format-version: 1.2
data-version: hp/releases/2023-04-05
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
remark: Please see license of HPO at http://www.human-phenotype-ontology.org
ontology: hp.obo
property_value: http://purl.org/dc/elements/1.1/creator "Human Phenotype Ontology Consortium" xsd:string
property_value: http://purl.org/dc/elements/1.1/creator "Monarch Initiative" xsd:string
property_value: http://purl.org/dc/elements/1.1/creator "Peter Robinson" xsd:string
property_value: http://purl.org/dc/elements/1.1/creator "Sebastian Köhler" xsd:string
property_value: http://purl.org/dc/elements/1.1/description "The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities and clinical features encountered in human disease." xsd:string
property_value: http://purl.org/dc/elements/1.1/rights "Peter Robinson, Sebastian Koehler, The Human Phenotype Ontology Consortium, and The Monarch Initiative" xsd:string
property_value: http://purl.org/dc/elements/1.1/subject "Phenotypic abnormalities encountered in human disease" xsd:string
property_value: http://purl.org/dc/elements/1.1/title "Human Phenotype Ontology" xsd:string
property_value: http://purl.org/dc/terms/license https://hpo.jax.org/app/license
property_value: IAO:0000700 HP:0000001
property_value: owl:versionInfo "2023-04-05" xsd:string
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: http://purl.org/dc/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: MSH:D021782
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\npipelines 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: MSH:D001750
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: "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: MSH:C562406
xref: SNOMEDCT_US:197866008
xref: UMLS:C0156273
is_a: HP:0025487 ! Abnormality of 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: MSH:D016055
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 occuring as a result of heart insufficiency.
synonym: "Nycturia" EXACT [https://orcid.org/0009-0006-4530-3154]
xref: MSH:D053158
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: MSH:D014549
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: MSH:C536139
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: MSH:D006552
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: MSH:D011472
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: MSH:D005058
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 in his semen." [https://orcid.org/0000-0002-0736-9199, PMID:20514278]
synonym: "Absent sperm in semen" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: MSH:D053713
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: MSH:D003456
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: MSH:D004823
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: Abnormality of male external genitalia
def: "An abnormality of male external genitalia." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025897
is_a: HP:0000811 ! Abnormal external genitalia
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 ! Abnormality of male external genitalia
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: MSH:D006848
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 ! Abnormality of male external genitalia

[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 ! Abnormality of male external genitalia

[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: MSH:D058490
xref: SNOMEDCT_US:111332007
xref: UMLS:C0238395
is_a: HP:0000032 ! Abnormality of male external genitalia

[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, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees." [https://orcid.org/0000-0002-0736-9199, PMID:23650202]
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

[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: MSH:D007006
xref: SNOMEDCT_US:33927004
xref: UMLS:C0271623
xref: UMLS:C3489396
is_a: HP:0000135 ! Hypogonadism

[Term]
id: HP:0000045
name: Abnormality of the scrotum
xref: UMLS:C4025895
is_a: HP:0000032 ! Abnormality of male external genitalia

[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 ! Abnormality of the scrotum
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 ! Abnormality of the scrotum

[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 ! Abnormality of the scrotum

[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 ! Abnormality of male external genitalia
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: Abnormality of female external genitalia
def: "An 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]
xref: UMLS:C4021822
is_a: HP:0000811 ! Abnormal external genitalia
is_a: HP:0010460 ! Abnormality of the female genitalia

[Term]
id: HP:0000056
name: Abnormality of the clitoris
def: "An 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]
xref: UMLS:C4025893
is_a: HP:0000055 ! Abnormality of female external genitalia

[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 ! Abnormality of female external genitalia

[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 ! Abnormality of female external genitalia
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: MSH:D012734
xref: SNOMEDCT_US:21321009
xref: UMLS:C0266362
is_a: HP:0000811 ! Abnormal external genitalia

[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 ! Abnormality of female external genitalia
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: MSH:D014518
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]
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: MSH:C537373
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:0012210 ! Abnormal renal morphology
property_value: http://purl.org/dc/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 []
xref: Fyler:4510
xref: MSH:D014718
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: MSH:D007674
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: http://purl.org/dc/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: MSH:D051437
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: MSH:D000069337
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: MSH:D011507
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: MSH:D005923
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: http://purl.org/dc/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: MSH:D005921
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: MSH:D009404
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: MSH:D011141
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: MSH:D052177
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: MSH:C563261
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: MSH:D007674
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: "Enlarged polycystic kidneys" EXACT []
synonym: "Polycystic kidney disease" RELATED []
synonym: "Polycystic kidneys" EXACT []
xref: Fyler:4508
xref: MSH:D007690
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: MSH:D014564
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: MSH:D009397
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: MSH:D009393
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: MSH:D006869
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: MSH:C562565
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: MSH:D007889
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: MSH:D008595
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
synonym: "Mixed gonadal dysgenesis" EXACT []
synonym: "Pure gonadal dysgenesis" EXACT []
xref: MSH:D006059
xref: MSH:D006060
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: MSH:D007006
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: MSH:D010049
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: MSH:D010048
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: MSH:D014596
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: MSH:D012006
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: MSH:D011085
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: MSH:D018238
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: "Aplasia of the uterus." [https://orcid.org/0000-0002-0736-9199]
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: MSH:D009056
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: MSH:D008265
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: MSH:D019226
xref: SNOMEDCT_US:26284000
xref: UMLS:C0149745
is_a: HP:0011830 ! Abnormal oral mucosa morphology

[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:0000163 ! Abnormal oral cavity morphology

[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: MSH:D008260
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: MSH:D008865
xref: SNOMEDCT_US:14582003
xref: UMLS:C0026034
is_a: HP:0011337 ! Abnormality of mouth size

[Term]
id: HP:0000161
name: Median cleft 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: MSH:D065710
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: MSH:D014071
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: MSH:C562884
xref: MSH:D005351
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: MSH:D014060
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: MSH:D002972
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]
synonym: "Submucosal cleft palate" EXACT []
synonym: "Submucous clefting" RELATED []
xref: SNOMEDCT_US:43437003
xref: UMLS:C0432103
xref: UMLS:C4020894
is_a: HP:0410031 ! Submucous cleft of soft and hard 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: Difficulty in tongue movements
synonym: "Difficulty in lingual movements" EXACT [https://orcid.org/0000-0001-5889-4463]
synonym: "Difficulty in tongue movements" EXACT layperson []
synonym: "Hypokinesia of the tongue" NARROW [https://orcid.org/0000-0001-5889-4463]
synonym: "Lingual hypokinesia" NARROW [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C1853406
xref: UMLS:C4280676
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: MSH:C562950
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 ! Abnormality of the alveolar ridges

[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: MSH:D010855
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 in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. 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, 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

[Term]
id: HP:0000204
name: Cleft upper lip
def: "A gap 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: MSH:D002971
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: MSH:D005928
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: MSH:D014313
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: MSH:D005885
xref: MSH:D005886
xref: MSH:D019214
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: MSH:D014987
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\napplied 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: MSH:D014681
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: MSH:D014063
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 aesthetic 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: MSH:D000370
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: MSH:D005884
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: MSH:D005891
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: Abnormality of the fontanelles or cranial sutures
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]
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.
xref: UMLS:C4025876
is_a: HP:0000929 ! Abnormal skull morphology

[Term]
id: HP:0000236
name: Abnormality of the anterior fontanelle
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 forehead soft spot" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4025875
is_a: HP:0011328 ! Abnormality of fontanelles

[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 ! Abnormality of the anterior fontanelle

[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: MSH:D006849
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 ! Abnormality of fontanelles

[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: MSH:D003398
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: MSH:D010254
xref: MSH:D012852
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: MSH:D003398
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" EXACT [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 ! Abnormality of the anterior fontanelle
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: MSH:D003398
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 []
xref: MSH:D003398
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: MSH:D008417
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: "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: "Weak chin" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
synonym: "Weak jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
xref: MSH:D063173
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]
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: Abnormality of the forehead
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: MSH:D008313
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: MSH:D006972
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: MSH:D005155
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: MSH:D005146
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]
subset: hposlim_core
synonym: "Face with broad temples and narrow chin" EXACT layperson [https://orcid.org/0000-0001-5889-4463]
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 ! Abnormality of the forehead

[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 ! Abnormality of the forehead

[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 ! Abnormality of the forehead

