sneeze
def: "A sudden violent, spasmodic, audible expiration of breath through the nose and mouth." []
is_a: HP:0025142 ! Constitutional symptom
property_value: dc:date "2016-10-24T01:36:17Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025096
name: Paroxysmal sneezing
def: "Unprovoked explosive pathological sneezing." [PMID:17388999]
is_a: HP:0025095 ! Sneeze
property_value: dc:date "2016-10-24T01:37:09Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025097
name: Eyelid myoclonus
def: "Marked, involuntary jerking of the eyelids." []
comment: Some literature refers to eyelid myoclonia as a disease entity (Jeavons syndrome) that is characterized by episodes of eyelid myoclonus with absences.
synonym: "Blepharoclonus" EXACT []
synonym: "Eyelid myoclonia" RELATED []
is_a: HP:0001336 ! Myoclonus
property_value: dc:date "2016-10-28T05:55:32Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025098
name: Dysgenesis of the hypothalamus
def: "Structural abnormality of the hypothalamus related to defective development." []
comment: Note that the term hypothalamic dysgenesis is generally used to refer to a morphological abnormality of the hypothalamus that is of presumed developmental (rather than acquired) origin.
synonym: "Hypothalamic dysgenesis" EXACT []
is_a: HP:0012286 ! Abnormal hypothalamus morphology
property_value: dc:date "2016-10-28T06:41:35Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025099
name: Dysgenesis of the thalamus
def: "Structural abnormality of the thalamus related to defective development." []
comment: Note that the term thalamic dysgenesis is generally used to refer to a morphological abnormality of the thalamus that is of presumed developmental (rather than acquired) origin.
synonym: "Thalamic dysgenesis" EXACT []
is_a: HP:0010663 ! Abnormal thalamus morphology
property_value: dc:date "2016-10-28T06:51:03Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025100
name: Abnormal hippocampus morphology
def: "Any structural anomaly of the hippocampus," []
comment: The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum.
synonym: "Abnormal morphology of the hippocampus" EXACT []
synonym: "Abnormality of hippocampus morphology" EXACT []
is_a: HP:0007343 ! Abnormal morphology of the limbic system
property_value: dc:date "2016-10-28T07:12:41Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025101
name: Dysgenesis of the hippocampus
def: "Structural abnormality of the hippocampus related to defective development." []
comment: Note that the term hippocampal dysgenesis is generally used to refer to a morphological abnormality of the hippocampus that is of presumed developmental (rather than acquired) origin.
synonym: "Hippocampal dysgenesis" EXACT []
is_a: HP:0025100 ! Abnormal hippocampus morphology
property_value: dc:date "2016-10-28T07:15:06Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025102
name: Dysgenesis of the basal ganglia
def: "Structural abnormality of the basal ganglia related to defective development." []
comment: Note that the term basal ganglia dysgenesis is generally used to refer to a morphological abnormality of the basal ganglia that is of presumed developmental (rather than acquired) origin.
synonym: "Basal ganglia dysgenesis" EXACT []
is_a: HP:0002134 ! Abnormal basal ganglia morphology
property_value: dc:date "2016-10-28T07:21:20Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025103
name: Umbilicated nodule
def: "A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated)." [PMID:24050295]
is_a: HP:0200036 ! Skin nodule
property_value: dc:date "2016-10-28T07:30:43Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025104
name: Capillary malformation
def: "A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules)." [PMID:22483320, PMID:25864701]
comment: There are many different classifications, and some authors treat the term capillary malformation as being synonymous with port wine stain (nevus flammeus). We refer to the detailed classification of Happle (PMID:25864701), which we do not completely follow.
is_a: HP:0011355 ! Localized skin lesion
property_value: dc:date "2016-10-28T23:39:18Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025105
name: Nevus anemicus
def: "A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anemic spots." [PMID:22483320, PMID:25864701]
synonym: "Naevus anaemicus" EXACT []
is_a: HP:0025104 ! Capillary malformation
property_value: dc:date "2016-10-28T23:49:41Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025106
name: Nevus roseus
def: "A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life." [PMID:22483320, PMID:25864701]
is_a: HP:0025104 ! Capillary malformation
property_value: dc:date "2016-10-28T23:53:08Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025107
name: Cutis marmorata telangiectatica congenita
def: "A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible." [PMID:22483320, PMID:25864701]
is_a: HP:0025104 ! Capillary malformation
property_value: dc:date "2016-10-29T00:22:27Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025108
name: Angioma serpentinum
def: "Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis." [PMID:25864701]
comment: Two different forms can be distinguished. Diffuse, non-segmental angioma serpiginosum occurs as a hereditary trait, and autosomal dominant transmission is presently assumed.
is_a: HP:0025104 ! Capillary malformation
property_value: dc:date "2016-10-29T00:31:03Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025109
name: Reduced red cell pyruvate kinase level
def: "Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate." [PMID:7949104]
synonym: "Reduced erythrocyte pyruvate kinase activity" EXACT []
is_a: HP:0030272 ! Abnormal erythrocyte enzyme concentration or activity
property_value: dc:date "2016-10-29T00:37:18Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025110
name: Placoid macular lesion
def: "Yellow/white, sharply delineated lesion, typically of inflammatory nature, involving the macula." []
is_a: HP:0030500 ! Yellow/white lesions of the macula
property_value: dc:date "2016-11-01T01:20:32Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025112
name: Auditory sensitivity
def: "Decreased tolerance to sound." []
comment: Sound sensitivity impliees a difficulty tolerating sounds which do not seem loud or unpleasant to others.
synonym: "Noise sensitivity" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389]
is_a: HP:5200058 ! Sensory hypersensitivity
property_value: dc:date "2016-11-01T01:30:30Z" xsd:dateTime
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-0736-9199
property_value: terms:contributor https://orcid.org/0000-0002-4142-7153
property_value: terms:contributor https://orcid.org/0000-0002-4422-1708
property_value: terms:contributor https://orcid.org/0000-0003-3777-1389
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025113
name: Misophonia
def: "Misophonia is characterized by strong physiological, emotional, and behavioral reactions to auditory, visual, and/or kinesthetic stimuli of different nature regardless of their physical characteristics. These misophonic responses include anger, general discomfort, disgust, anxiety, and avoidance and escape behaviors." [PMID:35682372]
is_a: HP:5200060 ! Auditory hypersensitivity
property_value: dc:date "2016-11-01T01:33:52Z" xsd:dateTime
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-0736-9199
property_value: terms:contributor https://orcid.org/0000-0002-4142-7153
property_value: terms:contributor https://orcid.org/0000-0002-4422-1708
property_value: terms:contributor https://orcid.org/0000-0003-3777-1389
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025114
name: Hypergranulosis
def: "Hypergranulosis is an increased thickness of the stratum granulosum." []
comment: Note that the epidermis includes five main layers: the stratum corneum, stratum lucidium, stratum granulosum, stratum spinosum, and stratum germinativum. This term refers to thickening that primarily affects the stratum granulosum.
is_a: HP:0011368 ! Epidermal thickening
property_value: dc:date "2016-11-01T01:48:14Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025115
name: Civatte bodies
def: "Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant" [PMID:23919028]
comment: The presence of numerous civatte bodies (CBs) in biopsies is a characteristic finding in skin lesions of patients with various dermatoses, particularly lichen planus (LP) and discoid lupus erythematosus (DLE). Achille Civatte (1877-1956) was a French dermatologist.
synonym: "Colloid bodies" EXACT []
synonym: "Colloid bodies of Civatte" EXACT []
synonym: "Cytoid bodies" EXACT []
synonym: "Hyaline bodies" EXACT []
is_a: HP:0011124 ! Abnormal epidermal morphology
property_value: dc:date "2016-11-01T01:58:56Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025116
name: Fetal distress
def: "An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile." []
comment: Fetal distress in itself is a non-specific term as the various parameters characterizing the type and degree of distress are themselves ill defined. Nonethless the term is in broad clinical use and thus is included as an HPO term. It is preferable to annotate with more precise terms if possible.
synonym: "Foetal distress" EXACT uk_spelling []
is_a: HP:0034059 ! Abnormal fetal physiology
property_value: dc:date "2016-11-01T10:13:06Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025117
name: Rete ridge flattening
def: "Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance." [PMID:20548894]
synonym: "Flattened rete pegs" EXACT []
synonym: "Flattened rete ridges" EXACT []
is_a: HP:0034767 ! Abnormal rete ridge morphology
property_value: dc:date "2016-11-01T10:52:20Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025118
name: Lip discoloration
def: "Lightening or darkening of the lips from their usual coloring." []
is_a: HP:0032453 ! Abnormal lip pigmentation
property_value: dc:date "2016-11-01T11:25:02Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025119
name: Violet lip discoloration
def: "An alteration of the color of the lip to take on a violet color. This term does not include cyanosis." [PMID:24346922]
comment: This feature may be seen rarely as a paraneoplastic manifestation.
is_a: HP:0025118 ! Lip discoloration
property_value: dc:date "2016-11-01T11:25:57Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025121
name: obsolete Simple partial occipital seizures
comment: Simple partial occipital seizures is being retired because the clinical manifestations used for seizure classification do not hold true to anatomical landmarks at this level of granularity. An additional dimension based on the anatomical onset of seizures would be too imprecise, and in many instances be incorrect. Whilst clinicians do still talk about a frontal/occipital/temporal/etc. lobe seizure, this is based on assumptions, typical features, or additional EEG or imaging findings.