[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: "Lower jaw retrusion" EXACT []
synonym: "Mandibular deficiency" EXACT []
synonym: "Mandibular hypoplasia" EXACT []
synonym: "Mandibular micrognathia" EXACT []
synonym: "Mandibular retrognathia" EXACT []
synonym: "Mandibular retrusion" EXACT []
synonym: "Micrognathia of lower jaw" EXACT []
synonym: "Micromandible" EXACT []
synonym: "Retrusion of lower jaw" RELATED [https://orcid.org/0000-0001-5889-4463]
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: MSH:D008844
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 ! Abnormality of the forehead

[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 ! Abnormality of the forehead

[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 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: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: MSH:D014012
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: MSH:D010040
xref: SNOMEDCT_US:11543004
xref: UMLS:C0029899
is_a: HP:0008628 ! Abnormality of the stapes

[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: MSH:D003638
xref: MSH:D034381
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: Low-set, posteriorly rotated ears
def: "Ears that are low-set and posteriorly rotated." [https://orcid.org/0000-0002-0736-9199]
comment: This bundled term is left for convenience because of its common use in the literature. It is preferable to code each feature separately.
synonym: "Low-set posteriorly rotated ears" EXACT []
xref: UMLS:C1857486
is_a: HP:0000358 ! Posteriorly rotated ears
is_a: HP:0000369 ! Low-set ears

[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: Abnormality of the auditory canal
def: "An abnormality of the External acoustic tube (also known as the auditory canal)." [https://orcid.org/0000-0002-0736-9199]
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 ! Morphological abnormality of the inner ear

[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:0008580
alt_id: HP:0008582
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 ! Abnormality of the stapes

[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: MSH:D010033
xref: SNOMEDCT_US:65363002
xref: UMLS:C0029882
is_a: HP:0000370 ! Abnormality of the middle ear
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 ! Abnormality of the auditory canal

[Term]
id: HP:0000403
name: Recurrent otitis media
alt_id: HP:0008622
alt_id: HP:0008623
alt_id: HP:0008624
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: MSH:D006314
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: MSH:D006319
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: MSH:D046089
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 ! Abnormality of the auditory canal

[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: MSH:C538354
xref: UMLS:C0240543
xref: UMLS:C1834118
xref: UMLS:C1855751
is_a: HP:0000436 ! Abnormal nasal tip morphology

[Term]
id: HP:0000415
name: Abnormality of the choanae
def: "Abnormality of the choanae (the posterior nasal apertures)." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025855
is_a: HP:0000366 ! Abnormality of the nose

[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: MSH:D004844
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 ! Abnormality of the choanae

[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: MSH:D002754
xref: SNOMEDCT_US:204508009
xref: UMLS:C0008297
is_a: HP:0000415 ! Abnormality of the choanae

[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: MSH:D000857
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: MSH:D014103
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: MSH:D018191
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: MSH:D005124
xref: MSH:D005128
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: MSH:D012164
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 astigmatism 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: MSH:D001251
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: MSH:C562829
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: MSH:D013285
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: MSH:D012164
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: MSH:D015841
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: MSH:D007634
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: http://purl.org/dc/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: MSH:D003320
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: MSH:D001762
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 recognised at the superior and inferior poles of the optic disc. The vertical cup:disc 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: MSH:D005901
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: MSH:D014786
xref: MSH:D015354
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: MSH:C562941
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]
xref: MSH:D001763
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: MSH:D003231
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: MSH:D012174
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 []
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: MSH:D007905
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: MSH:D002386
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: MSH:D005094
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: MSH:C562827
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: MSH:D015783
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: MSH:D000853
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 disc edema secondary to increased intracranial pressure.
subset: hposlim_core
xref: MSH:C562401
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: MSH:D006956
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: MSH:D012163
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 disk (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]
synonym: "Pale optic disk" EXACT []
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: MSH:D009886
xref: MSH:D017246
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: MSH:D009216
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: MSH:D012162
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 []
xref: MSH:D012174
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 []
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: "Loss in color vision" RELATED []
synonym: "Loss in colour vision" RELATED uk_spelling []
xref: MSH:D003117
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: MSH:D003117
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: MSH:D014605
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: MSH:D058499
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: MSH:D006871
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: MSH:C535679
xref: SNOMEDCT_US:47507006
xref: UMLS:C0265341
is_a: HP:0007676 ! Hypoplasia of the iris

[Term]
id: HP:0000559
name: Corneal scarring
xref: MSH:D065306
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: MSH:D007640
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 thatn 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: MSH:D004948
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: MSH:D008850
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: MSH:D012166
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: MSH:D009898
xref: MSH:D012607
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: MSH:D012607
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: MSH:D005099
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: MSH:D007767
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: MSH:D012174
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: MSH:D016569
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: MSH:C562399
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 disk coloboma" EXACT []
synonym: "Optic nerve coloboma" EXACT []
xref: MSH:C535970
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: MSH:D003103
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: MSH:D017246
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: MSH:D009886
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 ! Abnormality of the forehead
is_a: HP:0009553 ! Abnormality of the hairline
property_value: http://purl.org/dc/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\nto 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: MSH:D009886
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: MSH:D012607
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]
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: MSH:D015862
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: MSH:D020795
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: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708
property_value: http://purl.org/dc/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: MSH:D015877
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 visual perception below 3/60 and/or 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: MSH:D001766
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: MSH:D015835
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: MSH:D003607
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: MSH:D004774
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 ability to produce tears." [https://orcid.org/0000-0002-0736-9199]
synonym: "Decreased tear secretion" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
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: MSH:D009759
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: MSH:D009760
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: MSH:D003117
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: MSH:D001764
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: MSH:D000550
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: MSH:C565209
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 ischaemic optic neuropathy or a compressive lesion.
subset: hposlim_core
synonym: "Optic nerve atrophy" EXACT []
synonym: "Optic-nerve degeneration" EXACT []
xref: MSH:D009896
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

[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: MSH:D004172
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: "Descreased 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: MSH:D004483
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 cancellation 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: MSH:C537423
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: MSH:C537884
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: MSH:D009755
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: MSH:D009759
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: MSH:D000848
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: MSH:D003731
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: MSH:D000848
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\nto 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: MSH:D008310
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: MSH:C536946
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 ! Abnormality of 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 grey 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: MSH:D008310
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 ! Abnormality of 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: MSH:D009306
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 ! Abnormality of 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: MSH:D003970
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: MSH:D010484
xref: MSH:D011842
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: MSH:D003811
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: MSH:D005882
xref: MSH:D010510
xref: MSH:D010518
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: MSH:D000567
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: MSH:D009421
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: "An abnormality of mental functioning including various affective, behavioral, cognitive, and perceptual abnormalities." []
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: "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: MSH:D000066553
xref: MSH:D001526
xref: SNOMEDCT_US:25786006
xref: SNOMEDCT_US:277843001
xref: UMLS:C0004941
xref: UMLS:C0233514
is_a: HP:0011446 ! Abnormality of higher mental function
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389

[Term]
id: HP:0000709
name: Psychosis
def: "A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs." [https://orcid.org/0000-0002-0736-9199]
synonym: "Psychosis" EXACT layperson []
xref: MSH:D011618
xref: SNOMEDCT_US:69322001
xref: UMLS:C0033975
is_a: HP:0000708 ! Atypical behavior

[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: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389

[Term]
id: HP:0000711
name: Restlessness
def: "A state of unease characterized by diffuse motor activity or motion, subject to limited control, nonproductive, or disorganized behavior." [PMID:28332736]
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:5200045 ! Reduced impulse control
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389

[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 out of proportion to events and circumstances." [PMID:23902698]
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 emotion/affect behavior

[Term]
id: HP:0000713
name: Agitation
def: "A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension." [PMID:29630205]
xref: SNOMEDCT_US:24199005
xref: UMLS:C0085631
is_a: HP:0000711 ! Restlessness
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389

[Term]
id: HP:0000716
name: Depression
def: "Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior." [https://orcid.org/0000-0002-0736-9199, PMID:23902698]
synonym: "Depression" EXACT layperson []
synonym: "Depressive disorder" RELATED []
synonym: "Depressivity" EXACT []
xref: MSH:D003866
xref: SNOMEDCT_US:21061000119107
xref: SNOMEDCT_US:35489007
xref: SNOMEDCT_US:78667006
xref: UMLS:C0011581
is_a: HP:0031466 ! Impairment in personality functioning