property_value: dc:date "2016-11-10T11:43:51Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
is_obsolete: true
replaced_by: HP:0011165

[Term]
id: HP:0025122
name: Sawtooth acanthosis
def: "A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis." [PMID:19061615]
synonym: "Sawtoothed acanthosis" EXACT []
is_a: HP:0025092 ! Epidermal acanthosis
property_value: dc:date "2016-11-14T01:39:51Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025123
name: White streaks/specks on enamel.
def: "Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks." []
is_a: HP:0011073 ! Abnormality of dental color
property_value: dc:date "2016-11-14T01:47:26Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025124
name: Fragile teeth
def: "A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma." []
synonym: "Enamel with tendency to chip" EXACT []
synonym: "Spontaneous tooth fracture" EXACT []
is_a: HP:0006482 ! Abnormal dental morphology
property_value: dc:date "2016-11-14T01:53:11Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025125
name: White lesion of the oral mucosa
def: "White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps or surface ulcerations and collapsed bullae can appear white." []
is_a: HP:0011830 ! Abnormal oral mucosa morphology
property_value: dc:date "2016-11-14T02:08:04Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025126
name: Oral hairy leukoplakia
def: "A corrugated white lesion of the oral mucosa that usually occurs on the lateral or ventral surfaces of the tongue and may have a shaggy or frayed appearance." []
is_a: HP:0025125 ! White lesion of the oral mucosa
property_value: dc:date "2016-11-14T02:15:28Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025127
name: Actinic keratosis
def: "A scaly, crusty lesion caused by damage from the ultraviolet radiation of the sun, with typical location on sun-exposed areas of the skin. Actinic keratosis lesions are often elevated, rough, and wartlike, and may be red, or occasionally tan, pink, or flesh-toned in color." []
comment: Up to ten percent of untreated actinic keratoses develop into squamous cell carcinoma of the skin.
synonym: "Solar keratosis" EXACT []
is_a: HP:0008069 ! Neoplasm of the skin
property_value: dc:date "2016-11-14T02:23:13Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025128
name: Reduced intraabdominal adipose tissue
def: "An abnormally reduced amount of adipose tissue in the abdominal cavity." []
is_a: HP:0040063 ! Decreased adipose tissue
property_value: dc:date "2016-11-14T02:33:27Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025129
name: Abnormal small intestinal mucosa morphology
def: "A structural anomaly of the mucous lining of the small intestine." []
is_a: HP:0002244 ! Abnormal small intestine morphology
property_value: dc:date "2016-11-15T11:57:47Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025130
name: Decreased small intestinal mucosa lactase level
def: "Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges." []
synonym: "Lactase deficiency" EXACT []
is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity
is_a: HP:0025129 ! Abnormal small intestinal mucosa morphology
property_value: dc:date "2016-11-15T12:01:54Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025131
name: Finger swelling
def: "Enlargement of the soft tissues of one or more fingers." [PMID:16269085, PMID:19946526, PMID:24758199, PMID:9715244]
synonym: "Swelling of fingers" EXACT plural_form []
synonym: "Swollen finger" EXACT plural_form []
synonym: "Swollen fingers" EXACT []
is_a: HP:0001167 ! Abnormal finger morphology
property_value: dc:date "2016-11-15T12:08:31Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025132
name: Abnormal circulating estrogen level
def: "A deviation from normal concentration of the hormone estrogen in the blood circulation." []
comment: Clinical estrogen tests measure one of three components: estrone (E1), estradiol (E2), or estriol (E3).
synonym: "Abnormal circulating estrogen level" EXACT []
synonym: "Abnormal estrogen level" EXACT []
synonym: "Abnormal oestrogen level" EXACT uk_spelling []
is_a: HP:0033799 ! Abnormal circulating sex hormone concentration
property_value: dc:date "2016-11-27T13:46:29Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025133
name: Abnormal serum estradiol
def: "A deviation from normal concentrations of estradiol in the circulation." []
comment: Estradiol is the most biologically prevalent and active compound of a class of steroids called estrogens
is_a: HP:0025132 ! Abnormal circulating estrogen level
property_value: dc:date "2016-11-27T13:52:20Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025134
name: Increased serum estradiol
def: "An elevation above normal limits of the concentration of estradiol in the circulation." []
synonym: "Increased estradiol level" EXACT []
synonym: "Increased serum oestradiol" EXACT []
is_a: HP:0025133 ! Abnormal serum estradiol
property_value: dc:date "2016-11-27T14:09:28Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025135
name: Abnormal serum estriol
def: "A deviation from normal concentration of estriol in the circulation." []
is_a: HP:0025132 ! Abnormal circulating estrogen level
property_value: dc:date "2016-11-27T14:10:45Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025136
name: Increased serum estriol
def: "An elevation above normal limits of estriol concentration in the circulation." []
is_a: HP:0025135 ! Abnormal serum estriol
property_value: dc:date "2016-11-27T14:13:00Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025137
name: Decreased serum estriol
def: "A reduction below normal limits of estriol in the circulation." []
is_a: HP:0025135 ! Abnormal serum estriol
property_value: dc:date "2016-11-27T14:13:33Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025138
name: Abnormal serum estrone
def: "A deviation from the normal concentration of circulating estrone." []
is_a: HP:0025132 ! Abnormal circulating estrogen level
property_value: dc:date "2016-11-27T14:14:35Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025139
name: Increased serum estrone
def: "An elevation above normal limits of the concentration of estrone in the circulation." []
is_a: HP:0025138 ! Abnormal serum estrone
property_value: dc:date "2016-11-27T14:15:18Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025140
name: Decreased serum estrone
def: "A reduction below normal limits of the concentration of estrone in the circulation." []
is_a: HP:0025138 ! Abnormal serum estrone
property_value: dc:date "2016-11-27T14:15:48Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025141
name: Gingival calcification
def: "Ectopic deposition of calcium salts found in the gingiva." [PMID:25928877]
synonym: "Gingival calcifications" EXACT []
is_a: HP:0000168 ! Abnormality of the gingiva
is_a: HP:0010766 ! Ectopic calcification
property_value: dc:date "2016-11-27T14:27:44Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025142
name: Constitutional symptom
def: "A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual." []
comment: Note that we use the preferred term label constitutional symptom because this reflects common usage, but we do not restrict the term or its descendents to the narrow meaning of symptom, i.e., a complaint related by a patient to a physician. There is no generally accepted classification of what defines a constitutional symptom, but examples include weight loss, fatigue, general weakness, night sweats, shaking, chills, fever, and vomiting.
is_a: HP:0000118 ! Phenotypic abnormality
property_value: dc:date "2016-11-29T11:02:54Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025143
name: Chills
def: "A sudden sensation of feeling cold." []
comment: The word chills can also refer to an episode of shivering, accompanied by paleness and feeling cold.
synonym: "Chills" EXACT layperson []
is_a: HP:0025142 ! Constitutional symptom
property_value: dc:date "2016-11-29T11:10:01Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025144
name: Shivering
def: "Involuntary contraction or twitching of the muscles." []
comment: Shivering is a physiologic method of heat production in man and other mammals. Shivering is a bodily function in response to fever, early hypothermia or feeling cold.
synonym: "Shivering" EXACT layperson []
synonym: "Shuddering" EXACT layperson []
is_a: HP:0025142 ! Constitutional symptom
property_value: dc:date "2016-11-29T11:13:35Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025145
name: Rigors
def: "Severe chills with violent shivering. A rigor is an episode of shaking or exaggerated shivering which can occur with a high fever." []
comment: A sudden attack of severe shivering accompanied by chills (a feeling of coldness) is called a rigor and may be associated with a marked rise in body temperature. Patients often describe rigors as an attack of uncontrollable shaking. Rigors are often a sign of infection, particularly bacterial infection.
synonym: "Rigours" EXACT uk_spelling []
is_a: HP:0025143 ! Chills
is_a: HP:0025144 ! Shivering
property_value: dc:date "2016-11-29T11:15:45Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025146
name: Foveal degeneration
def: "Deterioration of the tissue of the fovea, i.e.,the region of sharpest vision within the macula of the retina." []
is_a: HP:0000493 ! Abnormal foveal morphology
is_a: HP:0000608 ! Macular degeneration
property_value: dc:date "2016-11-29T11:24:05Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025147
name: Beaten bronze macular sheen
def: "A shiny appearance of the macula, which is often called a beaten bronze appearance." []
comment: This feature may be seen in Stargardt disease.
synonym: "Beaten metal macular appearance" EXACT []
synonym: "Beaten-bronze macular appearance" EXACT []
synonym: "Beaten-bronze macular sheen" EXACT []
is_a: HP:0008002 ! Abnormality of macular pigmentation
property_value: dc:date "2016-11-29T11:37:39Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025148
name: Dark choroid
def: "A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid)." [PMID:27739528, PMID:7248243]
comment: The cause of dark choroid is thought to relate to the deposition of an abnormal material (lipofuscin) in the retinal pigment epithelial cells.
is_a: HP:0000610 ! Abnormal choroid morphology
property_value: dc:date "2016-11-29T11:49:16Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025149
name: Atrophic muscularis propria
def: "Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis." [PMID:18329691]
synonym: "Autonomic visceral myopathy" RELATED []
synonym: "Degenerative enteric myopathy" RELATED []
is_a: HP:0030935 ! Abnormal intestinal smooth muscle morphology
property_value: dc:date "2016-12-03T14:04:10Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025150
name: Hypoganglionosis
def: "Sparse and small myenteric ganglia" []
comment: Enteric ganglia are the nerve cell clusters (groups of nerve cell bodies) that are involved in mediating the muscular activity of the intestines.
is_a: HP:0004362 ! Abnormal enteric ganglion morphology
property_value: dc:date "2016-12-03T14:28:39Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025151
name: Ganglioneuromatosis
def: "Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers." [PMID:26361414]
is_a: HP:0004362 ! Abnormal enteric ganglion morphology
property_value: dc:date "2016-12-03T14:36:23Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025152
name: Poor visual behavior for age
def: "Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behavior fails to meet normal developmental milestones." []
comment: A failure to meet age-related milestones in areas such as (i) focusing ability, (ii) eye coordinationg and tracking of objects in the visual field, (iii) depth perception, (iv) color perception, and (v) object and face recognition. These milestones are generally met in the first three months of life, and failure to meet them may indicate abnormal visual development or function.
synonym: "Abnormal visual behavior for age" EXACT []
synonym: "Abnormal visual behaviour for age" EXACT uk_spelling []
synonym: "Poor visual behavior for age" EXACT []
is_a: HP:0000504 ! Abnormality of vision
property_value: dc:date "2016-12-03T21:34:47Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025153
name: Transient
def: "Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration." []
is_a: HP:0011008 ! Temporal pattern
property_value: dc:date "2016-12-03T22:19:26Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025154
name: Portosystemic collateral veins
def: "Presence of biliary veins that serve as a collateral channel to the systemic circulation" []
comment: Venous blood returning from the small intestine, stomach, pancreas and spleen converges into the portal vein. The terminal branches of the hepatic portal vein and hepatic artery empty together and mix as they enter sinusoids in the liver. Conditions such as liver cirrhosis, in which scar tissue partially blocks the normal flow of blood, may increases the pressure in the portal vein (portal hypertension).When blood flow through a vessel or a vascular bed is obstructed due to occlusion, collateral pathways open up as blood bypasses the occlusion or obstruction, and this can lead to portosystemic collateral veins in the case of cirrhosis and some other hepatobiliary diseases.
synonym: "Collateral biliary circulation" EXACT []
synonym: "Collateral biliary veins" EXACT []
is_a: HP:0012440 ! Abnormal biliary tract morphology
property_value: dc:date "2016-12-03T22:24:40Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025155
name: Abnormal hepatobiliary system physiology
def: "A functional anomaly of the hepatobiliary system" []
is_a: HP:0025032 ! Abnormality of digestive system physiology
property_value: dc:date "2016-12-04T12:05:04Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025156
name: Dependency on intravenous nutrition
def: "Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status." [PMID:16770168]
comment: Total parenteral nutrition (TPN) refers to the application of an intravenous nutritional solution in individuals with gastrointestinal disorders that prevent them from absorbing a sufficient amount of nutrients from the gut to maintain health. The solution contains protein, carbohydrates (in the form of glucose), glucose, fat, vitamins, and minerals. Dependency on TPN is essentially a manifestation of the continued severity of a gastrointestinal disorder.
synonym: "Dependency on IV nutrition" EXACT abbreviation []
is_a: HP:0025032 ! Abnormality of digestive system physiology
property_value: dc:date "2016-12-04T12:14:59Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025157
name: Increased urinary sedoheptulose
def: "An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group." []
is_a: HP:0031979 ! Abnormal urine carbohydrate level
property_value: dc:date "2016-12-04T12:36:02Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025158
name: Hyperautofluorescent retinal lesion
def: "Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging." []
synonym: "Retinal lipofuscin accumulation" RELATED []
is_a: HP:0030602 ! Abnormal fundus autofluorescence imaging
property_value: dc:date "2016-12-04T12:53:55Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025159
name: Hypoautofluorescent retinal lesion
def: "Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging." []
synonym: "Hypo-autofluorescent retinal lesion" EXACT []
is_a: HP:0030602 ! Abnormal fundus autofluorescence imaging
property_value: dc:date "2016-12-04T12:54:44Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025160
name: Abnormal temper tantrums
def: "Temper tantrums are brief episodes of extreme, unpleasant, and sometimes aggressive behaviors in response to frustration or anger, which are a normal part of development in toddlers. Temper tantrums that occur more frequently in a given time and/or are more severe in symptomatology and/or longer in duration and/or inappropriate for the given age compared to a temper tantrum that naturally occurs as a part of the developmental process are classified as abnormal temper tantrums." []
is_a: HP:5200241 ! Recurrent maladaptive behavior
property_value: dc:date "2016-12-04T12:59:10Z" xsd:dateTime
property_value: terms:contributor https://orcid.org/0000-0002-1111-7357
property_value: terms:contributor https://orcid.org/0000-0002-7954-5235
property_value: terms:contributor https://orcid.org/0000-0003-2897-0458
property_value: terms:contributor https://orcid.org/0000-0003-4298-5074
property_value: terms:contributor https://orcid.org/0000-0003-4618-6544
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025161
name: Frequent temper tantrums
def: "Temper tantrums that occur more frequently compared to the temper tantrums that are a part of the normal developmental process." []
is_a: HP:0025160 ! Abnormal temper tantrums
property_value: dc:date "2016-12-04T13:05:18Z" xsd:dateTime
property_value: terms:contributor https://orcid.org/0000-0002-1111-7357
property_value: terms:contributor https://orcid.org/0000-0002-7954-5235
property_value: terms:contributor https://orcid.org/0000-0003-2897-0458
property_value: terms:contributor https://orcid.org/0000-0003-4298-5074
property_value: terms:contributor https://orcid.org/0000-0003-4618-6544
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025162
name: Severe temper tantrums
def: "Temper tantrums, which occur with more severe symptomatology compared to a temper tantrum that occurs as a part of normal developmental process." []
is_a: HP:0025160 ! Abnormal temper tantrums
property_value: dc:date "2016-12-04T13:05:46Z" xsd:dateTime
property_value: terms:contributor https://orcid.org/0000-0002-1111-7357
property_value: terms:contributor https://orcid.org/0000-0002-7954-5235
property_value: terms:contributor https://orcid.org/0000-0003-2897-0458
property_value: terms:contributor https://orcid.org/0000-0003-4298-5074
property_value: terms:contributor https://orcid.org/0000-0003-4618-6544
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025163
name: Abnormal optic chiasm morphology
def: "A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves." []
synonym: "Abnormality of optic chiasm morphology" EXACT []
is_a: HP:0000587 ! Abnormal optic nerve morphology
property_value: dc:date "2016-12-04T13:12:19Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025164
name: Increased number of elastic fibers in the dermis
def: "An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods." [PMID:25072684]
synonym: "Increased number of elastic fibres in the dermis" EXACT uk_spelling []
is_a: HP:0025082 ! Abnormal cutaneous elastic fiber morphology
property_value: dc:date "2016-12-04T13:43:21Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025165
name: Clumping of elastic fibers in the dermis
def: "Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis)." [PMID:25072684]
synonym: "Clumping of elastic fibres in the dermis" EXACT uk_spelling []
is_a: HP:0025082 ! Abnormal cutaneous elastic fiber morphology
property_value: dc:date "2016-12-04T13:50:37Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025166
name: Thickened elastic fibers in the dermis
def: "An increase of the diameter of elastic fibers in the dermis." []
synonym: "Thickened elastic fibres in the dermis" EXACT uk_spelling []
is_a: HP:0025082 ! Abnormal cutaneous elastic fiber morphology
property_value: dc:date "2016-12-04T13:54:31Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025167
name: Fragmented elastic fibers in the dermis
def: "Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers." []
synonym: "Fragmented elastic fibres in the dermis" EXACT uk_spelling []
is_a: HP:0025082 ! Abnormal cutaneous elastic fiber morphology
property_value: dc:date "2016-12-04T13:56:23Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025168
name: Left ventricular diastolic dysfunction
def: "Abnormal function of the left ventricule during left ventricular relaxation and filling." [PMID:12527689, PMID:14594874]
comment: Diastolic left ventricular disease can cause of limitation of exercise tolerance, whether or not ejection fraction is normal. This feature can be assessed by cardiac imaging.