[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: MSH:D001321
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
def: "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [https://orcid.org/0000-0002-0736-9199]
synonym: "Aggression" EXACT layperson []
synonym: "Aggressive behavior" EXACT layperson []
synonym: "Aggressive behaviour" EXACT layperson []
synonym: "Aggressiveness" EXACT layperson []
synonym: "physical aggression" RELATED layperson []
xref: MSH:D000374
xref: SNOMEDCT_US:248004009
xref: SNOMEDCT_US:61372001
xref: UMLS:C0001807
xref: UMLS:C0424323
xref: UMLS:C1457883
is_a: HP:0006919 ! Abnormal aggressive, impulsive or violent behavior

[Term]
id: HP:0000719
name: Inappropriate behavior
synonym: "Inappropriate behavior" EXACT layperson []
synonym: "Inappropriate behaviour" EXACT uk_spelling []
xref: SNOMEDCT_US:112082005
xref: UMLS:C0233522
is_a: HP:0031466 ! Impairment in personality functioning

[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:0000708 ! Atypical behavior

[Term]
id: HP:0000722
name: Compulsive behaviors
def: "Behavior that consists of repetitive acts that are characterized by the feeling that one 'has to' perform them while one is aware that these acts are not in line with one's overall goal" [PMID:31016439]
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 [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: MSH:D003192
xref: MSH:D009771
xref: SNOMEDCT_US:12479006
xref: SNOMEDCT_US:191736004
xref: UMLS:C0028768
xref: UMLS:C0600104
is_a: HP:0031432 ! Atypical repetitive behaviors
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389

[Term]
id: HP:0000723
name: Restrictive behavior
def: "Behavior characterized by an abnormal limitation to few interests and activities." [https://orcid.org/0000-0002-0736-9199]
synonym: "Restricted behavior" EXACT []
synonym: "Restricted behaviour" EXACT uk_spelling []
synonym: "Restrictive behavior, interests, and activities" RELATED [https://orcid.org/0000-0002-5316-1399]
synonym: "Restrictive behaviour" EXACT []
xref: UMLS:C2675334
xref: UMLS:C4021799
is_a: HP:0000729 ! Autistic behavior

[Term]
id: HP:0000725
name: Psychotic episodes
synonym: "Psychotic episodes" EXACT layperson []
xref: UMLS:C0338614
is_a: HP:0000709 ! Psychosis

[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: MSH:D003704
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
xref: UMLS:C1837649
is_a: HP:0000735 ! Impaired social interactions

[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.
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: MSH:D000067877
xref: UMLS:C0856975
xref: UMLS:C1510586
is_a: HP:0000708 ! Atypical behavior

[Term]
id: HP:0000732
name: Inflexible adherence to routines or rituals
def: "A need to strictly adhere to repetitive routines or patterns of behavior; when one becomes upset or distressed when their routines are disrupted or altered." [PMID:12469238]
xref: UMLS:C1837653
is_a: HP:0030223 ! Manifestations of perseverative thought or action
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389

[Term]
id: HP:0000733
name: Abnormal repetitive mannerisms
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." [PMID:22161914]
synonym: "Motor stereotypy" 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 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: "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: "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 [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 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: MSH:D013239
xref: MSH:D019956
xref: SNOMEDCT_US:5507002
xref: SNOMEDCT_US:84328007
xref: UMLS:C0038271
xref: UMLS:C0038273
is_a: HP:0031432 ! Atypical repetitive behaviors
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389

[Term]
id: HP:0000734
name: Disinhibition
def: "A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment." [PMID:23902698]
comment: Disinhibition affects motor, instinctual, emotional, cognitive, and perceptual aspects with signs and symptoms similar to the diagnostic criteria for mania. Hypersexuality, hyperphagia, and aggressive outbursts are indicative of disinhibited instinctual drives.
xref: SNOMEDCT_US:247977003
xref: UMLS:C0424296
is_a: HP:5200045 ! Reduced impulse control
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389

[Term]
id: HP:0000735
name: Impaired social interactions
def: "Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships." [https://orcid.org/0000-0002-0736-9199]
synonym: "Impaired social interaction" EXACT layperson []
synonym: "Impaired social interactions" EXACT layperson []
synonym: "Poor social interactions" EXACT layperson []
xref: MSH:D000067404
xref: SNOMEDCT_US:88598008
xref: UMLS:C0150080
is_a: HP:0000729 ! Autistic behavior
is_a: HP:0012433 ! Abnormal social behavior

[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: "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: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389

[Term]
id: HP:0000737
name: Irritability
def: "A proneness to anger, i.e., a condition of being easily bothered or annoyed." [PMID:27343883]
synonym: "Irritability" EXACT layperson []
synonym: "Irritable" EXACT layperson []
xref: UMLS:C2700617
is_a: HP:0100851 ! Abnormal emotion/affect behavior

[Term]
id: HP:0000738
name: Hallucinations
def: "Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space." [https://orcid.org/0009-0006-4530-3154]
synonym: "Hallucination" EXACT layperson []
synonym: "Hallucinations" EXACT layperson []
synonym: "Sensory hallucination" EXACT layperson [https://orcid.org/0000-0001-6908-9849]
xref: MSH:D006212
xref: SNOMEDCT_US:7011001
xref: UMLS:C0018524
xref: UMLS:C0235153
is_a: HP:0000708 ! Atypical behavior

[Term]
id: HP:0000739
name: Anxiety
def: "Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control." [https://orcid.org/0000-0002-0736-9199, PMID:23902698]
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: MSH:D001007
xref: SNOMEDCT_US:48694002
xref: UMLS:C0003467
xref: UMLS:C4020884
is_a: HP:0100852 ! Abnormal fear/anxiety-related behavior

[Term]
id: HP:0000740
name: Episodic paroxysmal anxiety
def: "Recurrent attacks of severe anxiety, whose occurence is not restricted to any particular situation or set of circumstances and is therefore unpredictable." []
comment: An anxiety attack may manifest with one or more of the following symptoms: (i) breathing difficulty; (ii) palpitations; (iii) a feeling of unreality; (iv) pains 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 (parasthesiae); (xi) choking or smothering feelings.
xref: UMLS:C1854339
is_a: HP:0000739 ! Anxiety

[Term]
id: HP:0000741
name: Apathy
synonym: "Lack of feeling, emotion, interest" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D057565
xref: SNOMEDCT_US:20602000
xref: UMLS:C0085632
is_a: HP:0000745 ! Diminished motivation

[Term]
id: HP:0000742
name: Self-mutilation
synonym: "Deliberate self-harm" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Self mutilation" EXACT layperson []
synonym: "Self-mutilation" EXACT layperson []
xref: MSH:D012652
xref: SNOMEDCT_US:130968006
xref: UMLS:C0036601
is_a: HP:0100716 ! Self-injurious behavior

[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 if 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." [PMID:21461367]
synonym: "Intolerance to frustration" EXACT []
xref: UMLS:C0548883
is_a: HP:0100851 ! Abnormal emotion/affect behavior

[Term]
id: HP:0000745
name: Diminished motivation
def: "A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action." [https://orcid.org/0000-0002-0736-9199, PMID:16030444]
synonym: "Diminished motivation" EXACT layperson []
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:0100851 ! Abnormal emotion/affect behavior

[Term]
id: HP:0000746
name: Delusions
def: "A false belief that is held despite evidence to the contrary." [https://orcid.org/0009-0006-4530-3154]
synonym: "Delusions" EXACT layperson []
xref: MSH:D003702
xref: SNOMEDCT_US:2073000
xref: UMLS:C0011253
is_a: HP:0000708 ! Atypical behavior

[Term]
id: HP:0000748
name: Inappropriate laughter
synonym: "Inappropriate laughter" EXACT layperson []
xref: SNOMEDCT_US:247985007
xref: UMLS:C0424304
is_a: HP:0000719 ! Inappropriate behavior

[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: MSH:D007805
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 ! Abnormality of speech or vocalization
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." [https://orcid.org/0000-0002-0736-9199]
comment: This term refers to changes in personality that are perceived as being 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:0000708 ! Atypical behavior

[Term]
id: HP:0000752
name: Hyperactivity
alt_id: HP:0008764
def: "Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate." [PMID:26386541]
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 [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: MSH:D006948
xref: SNOMEDCT_US:44548000
xref: UMLS:C0424295
is_a: HP:5200045 ! Reduced impulse control
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389