is_a: HP:0005162 ! Abnormal left ventricular function
property_value: dc:date "2016-12-04T14:01:20Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025169
name: Left ventricular systolic dysfunction
def: "Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent." []
is_a: HP:0005162 ! Abnormal left ventricular function
property_value: dc:date "2016-12-04T14:07:53Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025170
name: Neuronal/glioneuronal neoplasm of the central nervous system
def: "A central nervous system neoplasm with neuronal and, less consistently, glial differentiation." []
synonym: "Glioneuronal tumor" EXACT []
synonym: "Glioneuronal tumour" EXACT uk_spelling []
synonym: "Neuronal and mixed neuronal-glial tumor" EXACT []
synonym: "Neuronal and mixed neuronal-glial tumour" EXACT uk_spelling []
synonym: "Neuronal/glioneuronal neoplasm of the CNS" EXACT abbreviation []
is_a: HP:0030063 ! Neuroepithelial neoplasm
is_a: HP:0100006 ! Neoplasm of the central nervous system
property_value: dc:date "2016-12-04T14:30:29Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025171
name: Rosette-forming glioneuronal tumor
def: "A tumor of the central nervous system that has components of both neurocytic and glial areas, whereby usually the glial component of the tumor predominates. Rossette-forming glioneuronal tumors (RGNT) have biphasic cytoarchitecture with two elements; neurocytic rosettes resembling Homer-Wright rosettes, and astrocytic component resembling a pilocytic astrocytoma. RGNTs are low-grade tumors that lack histopathological signs of malignancy." [PMID:27179225]
synonym: "Rosette-forming glioneuronal neoplasm" EXACT []
synonym: "Rosette-forming glioneuronal tumor" EXACT []
synonym: "Rosette-forming glioneuronal tumor of the fourth ventricle" RELATED []
synonym: "Rosette-forming glioneuronal tumour of the fourth ventricle" RELATED uk_spelling []
is_a: HP:0025170 ! Neuronal/glioneuronal neoplasm of the central nervous system
property_value: dc:date "2016-12-04T14:35:51Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025172
name: Smooth septal thickening on pulmonary HRCT
def: "Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a smooth appearance of the interlobular septa." []
is_a: HP:0030879 ! Interlobular septal thickening
property_value: dc:date "2016-12-04T19:28:49Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025173
name: Nodular septal thickening on pulmonary HRCT
def: "Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa." []
is_a: HP:0030879 ! Interlobular septal thickening
property_value: dc:date "2016-12-04T19:30:08Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025174
name: Irregular septal thickening on pulmonary HRCT
def: "Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture." []
is_a: HP:0030879 ! Interlobular septal thickening
property_value: dc:date "2016-12-04T19:31:03Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025175
name: Honeycomb lung
def: "Honeycombing represents destroyed and fibrotic lung tissue containing numerous cystic airspaces with thick fibrous walls, representing the late stage of various lung diseases, with complete loss of acinar architecture. The cysts range in size from a few millimeters to several centimeters in diameter, have variable wall thickness, and are lined by metaplastic bronchiolar epithelium. On chest radiographs, honeycombing appears as closely approximated ring shadows, typically 3-10 mm in diameter with walls 1-3 mm in thickness, that resemble a honeycomb; the finding implies end-stage lung disease. On CT scans, the appearance is of clustered cystic air spaces, typically of comparable diameters on the order of 3-10 mm but occasionally as large as 2.5 cm. Honeycombing is usually subpleural and is characterized by well-defined walls. It is a CT feature of established pulmonary fibrosis. Because honeycombing is often considered specific for pulmonary fibrosis and is an important criterion in the diagnosis of usual interstitial pneumonia, the term should be used with care, as it may directly impact patient care." [PMID:18195376]
comment: Pathologically, honeycombing is manifested as small air-containing cystic spaces that are lined by bronchiolar epithelium and have thickened walls of dense fibrous tissue. On high-resolution CT, honeycombing presents with a characteristic cystic appearance. The cystic spaces range from 3 mm to 1 cm in diameter, although they can be larger. The cystic spaces are characterized by well delineated walls 1 to 3 mm in thickness. The cysts are air-filled and appear lucent in comparison to normal lung parenchyma. Honeycombing is a manifestation of end-stage lung fibrosis.
synonym: "Honeycomb cysts" EXACT []
synonym: "Honeycombing" EXACT []
is_a: HP:0005948 ! Multiple pulmonary cysts
is_a: HP:0006530 ! Abnormal pulmonary interstitial morphology
property_value: dc:date "2016-12-04T19:34:18Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025176
name: Intralobular interstitial thickening
def: "A fine reticular pattern on high-resolution computed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance." []
is_a: HP:0006530 ! Abnormal pulmonary interstitial morphology
property_value: dc:date "2016-12-04T19:39:14Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025177
name: Peribronchovascular interstitial thickening
def: "Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography." []
is_a: HP:0006530 ! Abnormal pulmonary interstitial morphology
property_value: dc:date "2016-12-04T19:41:52Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025178
name: Subpleural interstitial thickening
def: "Increase in thickness of the subpleural interstitium." []
comment: Subpleural interstitial thickening can be difficult to recognize where the lung contacts the chest wall or mediastinum but is easy to delineate adjacent to the major fissure. Thickening of the fissure visible on high-resolution computer tomography may represent subpleural interstitial thickening.
synonym: "Subpleural scarring" EXACT []
is_a: HP:0031630 ! Abnormal subpleural morphology
property_value: dc:date "2016-12-04T19:44:43Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025179
name: Ground-glass opacification
def: "On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured." [PMID:18195376, PMID:23247773]
comment: Ground-glass opacification is a non-specific sign and can be observed with many conditions including infection, chronic interstitial disease and acute alveolar disease. See Figure 2 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722.
synonym: "GGO" EXACT abbreviation []
synonym: "Ground glass opacities" EXACT []
synonym: "Ground-glass opacification on pulmonary HRCT" NARROW []
is_a: HP:0031457 ! Pulmonary opacity
property_value: dc:date "2016-12-04T19:55:32Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025180
name: Centrilobular ground-glass opacification on pulmonary HRCT
def: "A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules." []
synonym: "Centrilobular groundglass opacification" EXACT []
synonym: "Centrilobular groundglass opacity" EXACT []
is_a: HP:0025179 ! Ground-glass opacification
property_value: dc:date "2016-12-04T19:57:32Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025181
name: Abdominal aseptic abscess
def: "An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently." [PMID:22526827]
is_a: HP:0001438 ! Abnormal abdomen morphology
property_value: dc:date "2016-12-04T20:11:28Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025182
name: Localized area of pendulous skin
def: "A confined region of lax skin that hangs below the level of the surrounding skin. Histopatholigically, there is a loss of elastic fibers in the dermis of the affected region." []
synonym: "Localised area of pendulous skin" EXACT uk_spelling []
is_a: HP:0008067 ! Abnormally lax or hyperextensible skin
property_value: dc:date "2016-12-04T21:29:56Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025186
name: Marcus Gunn jaw winking synkinesis
def: "Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva maneuver and even by breathing." [PMID:23345532, PMID:25754805]
synonym: "Marcus Gunn jaw-winking syndrome" EXACT []
synonym: "Pterygoid-levator synkinesis" EXACT []
synonym: "Trigemino-oculomotor synkinesis" EXACT []
is_a: HP:0000496 ! Abnormality of eye movement
property_value: dc:date "2016-12-04T22:17:24Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025188
name: Retinal vasculitis
def: "Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion." []
comment: This term refers to the appearance of the retinal vessels on fundoscopy or other investigations. Retinal vasculitis may be associated with other manifestations such as visual impairment.
is_a: HP:0008046 ! Abnormal retinal vascular morphology
property_value: dc:date "2016-12-04T22:37:03Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025190
name: Bilateral tonic-clonic seizure with generalized onset
def: "A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure." [PMID:20196795, PMID:28276060, PMID:28276064, PMID:6790275]
synonym: "Bilateral tonic-clonic seizure with generalised onset" EXACT uk_spelling []
synonym: "Generalised tonic-clonic seizure without focal onset" EXACT []
synonym: "Generalised tonic-clonic seizure without partial onset" EXACT []
synonym: "Generalised tonic-clonic seizures without focal onset" EXACT []
synonym: "Generalised-onset tonic-clonic seizure" EXACT []
synonym: "Generalized tonic-clonic seizure without focal onset" EXACT []
synonym: "Generalized tonic-clonic seizure without partial onset" EXACT []
synonym: "Generalized tonic-clonic seizures without focal onset" EXACT []
synonym: "Generalized-onset tonic-clonic seizure" EXACT []
synonym: "Primarily generalised tonic-clonic seizures" EXACT uk_spelling []
synonym: "Primarily generalized tonic-clonic seizures" EXACT []
synonym: "Primary generalised tonic-clonic seizure" EXACT uk_spelling []
synonym: "Primary generalised tonic-clonic seizures" EXACT uk_spelling []
synonym: "Primary generalized tonic-clonic seizure" EXACT []
synonym: "Primary generalized tonic-clonic seizures" EXACT []
is_a: HP:0002069 ! Bilateral tonic-clonic seizure
is_a: HP:0032677 ! Generalized-onset motor seizure
property_value: dc:date "2016-12-04T22:50:21Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025191
name: obsolete Segmental myoclonic seizures
property_value: dc:date "2016-12-04T23:02:24Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
is_obsolete: true
replaced_by: HP:0011166

[Term]
id: HP:0025192
name: Subtentorial periventricular white matter hyperdensity
def: "Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum)." []
is_a: HP:0030891 ! Periventricular white matter hyperintensities
property_value: dc:date "2016-12-04T23:09:22Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025193
name: Posterolateral diaphragmatic hernia
def: "A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity." []
synonym: "Bochdalek hernia" EXACT []
is_a: HP:0000776 ! Congenital diaphragmatic hernia
property_value: dc:date "2016-12-05T01:51:30Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025194
name: Morgagni diaphragmatic hernia
def: "An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity." []
comment: Morgagni hernias are generally accompanied by a hernia sac, and often do not cause symptoms in the newborn period.
synonym: "Morgagni hernia" EXACT []
is_a: HP:0000776 ! Congenital diaphragmatic hernia
property_value: dc:date "2016-12-05T01:55:27Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025195
name: Central diaphragmatic hernia
def: "A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present." []
synonym: "Central hernia" EXACT []
is_a: HP:0000776 ! Congenital diaphragmatic hernia
property_value: dc:date "2016-12-05T01:57:20Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025196
name: Increased total iron binding capacity
def: "An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity." [PMID:3542299]
comment: Iron is transported to body tissues by a protein, transferrin, in plasma. This protein has two high-affinity binding sites for iron. Determination of total iron-binding capacity (TIBC) of the plasma therefore gives a measure of transferrin, although it can also be directly determined. Virtually all plasma iron (P1) normally is bound to transferrin, and measurement of P1 is assumed to reflect the amount of transferrin iron. The expression transferrin saturation, expressed as percent [(P1/TIBC) x 100], indicates the availability of iron to tissues. As transferrin saturation increases, there is an increase in the amount of diferric transferrin, which has a greater capacity to deliver iron than does monoferric transferrin. Measurements of P1, TIBC, and transferrin saturation have served several purposes in clinical medicine. The P1 concentration and (particularly) transferrin saturation relect the adequacy of iron supply. A saturation of less than 16% indicates a deficient iron supply, whereas a saturation of over 60% as measured on more than one occasion represents excessive iron loading owing to increased iron absorption or liver disease. An increased transferrmn concentration as reflected in the TIBC indicates iron depletion if the effects of estrogen and pregnancyare excluded. Other characteristic changes inboth P1 and TIBC are useful in the differential diagnosis of various diseases, for example, the decrease in transferrin saturations associated with a decreased transferrin concentration in inflammatory states.