[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 avoidance of public places, especially where crowds gather." [https://orcid.org/0000-0002-0736-9199]
synonym: "Fear of open spaces" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: MSH:D000379
xref: SNOMEDCT_US:247830007
xref: SNOMEDCT_US:70691001
xref: UMLS:C0001818
is_a: HP:0100852 ! Abnormal fear/anxiety-related behavior

[Term]
id: HP:0000757
name: Lack of insight
synonym: "Lack of insight" EXACT layperson []
xref: SNOMEDCT_US:24340004
xref: UMLS:C0233824
is_a: HP:0000708 ! Atypical behavior

[Term]
id: HP:0000758
name: Abnormal nonverbal communicative behavior
def: "Abnormalities in eye contact, communicative facial expressions, gesture use, or use of other's body to communicate. These convey a shared meaning within a culture that replace or supplement verbal communication." [PMID:34981308]
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 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: UMLS:C4021798
is_a: HP:0034434 ! Abnormal communication
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9112-5148
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-6670-9157
property_value: http://purl.org/dc/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: MSH:D010523
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: MSH:D066166
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: MSH:D006177
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: MSH:D065630
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: Abnormality of the thymus
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: MSH:D053040
xref: UMLS:C0392525
is_a: HP:0012210 ! Abnormal renal morphology

[Term]
id: HP:0000789
name: Infertility
synonym: "Infertility" EXACT layperson []
xref: MSH:D007246
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: MSH:D006417
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: MSH:D015432
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: MSH:D005922
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:0000032 ! Abnormality of male external genitalia
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: MSH:D014524
xref: SNOMEDCT_US:95588004
xref: UMLS:C0041972
is_a: HP:0000795 ! Abnormality of the urethra

[Term]
id: HP:0000798
name: Oligospermia
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]
xref: MSH:D009845
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: MSH:D007172
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: MSH:D004775
xref: SNOMEDCT_US:8009008
xref: UMLS:C0014394
is_a: HP:0000009 ! Functional abnormality of the bladder

[Term]
id: HP:0000807
name: Glandular hypospadias
xref: SNOMEDCT_US:204891000
xref: SNOMEDCT_US:429631000124104
xref: UMLS:C0452168
is_a: HP:0000047 ! 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: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-02-27T04:07:00Z

[Term]
id: HP:0000811
name: Abnormal 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: MSH:D007006
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: http://purl.org/dc/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: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9112-5148
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-6670-9157
property_value: http://purl.org/dc/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: MSH:D004700
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: MSH:D003920
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: MSH:D013959
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: MSH:D007037
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: MSH:D006973
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: MSH:D011628
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.
synonym: "Growth hormone deficiency" EXACT layperson []
synonym: "Somatotropin deficiency" EXACT []
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: MSH:D011629
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: MSH:D010279
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: MSH:D007011
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: MSH:D000307
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: MSH:C538429
xref: SNOMEDCT_US:237774001
xref: UMLS:C0342491
xref: UMLS:C1846223
is_a: HP:0011732 ! Abnormality of 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: MSH:D006980
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: MSH:D004393
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: MSH:D047808
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: MSH:D006946
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: MSH:D006961
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: MSH:C531600
xref: MSH:D000172
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: MSH:D000309
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 level
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 plasma renin" EXACT []
synonym: "Increased serum renin" EXACT []
xref: UMLS:C0240783
is_a: HP:0040084 ! Abnormal circulating renin

[Term]
id: HP:0000849
name: Adrenocortical abnormality
xref: UMLS:C4025820
is_a: HP:0011732 ! Abnormality of 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: MSH:D003409
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: MSH:D011547
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: MSH:D006042
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: MSH:D013964
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: MSH:D007333
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: Hyperaldosteronism
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: "Increased aldosterone" EXACT layperson []
synonym: "Increased aldosterone production" EXACT layperson []
synonym: "Mineralocorticoid excess" EXACT []
xref: MSH:D006929
xref: SNOMEDCT_US:88213004
xref: UMLS:C0020428
is_a: HP:0002717 ! Adrenal overactivity

[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: MSH:D020790
xref: SNOMEDCT_US:45369008
xref: UMLS:C0687720
is_a: HP:0000873 ! Diabetes insipidus
is_a: HP:0011751 ! Abnormality of the posterior pituitary

[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: MSH:D006962
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: MSH:D006966
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: MSH:C580003
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: MSH:D050031
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: MSH:D003919
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: MSH:D009839
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: MSH:D057070
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." [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: MSH:C535802
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: Beaded ribs
def: "The presence of a row of multiple rounded expansions (beadlike prominences) at the junction of a rib and its cartilage." [https://orcid.org/0000-0002-0736-9199]
comment: Beaded ribs, sometimes referred to as rachitic rosary, were often seen in rachitic children.
xref: UMLS:C0426824
is_a: HP:0000772 ! Abnormal rib morphology

[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 ! Abnormality of the skull base

[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 ! Abnormality of the skull base

[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: MSH:D002805
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: MSH:D001851
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: MSH:D010024
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 ! Abnormality of 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: MSH:D008059
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 ! Abnormality of 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: MSH:D012868
xref: MSH:D012871
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: MSH:D007565
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: MSH:D017495
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: MSH:D000052
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: MSH:D019080
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 ! Abnormality of 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: MSH:D003490
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
def: "Hyperkeratosis is thickening of 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
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: Eczema
alt_id: HP:0001481
def: "Eczema is a form of dermatitis. 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." [https://orcid.org/0000-0002-0736-9199]
comment: Eczema has several forms including atopic dermatitis, contact dermatitis, dyshidrotic eczema, nummular eczema, seborrheic dermatitis, and stasis dermatitis.
synonym: "Eczema" EXACT layperson []
xref: MSH:D004485
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: "Inadequate sweating" EXACT [https://orcid.org/0000-0001-6908-9849]
synonym: "Oligohidrosis" EXACT []
synonym: "Sweating, decreased" EXACT layperson []
xref: MEDDRA:10021013 "Hypohidrosis"
xref: MSH:D007007
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: MSH:D011693
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: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: MSH:D004476
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: "Water retention" EXACT layperson []
xref: MSH:D004487
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: MSH:D007007
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: MSH:D013543
xref: SNOMEDCT_US:88232005
xref: UMLS:C0038986
xref: UMLS:C0262643
xref: UMLS:C4020881
is_a: HP:0011138 ! Abnormality of 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: MSH:D007645
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: MSH:C531660
xref: MSH:D003483
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: MSH:D006945
xref: MSH:D013546
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: Eczematoid dermatitis
xref: MSH:D004485
xref: SNOMEDCT_US:281104002
xref: SNOMEDCT_US:43116000
xref: UMLS:C0013595
is_a: HP:0000964 ! Eczema

[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: MSH:D004438
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: MSH:D011693
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: MSH:D010167
xref: SNOMEDCT_US:398979000
xref: UMLS:C0030232
is_a: HP:0011121 ! Abnormality of 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: "Palmar and plantar keratoderma" EXACT []
synonym: "Thickening of palms and soles" EXACT layperson []
xref: MSH:D007645
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: MSH:D005076
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: MSH:D011537
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: MSH:D014973
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: MSH:D010787
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: MSH:D009508
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: MSH:D006983
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: MSH:D011711
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 ! Abnormality of 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: MSH:D008209
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: MSH:D006628
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: "Cutaneous telangiectasia" EXACT []
synonym: "Spider veins" RELATED layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Telangiectases" EXACT []
xref: MSH:D013684
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: MSH:D017496
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: MSH:D008067
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: MSH:D000794
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 noticable 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]
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: MSH:D003873
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: MSH:D000417
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: MSH:D014581
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: MSH:D006391
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]
comment: Poikiloderma does not refer to a specific disease entity, but can be seen owing to a number of different causes.
subset: hposlim_core
xref: MEDDRA:10057041 "Poikiloderma"
xref: SNOMEDCT_US:402685001
xref: SNOMEDCT_US:70114006
xref: UMLS:C0392777
is_a: HP:0011121 ! Abnormality of 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: MSH:D010241
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: MSH:D001821
xref: MSH:D012393
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: MSH:D014820
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: "Atopic dermatitis, chronic" EXACT []
synonym: "Baby eczema" RELATED layperson [https://orcid.org/0000-0001-6908-9849]
synonym: "Dermatitis, Atopic" EXACT []
xref: MSH:D003876
xref: SNOMEDCT_US:200775004
xref: SNOMEDCT_US:24079001
xref: UMLS:C0011615
xref: UMLS:C4280605
is_a: HP:0000964 ! Eczema