is_a: HP:0033212 ! Abnormal total iron binding capacity
property_value: dc:date "2016-12-05T02:10:17Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025197
name: Inclusion body fibromatosis
def: "A benign tumor made up of mostly myofibroblasts that appears almost exclusively on the digits of the hands and feet, rarely involving the thumb or big toe. The lesion displays a proliferation of bland intradermal spindle cells arranged in whorls, fascicles, or a storiform pattern in a collagenous background of varying degrees. Also usually present are perpendicular tumor cell fascicles that extend to the epidermis. The small intracytoplasmic inclusions are said to appear similar to red blood cells. The inclusion bodies have been shown to be made up of densely packed vimentin and actin filaments. The tumor often causes a dome-shaped elevation of the overlying structures, forming a protuberant or polypoid nodule. The overlying epidermis can display a host of changes, including acanthosis, hyperkeratosis, parakeratosis, rete ridge flattening, entrapment of adnexal structures, and, rarely, ulceration." [NCIT:C3456, PMID:27684985]
synonym: "Digital fibrous tumor of Reye" EXACT []
synonym: "Digital fibrous tumour of Reye" EXACT uk_spelling []
synonym: "Infantile digital fibroma" EXACT []
synonym: "Infantile digital fibromatosis" EXACT []
is_a: HP:0012316 ! Fibrous tissue neoplasm
property_value: dc:date "2016-12-05T11:28:28Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025198
name: Inflammatory cap polyp
def: "A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp." []
comment: The condition inflammatory cap polyposis is characterized by the presence of multiple inflammatory cap polyps in the large intestine.
is_a: HP:0005266 ! Intestinal polyp
property_value: dc:date "2016-12-05T11:49:57Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025200
name: Muscle fiber actin filament accumulation
def: "Accumulation in muscle cells of filaments composed of actin." []
synonym: "Muscle fibre actin filament accumulation" EXACT uk_spelling []
is_a: HP:0100299 ! Muscle fiber inclusion bodies
property_value: dc:date "2016-12-06T03:05:47Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025201
name: Abnormal circulating apolipoprotein concentration
def: "A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation." []
synonym: "Abnormal apolipoprotein level" EXACT []
is_a: HP:0010876 ! Abnormal circulating protein concentration
property_value: dc:date "2016-12-10T12:53:01Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025202
name: Elevated circulating apolipoprotein A-IV concentration
def: "An increased concentration in blood of apolipoprotein A-IV, a major component of HDL and chylomicrons that has a role in VLDL secretion and catabolism and is required for efficient activation of lipoprotein lipase by ApoC-II." []
synonym: "Elevated apolipoprotein A-IV level" EXACT []
is_a: HP:0033460 ! Increased circulating apolipoprotein circulation
property_value: dc:date "2016-12-10T12:56:05Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025203
name: Caput medusae
def: "Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins." [PMID:26112857]
comment: Caput medusae is a sign of severe portal hypertension with portal-systemic shunting through the umbilical veins. The name refers to Medusa's hair once Minerva had turned it into snakes. Caput Medusae can be distinguished from inferior vena cava obstruction by determining the direction of flow in the veins below the umbilicus; it is towards the legs in caput medusae, and towards the head with inferior vena cava obstruction. See figure 2 in PMID: 29089832.
synonym: "Palm tree sign" EXACT []
is_a: HP:0030168 ! Dilated superficial abdominal veins
property_value: dc:date "2016-12-10T13:11:24Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025204
name: Triggered by
def: "A trigger is defined as an external factor that leads to the manifestation of a sign or symptom in a person with a susceptibility to developing that manifestation." []
is_a: HP:0012823 ! Clinical modifier
property_value: dc:date "2016-12-10T13:33:36Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025205
name: Triggered by breast feeding
def: "Applies to a sign or symptom that is provoked or brought about by breast feeding in an infant." []
synonym: "Breastfeeding triggered symptoms" EXACT []
synonym: "Triggered by breastfeeding" EXACT layperson []
is_a: HP:0033793 ! Triggered by food ingestion
property_value: dc:date "2016-12-10T13:41:09Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025206
name: Triggered by cold
def: "Applies to a sign or symptom that is provoked or brought about by exposure to cold surroundings." []
synonym: "Cold triggered symptoms" EXACT []
synonym: "Triggered by cold temperature" EXACT layperson []
is_a: HP:0025204 ! Triggered by
property_value: dc:date "2016-12-10T13:44:40Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025207
name: Triggered by dehydration
def: "Applies to a sign or symptom that is provoked or brought about by being dehydrated, i.e., by a deficit in total body water." []
synonym: "Dehydration triggered symptoms" EXACT []
synonym: "Triggered by dehydration" EXACT layperson []
is_a: HP:0025204 ! Triggered by
property_value: dc:date "2016-12-10T13:45:29Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025208
name: Triggered by carbohydrate ingestion
def: "Applies to a sign or symptom that is provoked or brought about by eating or drinking carbohydrates." []
synonym: "Carbohydrate ingestion triggered symptoms" EXACT []
synonym: "Triggered by carbohydrate ingestion" EXACT layperson []
is_a: HP:0033793 ! Triggered by food ingestion
property_value: dc:date "2016-12-10T13:46:32Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025209
name: Triggered by fructose ingestion
def: "Applies to a sign or symptom that is provoked or brought about by eating or drinking fructose." []
synonym: "Triggered by fruit sugar" EXACT layperson []
is_a: HP:0025208 ! Triggered by carbohydrate ingestion
property_value: dc:date "2016-12-10T13:48:19Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025210
name: Triggered by glucose ingestion
def: "Applies to a sign or symptom that is provoked or brought about by eating or drinking glucose." []
is_a: HP:0025208 ! Triggered by carbohydrate ingestion
property_value: dc:date "2016-12-10T13:48:59Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025211
name: Triggered by ethanol ingestion
def: "Applies to a sign or symptom that is provoked or brought about by drinking or otherwise ingesting ethanol." []
synonym: "Ethanol ingestion triggered symptoms" EXACT []
synonym: "Triggered by alcohol ingestion" BROAD layperson []
is_a: HP:0033793 ! Triggered by food ingestion
property_value: dc:date "2016-12-10T13:50:14Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025212
name: Triggered by fasting
def: "Applies to a sign or symptom that is provoked or brought about by abstaining from eating food (fasting)." []
synonym: "Fasting triggered attacks" EXACT []
synonym: "Fasting triggered symptoms" EXACT []
synonym: "Triggered by fasting" EXACT layperson []
is_a: HP:0025204 ! Triggered by
property_value: dc:date "2016-12-10T13:50:53Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025213
name: Triggered by galactose ingestion
def: "Applies to a sign or symptom that is provoked or brought about by eating or drinking galactose. Galactose usually is ingested as lactose, which is composed of equimolar amounts of glucose and galactose." []
synonym: "Triggered by ingestion of lactose-containing milk" EXACT layperson []
is_a: HP:0025208 ! Triggered by carbohydrate ingestion
property_value: dc:date "2016-12-10T13:51:49Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025214
name: Triggered by heat
def: "Applies to a sign or symptom that is provoked or brought about by exposure to heat." []
synonym: "Heat triggered symptoms" EXACT []
synonym: "Triggered by heat" EXACT layperson []
is_a: HP:0025204 ! Triggered by
property_value: dc:date "2016-12-10T13:59:21Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025215
name: Triggered by febrile illness
def: "Applies to a sign or symptom that is provoked or brought about by febrile illness." []
synonym: "Febrile illness triggered symptoms" EXACT []
synonym: "Triggered by fever" EXACT layperson []
is_a: HP:0025204 ! Triggered by
property_value: dc:date "2016-12-10T14:00:39Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025216
name: Triggered by heavy meal
def: "Applies to a sign or symptom that is provoked or brought about by eating large quantities of food, for instance, by a heavy meal." []
synonym: "Heavy meal triggered symptoms" EXACT []
synonym: "Triggered by overeating" EXACT layperson []
is_a: HP:0033793 ! Triggered by food ingestion
property_value: dc:date "2016-12-10T14:01:22Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025217
name: Triggered by high-fat diet
def: "Applies to a sign or symptom that is provoked or brought about by eating a diet high in lipids." []
synonym: "High-fat diet triggered symptoms" EXACT []
synonym: "Triggered by high-fat diet" EXACT layperson []
is_a: HP:0033793 ! Triggered by food ingestion
property_value: dc:date "2016-12-10T14:02:17Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025218
name: Triggered by hyperventilation
def: "Applies to a sign or symptom that is provoked or brought about by excessively rapid and deep breathing." []
synonym: "Hyperventilation triggered symptoms" EXACT []
synonym: "Triggered by hyperventilation" EXACT layperson []
is_a: HP:0025204 ! Triggered by
property_value: dc:date "2016-12-10T14:02:50Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025219
name: Triggered by vaccination
def: "Applies to a sign or symptom that is provoked or brought about by a vaccination." [PMID:26633955]
synonym: "Triggered by immunisation" EXACT uk_spelling []
synonym: "Triggered by immunization" EXACT []
synonym: "Triggered by vaccination" EXACT layperson []
synonym: "Vaccination triggered symptoms" EXACT []
is_a: HP:0025204 ! Triggered by
property_value: dc:date "2016-12-10T14:04:16Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025220
name: Triggered by menstruation
def: "Applies to a sign or symptom that is provoked or brought about by menstruation in a female." []
synonym: "Menstruation triggered symptoms" EXACT []
synonym: "Triggered by monthly period" EXACT layperson []
synonym: "Triggered by period" EXACT layperson []
is_a: HP:0025204 ! Triggered by
property_value: dc:date "2016-12-10T14:05:58Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025221
name: Triggered by pregnancy
def: "Applies to a sign or symptom that is provoked or brought about by pregnancy in a female." []
synonym: "Pregnancy triggered symptoms" EXACT []
synonym: "Triggered by pregnancy" EXACT layperson []
is_a: HP:0025204 ! Triggered by
property_value: dc:date "2016-12-10T14:06:54Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025222
name: Triggered by sleep deprivation
def: "Applies to a sign or symptom that is provoked or brought about by a lack of sufficient sleep." []
synonym: "Sleep deprivation triggered symptoms" EXACT []
synonym: "Triggered by sleep deprivation" EXACT layperson []
is_a: HP:0025204 ! Triggered by
property_value: dc:date "2016-12-10T14:07:29Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025223
name: Triggered by smoking
def: "Applies to a sign or symptom that is provoked or brought about by smoking." []
synonym: "Smoking triggered symptoms" EXACT []
synonym: "Triggered by cigarette consumption" EXACT layperson []
synonym: "Triggered by smoking" EXACT layperson []
synonym: "Triggered by tobacco use" EXACT layperson []
is_a: HP:0025204 ! Triggered by
property_value: dc:date "2016-12-10T14:07:58Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025224
name: Triggered by sodium ingestion
def: "Applies to a sign or symptom that is provoked or brought about by eating or drinking sodium." []
synonym: "Sodium ingestion triggered symptoms" EXACT []
synonym: "Sodium intake triggered attacks" EXACT []
synonym: "Triggered by Na ingestion" EXACT abbreviation []
synonym: "Triggered by Na+ ingestion" EXACT abbreviation []
synonym: "Triggered by salt ingestion" NARROW layperson []
synonym: "Triggered by sodium intake" EXACT []
is_a: HP:0033793 ! Triggered by food ingestion
property_value: dc:date "2016-12-10T14:08:50Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025225
name: Triggered by sound
def: "Applies to a sign or symptom that is provoked or brought about by exposure to sound or noise." []
comment: For instance, seizures associated with autosomal dominant partial epilepsy with auditory features may be triggered by certain sounds such as telephone ringing or speech.