[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: MSH:D006392
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: MSH:D012628
xref: SNOMEDCT_US:50563003
xref: SNOMEDCT_US:86708008
xref: UMLS:C0036508
xref: UMLS:C3806554
is_a: HP:0000964 ! Eczema

[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: MSH:D019339
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
is_a: HP:0010566 ! Hamartoma

[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: MSH:D004881
xref: MSH:D004886
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: MSH:D004476
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" RELATED []
xref: MSH:D011625
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: MSH:D004416
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: MSH:D057896
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: Neurofibromas
alt_id: HP:0006746
alt_id: HP:0007386
alt_id: HP:0007612
def: "The presence of multiple cutaneous neurofibromas." [https://orcid.org/0000-0002-0736-9199]
synonym: "multiple neurofibromas" RELATED []
synonym: "Neurofibromata" EXACT []
synonym: "Neurofibromatosis" EXACT []
xref: MSH:D017253
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: MSH:D000795
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 ! Abnormality of 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: MSH:D001660
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: MSH:D002769
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: MSH:D002764
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: MSH:D004479
xref: MSH:D007906
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 grey 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: MSH:D001112
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: MSH:D010211
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: MSH:D006871
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: MSH:C566703
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: MSH:D015863
xref: SNOMEDCT_US:77971008
xref: UMLS:C0022073
is_a: HP:0012122 ! Anterior uveitis

[Term]
id: HP:0001095
name: Hypertensive retinopathy
subset: secondary_consequence
xref: MSH:D058437
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: MSH:D007637
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: MSH:C531719
xref: MSH:D007638
xref: MSH:D014985
xref: MSH:D015352
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: MSH:C538115
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: MSH:D007500
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: MSH:D000793
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 millimetres 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: MSH:D012162
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: MSH:D016117
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: MSH:D029242
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: MSH:D014973
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: MSH:C535968
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 humour: 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: MSH:D058457
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: MSH:D007906
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: MSH:C538282
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: MSH:D015794
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 defined as visual acuity less than 6/60 (20/200 in US notation; 0.1 in decimal notation) but at least 3/60 (20/400 in US notation; 0.05 in decimal notation)." [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: MSH:D028227
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: MSH:D006226
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: MSH:D059327
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: MSH:D013576
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: 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: MSH:D054119
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 middel 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: MSH:C536903
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: MSH:C536332
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: Hand oligodactyly
def: "A developmental defect resulting in the presence of fewer than the normal number of fingers." [https://orcid.org/0000-0002-0736-9199]
synonym: "Hand has less than 5 fingers" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:71358006
xref: UMLS:C0728895
is_a: HP:0009380 ! Aplasia of the fingers
is_a: HP:0012165 ! Oligodactyly

[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]
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: "Hand clenching" EXACT layperson []
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:0003019 ! Abnormality of the wrist
is_a: HP:0005922 ! Abnormal hand 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: "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: MSH:D058529
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: MSH:C573898
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: "Spontaneous detachment (amputation) of an appendage from the body." [https://orcid.org/0000-0002-0736-9199]
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:0003019 ! Abnormality of the wrist

[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 ! Abnormality of the nail

[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 ! Abnormality of the nail

[Term]
id: HP:0001233
name: 2-3 finger syndactyly
alt_id: HP:0006039
alt_id: HP:0006122
def: "Syndactyly with fusion of fingers two and three." [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:0006101 ! Finger syndactyly

[Term]
id: HP:0001234
name: Hitchhiker thumb
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:0003019 ! Abnormality of the wrist
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 ! Abnormality of the hamate bone
is_a: HP:0004262 ! Abnormality of the capitate bone
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]
synonym: "Shortened short 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: "Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70." [https://orcid.org/0000-0002-0736-9199]
comment: This term should be used for children at least five years old. For younger children, consider 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: MSH:D008607
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 higher 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 characterised 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: MSH:D004827
xref: MSH:D012640
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: MSH:D002524
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: MSH:D009123
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 disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating." [https://orcid.org/0000-0002-0736-9199]
synonym: "Lethargy" EXACT layperson []
xref: MSH:D053609
xref: SNOMEDCT_US:214264003
xref: UMLS:C0023380
is_a: HP:0004372 ! Reduced consciousness/confusion

[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: MSH:D009128
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: "Spasticity and weakness of the leg and hip muscles." [https://orcid.org/0000-0002-0736-9199]
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: MSH:D010264
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: "Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli." [https://orcid.org/0000-0002-0736-9199]
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 []
xref: ICD-10:R40.2 "Coma, unspecified"
xref: MSH:D003128
xref: SNOMEDCT_US:371632003
xref: UMLS:C0009421
is_a: HP:0004372 ! Reduced consciousness/confusion

[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: MSH:D004401
xref: SNOMEDCT_US:8011004
xref: UMLS:C0013362
is_a: HP:0002167 ! Abnormality of speech or vocalization

[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 disturbance
is_a: HP:0004372 ! Reduced consciousness/confusion

[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: "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: MSH:D002547
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: MSH:D060825
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: MSH:D010291
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 motor development" 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 []
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: MSH:D010523
xref: MSH:D011115
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: MSH:D061085
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: MSH:D009122
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: MSH:D007024
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 refers 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]
synonym: "Fainting spell" EXACT layperson []
xref: MSH:D013575
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: http://purl.org/dc/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: MSH:D013746
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: MSH:D010244
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 strectch reflexes (also called deep tendon relfexes) 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 []
xref: MSH:D012021
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: MSH:D008581
xref: SNOMEDCT_US:7180009
xref: UMLS:C0025289
is_a: HP:0011450 ! Unusual CNS infection

[Term]
id: HP:0001288
name: Gait disturbance
alt_id: HP:0006953
def: "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [https://orcid.org/0000-0002-0736-9199, PMID:27770207]
comment: If possible, this term should not be used for new annotations. Rather, a more specific term should be sought.
synonym: "Abnormal gait" EXACT layperson []
synonym: "Abnormal walk" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Gait abnormalities" EXACT []
synonym: "Gait difficulties" EXACT []
synonym: "Gait disturbances" EXACT []
synonym: "Impaired gait" EXACT layperson []
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." [https://orcid.org/0000-0002-0736-9199]
synonym: "Confusion" EXACT layperson []
synonym: "Disorientation" EXACT layperson []
synonym: "Easily confused" EXACT layperson []
synonym: "Mental disorientation" EXACT layperson []
xref: MSH:D003221
xref: SNOMEDCT_US:286933003
xref: UMLS:C0009676
is_a: HP:0004372 ! Reduced consciousness/confusion

[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: MSH:D020521
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: MSH:D001927
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: MSH:D020734
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
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 []
xref: MSH:D054082
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: MSH:D004422
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: MSH:D003616
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: MSH:D005207
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: MSH:D002524
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: MSH:D009123
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: MSH:C562568
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: MSH:D018908
xref: SNOMEDCT_US:26544005
xref: UMLS:C0151786
is_a: HP:0011804 ! Abnormal muscle physiology

[Term]
id: HP:0001325
name: Hypoglycemic coma
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: "Loss of consciousness due to hypoglycemia" EXACT []
xref: SNOMEDCT_US:267384006
xref: UMLS:C0020617
is_a: HP:0001259 ! Coma

[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: MSH:C535562
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: MSH:D004421
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: MSH:D006849
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:0100022 ! Abnormality of movement

[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: MSH:D009207
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: MSH:D014202
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: MSH:C536111
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: MSH:D054082
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 ! Abnormality of 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: MSH:D002543
xref: MSH:D020300
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: MSH:D007647
xref: SNOMEDCT_US:50143004
xref: SNOMEDCT_US:74925009
xref: UMLS:C0022610
is_a: HP:0012443 ! Abnormality of 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
xref: UMLS:C4025789
is_a: HP:0000709 ! Psychosis

[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: MSH:D012021
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: MSH:D058627
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: MSH:D049068
xref: MSH:D059041
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: MSH:D016142
xref: SNOMEDCT_US:30915001
xref: UMLS:C0079541
is_a: HP:0012443 ! Abnormality of 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 fontanel closure" EXACT []
synonym: "Premature suture closure" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: Fyler:4336
xref: MSH:D003398
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: MSH:D007592
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: MSH:D001168
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: MSH:D001172
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: MSH:D003286
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: MSH:D004204
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: MSH:D006618
xref: SNOMEDCT_US:48334007
xref: SNOMEDCT_US:52781008
xref: UMLS:C0019555
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:0001388

[Term]
id: HP:0001382
name: Joint hypermobility
alt_id: HP:0001378
alt_id: HP:0005034
def: "The ability of a joint to move beyond its normal range of motion." [https://orcid.org/0000-0002-0736-9199]
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 []
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:0005262 ! Abnormality of the synovia
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 []
xref: MSH:D006618
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: Joint laxity
alt_id: HP:0001380
alt_id: HP:0001383
alt_id: HP:0002771
def: "Lack of stability of a joint." [https://orcid.org/0000-0002-0736-9199]
comment: Joint laxity 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.
synonym: "Hyperlaxity" EXACT []
synonym: "Joint instability" EXACT layperson [https://orcid.org/0000-0002-6387-4317]
synonym: "Joint ligamentous laxity" EXACT []
synonym: "Lax joints" EXACT layperson []
synonym: "Ligamentous laxity" EXACT []
synonym: "Loose-jointedness" EXACT layperson []
synonym: "Loosejointedness" EXACT layperson []
xref: MSH:D007593
xref: SNOMEDCT_US:27911000
xref: SNOMEDCT_US:298203008
xref: UMLS:C0086437
xref: UMLS:C0158359
is_a: HP:0011729 ! Abnormality of joint mobility

[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: MSH:D008107
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: MSH:D008103
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: MSH:D008103
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: MSH:D002779
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: MSH:D005234
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: "Liver failure" EXACT layperson []
xref: MSH:D017093
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: MSH:D006528
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: MSH:D002780
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: MSH:D006975
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: MSH:D008107
xref: SNOMEDCT_US:75183008
xref: SNOMEDCT_US:77981007
xref: UMLS:C0086565
xref: UMLS:C0232744
xref: UMLS:C3279149
is_a: HP:0025155 ! Abnormality of 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: MSH:D050172
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: http://purl.org/dc/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: Multifactorial inheritance
alt_id: HP:0001429
alt_id: HP:0001472
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]
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: MSH:D020412
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: MSH:D050259
xref: UMLS:C0887941
is_a: HP:0034345 ! Mendelian inheritance

[Term]
id: HP:0001428
name: Somatic mutation
def: "A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation." []
comment: This term applies to a disease whose etiology is related to an alteration in DNA that occurs after conception. Somatic mutations occur in all body tissues throughout life and are not present in the germline from which the individual developed (The Greek word soma means body.) The majority of somatic mutations have no phenotypic effect. However, occasionally they may have functional consequences that confer a selective advantage on the cell owing to preferential growth or survival. These so-called driver mutations may ultimately lead to cancer or other diseases.
xref: SNOMEDCT_US:124975008
xref: UMLS:C0544886
is_a: HP:0034335 ! Inheritance modifier

[Term]
id: HP:0001430
name: Abnormality of the calf musculature
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: http://purl.org/dc/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: http://purl.org/dc/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: http://purl.org/dc/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: http://purl.org/dc/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: http://purl.org/dc/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: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-17T02:36:00Z

[Term]
id: HP:0001441
name: Abnormality of the musculature of the thigh
synonym: "Abnormal thigh muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4025783
is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-07T10:27:00Z

[Term]
id: HP:0001442
name: Somatic mosaicism
def: "The presence of 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." [https://orcid.org/0000-0002-0736-9199, PMID:12360233]
xref: UMLS:C1866227
is_a: HP:0000005 ! Mode of inheritance

[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: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199
creation_date: 2008-04-07T10:31:00Z

[Term]
id: HP:0001444
name: Autosomal dominant somatic cell mutation
def: "Being related to a de novo variant that occurs in a single cell in developing somatic tissue. The cell is the progenitor of a population of identical mutant cells, all of which have descended from the cell that mutated. Clinical manifestations depend on the identity and proportion of affected cells in the body." []
xref: UMLS:C4025781
is_a: HP:0034335 ! Inheritance modifier

[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: http://purl.org/dc/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: http://purl.org/dc/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: http://purl.org/dc/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: MSH:D050173
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: http://purl.org/dc/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: http://purl.org/dc/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: http://purl.org/dc/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: http://purl.org/dc/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: http://purl.org/dc/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 modifier

[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: http://purl.org/dc/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: http://purl.org/dc/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: http://purl.org/dc/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 modifier

[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: http://purl.org/dc/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: http://purl.org/dc/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 ! Abnormality of the anterior fontanelle
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: MSH:D008548
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 ! Abnormal movements of face and head
is_a: HP:5200065 ! Tactile sensory seeking
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708
property_value: http://purl.org/dc/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 humour 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: MSH:D020255
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: MSH:C580012
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: MSH:C535679
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: "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: "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: MSH:D005317
xref: MSH:D007236
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: MSH:D009765
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: MSH:D007230
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: MSH:D054119
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: MSH:D006554
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
def: "Accumulation of fluid in the peritoneal cavity." [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 []
xref: MSH:D001201
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: MSH:D020139
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: http://purl.org/dc/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: "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: MSH:D006831
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: MSH:D016104
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 ! Abnormality of 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: MSH:D009759
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: MSH:D014719
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 ! Abnormality of 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: MSH:D000505
xref: SNOMEDCT_US:278040002
xref: SNOMEDCT_US:56317004
xref: UMLS:C0002170
is_a: HP:0011362 ! Abnormal hair quantity

[Term]
id: HP:0001597
name: Abnormality of the nail
def: "Abnormality 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: MSH:D009260
xref: MSH:D009264
xref: SNOMEDCT_US:17790008
xref: UMLS:C0027339
xref: UMLS:C0853087
is_a: HP:0011138 ! Abnormality of 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: MSH:D055092
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: MSH:D007829
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: MSH:D014826
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: MSH:D014826
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: MSH:D006685
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: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-2592-4715
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-9593-5508
property_value: http://purl.org/dc/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: MSH:D055154
xref: SNOMEDCT_US:47004009
xref: UMLS:C1527344
is_a: HP:0001608 ! Abnormality of the voice
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-2592-4715
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-9593-5508
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389

[Term]
id: HP:0001620
name: 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: "An abnormal increase in the pitch (frequency) of the voice." []
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: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-2592-4715
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-9593-5508
property_value: http://purl.org/dc/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: MSH:D014832
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: MSH:D047928
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: MSH:D001946
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: MSH:D002318
xref: MSH:D018376
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: MSH:D006330
xref: SNOMEDCT_US:13213009
xref: UMLS:C0018798
xref: UMLS:C0152021
is_a: HP:0030680 ! Abnormality of 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: MSH:D006345
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: MSH:D006344
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: MSH:D008945
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: MSH:D006333
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: MSH:D013771
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: MSH:D009202
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: MSH:D002312
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: MSH:D006332
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: MSH:D011666
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: MSH:D004374
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: MSH:D002311
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: MSH:D016757
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: MSH:C562388
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: MSH:D011660
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: MSH:D013610
xref: SNOMEDCT_US:3424008
xref: SNOMEDCT_US:86651002
xref: UMLS:C0039231
xref: UMLS:C4020868
is_a: HP:0004308 ! Ventricular 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: MSH:D001024
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: MSH:D003914
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: MSH:D008944
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: MSH:D006349
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 []
xref: Fyler:2020
xref: ICD-10:Q21.1
xref: MSH:D054092
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: MSH:D009203
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: MSH:D001022
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: "Persistant truncus arteriosus" RELATED []
xref: Fyler:0500
xref: Fyler:500
xref: ICD-10:Q20.0
xref: MSH:D014338
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: MSH:D001919
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: MSH:D014693
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: MSH:D016171
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: MSH:D017380
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: "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: MSH:D006343
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: "Atrioventricular canal" EXACT []
synonym: "Common 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: MSH:D003324
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: MSH:D054537
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: MSH:D001017
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: MSH:D000787
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: MSH:D001020
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: MSH:D054083
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: MSH:D006344
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: MSH:D001044
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: MSH:D006323
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: MSH:D012857
xref: MSH:D059446
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: MSH:D010490
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: MSH:D003645
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: MSH:D010493
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: MSH:D014263
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: MSH:D014694
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: MSH:D004695
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: MSH:D006333
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: MSH:D017379
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: MSH:D014927
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: MSH:D008946
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 remodelling to divide into a separate pulmonary artery and aorta; subsequently, there is continued remodelling 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: MSH:D004310
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: MSH:D002313
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: MSH:D010182
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: MSH:D010195
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: MSH:C536376
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: MSH:D010181
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: MSH:D010188
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: MSH:D015508
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]
xref: MSH:D013163
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 hypofunction
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 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: MSH:D005530
xref: SNOMEDCT_US:229844004
xref: UMLS:C0016506
is_a: HP:0002814 ! Abnormality of the lower limb