synonym: "Sound triggered symptoms" EXACT []
synonym: "Triggered by sound" EXACT layperson []
is_a: HP:0025204 ! Triggered by
property_value: dc:date "2016-12-10T14:09:30Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025226
name: Triggered by stress
def: "Applies to a sign or symptom that is provoked or brought about by a physical, mental, or emotional factor associated with bodily or mental tension." []
synonym: "Stress triggered symptoms" EXACT []
synonym: "Triggered by stress" EXACT layperson []
is_a: HP:0025204 ! Triggered by
property_value: dc:date "2016-12-10T14:24:37Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025227
name: Triggered by excitement
def: "Applies to a sign or symptom that is provoked or brought about by a a state of excitement or by being startled." []
synonym: "Excitement triggered symptoms" EXACT []
synonym: "Triggered by excitement" EXACT layperson []
synonym: "Triggered by startle" RELATED []
is_a: HP:0025204 ! Triggered by
property_value: dc:date "2016-12-10T14:28:21Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025228
name: Triggered by sudden movement
def: "Applies to a sign or symptom that is provoked or brought about by a sudden movement." []
synonym: "Kinesigenic" EXACT []
synonym: "Sudden movement triggered symptoms" EXACT []
synonym: "Triggered by sudden movement" EXACT layperson []
is_a: HP:0025204 ! Triggered by
property_value: dc:date "2016-12-10T14:29:50Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025229
name: Triggered by vestibular stimulation
def: "Applies to a sign or symptom that is provoked or brought about by vestibular stimulation, including head turning, cold calorics, postural changes, or rotating chair." []
synonym: "Vestibular stimulation triggered attacks" EXACT []
synonym: "Vestibular stimulation triggered symptoms" EXACT []
is_a: HP:0025204 ! Triggered by
property_value: dc:date "2016-12-10T14:30:38Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025230
name: Tendonitis
def: "Inflammation of a tendon." []
synonym: "Teninitis" EXACT []
is_a: HP:0100261 ! Abnormal tendon morphology
property_value: dc:date "2016-12-14T11:20:22Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025231
name: Abnormal synovial bursa morphology
def: "A structural anomaly of a synovial bursa, which is a synovium-lined, sac-like structure found throughout the body near bony prominences and between bones, muscles, tendons, and ligaments. The bursa itself is a synovial lining that represents a potential space insofar as it is collapsed upon itself until a resulting trigger causes the bursa to become irritated and fill with synovial fluid." [PMID:30020712]
comment: A synovial bursa is a small fluid-filled saclike cavity that facilitates the gliding of muscles or tendons over bony or ligamentous surfaces. There are numerous synovial bursae in the body, for instance at the shoulder, elbow, knee, and hip. We include abnormal synovial fluid findings (which are generally assessed by bursa aspiration) in this subhierarchy. A synovial bursa contains bursa fluid, which is essentially a synovial-like fluid produced by the synovial lining of the bursa.
synonym: "Abnormality of synovial bursa morphology" EXACT []
is_a: HP:0001367 ! Abnormal joint morphology
property_value: dc:date "2016-12-14T11:29:35Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025232
name: Bursitis
def: "Inflammation of a synovial bursa." []
is_a: HP:0025231 ! Abnormal synovial bursa morphology
property_value: dc:date "2016-12-14T11:33:51Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025233
name: Sleep paralysis
def: "An inability to move the body at the onset of sleep or upon awakening from sleep, lasting for seconds to a few minutes." [PMID:32965993]
synonym: "Inability to move or speak" EXACT []
is_a: HP:5200293 ! Disturbance during transitions between sleep and wake states
is_a: HP:5200299 ! REM parasomnia
is_a: HP:5200300 ! Abnormal movement during sleep
property_value: dc:date "2016-12-14T11:44:36Z" xsd:dateTime
property_value: terms:contributor https://orcid.org/0000-0001-6262-8264
property_value: terms:contributor https://orcid.org/0000-0001-9446-5121
property_value: terms:contributor https://orcid.org/0000-0002-1592-0825
property_value: terms:contributor https://orcid.org/0000-0002-4672-4923
property_value: terms:contributor https://orcid.org/0000-0002-5554-6946
property_value: terms:contributor https://orcid.org/0000-0002-7367-663X
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025234
name: Parasomnia
def: "An undesirable physical event or experience that occurs during the process of falling asleep, while asleep, or when waking up from sleep." [PMID:35956054]
synonym: "Event that disrupts sleep" EXACT []
is_a: HP:0002360 ! Sleep abnormality
property_value: dc:date "2016-12-14T11:50:48Z" xsd:dateTime
property_value: terms:contributor https://orcid.org/0000-0001-6262-8264
property_value: terms:contributor https://orcid.org/0000-0001-9446-5121
property_value: terms:contributor https://orcid.org/0000-0002-1592-0825
property_value: terms:contributor https://orcid.org/0000-0002-4672-4923
property_value: terms:contributor https://orcid.org/0000-0002-5554-6946
property_value: terms:contributor https://orcid.org/0000-0002-7367-663X
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025235
name: NREM parasomnia
def: "A parasomnia that occurs during non-rapid eye movement (NREM) sleep." [PMID:31375204]
comment: NREM parasomnias typically occur within a few hours after the onset of sleep. Episodes can last from a few minutes to as long as 30-40 minutes and are characterized by amnesia for the event.
synonym: "Disturbance in NREM" EXACT []
synonym: "Non-rapid eye movement parasomnia" EXACT []
synonym: "NREM parasomnia" EXACT []
is_a: HP:0025234 ! Parasomnia
property_value: dc:date "2016-12-14T11:55:11Z" xsd:dateTime
property_value: terms:contributor https://orcid.org/0000-0001-6262-8264
property_value: terms:contributor https://orcid.org/0000-0001-9446-5121
property_value: terms:contributor https://orcid.org/0000-0002-1592-0825
property_value: terms:contributor https://orcid.org/0000-0002-4672-4923
property_value: terms:contributor https://orcid.org/0000-0002-5554-6946
property_value: terms:contributor https://orcid.org/0000-0002-7367-663X
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025236
name: Somnambulism
def: "Ambulation or other complex motor behaviors may occur after getting out of bed in a sleep-like state. During sleepwalking episodes, the individual who is somnambulating appears confused or dazed, with their eyes usually open. They may mumble or give inappropriate answers to questions, and occasionally appear agitated." [PMID:30458142, PMID:32644427]
comment: During an episode of sleepwalking, the somnambulating child typically appears clumsy and might perform unusual actions, such as urinating in a closet. Injuries can occur during sleepwalking, including falling downstairs or when leaving the house.
synonym: "Sleep walking" EXACT layperson [https://orcid.org/0000-0002-0736-9199]
is_a: HP:0025235 ! NREM parasomnia
is_a: HP:5200300 ! Abnormal movement during sleep
property_value: dc:date "2016-12-14T12:01:00Z" xsd:dateTime
property_value: terms:contributor https://orcid.org/0000-0001-6262-8264
property_value: terms:contributor https://orcid.org/0000-0001-9446-5121
property_value: terms:contributor https://orcid.org/0000-0002-1592-0825
property_value: terms:contributor https://orcid.org/0000-0002-4672-4923
property_value: terms:contributor https://orcid.org/0000-0002-5554-6946
property_value: terms:contributor https://orcid.org/0000-0002-7367-663X
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025237
name: Confusional arousal
def: "A nocturnal episode is characterized by disorientation, grogginess, and, at times, significant agitation upon awakening from slow-wave sleep or following forced awakenings." [PMID:35985125]
comment: These characteristics might present as agitation, crying, or moaning, disorientation, and particularly slow mentation upon arousal from sleep (i.e., sleep inertia). The duration of episodes is typically 5 to 15 minutes, but they might last up to several hours.
synonym: "Disoriented" EXACT []
synonym: "Slow speech or confused thinking upon waking" EXACT []
synonym: "Unresponsive" EXACT []
is_a: HP:5200297 ! Abnormal hypnopompia
property_value: dc:date "2016-12-14T12:07:36Z" xsd:dateTime
property_value: terms:contributor https://orcid.org/0000-0001-6262-8264
property_value: terms:contributor https://orcid.org/0000-0001-9446-5121
property_value: terms:contributor https://orcid.org/0000-0002-1592-0825
property_value: terms:contributor https://orcid.org/0000-0002-4672-4923
property_value: terms:contributor https://orcid.org/0000-0002-5554-6946
property_value: terms:contributor https://orcid.org/0000-0002-7367-663X
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025238
name: Foot pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot." []
synonym: "Foot pain" EXACT layperson []
is_a: HP:0012514 ! Lower limb pain
property_value: dc:date "2016-12-16T11:55:08Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025239
name: Subhyaloid hemorrhage
def: "A localized detachment of the vitreous from the retina due to the accumulation of blood. When localized in the macular area, it results in sudden profound loss of vision. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area." [PMID:27090882]
comment: Clinically speaking, distinguishing between preretinal and subhyaloid hemorrhages is difficult. Therefore, clinicians use the terms inter-changeably. A D-shaped or boat-shaped appearance may be observed, because the blood accumulates within loosely adherent tissue of the superficial retina and can spread and settle inferiorly with gravity. A sharp demarcation line is usually evident.
synonym: "Subhyaloid haemorrhage" EXACT uk_spelling []
synonym: "Subhyaloid heme" EXACT []
is_a: HP:0025240 ! Preretinal hemorrhage
property_value: dc:date "2016-12-17T00:34:43Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025240
name: Preretinal hemorrhage
def: "An accumulation of blood between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation." [https://orcid.org/0000-0003-0986-4123]
comment: Clinically speaking, distinguishing between preretinal and subhyaloid hemorrhages is difficult. Therefore, clinicians often use the terms interchangeably. A D-shaped or boat-shaped appearance may be observed, because the blood accumulates within loosely adherent tissue of the superficial retina and can spread and settle inferiorly with gravity. A sharp demarcation line is usually evident.
synonym: "Preretinal haemorrhage" EXACT uk_spelling []
synonym: "Preretinal heme" EXACT []
is_a: HP:0031803 ! Fundus hemorrhage
property_value: dc:date "2016-12-17T00:54:15Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025241
name: Flame-shaped retinal hemorrhage
def: "A type of retinal hemorrhage that is located within the nerve fiber layer (NFL) of the retina and that exhibits a characteristic flame shape which results from constraints by the structure of the NFL (axons of the ganglion cells)." []
comment: Flame-shaped hemorrhages are typically located in the posterior pole and tend to resolve within around six weeks. THeir pathophysiology is thought to reflect ischemic leakage from arterioles or veins that are ischemic or, in the case of veins, under high pressure.
synonym: "Feathered retinal heme" EXACT []
synonym: "Flame-shaped retinal haemorrhage" EXACT uk_spelling []
synonym: "Linear retina heme" EXACT []
is_a: HP:0031805 ! Intraretinal hemorrhage
property_value: dc:date "2016-12-17T01:14:14Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025242
name: Dot-and-blot retinal hemorrhage
def: "Accumulation of blood located in the retina's inner nuclear and outer plexiform layers, and having a dot-like or blot-like shape. THe shape results from intraretinal compression, restricting the hemorrhages within a specific location." []
comment: Dot-ant-blot Intraretinal hemorrhages take longer to resolve than superficial hemorrhages because they're deeper than flame-shaped hemorrhages.
synonym: "Dot-and-blot retinal haemorrhage" EXACT uk_spelling []
synonym: "Round retinal heme" EXACT []
is_a: HP:0031805 ! Intraretinal hemorrhage
property_value: dc:date "2016-12-17T01:25:52Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025243
name: Subretinal hemorrhage
def: "Accumulation of blood located beneath the neurosensory retina in the space between the neurosensory retina and the retinal pigment epithelium." []
comment: Subretinal hemorrhages are located deep in the retina, displaying a dark coloration with the retinal vessels clearly visible above. Subretinal hemorrhages tend not to be well delineated because of the lack of firm attachments between the neurosensory retina and the retinal pigment epithelium, allowing the blood to spread.
synonym: "Subretinal haemorrhage" EXACT uk_spelling []
synonym: "Subretinal heme" EXACT []
is_a: HP:0000573 ! Retinal hemorrhage
property_value: dc:date "2016-12-17T01:29:29Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025244
name: Subretinal pigment epithelium hemorrhage
def: "An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch's membrane." []
synonym: "Subretinal pigment epithelium haemorrhage" EXACT uk_spelling []
is_a: HP:0000573 ! Retinal hemorrhage
property_value: dc:date "2016-12-17T01:39:54Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025245
name: Cutaneous cyst
def: "A hollow mass located in the skin that is surrounded by an epithelium-lined wall and is well demarcated from the adjacent tissue. Cysts are often said to be sac-like and may contain serous liquid or semisolid material." []
comment: In contrast to cysts, vesicles, pustules and bullae do not have a complete epithelial lining and are therefore less well demarcated.
synonym: "Skin cyst" EXACT layperson []
is_a: HP:0011355 ! Localized skin lesion
property_value: dc:date "2016-12-17T13:11:37Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025246
name: Trichilemmal cyst
def: "Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous." []
comment: Epidermal cysts and trichilemmal cysts are clinically indistinguishable. The wall of the epidermal cyst conserves the epidermal layers, but the wall of the trichilemmal cysts, which arise from the external root sheath, shows palisading of unlayered epithelial cells. Homogeneous horny material that is further degraded to fat and cholesterol forms within both types of cysts.
synonym: "Pilar cyst" EXACT []
is_a: HP:0025245 ! Cutaneous cyst
property_value: dc:date "2016-12-17T13:45:04Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025247
name: Dermoid cyst
def: "A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are slowly progressive and can grow to a size of 1 to 4 cm." []
comment: Hair protruding from a dermoid cyst punctum is pathognomic for dermoid cysts.
is_a: HP:0025245 ! Cutaneous cyst
property_value: dc:date "2016-12-17T13:49:23Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025248
name: Eruptive vellus hair cyst
def: "A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge." []
comment: Eruptive vellus hair cysts result from occlusion and cystic dilation of vellus hair follicles.