[Term]
id: HP:0001761
name: Pes cavus
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.
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: "Foot, talipes equinovarus" EXACT []
synonym: "Pes equinovarus" EXACT []
synonym: "Pes equinus" EXACT []
synonym: "Talipes varus" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: Fyler:4171
xref: MEDDRA:10043106 "Talipes equinovarus, congenital"
xref: MSH:D003025
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: MSH:D005413
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: MSH:D037801
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: MSH:D004863
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: MSH:D005322
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 (inclusing 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: MSH:D015160
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: MSH:D015160
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: MSH:C536377
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:0002164 ! Nail dysplasia

[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: Onychogryposis
alt_id: HP:0001819
alt_id: HP:0200088
def: "Nail that appears thick when viewed on end." [PMID:19125433]
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.
synonym: "Dystrophic thickened nails" EXACT []
synonym: "Thick nail" EXACT layperson []
synonym: "Thickened nails" EXACT layperson []
xref: SNOMEDCT_US:52897009
xref: UMLS:C0263537
is_a: HP:0001597 ! Abnormality of the nail

[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: MSH:D054039
xref: SNOMEDCT_US:75789001
xref: UMLS:C0085661
is_a: HP:0001597 ! Abnormality of the nail

[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:0002164 ! Nail dysplasia

[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 ! Abnormality of the nail

[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 ! Abnormality of the nail

[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: MSH:D010304
xref: SNOMEDCT_US:71906005
xref: UMLS:C0030578
is_a: HP:0100803 ! Abnormality of the periungual region

[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: MSH:D000071378
xref: MSH:D006215
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: MSH:D015431
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: http://purl.org/dc/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: MSH:C536345
xref: MSH:D005413
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 []
xref: MSH:D000070592
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: MSH:C566632
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: "Spontaneous detachment of a foot from the body." [https://orcid.org/0000-0002-0736-9199]
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: MSH:D006402
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: MSH:D013915
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: MSH:D013921
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: Neutropenia
alt_id: HP:0005515
alt_id: HP:0005533
def: "An abnormally low number of neutrophils in the peripheral blood." [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: "Neutropoenia" EXACT uk_spelling []
synonym: "Peripheral neutropenia" EXACT []
xref: SNOMEDCT_US:165517008
xref: UMLS:C0853697
is_a: HP:0011991 ! Abnormal 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: MSH:D010198
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 []
synonym: "Hemolytic anaemia" EXACT uk_spelling []
synonym: "Increased hemolysis" EXACT []
xref: MSH:D000743
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: Eosinophilia
def: "Increased count of eosinophils in the blood." [https://orcid.org/0009-0006-4530-3154]
synonym: "High blood eosinophil count" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: MSH:D004802
xref: UMLS:C0014457
is_a: HP:0001974 ! Leukocytosis
is_a: HP:0020064 ! Abnormal 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: Leukopenia
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: "Low white blood cell count" EXACT layperson []
xref: MSH:D007970
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.\n1) Talipes equinovarus - the foot is pointing inwards and down (the most common form)\n2) Talipes equinovalgus - where the foot points outwards and down\n3) Talipes calcaneovarus - where the foot points inwards and up\n4) Talipes calcaneovalgus - where the foot points inwards and down.
synonym: "Talipes foot deformities" RELATED [https://orcid.org/0000-0002-5316-1399]
xref: MSH:D000070558
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: MSH:D005413
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: Lymphopenia
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 []
xref: MSH:D008231
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: MSH:D000749
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 []
synonym: "Autoimmune hemolytic anaemia" EXACT uk_spelling []
synonym: "Hemolytic anemia, autoimmune" EXACT []
xref: MSH:D000744
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: MSH:D018798
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: MSH:D013922
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 hemoglobin
synonym: "Increased haemoglobin" EXACT uk_spelling []
synonym: "Increased Hb" EXACT abbreviation []
xref: SNOMEDCT_US:131141003
xref: UMLS:C0549448
is_a: HP:0001901 ! Polycythemia

[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: MSH:D011086
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: MSH:D000740
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: Neutropenia in presence of anti-neutropil antibodies
def: "A type of neutropenia that is observed in the presence of granulocyte-specific 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: "Autoimmune neutropenia" EXACT []
xref: SNOMEDCT_US:234425008
xref: UMLS:C0340971
is_a: HP:0001875 ! Neutropenia
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: MSH:D013923
xref: MSH:D016769
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: MSH:D000741
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: MSH:D007938
xref: MSH:D019337
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: Granulocytopenia
def: "An abnormally reduced number of granulocytes in the blood." [https://orcid.org/0000-0002-0736-9199]
xref: MSH:D000380
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: MSH:D000741
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 []
xref: MSH:D058186
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: MSH:D012078
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: MSH:D045262
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: MSH:D000756
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: MSH:D001778
xref: MSH:D006474
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: MSH:D005173
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 anaemia" EXACT []
xref: MSH:D000747
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: http://purl.org/dc/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: MSH:C562385
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: MSH:D000743
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: MSH:D000138
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: MSH:D000138
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: MSH:D007003
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: MSH:D003681
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: MSH:D005334
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: MSH:D007662
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: MSH:D000141
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: MSH:D000471
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: MSH:D000472
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: MSH:D016883
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: MSH:D056128
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: MSH:D059606
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: "Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion." [https://orcid.org/0000-0002-0736-9199]
comment: This finding can be demonstrated by renal biopsy.
synonym: "Diffuse mesangial sclerosis glomerulopathy" EXACT []
synonym: "Mesangial sclerosis" EXACT []
xref: MSH:C537346
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: MSH:D009395
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: MSH:D009395
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: MSH:D006971
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: MSH:D000748
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\nsystem. 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: MSH:D016553
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: Leukocytosis
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]
xref: MSH:D007964
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: MSH:D013915
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: MSH:D020152
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]
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.
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: MSH:D012618
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: MSH:D022124
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: MSH:C536647
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: MSH:D005198
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: MSH:D006073
xref: MSH:D015210
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 ! Abnormality of the forehead

[Term]
id: HP:0002006
name: Facial 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

[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 protruberance" 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 ! Abnormality of the forehead
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: MSH:D002493
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: MSH:D014839
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: MSH:D003967
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: MSH:D003680
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: MSH:D009325
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: MSH:D003248
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: "Heartburn" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: MSH:D005764
xref: MSH:D006356
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: MSH:D011707
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: MSH:D001006
xref: SNOMEDCT_US:204712000
xref: SNOMEDCT_US:204731006
xref: UMLS:C0003466
is_a: HP:0004378 ! Abnormality of the anus

[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:0002242 ! Abnormal intestine morphology

[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:0004378 ! Abnormality of the anus

[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: MSH:D015746
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 ! Morphological abnormality of the gastrointestinal tract

[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: MSH:D004933
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: MSH:D012005
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: MSH:D006551
xref: SNOMEDCT_US:84089009
xref: UMLS:C3489393
is_a: HP:0002577 ! Abnormal stomach morphology
is_a: HP:0100790 ! Hernia
property_value: http://purl.org/dc/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: MSH:D015212
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: "A lack or loss of appetite for food (as a medical condition)." [https://orcid.org/0000-0002-0736-9199]
comment: Note that this term does not refer to the condition anorexia nervosa (A disorder characterized by an obsessive desire to lose weight by refusing to eat).
synonym: "Anorexia" EXACT layperson []
xref: MSH:D000855
xref: SNOMEDCT_US:79890006
xref: UMLS:C0003123
is_a: HP:0011458 ! Abdominal symptom

[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: MSH:D004932
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: MSH:D004940
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: MSH:D015043
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: MSH:D007035
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 in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine." [https://orcid.org/0000-0002-0736-9199]
synonym: "Malignant hyperthermia with anaesthesia" EXACT uk_spelling []
synonym: "Malignant hyperthermia with anesthesia" EXACT []
xref: MSH:D008305
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: MSH:D000141
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 ! Abnormality of the forehead