is_a: HP:0025245 ! Cutaneous cyst
property_value: dc:date "2016-12-17T13:52:25Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025249
name: Comedo
def: "A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle)." []
is_a: HP:0011355 ! Localized skin lesion
property_value: dc:date "2016-12-17T13:56:03Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025250
name: Closed comedo
def: "A comedo in which the top of the pore is not stretched open and thus does not expose the clogged portion (which would appear black), hence the name whitehead." []
synonym: "Whitehead" EXACT layperson [https://orcid.org/0000-0002-0736-9199]
is_a: HP:0025249 ! Comedo
property_value: dc:date "2016-12-17T13:57:50Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025251
name: Open comedo
def: "A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black." []
synonym: "Blackhead" EXACT layperson [https://orcid.org/0000-0002-0736-9199]
is_a: HP:0025249 ! Comedo
property_value: dc:date "2016-12-17T14:04:52Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025252
name: Geographic tongue
def: "An anomaly of the tongue characterized by loss (atrophy) of filiform papillae of the tongue, leaving areas of erythema (redness), surrounded by a serpiginous, white, hyperkeratotic border. The name geographic tongue refers to an appearance that is said to be similar to a map." [PMID:32119353]
synonym: "Annulus migrans" EXACT []
synonym: "Benign migratory glossitis" EXACT []
synonym: "Glossitis areata exfoliativa" EXACT []
synonym: "Lingual erythema migrans" EXACT []
synonym: "Wandering rash of the tongue" EXACT []
is_a: HP:0030809 ! Abnormal tongue morphology
property_value: dc:date "2016-12-17T14:09:31Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025253
name: Claustrophobia
def: "An abnormal fear of being in a closed or narrow space with no escape is called claustrophobia." []
is_a: HP:5200232 ! Phobia
property_value: dc:date "2016-12-17T14:14:59Z" xsd:dateTime
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-0692-412X
property_value: terms:contributor https://orcid.org/0000-0002-7405-0954
property_value: terms:contributor https://orcid.org/0000-0003-0072-5522
property_value: terms:contributor https://orcid.org/0000-0003-0224-647X
property_value: terms:contributor https://orcid.org/0000-0003-3398-7270
property_value: terms:contributor https://orcid.org/0009-0004-0873-4444
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025254
name: Ameliorated by
def: "An ameliorating factor is defined as an external factor that leads to a sign or symptom that is already present improving or becoming more bearable" []
synonym: "Improved by" EXACT []
is_a: HP:0012823 ! Clinical modifier
property_value: dc:date "2016-12-17T14:17:46Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025255
name: Ameliorated by pregnancy
def: "Applies to a sign or symptom that is improved or made more bearable by pregnancy in a female." []
synonym: "Pregnancy relieves symptoms" EXACT []
is_a: HP:0025254 ! Ameliorated by
property_value: dc:date "2016-12-17T14:19:29Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025256
name: Ameliorated by heat
def: "Applies to a sign or symptom that is improved or made more bearable by heat (including fever)." []
synonym: "Fever improves condition" NARROW []
synonym: "Heat improves condition" EXACT []
synonym: "Heat improves symptom" EXACT []
is_a: HP:0025254 ! Ameliorated by
property_value: dc:date "2016-12-17T14:20:45Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025257
name: Ameliorated by carbohydrate ingestion
def: "Applies to a sign or symptom that is improved or made more bearable by eating or drinking carbohydrates including glucose (sugar)." []
is_a: HP:0025254 ! Ameliorated by
property_value: dc:date "2016-12-17T14:21:33Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025258
name: Stiff neck
def: "A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side." []
synonym: "Neck stiffness" EXACT layperson []
synonym: "Stiff neck" EXACT layperson []
is_a: HP:0001387 ! Joint stiffness
is_a: HP:0005986 ! Limitation of neck motion
property_value: dc:date "2016-12-18T01:06:15Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025259
name: Stiff elbow
def: "A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity." []
synonym: "Elbow stiffness" EXACT layperson []
synonym: "Stiff elbow" EXACT layperson []
is_a: HP:0001387 ! Joint stiffness
property_value: dc:date "2016-12-18T01:11:24Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025260
name: Stiff wrist
def: "A sensation of tightness in the wrist joint when attempting to move it, especially after a period of inactivity." []
synonym: "Stiff wrist" EXACT layperson []
synonym: "Wrist stiffness" EXACT layperson []
is_a: HP:0001387 ! Joint stiffness
property_value: dc:date "2016-12-18T01:12:32Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025261
name: Stiff finger
def: "A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity." []
synonym: "Finger stiffness" EXACT layperson []
synonym: "Stiff finger" EXACT layperson []
is_a: HP:0001387 ! Joint stiffness
property_value: dc:date "2016-12-18T01:13:47Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025262
name: Stiff hip
def: "A sensation of tightness in the hip joint when attempting to move it, especially after a period of inactivity." []
synonym: "Hip stiffness" EXACT layperson []
synonym: "Stiff hip" EXACT layperson []
is_a: HP:0001387 ! Joint stiffness
property_value: dc:date "2016-12-18T01:15:11Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025263
name: Stiff knee
def: "A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity." []
synonym: "Knee stiffness" EXACT layperson []
synonym: "Stiff knee" EXACT layperson []
is_a: HP:0001387 ! Joint stiffness
property_value: dc:date "2016-12-18T01:16:12Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025264
name: Stiff ankle
def: "A sensation of tightness in the ankle joint when attempting to move it, especially after a period of inactivity." []
synonym: "Ankle stiffness" EXACT layperson []
synonym: "Stiff ankle" EXACT layperson []
is_a: HP:0001387 ! Joint stiffness
property_value: dc:date "2016-12-18T01:17:12Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025265
name: Stiff toe
def: "A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity." []
synonym: "Stiff toe" EXACT layperson []
synonym: "Toe stiffness" EXACT layperson []
is_a: HP:0001387 ! Joint stiffness
property_value: dc:date "2016-12-18T01:18:04Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025266
name: obsolete Cervical osteoarthritis
property_value: dc:date "2016-12-18T01:33:11Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199
is_obsolete: true
replaced_by: HP:0008480

[Term]
id: HP:0025267
name: Snoring
def: "Deep, noisy breathing during sleep, accompanied by hoarse or harsh sounds, is caused by the vibration of respiratory structures, especially the soft palate. This vibration results in sound due to obstructed air movement during breathing while sleeping." [PMID:35216759]
synonym: "Snore" EXACT []
synonym: "Snores" EXACT []
synonym: "Snoring symptoms" EXACT []
is_a: HP:5200283 ! Sleep-related breathing disorders
property_value: dc:date "2016-12-18T13:24:58Z" xsd:dateTime
property_value: terms:contributor https://orcid.org/0000-0001-6262-8264
property_value: terms:contributor https://orcid.org/0000-0001-9446-5121
property_value: terms:contributor https://orcid.org/0000-0002-1592-0825
property_value: terms:contributor https://orcid.org/0000-0002-4672-4923
property_value: terms:contributor https://orcid.org/0000-0002-5554-6946
property_value: terms:contributor https://orcid.org/0000-0002-7367-663X
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025268
name: Stuttering
def: "Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds." []
synonym: "Stammering" EXACT layperson [https://orcid.org/0000-0002-0736-9199]
synonym: "Stuttering" EXACT layperson []
is_a: HP:0002167 ! Abnormal speech pattern
property_value: dc:date "2016-12-18T13:27:31Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025269
name: Panic attack
def: "A sudden episode of intense fear in a situation where there is no danger or apparent cause." []
comment: The panic attack is accompanied by symptoms such as palpitations, sweating, and chills or hot flushes. There may be a sensation of dyspnea (feeling out of breath), chest pain, or abdominal distress. Some individuals with panic attacks may experience depersonalization, a fear of going crazy, or a fear of dying.
synonym: "Panic attack" EXACT layperson []
is_a: HP:0000739 ! Anxiety
property_value: dc:date "2016-12-18T13:34:22Z" xsd:dateTime
property_value: terms:contributor https://orcid.org/0000-0001-8430-6039
property_value: terms:contributor https://orcid.org/0000-0002-0692-412X
property_value: terms:contributor https://orcid.org/0000-0002-7405-0954
property_value: terms:contributor https://orcid.org/0000-0003-0072-5522
property_value: terms:contributor https://orcid.org/0000-0003-0224-647X
property_value: terms:contributor https://orcid.org/0000-0003-3398-7270
property_value: terms:contributor https://orcid.org/0009-0004-0873-4444
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025270
name: Abnormal esophagus physiology
def: "Any physiological abnormality of the esophagus." []
synonym: "Abnormality of esophagus physiology" EXACT []
synonym: "Abnormality of oesophagus physiology" EXACT uk_spelling []
synonym: "Functional abnormality of the esophagus" EXACT []
synonym: "Functional abnormality of the oesophagus" EXACT uk_spelling []
is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract
property_value: dc:date "2016-12-18T13:39:06Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025271
name: Esophageal spasms
def: "Involuntary contractions of the esophagus that are irregular, uncoordinated, and painful." []
is_a: HP:0025270 ! Abnormal esophagus physiology
property_value: dc:date "2016-12-18T13:45:05Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025272
name: Melasma
def: "Symmetrical, blotchy, brownish facial pigmentation." []
comment: Melasma can be seen in individuals who have had substantial exposure to the sun, in pregnant women, with hormone treatments or as a side effect of certain medications, or with hypothyroidism, among other causes.
synonym: "Chloasma" EXACT []
synonym: "Facial melanosis" EXACT []
is_a: HP:0000953 ! Hyperpigmentation of the skin
property_value: dc:date "2016-12-18T13:48:05Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025273
name: Achilles tendonitis
def: "Inflammation of the Achilles tendon." []
is_a: HP:0025230 ! Tendonitis
property_value: dc:date "2016-12-18T13:52:07Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025274
name: Ovarian dermoid cyst
def: "An cystic ovarian teratoma composed of dermal and epidermal elements and containing tissue components including hair, teeth, bone, thyroid, and others." []
synonym: "Mature cystic ovarian teratoma" EXACT []
is_a: HP:0000138 ! Ovarian cyst
is_a: HP:0012226 ! Ovarian teratoma
property_value: dc:date "2016-12-18T13:56:16Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025275
name: Lateral
def: "Applies to an abnormality that is located farther from the median plane or midline of the body or of the referenced structure." []
is_a: HP:0012836 ! Spatial pattern
property_value: dc:date "2016-12-18T14:47:04Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025276
name: Abnormality of skin adnexa physiology
def: "Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands." []
is_a: HP:0001574 ! Abnormality of the integument
property_value: dc:date "2016-12-18T14:51:16Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025277
name: Gustatory sweating
def: "Hyperhidrosis that occurs with gustatory stimulation (e.g., moisture on face from sweating that occurs after eating)." [PMID:22798976]
is_a: HP:0025276 ! Abnormality of skin adnexa physiology
property_value: dc:date "2016-12-18T15:12:09Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025278
name: Cold-induced sweating
def: "Sweating provoked by cold temperature rather than by heat." []
is_a: HP:0025276 ! Abnormality of skin adnexa physiology
property_value: dc:date "2016-12-18T15:16:15Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025279
name: Migratory
is_a: HP:0011008 ! Temporal pattern
property_value: dc:date "2016-12-18T15:18:09Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025280
name: Pain characteristic
def: "A pain characteristic is defined as a subjective category or type of pain." []
is_a: HP:0012823 ! Clinical modifier
property_value: dc:date "2016-12-18T15:21:51Z" xsd:dateTime
property_value: terms:creator https://orcid.org/0000-0002-0736-9199

[Term]
id: HP:0025281
name: Sharp
def: "Applied to pain that is described as sharp, i.e., sudden and severe." []
synonym: "Stabbing pain" EXACT []
is_a: HP:0025280 ! Pain characteristic
property_value: dc:date "2016-12-18T15:23:03Z" xsd:dateTime
property_value: terms:creator