[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]
xref: SNOMEDCT_US:394679006
xref: UMLS:C1271100
is_a: HP:0034353 ! Appendicular spasticity

[Term]
id: HP:0002062
name: Morphological abnormality of the pyramidal tract
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: "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: MSH:D009127
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: MSH:D020233
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: MSH:D020234
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: MSH:D018476
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 generalised 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: MSH:D012640
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: MSH:D001259
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 grey 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: MSH:D001480
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: MSH:D002819
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: MSH:D008881
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: MSH:D020325
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: MSH:D001259
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: MSH:D014202
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: MSH:D020326
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: MSH:D004677
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: MSH:D004677
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: "Unusal lung shape" EXACT layperson []
xref: MSH:D008171
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: MSH:D011014
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: MSH:D006976
xref: MSH:D065627
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: MSH:D012131
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: MSH:D004417
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: MSH:D011656
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: "Respiratory difficulties" EXACT []
xref: MSH:D004417
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: MSH:D001249
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: "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: MSH:D010998
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: MSH:D001049
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: MSH:D006469
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: MSH:D011030
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: MSH:D011030
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: MSH:D001987
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 ! Abnormality of 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 characterised 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: MSH:D004832
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 characterised 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: MSH:D004831
xref: MSH:D020191
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: MSH:D065706
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 \n(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: MSH:C580065
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: MSH:D065708
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: MSH:D013226
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: MSH:D001480
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 haemorrhage" EXACT []
xref: MSH:D013345
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
xref: MSH:D016142
xref: UMLS:C0078982
is_a: HP:0002323 ! Anencephaly

[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: MSH:D013118
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: MSH:D009436
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: MSH:D057180
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: MSH:D017674
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: MSH:D033461
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: MSH:D053565
xref: SNOMEDCT_US:71938000
xref: UMLS:C0020438
is_a: HP:0011280 ! Abnormality of urine calcium concentration

[Term]
id: HP:0002151
name: Increased serum lactate
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 []
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: "Elevated serum potassium levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: MSH:D006947
xref: SNOMEDCT_US:14140009
xref: SNOMEDCT_US:166689004
xref: SNOMEDCT_US:238142003
xref: UMLS:C0020461
is_a: HP:0011042 ! Abnormal blood 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: MSH:D006712
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: MSH:D053099
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).\nHyperhomocystinemic 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: MSH:D020167
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 ! Abnormality of the nail

[Term]
id: HP:0002165
name: Pterygium of nails
def: "Inward advance of skin over the nail plate." [https://orcid.org/0000-0002-0736-9199]
synonym: "Nail pterygium" EXACT []
xref: SNOMEDCT_US:110987009
xref: UMLS:C0406438
is_a: HP:0001597 ! Abnormality of the nail

[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: Abnormality of speech or vocalization
def: "Abnormalities in the sound of a person's speech or vocalization which are not necessarily associated with a known physical cause." []
xref: MSH:D013064
xref: UMLS:C0037822
is_a: HP:0011446 ! Abnormality of higher mental function
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-2592-4715
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-9593-5508
property_value: http://purl.org/dc/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 ! Abnormality of speech or vocalization

[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: MSH:D020300
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: MSH:D005911
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: MSH:D014202
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\nany 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: MSH:D013117
xref: SNOMEDCT_US:71286001
xref: UMLS:C0037926
is_a: HP:0002143 ! Abnormal spinal cord morphology

[Term]
id: HP:0002179
name: Opisthotonus
comment: Severe hyperextension and spasticity in which an individual's head, neck and spinal column arch posteriorly. {xref="PMID:29972427"}
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: MSH:D009410
xref: MSH:D019636
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 []
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: MSH:D001929
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: MSH:D012001
xref: SNOMEDCT_US:313387002
xref: UMLS:C0751466
is_a: HP:5200060 ! Auditory hypersensitivity
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153
property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708
property_value: http://purl.org/dc/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]
synonym: "Neurofibrillary tangles composed of disordered microtubules in neurons" EXACT []
synonym: "Paired helical filaments" EXACT []
xref: MSH:D016874
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." [https://orcid.org/0000-0002-0736-9199, PMID:34033988]
synonym: "Apraxias" RELATED []
xref: MSH:D001072
xref: SNOMEDCT_US:68345001
xref: SNOMEDCT_US:6950007
xref: UMLS:C0003635
is_a: HP:0011442 ! Abnormal central motor function
is_a: HP:0011446 ! Abnormality of higher mental 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: MSH:D008607
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 behavioral symptoms
def: "Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc." [https://orcid.org/0009-0006-4530-3154]
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 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 []
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
xref: MSH:D013118
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 generalised 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: MSH:D012640
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: MSH:D010996
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: MSH:D012133
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: MSH:D011655
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: MSH:D011658
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 layperson []
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: "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: MSH:C565029
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 woolly 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: MSH:C531609
xref: MSH:D000506
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: MSH:D006471
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: MSH:D006529
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: MSH:D007410
xref: SNOMEDCT_US:85919009
xref: UMLS:C0021831
is_a: HP:0012718 ! Morphological abnormality of the gastrointestinal tract

[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: MSH:D011504
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: MSH:D008467
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: MSH:C535720
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: "Vomitting blood" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: MSH:D006396
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: MSH:D008551
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: "Congenital megacolon" EXACT []
synonym: "Enlarged colon lacking nerve cells" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Hirschsprung disease" RELATED []
synonym: "Hirschsprung megacolon" EXACT []
synonym: "Megacolon" EXACT []
xref: MEDDRA:10027110 "Megacolon"
xref: MSH:D006627
xref: MSH:D008531
xref: SNOMEDCT_US:204739008
xref: SNOMEDCT_US:33995003
xref: SNOMEDCT_US:367495003
xref: UMLS:C0019569
xref: UMLS:C0025160
is_a: HP:0004362 ! Abnormality of enteric ganglion morphology

[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: MSH:D004241
xref: MSH:D043963
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: MSH:D020938
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: MSH:D000071017
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: MSH:D004421
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: MSH:D054081
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: MSH:D011782
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: MSH:D006732
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 grey 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 grey matter within the white matter, and the term grey 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: MSH:D002828
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: MSH:C537055
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: MSH:D000505
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: MSH:D000505
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
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: MSH:D009155
xref: SNOMEDCT_US:88052002
xref: UMLS:C0026884
is_a: HP:0000708 ! Atypical behavior
is_a: HP:0002167 ! Abnormality of speech or vocalization

[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: MSH:D006429
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: MSH:D001264
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: MSH:D012798
xref: SNOMEDCT_US:275295002
xref: SNOMEDCT_US:53827007
xref: SNOMEDCT_US:62718007
xref: UMLS:C0013132
xref: UMLS:C0037036
is_a: HP:0000708 ! Atypical behavior
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 []
xref: MSH:D001139
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: MSH:D020820
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: MSH:D001259
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
xref: MSH:D020336
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: MSH:D006261
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: MSH:D020233
xref: SNOMEDCT_US:22631008
xref: SNOMEDCT_US:394616008
xref: UMLS:C0231686
is_a: HP:0001288 ! Gait disturbance

[Term]
id: HP:0002318
name: Cervical myelopathy
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: MSH:D004244
xref: MSH:D014717
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: MSH:D014202
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: MSH:D000757
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: MSH:D006832
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: MSH:D002546
xref: UMLS:C0917805
is_a: HP:0001297 ! Stroke
is_a: HP:0002637 ! Cerebral ischemia

[Term]
id: HP:0002329
name: Drowsiness
def: "Excessive daytime sleepiness." [https://orcid.org/0000-0002-0736-9199]
synonym: "Drowsiness" EXACT layperson []
synonym: "Sleepy" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: MSH:D012894
xref: SNOMEDCT_US:271782001
xref: SNOMEDCT_US:79519003
xref: UMLS:C0013144
is_a: HP:0004372 ! Reduced consciousness/confusion

[Term]
id: HP:0002330
name: Paroxysmal drowsiness
def: "Attacks of disabling daytime drowsiness and low alertness." [https://orcid.org/0000-0002-0736-9199]
xref: UMLS:C4025713
is_a: HP:0002329 ! Drowsiness

[Term]
id: HP:0002331
name: Recurrent paroxysmal headache
def: "Repeated episodes of headache with rapid onset, reac